LOCUS       NM_173076               9298 bp    mRNA    linear   PRI 04-OCT-2024
DEFINITION  Homo sapiens ATP binding cassette subfamily A member 12 (ABCA12),
            transcript variant 1, mRNA.
ACCESSION   NM_173076
VERSION     NM_173076.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 9298)
  AUTHORS   Noda,T., Takeichi,T., Tanahashi,K., Ogawa,Y., Takeuchi,S.,
            Yoshikawa,T., Toriyama,E., Ashida,M., Imakado,S., Tsuchihashi,H.,
            Okamoto,T., Okuno,Y., Ogi,T., Sugiura,K., Kubo,A., Muro,Y.,
            Suga,Y., Ishida-Yamamoto,A. and Akiyama,M.
  TITLE     Updated mutational spectrum and genotype-phenotype correlations in
            ichthyosis patients with ABCA12 pathogenic variants
  JOURNAL   Exp Dermatol 33 (4), e15072 (2024)
   PUBMED   38576105
  REMARK    GeneRIF: Updated mutational spectrum and genotype-phenotype
            correlations in ichthyosis patients with ABCA12 pathogenic
            variants.
REFERENCE   2  (bases 1 to 9298)
  AUTHORS   Hotz,A., Folster-Holst,R., Oji,V., Bourrat,E., Frank,J.,
            Marrakchi,S., Ennouri,M., Wankner,L., Komlosi,K., Alter,S. and
            Fischer,J.
  TITLE     Erythrokeratodermia Variabilis-like Phenotype in Patients Carrying
            ABCA12 Mutations
  JOURNAL   Genes (Basel) 15 (3), 288 (2024)
   PUBMED   38540347
  REMARK    GeneRIF: Erythrokeratodermia Variabilis-like Phenotype in Patients
            Carrying ABCA12 Mutations.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 9298)
  AUTHORS   Liu,Y., Mo,R., Chen,Z. and Yang,Y.
  TITLE     Novel variants in ABCA12 cause erythrokeratodermia variabilis
  JOURNAL   Br J Dermatol 190 (3), 454 (2024)
   PUBMED   38085035
  REMARK    GeneRIF: Novel variants in ABCA12 cause erythrokeratodermia
            variabilis.
REFERENCE   4  (bases 1 to 9298)
  AUTHORS   Takeichi,T., Hamada,T., Yamamoto,M., Ito,Y., Kawaguchi,A.,
            Kobashi,H., Yoshikawa,T., Koga,H., Ishii,N., Nakama,T., Muro,Y.,
            Ogi,T. and Akiyama,M.
  TITLE     Patients with keratinization disorders due to ABCA12 variants
            showing pityriasis rubra pilaris phenotypes
  JOURNAL   J Dermatol 51 (1), 101-105 (2024)
   PUBMED   37752865
  REMARK    GeneRIF: Patients with keratinization disorders due to ABCA12
            variants showing pityriasis rubra pilaris phenotypes.
REFERENCE   5  (bases 1 to 9298)
  AUTHORS   Terrinoni,A., Sala,G., Bruno,E., Pitolli,C., Minieri,M., Pieri,M.,
            Gambacurta,A., Campione,E., Belardi,R. and Bernardini,S.
  TITLE     Partial Loss of Function ABCA12 Mutations Generate Reduced
            Deposition of Glucosyl-Ceramide, Leading to Patchy Ichthyosis and
            Erythrodermia Resembling Erythrokeratodermia Variabilis et
            Progressiva (EKVP)
  JOURNAL   Int J Mol Sci 24 (18), 13962 (2023)
   PUBMED   37762265
  REMARK    GeneRIF: Partial Loss of Function ABCA12 Mutations Generate Reduced
            Deposition of Glucosyl-Ceramide, Leading to Patchy Ichthyosis and
            Erythrodermia Resembling Erythrokeratodermia Variabilis et
            Progressiva (EKVP).
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 9298)
  AUTHORS   Dean,M., Rzhetsky,A. and Allikmets,R.
  TITLE     The human ATP-binding cassette (ABC) transporter superfamily
  JOURNAL   Genome Res 11 (7), 1156-1166 (2001)
   PUBMED   11435397
  REMARK    Review article
REFERENCE   7  (bases 1 to 9298)
  AUTHORS   Parmentier,L., Clepet,C., Boughdene-Stambouli,O., Lakhdar,H.,
            Blanchet-Bardon,C., Dubertret,L., Wunderle,E., Pulcini,F.,
            Fizames,C. and Weissenbach,J.
  TITLE     Lamellar ichthyosis: further narrowing, physical and expression
            mapping of the chromosome 2 candidate locus
  JOURNAL   Eur J Hum Genet 7 (1), 77-87 (1999)
   PUBMED   10094194
REFERENCE   8  (bases 1 to 9298)
  AUTHORS   Allikmets,R., Gerrard,B., Hutchinson,A. and Dean,M.
  TITLE     Characterization of the human ABC superfamily: isolation and
            mapping of 21 new genes using the expressed sequence tags database
  JOURNAL   Hum Mol Genet 5 (10), 1649-1655 (1996)
   PUBMED   8894702
REFERENCE   9  (bases 1 to 9298)
  AUTHORS   Parmentier,L., Lakhdar,H., Blanchet-Bardon,C., Marchand,S.,
            Dubertret,L. and Weissenbach,J.
