LOCUS       NM_145804               4905 bp    mRNA    linear   PRI 22-NOV-2024
DEFINITION  Homo sapiens ankyrin repeat and BTB domain containing 2 (ABTB2),
            mRNA.
ACCESSION   NM_145804
VERSION     NM_145804.3
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 4905)
  AUTHORS   Segal,D., Maier,S., Mastromarco,G.J., Qian,W.W., Nabeel-Shah,S.,
            Lee,H., Moore,G., Lacoste,J., Larsen,B., Lin,Z.Y.,
            Selvabaskaran,A., Liu,K., Smibert,C., Zhang,Z., Greenblatt,J.,
            Peng,J., Lee,H.O., Gingras,A.C. and Taipale,M.
  TITLE     A central chaperone-like role for 14-3-3 proteins in human cells
  JOURNAL   Mol Cell 83 (6), 974-993 (2023)
   PUBMED   36931259
REFERENCE   2  (bases 1 to 4905)
  AUTHORS   Carvill,G.L., Weckhuysen,S., McMahon,J.M., Hartmann,C.,
            Moller,R.S., Hjalgrim,H., Cook,J., Geraghty,E., O'Roak,B.J.,
            Petrou,S., Clarke,A., Gill,D., Sadleir,L.G., Muhle,H., von
            Spiczak,S., Nikanorova,M., Hodgson,B.L., Gazina,E.V., Suls,A.,
            Shendure,J., Dibbens,L.M., De Jonghe,P., Helbig,I., Berkovic,S.F.,
            Scheffer,I.E. and Mefford,H.C.
  TITLE     GABRA1 and STXBP1: novel genetic causes of Dravet syndrome
  JOURNAL   Neurology 82 (14), 1245-1253 (2014)
   PUBMED   24623842
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL035079.14, AK291744.1, AC090469.9 and AL050374.1.
            
            On Nov 22, 2018 this sequence version replaced NM_145804.2.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK095632.1, AK291744.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000435224.3/ ENSP00000410157.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2                 AL035079.14        117450-117451
            3-54                AK291744.1         2-53
            55-1177             AL035079.14        117504-118626
            1178-3777           AK291744.1         1177-3776
            3778-3778           AC090469.9         84224-84224
            3779-4905           AL050374.1         549-1675
FEATURES             Location/Qualifiers
     source          1..4905
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p13"
     gene            1..4905
                     /gene="ABTB2"
                     /gene_synonym="ABTB2A; BTBD22; CCA3"
                     /note="ankyrin repeat and BTB domain containing 2"
                     /db_xref="GeneID:25841"
                     /db_xref="HGNC:HGNC:23842"
                     /db_xref="MIM:621014"
     exon            1..1310
                     /gene="ABTB2"
                     /gene_synonym="ABTB2A; BTBD22; CCA3"
                     /inference="alignment:Splign:2.1.0"
     CDS             428..3505
                     /gene="ABTB2"
                     /gene_synonym="ABTB2A; BTBD22; CCA3"
                     /note="ankyrin repeat and BTB (POZ) domain containing 2"
                     /codon_start=1
                     /product="ankyrin repeat and BTB/POZ domain-containing
                     protein 2"
                     /protein_id="NP_665803.2"
                     /db_xref="CCDS:CCDS7890.2"