  TITLE     Mapping of a second locus for lamellar ichthyosis to chromosome
            2q33-35
  JOURNAL   Hum Mol Genet 5 (4), 555-559 (1996)
   PUBMED   8845852
  REMARK    Erratum:[Hum Mol Genet 1996 Jun;5(6):862-3]
REFERENCE   10 (bases 1 to 9298)
  AUTHORS   Richard,G.
  TITLE     Autosomal Recessive Congenital Ichthyosis
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301593
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC072062.3, AY219711.1,
            BC144073.1, AF418105.1, AK123578.1 and AK096597.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_173076.2.
            
            Summary: The membrane-associated protein encoded by this gene is a
            member of the superfamily of ATP-binding cassette (ABC)
            transporters. ABC proteins transport various molecules across
            extra- and intracellular membranes. ABC genes are divided into
            seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20,
            and White). This encoded protein is a member of the ABC1 subfamily,
            which is the only major ABC subfamily found exclusively in
            multicellular eukaryotes. Alternative splicing of this gene results
            in multiple transcript variants. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (a).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AY219711.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000272895.12/ ENSP00000272895.7
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-198               AC072062.3         191933-192130       c
            199-2368            AY219711.1         1-2170
            2369-2746           BC144073.1         2113-2490
            2747-2750           AC072062.3         64944-64947         c
            2751-2848           AY219711.1         2553-2650
            2849-6723           AF418105.1         1773-5647
            6724-8158           AK123578.1         1066-2500
            8159-9068           AK096597.1         1086-1995
            9069-9298           AY219711.1         8871-9100
FEATURES             Location/Qualifiers
     source          1..9298
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q35"
     gene            1..9298
                     /gene="ABCA12"
                     /gene_synonym="ARCI4A; ARCI4B; ICR2B; LI2"
                     /note="ATP binding cassette subfamily A member 12"
                     /db_xref="GeneID:26154"
                     /db_xref="HGNC:HGNC:14637"
                     /db_xref="MIM:607800"
     exon            1..487
                     /gene="ABCA12"
                     /gene_synonym="ARCI4A; ARCI4B; ICR2B; LI2"
                     /inference="alignment:Splign:2.1.0"
     CDS             419..8206
                     /gene="ABCA12"
                     /gene_synonym="ARCI4A; ARCI4B; ICR2B; LI2"
                     /EC_number="7.6.2.1"
                     /note="isoform a is encoded by transcript variant 1;
                     ATP-binding cassette transporter 12; ATP-binding cassette,
                     sub-family A (ABC1), member 12; glucosylceramide
                     transporter ABCA12"
                     /codon_start=1
                     /product="glucosylceramide transporter ABCA12 isoform a"
                     /protein_id="NP_775099.2"
                     /db_xref="CCDS:CCDS33372.1"
                     /db_xref="GeneID:26154"
                     /db_xref="HGNC:HGNC:14637"
                     /db_xref="MIM:607800"
                     /translation="MASLFHQLQILVWKNWLGVKRQPLWTLVLILWPVIIFIILAITR
                     TKFPPTAKPTCYLAPRNLPSTGFFPFLQTLLCDTDSKCKDTPYGPQDLLRRKGIDDAL
                     FKDSEILRKSSNLDKDSSLSFQSTQVPERRHASLATVFPSPSSDLEIPGTYTFNGSQV
                     LARILGLEKLLKQNSTSEDIRRELCDSYSGYIVDDAFSWTFLGRNVFNKFCLSNMTLL
                     ESSLQELNKQFSQLSSDPNNQKIVFQEIVRMLSFFSQVQEQKAVWQLLSSFPNVFQND
                     TSLSNLFDVLRKANSVLLVVQKVYPRFATNEGFRTLQKSVKHLLYTLDSPAQGDSDNI
                     THVWNEDDGQTLSPSSLAAQLLILENFEDALLNISANSPYIPYLACVRNVTDSLARGS
                     PENLRLLQSTIRFKKSFLRNGSYEDYFPPVPEVLKSKLSQLRNLTELLCESETFSLIE
                     KSCQLSDMSFGSLCEESEFDLQLLEAAELGTEIAASLLYHDNVISKKVRDLLTGDPSK
                     INLNMDQFLEQALQMNYLENITQLIPIIEAMLHVNNSADASEKPGQLLEMFKNVEELK
                     EDLRRTTGMSNRTIDKLLAIPIPDNRAEIISQVFWLHSCDTNITTPKLEDAMKEFCNL
                     SLSERSRQSYLIGLTLLHYLNIYNFTYKVFFPRKDQKPVEKMMELFIRLKEILNQMAS
                     GTHPLLDKMRSLKQMHLPRSVPLTQAMYRSNRMNTPQGSFSTISQALCSQGITTEYLT
                     AMLPSSQRPKGNHTKDFLTYKLTKEQIASKYGIPINSTPFCFSLYKDIINMPAGPVIW
                     AFLKPMLLGRILYAPYNPVTKAIMEKSNVTLRQLAELREKSQEWMDKSPLFMNSFHLL
                     NQAIPMLQNTLRNPFVQVFVKFSVGLDAVELLKQIDELDILRLKLENNIDIIDQLNTL
                     SSLTVNISSCVLYDRIQAAKTIDEMEREAKRLYKSNELFGSVIFKLPSNRSWHRGYDS
                     GNVFLPPVIKYTIRMSLKTAQTTRSLRTKIWAPGPHNSPSHNQIYGRAFIYLQDSIER
                     AIIELQTGRNSQEIAVQVQAIPYPCFMKDNFLTSVSYSLPIVLMVAWVVFIAAFVKKL
                     VYEKDLRLHEYMKMMGVNSCSHFFAWLIESVGFLLVTIVILIIILKFGNILPKTNGFI
                     LFLYFSDYSFSVIAMSYLISVFFNNTNIAALIGSLIYIIAFFPFIVLVTVENELSYVL
                     KVFMSLLSPTAFSYASQYIARYEEQGIGLQWENMYTSPVQDDTTSFGWLCCLILADSF
                     IYFLIAWYVRNVFPGTYGMAAPWYFPILPSYWKERFGCAEVKPEKSNGLMFTNIMMQN
                     TNPSASPEYMFSSNIEPEPKDLTVGVALHGVTKIYGSKVAVDNLNLNFYEGHITSLLG
                     PNGAGKTTTISMLTGLFGASAGTIFVYGKDIKTDLHTVRKNMGVCMQHDVLFSYLTTK
                     EHLLLYGSIKVPHWTKKQLHEEVKRTLKDTGLYSHRHKRVGTLSGGMKRKLSISIALI
                     GGSRVVILDEPSTGVDPCSRRSIWDVISKNKTARTIILSTHHLDEAEVLSDRIAFLEQ
                     GGLRCCGSPFYLKEAFGDGYHLTLTKKKSPNLNANAVCDTMAVTAMIQSHLPEAYLKE
                     DIGGELVYVLPPFSTKVSGAYLSLLRALDNGMGDLNIGCYGISDTTVEEVFLNLTKES
                     QKNSAMSLEHLTQKKIGNSNANGISTPDDLSVSSSNFTDRDDKILTRGERLDGFGLLL
                     KKIMAILIKRFHHTRRNWKGLIAQVILPIVFVTTAMGLGTLRNSSNSYPEIQISPSLY
                     GTSEQTAFYANYHPSTEALVSAMWDFPGIDNMCLNTSDLQCLNKDSLEKWNTSGEPIT
                     NFGVCSCSENVQECPKFNYSPPHRRTYSSQVIYNLTGQRVENYLISTANEFVQKRYGG
                     WSFGLPLTKDLRFDITGVPANRTLAKVWYDPEGYHSLPAYLNSLNNFLLRVNMSKYDA
                     ARHGIIMYSHPYPGVQDQEQATISSLIDILVALSILMGYSVTTASFVTYVVREHQTKA
                     KQLQHISGIGVTCYWVTNFIYDMVFYLVPVAFSIGIIAIFKLPAFYSENNLGAVSLLL
                     LLFGYATFSWMYLLAGLFHETGMAFITYVCVNLFFGINSIVSLSVVYFLSKEKPNDPT
                     LELISETLKRIFLIFPQFCFGYGLIELSQQQSVLDFLKAYGVEYPNETFEMNKLGAMF
                     VALVSQGTMFFSLRLLINESLIKKLRLFFRKFNSSHVRETIDEDEDVRAERLRVESGA
                     AEFDLVQLYCLTKTYQLIHKKIIAVNNISIGIPAGECFGLLGVNGAGKTTIFKMLTGD
                     IIPSSGNILIRNKTGSLGHVDSHSSLVGYCPQEDALDDLVTVEEHLYFYARVHGIPEK
                     DIKETVHKLLRRLHLMPFKDRATSMCSYGTKRKLSTALALIGKPSILLLDEPSSGMDP
                     KSKRHLWKIISEEVQNKCSVILTSHSMEECEALCTRLAIMVNGKFQCIGSLQHIKSRF
                     GRGFTVKVHLKNNKVTMETLTKFMQLHFPKTYLKDQHLSMLEYHVPVTAGGVANIFDL
                     LETNKTALNITNFLVSQTTLEEVFINFAKDQKSYETADTSSQGSTISVDSQDDQMES"
     exon            488..581
                     /gene="ABCA12"
                     /gene_synonym="ARCI4A; ARCI4B; ICR2B; LI2"
                     /inference="alignment:Splign:2.1.0"
     exon            582..735
                     /gene="ABCA12"
                     /gene_synonym="ARCI4A; ARCI4B; ICR2B; LI2"
                     /inference="alignment:Splign:2.1.0"
     exon            736..827
                     /gene="ABCA12"
                     /gene_synonym="ARCI4A; ARCI4B; ICR2B; LI2"
                     /inference="alignment:Splign:2.1.0"
     exon            828..925
                     /gene="ABCA12"
                     /gene_synonym="ARCI4A; ARCI4B; ICR2B; LI2"
                     /inference="alignment:Splign:2.1.0"
     exon            926..1111
                     /gene="ABCA12"
                     /gene_synonym="ARCI4A; ARCI4B; ICR2B; LI2"
                     /inference="alignment:Splign:2.1.0"
     exon            1112..1290
                     /gene="ABCA12"
                     /gene_synonym="ARCI4A; ARCI4B; ICR2B; LI2"
                     /inference="alignment:Splign:2.1.0"
     exon            1291..1403
                     /gene="ABCA12"
                     /gene_synonym="ARCI4A; ARCI4B; ICR2B; LI2"
                     /inference="alignment:Splign:2.1.0"