                     /db_xref="GeneID:25841"
                     /db_xref="HGNC:HGNC:23842"
                     /db_xref="MIM:621014"
                     /translation="MAGTYSSTLKTLEDLTLDSGYGAGDSCRSLSLSSSKSNSQALNS
                     SAQQHRGAAWWCYSGSMNSRHNSWDTVNTVLPEDPEVADLFSRCPRLPELEEFPWTEG
                     DVARVLRKGAGGRRLPQFSAEAVRRLAGLLRRALIRVAREAQRLSVLHAKCTRFEVQS
                     AVRLVHSWALAESCALAAVKALSLYSMSAGDGLRRGKSARCGLTFSVGRFFRWMVDTR
                     ISVRIHEYAAISLTACMENLVEEIRARVMASHSPDGGGAGGGEVSAEALEMVINNDAE
                     LWGVLQPYEHLICGKNANGVLSLPAYFSPYNGGSLGHDERADAYAQLELRTLEQSLLA
                     TCVGSISELSDLVSRAMHHMQGRHPLCPGASPARQARQPPQPITWSPDALHTLYYFLR
                     CPQMESMENPNLDPPRMTLNNERPFMLLPPLMEWMRVAITYAEHRRSLTVDSGDIRQA
                     ARLLLPGLDCEPRQLKPEHCFSSFRRLDARAATEKFNQDLGFRMLNCGRTDLINQAIE
                     ALGPDGVNTMDDQGMTPLMYACAAGDEAMVQMLIDAGANLDIQVPSNSPRHPSIHPDS
                     RHWTSLTFAVLHGHISVVQLLLDAGAHVEGSAVNGGEDSYAETPLQLASAAGNYELVS
                     LLLSRGADPLLSMLEAHGMGSSLHEDMNCFSHSAAHGHRNVLRKLLTQPQQAKADVLS
                     LEEILAEGVEESDASSQGSGSEGPVRLSRTRTKALQEAMYYSAEHGYVDITMELRALG
                     VPWKLHIWIESLRTSFSQSRYSVVQSLLRDFSSIREEEYNEELVTEGLQLMFDILKTS
                     KNDSVIQQLATIFTHCYGSSPIPSIPEIRKTLPARLDPHFLNNKEMSDVTFLVEGKLF
                     YAHKVLLVTASNRFKTLMTNKSEQDGDSSKTIEISDMKYHIFQMMMQYLYYGGTESME
                     IPTTDILELLSAASLFQLDALQRHCEILCSQTLSMESAVNTYKYAKIHNAPELALFCE
                     GFFLKHMKALLEQDAFRQLIYGRSSKVQGLDPLQDLQNTLAERVHSVYITSRV"
     exon            1311..1457
                     /gene="ABTB2"
                     /gene_synonym="ABTB2A; BTBD22; CCA3"
                     /inference="alignment:Splign:2.1.0"
     exon            1458..1671
                     /gene="ABTB2"
                     /gene_synonym="ABTB2A; BTBD22; CCA3"
                     /inference="alignment:Splign:2.1.0"
     exon            1672..1824
                     /gene="ABTB2"
                     /gene_synonym="ABTB2A; BTBD22; CCA3"
                     /inference="alignment:Splign:2.1.0"
     exon            1825..1990
                     /gene="ABTB2"
                     /gene_synonym="ABTB2A; BTBD22; CCA3"
                     /inference="alignment:Splign:2.1.0"
     exon            1991..2080
                     /gene="ABTB2"
                     /gene_synonym="ABTB2A; BTBD22; CCA3"
                     /inference="alignment:Splign:2.1.0"
     exon            2081..2182
                     /gene="ABTB2"
                     /gene_synonym="ABTB2A; BTBD22; CCA3"
                     /inference="alignment:Splign:2.1.0"
     exon            2183..2279
                     /gene="ABTB2"
                     /gene_synonym="ABTB2A; BTBD22; CCA3"
                     /inference="alignment:Splign:2.1.0"
     exon            2280..2415
                     /gene="ABTB2"
                     /gene_synonym="ABTB2A; BTBD22; CCA3"
                     /inference="alignment:Splign:2.1.0"
     exon            2416..2645