     exon            1404..1479
                     /gene="ABCA12"
                     /gene_synonym="ARCI4A; ARCI4B; ICR2B; LI2"
                     /inference="alignment:Splign:2.1.0"
     exon            1480..1598
                     /gene="ABCA12"
                     /gene_synonym="ARCI4A; ARCI4B; ICR2B; LI2"
                     /inference="alignment:Splign:2.1.0"
     exon            1599..1705
                     /gene="ABCA12"
                     /gene_synonym="ARCI4A; ARCI4B; ICR2B; LI2"
                     /inference="alignment:Splign:2.1.0"
     exon            1706..1962
                     /gene="ABCA12"
                     /gene_synonym="ARCI4A; ARCI4B; ICR2B; LI2"
                     /inference="alignment:Splign:2.1.0"
     exon            1963..2075
                     /gene="ABCA12"
                     /gene_synonym="ARCI4A; ARCI4B; ICR2B; LI2"
                     /inference="alignment:Splign:2.1.0"
     exon            2076..2200
                     /gene="ABCA12"
                     /gene_synonym="ARCI4A; ARCI4B; ICR2B; LI2"
                     /inference="alignment:Splign:2.1.0"
     exon            2201..2374
                     /gene="ABCA12"
                     /gene_synonym="ARCI4A; ARCI4B; ICR2B; LI2"
                     /inference="alignment:Splign:2.1.0"
     exon            2375..2539
                     /gene="ABCA12"
                     /gene_synonym="ARCI4A; ARCI4B; ICR2B; LI2"
                     /inference="alignment:Splign:2.1.0"
     exon            2540..2750
                     /gene="ABCA12"
                     /gene_synonym="ARCI4A; ARCI4B; ICR2B; LI2"
                     /inference="alignment:Splign:2.1.0"
     exon            2751..2890
                     /gene="ABCA12"
                     /gene_synonym="ARCI4A; ARCI4B; ICR2B; LI2"
                     /inference="alignment:Splign:2.1.0"
     exon            2891..3010
                     /gene="ABCA12"
                     /gene_synonym="ARCI4A; ARCI4B; ICR2B; LI2"
                     /inference="alignment:Splign:2.1.0"
     exon            3011..3101
                     /gene="ABCA12"
                     /gene_synonym="ARCI4A; ARCI4B; ICR2B; LI2"
                     /inference="alignment:Splign:2.1.0"
     exon            3102..3281
                     /gene="ABCA12"
                     /gene_synonym="ARCI4A; ARCI4B; ICR2B; LI2"
                     /inference="alignment:Splign:2.1.0"
     exon            3282..3597
                     /gene="ABCA12"
                     /gene_synonym="ARCI4A; ARCI4B; ICR2B; LI2"
                     /inference="alignment:Splign:2.1.0"
     exon            3598..3712
                     /gene="ABCA12"
                     /gene_synonym="ARCI4A; ARCI4B; ICR2B; LI2"
                     /inference="alignment:Splign:2.1.0"
     exon            3713..4042
                     /gene="ABCA12"
                     /gene_synonym="ARCI4A; ARCI4B; ICR2B; LI2"
                     /inference="alignment:Splign:2.1.0"
     exon            4043..4112
                     /gene="ABCA12"
                     /gene_synonym="ARCI4A; ARCI4B; ICR2B; LI2"
                     /inference="alignment:Splign:2.1.0"
     exon            4113..4247
                     /gene="ABCA12"
                     /gene_synonym="ARCI4A; ARCI4B; ICR2B; LI2"
                     /inference="alignment:Splign:2.1.0"
     exon            4248..4394
                     /gene="ABCA12"
                     /gene_synonym="ARCI4A; ARCI4B; ICR2B; LI2"
                     /inference="alignment:Splign:2.1.0"
     exon            4395..4581
                     /gene="ABCA12"
                     /gene_synonym="ARCI4A; ARCI4B; ICR2B; LI2"
                     /inference="alignment:Splign:2.1.0"
     exon            4582..4800
                     /gene="ABCA12"
                     /gene_synonym="ARCI4A; ARCI4B; ICR2B; LI2"
                     /inference="alignment:Splign:2.1.0"
     exon            4801..4997
                     /gene="ABCA12"
                     /gene_synonym="ARCI4A; ARCI4B; ICR2B; LI2"
                     /inference="alignment:Splign:2.1.0"
     exon            4998..5158
                     /gene="ABCA12"
                     /gene_synonym="ARCI4A; ARCI4B; ICR2B; LI2"
                     /inference="alignment:Splign:2.1.0"
     exon            5159..5395
                     /gene="ABCA12"
                     /gene_synonym="ARCI4A; ARCI4B; ICR2B; LI2"
                     /inference="alignment:Splign:2.1.0"
     exon            5396..5546
                     /gene="ABCA12"
                     /gene_synonym="ARCI4A; ARCI4B; ICR2B; LI2"
                     /inference="alignment:Splign:2.1.0"
     exon            5547..5799
                     /gene="ABCA12"
                     /gene_synonym="ARCI4A; ARCI4B; ICR2B; LI2"
                     /inference="alignment:Splign:2.1.0"
     exon            5800..5886
                     /gene="ABCA12"
                     /gene_synonym="ARCI4A; ARCI4B; ICR2B; LI2"
                     /inference="alignment:Splign:2.1.0"
     exon            5887..5980
                     /gene="ABCA12"
                     /gene_synonym="ARCI4A; ARCI4B; ICR2B; LI2"
                     /inference="alignment:Splign:2.1.0"
     exon            5981..6108
                     /gene="ABCA12"
                     /gene_synonym="ARCI4A; ARCI4B; ICR2B; LI2"
                     /inference="alignment:Splign:2.1.0"
     exon            6109..6196
                     /gene="ABCA12"
                     /gene_synonym="ARCI4A; ARCI4B; ICR2B; LI2"
                     /inference="alignment:Splign:2.1.0"
     exon            6197..6302
                     /gene="ABCA12"
                     /gene_synonym="ARCI4A; ARCI4B; ICR2B; LI2"
                     /inference="alignment:Splign:2.1.0"
     exon            6303..6357
                     /gene="ABCA12"
                     /gene_synonym="ARCI4A; ARCI4B; ICR2B; LI2"
                     /inference="alignment:Splign:2.1.0"
     exon            6358..6535
                     /gene="ABCA12"
                     /gene_synonym="ARCI4A; ARCI4B; ICR2B; LI2"
                     /inference="alignment:Splign:2.1.0"
     exon            6536..6651
                     /gene="ABCA12"
                     /gene_synonym="ARCI4A; ARCI4B; ICR2B; LI2"
                     /inference="alignment:Splign:2.1.0"
     exon            6652..6811
                     /gene="ABCA12"
                     /gene_synonym="ARCI4A; ARCI4B; ICR2B; LI2"
                     /inference="alignment:Splign:2.1.0"
     exon            6812..7065
                     /gene="ABCA12"
                     /gene_synonym="ARCI4A; ARCI4B; ICR2B; LI2"
                     /inference="alignment:Splign:2.1.0"
     exon            7066..7270
                     /gene="ABCA12"
                     /gene_synonym="ARCI4A; ARCI4B; ICR2B; LI2"
                     /inference="alignment:Splign:2.1.0"
     exon            7271..7380
                     /gene="ABCA12"
                     /gene_synonym="ARCI4A; ARCI4B; ICR2B; LI2"
                     /inference="alignment:Splign:2.1.0"
     exon            7381..7522
                     /gene="ABCA12"
                     /gene_synonym="ARCI4A; ARCI4B; ICR2B; LI2"
                     /inference="alignment:Splign:2.1.0"
     exon            7523..7657
                     /gene="ABCA12"
                     /gene_synonym="ARCI4A; ARCI4B; ICR2B; LI2"
                     /inference="alignment:Splign:2.1.0"
     exon            7658..7761
                     /gene="ABCA12"
                     /gene_synonym="ARCI4A; ARCI4B; ICR2B; LI2"
                     /inference="alignment:Splign:2.1.0"
     exon            7762..7854
                     /gene="ABCA12"
                     /gene_synonym="ARCI4A; ARCI4B; ICR2B; LI2"
                     /inference="alignment:Splign:2.1.0"
     exon            7855..7960
                     /gene="ABCA12"
                     /gene_synonym="ARCI4A; ARCI4B; ICR2B; LI2"
                     /inference="alignment:Splign:2.1.0"
     exon            7961..8098
                     /gene="ABCA12"
                     /gene_synonym="ARCI4A; ARCI4B; ICR2B; LI2"
                     /inference="alignment:Splign:2.1.0"
     exon            8099..9298
                     /gene="ABCA12"