                     /gene="ABTB2"
                     /gene_synonym="ABTB2A; BTBD22; CCA3"
                     /inference="alignment:Splign:2.1.0"
     exon            2646..2824
                     /gene="ABTB2"
                     /gene_synonym="ABTB2A; BTBD22; CCA3"
                     /inference="alignment:Splign:2.1.0"
     exon            2825..2930
                     /gene="ABTB2"
                     /gene_synonym="ABTB2A; BTBD22; CCA3"
                     /inference="alignment:Splign:2.1.0"
     exon            2931..3033
                     /gene="ABTB2"
                     /gene_synonym="ABTB2A; BTBD22; CCA3"
                     /inference="alignment:Splign:2.1.0"
     exon            3034..3124
                     /gene="ABTB2"
                     /gene_synonym="ABTB2A; BTBD22; CCA3"
                     /inference="alignment:Splign:2.1.0"
     exon            3125..3193
                     /gene="ABTB2"
                     /gene_synonym="ABTB2A; BTBD22; CCA3"
                     /inference="alignment:Splign:2.1.0"
     exon            3194..3307
                     /gene="ABTB2"
                     /gene_synonym="ABTB2A; BTBD22; CCA3"
                     /inference="alignment:Splign:2.1.0"
     exon            3308..4905
                     /gene="ABTB2"
                     /gene_synonym="ABTB2A; BTBD22; CCA3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4884..4889
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ABTB2"
                     /gene_synonym="ABTB2A; BTBD22; CCA3"
                     /note="hexamer: AATAAA"
     polyA_site      4905
                     /gene="ABTB2"
                     /gene_synonym="ABTB2A; BTBD22; CCA3"
                     /note="major polyA site"
ORIGIN      
        1 gcagaagttt gcagagcgct ttctcgccgg ctggtcccgg actcgcgctg cgccctgcgc
       61 cctgcgccgc cgcctcctcc ttctgccgcc gccgccctgt tctcccggga ttccttctct
      121 gtggaggact gactctctgc ttgtgggaat tagaggtgga caagggggag tgccgggggg
      181 tagcgacggg gttctttcca gtggcagctg cgagtcggga cgccgggagc gtggggctcc
      241 tgctggccac ggatctcggc caccttcccg cggcctccgg gcaggcaatg cggccgccga
      301 gccccgcgac gcagagagga aggagggtgg cccggagggc ctagagcttg tttctgccca
      361 cttgggaaag agggcatgga gttgtgagtg cccctcgctc ggcgacgccg ccctcggcag
      421 gctccccatg gccgggacgt acagctcgac tctgaagacg ctggaggact tgaccttgga
      481 ctccgggtat ggggccgggg actcgtgccg ctcgctcagc ctctcgtcct ccaagtccaa
      541 ctcgcaggcg ctcaactctt cggcgcagca gcaccgcggg gcggcctggt ggtgctactc
      601 cggctccatg aacagccgcc acaacagctg ggacacggtg aacacggtgc tgcccgagga
      661 ccccgaagtg gccgacctct tctcgcgctg tccgcggctc cccgagctgg aggagttccc
      721 ctggaccgaa ggagacgtgg cccgggtgct ccgcaaaggc gctggcggcc ggcggctgcc
      781 ccagttctcc gccgaggcgg tgaggcgcct ggccgggctg ctccgcaggg cactgatccg
      841 cgtggcccgc gaggcgcagc gcctgagcgt gctgcacgcc aagtgcaccc gctttgaggt
      901 gcagagcgcc gtgcgcctgg tgcacagctg ggcgctggcc gagagctgcg cgctggcagc
      961 cgtcaaggcg ctgtccctgt acagcatgag cgccggcgac gggctgcgcc ggggcaagtc