                     /gene_synonym="ARCI4A; ARCI4B; ICR2B; LI2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      8513..8518
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ABCA12"
                     /gene_synonym="ARCI4A; ARCI4B; ICR2B; LI2"
                     /note="hexamer: AATAAA"
     polyA_site      8536
                     /gene="ABCA12"
                     /gene_synonym="ARCI4A; ARCI4B; ICR2B; LI2"
     regulatory      9272..9277
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ABCA12"
                     /gene_synonym="ARCI4A; ARCI4B; ICR2B; LI2"
                     /note="hexamer: AATAAA"
     polyA_site      9298
                     /gene="ABCA12"
                     /gene_synonym="ARCI4A; ARCI4B; ICR2B; LI2"
                     /note="major polyA site"
ORIGIN      
        1 gtggataggc aattaatttc atggagagta ggaggtgtgg gttcagctgc tgcttttttt
       61 tttttttcag tgaggcatta tctgaatgat gctcattctc tcttgagtct ggacttcgtg
      121 caacaagcag caactggata ttattttaaa ataagcataa gccacccaaa gatactgatc
      181 tgggtccttc ttttggaaga agagttgatt gagaagtgcc tcttggttaa ggattaacca
      241 cagggaaaaa tccagcagaa acagaagaac tgtgggtttc ttaccccagc cctcaaggaa
      301 gctatgccgt gaaaggggta ctgatacact gacatacagc aagttggacg gggcatcagt
      361 tcttcatttg tggagtggag aaaagaagag gaaatctctc atttggggca tttgaaggat
      421 ggcttccctg tttcatcagc ttcagatcct ggtctggaaa aattggctag gtgtaaaaag
      481 gcagccgctt tggacacttg tcttgatctt atggccagtc attattttca taattttggc
      541 tattactcgg accaaatttc ctccaactgc aaaaccaact tgttacctcg cacctcgaaa
      601 ccttcctagt actggattct ttccattcct gcagacccta ctctgtgaca cagactctaa
      661 atgcaaagac acaccctatg gcccacaaga tctgcttcgt aggaaaggaa ttgatgatgc
      721 actatttaaa gacagtgaga ttctgagaaa gtcatccaac ctggataagg acagcagttt
      781 atcattccag agcacccaag ttccagaaag aaggcatgca tcactagcca cagtatttcc
      841 cagtccaagt tctgatttgg aaatccccgg aacatatact ttcaatggca gtcaagtgct
      901 cgcacgaatt cttggcttgg aaaagctgtt aaagcaaaat tcaacttcag aagatatacg
      961 aagagaacta tgtgacagct attcaggata cattgtggat gatgccttct cttggacctt
     1021 tctaggaaga aatgttttta acaaattttg cctttctaac atgacccttt tagagtcttc
     1081 tctccaagaa ctaaacaaac agttctccca gctatccagt gaccccaaca atcagaagat
     1141 agtgtttcag gaaatagtca gaatgctgtc tttcttctca caagtgcaag agcagaaagc
     1201 tgtgtggcag cttctgtcta gttttccaaa tgtgtttcag aatgacacat cactaagcaa
     1261 tctatttgat gttcttcgaa aggcaaacag tgtgctgctg gttgtgcaga aggtttatcc
     1321 acgttttgca actaacgaag gtttcagaac cctccagaag tctgttaaac atctgctgta
     1381 cactctggac tccccagctc aaggtgactc cgataatata acgcatgtgt ggaatgagga
     1441 tgatggacag accttatctc caagcagtct ggctgcacag ctcctaattc tggaaaactt
     1501 tgaagatgcc ctcttaaata tatcagcaaa tagtccttat attccttact tggcatgtgt
     1561 gagaaatgtg actgacagtt tggccagagg ttcaccagaa aatctaagac tcctgcagtc
     1621 cacaatacga tttaaaaaat cttttcttcg caatggttcc tatgaagatt actttcctcc
     1681 agttcctgaa gtcctaaaat caaaactgtc tcaacttcga aacttgaccg aacttctttg
     1741 tgaatctgaa actttcagtt tgatagagaa gtcatgccag ctctctgata tgagctttgg
     1801 gagcctgtgt gaagaaagtg agtttgatct gcaactcctc gaagcggcag agctgggcac
     1861 cgaaatagca gccagcttac tgtaccatga caatgtcata tctaaaaaag tgagagattt
     1921 gctgactgga gatccaagca aaattaattt aaatatggat cagtttctag aacaggcact
     1981 gcaaatgaat tacttggaaa atatcactca gttaataccg atcatagaag ccatgctgca
     2041 tgtcaataac agtgcagatg cttctgaaaa gccaggtcag ttactagaaa tgtttaaaaa
     2101 tgttgaagag ctgaaagaag atttaaggag aacaacagga atgtccaaca ggactattga
     2161 caagttgctg gccattccca tccctgataa tagagctgag attatttctc aggtgttctg
     2221 gctgcattcc tgtgatacta atatcaccac tcccaaacta gaagatgcaa tgaaagaatt
     2281 ctgcaacctg tctctttcag agagatcccg gcagtcttac ctcatcggac tcacccttct
     2341 gcactactta aacatttaca acttcacata caaggtgttt ttcccgagga aagatcaaaa
     2401 gccagtagaa aagatgatgg agctcttcat aagactaaaa gagattctca atcagatggc
     2461 ttctggcaca catccgctgc tagacaaaat gagatccctg aagcaaatgc atctgcccag
     2521 aagtgttcca ttaacacagg caatgtacag aagcaaccga atgaacacac cacaaggatc
     2581 atttagcacc atctcccaag cattatgttc tcaaggaatt accactgaat atttaactgc
     2641 catgctgccc tcttcccaga ggccaaaagg caaccacacc aaggattttt tgacttataa
     2701 attaactaaa gagcaaattg cttcaaaata tggaattccc ataaattcca caccattttg
     2761 cttctccctt tataaagaca tcattaacat gcccgctgga cctgtgattt gggctttctt
     2821 gaaacctatg ttgttgggaa gaattttgta tgcaccatat aacccagtca caaaggcaat
     2881 aatggaaaag tccaatgtaa ctctgagaca gctggcggaa ttaagagaaa aatctcaaga
     2941 gtggatggat aagtcgccac ttttcatgaa ttccttccat ctgttaaacc aggcaattcc
     3001 aatgctccag aatactctaa ggaacccttt tgtgcaagtt tttgtaaagt tctccgtggg
     3061 actcgatgct gttgaactat tgaaacagat agatgaactc gatattctaa gactgaaatt
     3121 agagaacaac attgacatca tcgatcagct taacacacta tcttccctga cagtaaatat
     3181 ttcctcttgt gtattatatg accgtattca ggcagcaaaa accatagatg aaatggagag
     3241 agaggctaaa aggctctaca aaagcaacga actctttgga agtgttattt ttaagcttcc
     3301 ttctaacaga agctggcaca gaggctatga ctctggaaat gtctttcttc ctcctgtcat
     3361 aaaatatacc atccggatga gtctcaagac cgcacagacc acaagaagcc taagaaccaa
     3421 gatttgggct ccagggccac acaattctcc atcacacaac cagatctatg gcagggcttt
     3481 tatttattta caggatagta ttgaaagagc aatcattgaa ttgcaaactg gaaggaactc
     3541 ccaggaaata gcagtccagg ttcaagcaat tccttatccc tgcttcatga aagacaactt
     3601 cctaaccagt gtctcttatt ctcttccaat tgtgcttatg gttgcctggg ttgtatttat
     3661 agctgccttt gtaaaaaagc ttgtctatga gaaagacctc cggcttcatg agtacatgaa
     3721 gatgatgggt gtgaactcct gcagccattt ctttgcctgg cttatagaga gtgttggatt
     3781 tttactggtt accatcgtga tcctcatcat tatactcaag tttggcaata ttcttcctaa
     3841 aacaaatggg ttcattttgt tcctgtattt ttcggactac agcttctcgg ttattgccat
     3901 gagctatctt atcagtgtct tcttcaacaa caccaacatt gcagctctga tcggaagcct
     3961 catctacatc attgccttct ttccatttat tgttctggtt acagtggaga atgagttgag
     4021 ctatgtattg aaagtgttca tgagcctgct gtccccaaca gcattcagct atgcaagcca
     4081 atacattgca cgatacgaag aacagggcat tggtcttcag tgggaaaata tgtacacctc
     4141 cccggttcag gatgacacca cctcatttgg ctggctgtgc tgtctaatcc tagctgactc
     4201 tttcatttat ttccttattg cttggtatgt caggaatgtc ttcccaggga catacggtat
     4261 ggcagctccc tggtattttc caattcttcc ttcctattgg aaggagcgat ttgggtgtgc
     4321 agaggtgaag cctgagaaga gcaatggcct catgtttact aacatcatga tgcagaacac
     4381 caacccatct gccagtcctg aatacatgtt ttcctctaac atcgagcctg aacctaaaga
     4441 tctcacagtc ggggttgccc tgcatggggt cacaaagatc tatggctcaa aagttgctgt
     4501 tgataacctc aatctgaact tttatgaagg gcatattact tcattgctgg ggcccaatgg
     4561 agctgggaaa actactacca tttccatgtt aactgggctg tttggggcct cagcaggcac
     4621 catttttgta tatggaaaag atatcaaaac agacctacac acggtacgga agaacatggg
     4681 agtctgtatg cagcacgacg tcttgttcag ttacctcact actaaggagc accttctcct
     4741 atatggttcc atcaaagttc ctcactggac taaaaagcag ctccacgagg aagtaaaaag
     4801 gactttaaaa gatactggac tatatagcca tcgtcataag agagttggaa cactgtcagg
     4861 aggcatgaag aggaagttat ctatatccat agctctcatt ggtggatcaa gggtagtaat
     4921 tttggatgaa ccatctactg gagttgaccc atgttctcgc cgaagtatat gggatgttat
     4981 atccaagaac aaaactgcca gaacaatcat tctgtcaacg caccacttgg acgaggctga
     5041 agtgctgagt gaccgcatcg ccttcctgga gcagggtggg cttaggtgct gtgggtcccc
     5101 attttacctc aaggaagcct ttggcgatgg gtatcacctc acgcttacca agaagaagag
     5161 tccaaattta aatgcaaatg cagtatgtga caccatggcc gtgacagcaa tgatccaatc
     5221 acatctcccc gaagcctacc tcaaggagga tattggggga gagcttgttt atgtacttcc
     5281 tccattcagc accaaagtct caggggccta cctgtcactc ctacgggcac tcgacaatgg
     5341 catgggtgac ctcaacatcg ggtgctacgg catttcagat accaccgtgg aggaggtctt
     5401 tctgaacttg accaaagagt cacaaaaaaa tagtgctatg agtcttgagc acttaacaca
     5461 aaagaaaatt gggaattcca atgccaatgg catctcaact cctgacgatt tatctgtgag
     5521 cagcagcaat ttcacagaca gagatgacaa aatcctgaca agaggagaga ggctggatgg
     5581 ctttggactg ttgctgaaga agatcatggc tatactcatc aagaggttcc accacacccg
     5641 caggaactgg aaaggtctca ttgctcaggt tatcctcccc atcgtctttg ttaccactgc
     5701 catgggcctt ggcacactga gaaattccag caacagttat ccagagattc agatctcccc
     5761 ctctctttat ggtacctccg aacagacagc cttctatgct aattatcacc cgagcacgga
     5821 agcacttgtc tcagcaatgt gggacttccc tggaattgac aacatgtgtc tgaacaccag
     5881 tgatctacag tgtttaaaca aagacagtct ggaaaaatgg aacaccagtg gagaacccat
     5941 cactaatttt ggtgtttgct cctgctcaga aaatgtccag gaatgtccta aatttaacta
     6001 ttccccaccg cacagaagaa cttactcatc ccaggtaatt tataacctca ctgggcaacg
     6061 agtggaaaat tatcttatat caactgcaaa tgagtttgtc caaaaaagat atggaggttg
     6121 gagttttggg ctgcctttga caaaagacct tcgttttgat ataacaggag tccctgccaa
     6181 tagaacactt gccaaggtat ggtatgatcc agaaggctat cactcccttc cagcttacct
     6241 caacagcctg aataatttcc ttctgcgagt taacatgtca aaatacgatg ctgcccgaca
     6301 tggcatcatc atgtatagcc atccttatcc aggagtgcaa gaccaagaac aagccacaat
     6361 cagcagttta atcgatattt tagtggcact gtctatcttg atgggctact ctgtcaccac
     6421 cgccagcttt gtcacctatg ttgtaaggga acatcaaacc aaagccaaac agttgcagca
     6481 catttcaggc attggcgtga catgctactg ggtaacaaac ttcatttatg acatggtttt
     6541 ctacttggtg cctgtagcgt tttcaattgg tatcattgcg attttcaaat tacctgcatt
     6601 ctacagtgaa aacaacctag gcgctgtatc tctcctactt ctcctgtttg ggtatgcaac
     6661 attttcctgg atgtacttgc tggctgggct cttccatgaa acaggaatgg ccttcatcac
     6721 ttacgtctgt gtcaacttgt tttttggcat taattccatt gtttccctgt cagtggtata
     6781 ctttctttcc aaggaaaagc ctaatgatcc gactttagaa cttatttctg aaaccctcaa
     6841 gcgcattttc ctgattttcc cacaattctg ttttggctac ggtttgattg aactttctca
     6901 acaacagtcg gtcctagact tcttaaaagc atatggagtg gaatacccaa atgaaacctt
     6961 tgagatgaat aaactaggtg caatgtttgt ggctttggtt tctcagggca ccatgttttt
     7021 ttccttgcga ctcttaatca acgaatccct gataaagaaa ctcaggcttt tcttcagaaa
     7081 atttaattct tcacatgtaa gggagacaat agatgaggat gaagatgtgc gggctgagag
     7141 attaagagtt gagagtggtg cagctgaatt tgacttggtc caactttatt gtctcacaaa
     7201 gacctaccaa cttatccaca aaaagattat agctgtaaac aacatcagca ttgggatacc
     7261 tgctggagag tgttttgggc ttcttggagt gaatggagca ggaaagacca ctatattcaa
     7321 gatgctgaca ggagacatca ttccttcaag tggaaacatt ctgatcagaa ataagaccgg
     7381 atctctgggt cacgttgatt ctcacagctc attagttggc tactgtcctc aggaagatgc
     7441 cttagatgac ctggtaactg tggaagaaca tttgtatttc tatgccaggg tacatggaat
     7501 tccagaaaag gatattaaag aaactgttca taaactcctt aggagacttc acctgatgcc
     7561 cttcaaggac agagctacct ctatgtgcag ttatggcaca aaaagaaaat tatccactgc
     7621 actggccttg atagggaaac cttccattct actgctggat gagccgagct ctggcatgga
     7681 tccgaagtcg aaacggcacc tctggaagat catttcagaa gaagtacaga acaaatgttc
     7741 cgtcatcctc acatctcaca gcatggaaga atgtgaagct ctctgtacca ggttggccat
     7801 tatggtgaat ggaaagtttc aatgtattgg atctttgcag cacataaaga gcaggtttgg
     7861 acgaggattt actgtcaaag ttcacttgaa gaataacaaa gtgaccatgg agaccctcac
     7921 aaagttcatg cagctgcact ttccaaaaac atacttaaaa gatcagcacc tcagcatgct
     7981 agagtatcat gtaccagtca cagcaggagg agtcgcaaac atttttgatc tgctggaaac
     8041 caacaagact gctttaaata ttacaaattt cttagtgagt cagaccactc tggaagaggt
     8101 tttcatcaac tttgccaaag accagaagtc ctatgaaact gctgatacca gcagccaagg
     8161 ttccactata agtgttgact cacaagatga ccagatggag tcttaacact tccagcaaac
     8221 tcaatctcag cgtgtgacca atggcttcat tttgaagaaa agccacagaa gatacacttc
     8281 cgcaagatat cttcatttta aagtaaagta atatactgta tggaaagtta caactgtgtt
     8341 agactaacaa gtaattataa aaggaaattt ttccttctaa ggtcagtgag tgttgttgct
     8401 actgaaatga attcctgtat actcaacact gtgagcatgc taatgtatat gctggtgatt
     8461 cttatgcaaa ggtgaagcca cctcaagatg aatatcttaa tttattactt tcaataaaaa
     8521 gacagtttaa aaggcatgga ttttggtagt tgaaatataa gagtggagaa gaaaagtcag
     8581 atggtttgtg gcaggtgcca ccgggcaagc agacaacata atttatttcc agaaaacaac
     8641 agaatgaaca tcatcatgaa tacatgaatc ggctgtgatg tgtgaactgc taagggccaa
     8701 atgaacgttt gcagagcagt gggcacaatg tttacaatgt atgtgtatgt cactttcggt
     8761 acctgtgaat gcatggggac gtgctgaacc cgaaaaaaag tgcctttcca taaggactgc
     8821 aatagagagg gcaatttacc ctggtggtac acggaaccta gattcactcc tgccatgcct
     8881 tgccaatagt aagctgcagg gtggaacaag aaatcacttg ctctgggggg aagggagggg
     8941 ggaatgggtg tgtcagctgg gtagatacaa accctgaaaa gagaatccat gtgctactgg
     9001 caggcaacat tttttaaagc tctttcagaa accctcatat ttggggtttc ttttcaggaa
     9061 acattcctgt ggagggaaaa cgaatatgaa gataattttc agctaattat ctgggtgacc
     9121 cagaatcgtg tatatggcta taggatagac ttcttaataa tggcaagtga cgtggccctg
     9181 gggaaaggtg ctttatgtac cgtgtgtgcg tgtatgtgtg tgtatctata caagtttgtc
     9241 agctttggca tgactgtttg tctcgaaaac caataaactc aaagtttaga aaaactca
//