     1021 cgcgcgctgc ggcctcacct tctcagtggg tcgctttttc cgctggatgg tggacacccg
     1081 aatctccgtg cgcatccacg agtacgcagc catctccctc accgcctgca tggagaacct
     1141 ggtggaggag atccgggcca gggtgatggc cagccacagc cctgatggcg gaggggccgg
     1201 aggcggggag gtgtctgctg aggccctgga gatggtcatc aacaacgacg ccgagctctg
     1261 gggcgtcttg cagccctatg agcatctcat ctgcggcaag aacgccaatg gtgtcctctc
     1321 cctccccgca tacttcagcc cctacaacgg cgggtccctg ggccatgacg agcgagccga
     1381 tgcctatgcc cagctggagc tccgaaccct ggagcagtcc ctcctggcca cctgcgtggg
     1441 cagcatctcg gagctgagtg acttggtctc ccgtgccatg caccacatgc aggggcgtca
     1501 ccccctgtgc ccgggtgcca gccctgcccg ccaggcccgc cagccgccac agcccatcac
     1561 ttggtccccc gacgccctcc acacgctcta ctactttctg cggtgtccac agatggagtc
     1621 catggagaac cccaacctgg accccccgag aatgaccttg aacaatgaac ggcccttcat
     1681 gctgctgccg cccctcatgg agtggatgcg cgtggccatc acctacgcag agcaccgccg
     1741 cagcctcacc gtggacagcg gcgacatccg gcaggcagcc cggctgctgc tgcctggtct
     1801 ggactgtgaa cctcggcagc tcaaacccga acactgtttc agttccttcc ggaggctgga
     1861 tgcccgagca gctactgaaa aattcaacca ggacctgggt ttccgcatgc tcaactgtgg
     1921 gaggacggac ctcatcaacc aagccatcga ggccttgggt ccggatgggg ttaacaccat
     1981 ggatgaccag ggtatgacgc cactgatgta cgcctgcgct gctggggacg aagcgatggt
     2041 ccagatgttg attgatgctg gggcaaactt ggacatccag gttccaagca actcccccag
     2101 gcacccttcc atccaccccg acagccggca ctggacctca ctgacattcg ctgtgctgca
     2161 tggacacatc tctgtggtcc agttgctgct ggatgctggt gcccatgtcg agggctcggc
     2221 agtgaacggc ggcgaggaca gctatgcgga gacgcccctg cagctggcct ctgcggcagg
     2281 gaactatgag ctggtcagtt tgttgctgag ccgaggcgcc gaccccctcc tcagcatgct
     2341 ggaggcccac ggcatgggct cctccctcca cgaggacatg aactgcttca gccactcagc
     2401 tgcccacggc cacaggaacg tcctgaggaa gctcctgacg cagccacagc aggctaaagc
     2461 ggacgtgctg tccctggagg agatcctggc cgagggtgtg gaggaaagtg atgcgtcgag
     2521 ccagggcagt ggcagcgagg ggcccgtgcg gctgagccgg acccgcacca aggccctaca
     2581 ggaggccatg tactacagcg ctgagcacgg ctacgtggac atcaccatgg agctgagggc
     2641 actgggagtc ccctggaagc tgcacatctg gatcgagtct ctgaggacct cgttctcgca
     2701 gtcgcggtac tcggtggtgc agagcctcct gcgggacttc agctccatca gagaggagga
     2761 gtacaacgag gagctggtga ccgagggctt gcagctcatg ttcgacatcc tcaagaccag
     2821 caaaaacgac tccgtcatcc agcaactggc taccatcttc acccactgct atggcagcag
     2881 tcccatcccc agcatcccag agatccggaa gaccctgccg gccaggctag atccacactt
     2941 tttgaacaat aaggagatgt cagatgtgac cttcctggtg gaaggaaagc tgttttatgc
     3001 acataaagtc ctgctggtga cagcttctaa caggttcaag acactaatga ccaataaatc
     3061 agaacaggat ggggacagca gcaagaccat cgagatcagc gacatgaagt accacatttt
     3121 tcagatgatg atgcagtatc tgtactacgg aggaacagaa tccatggaga tccccaccac
     3181 tgacatcctg gagctgctgt cagctgccag cctgttccag ctggatgccc tgcagaggca
     3241 ctgcgagatc ctgtgctccc agaccctcag catggagagt gccgtgaaca cctacaaata
     3301 tgccaagatc cacaatgccc cagaactggc cctgttctgt gagggcttct tcctcaagca
     3361 catgaaggcc ctactggagc aggatgcctt ccggcagctc atctacggcc gcagcagcaa
     3421 agtgcagggc ctggatccac tgcaggacct gcagaacacc ctggcagagc gcgtgcactc
     3481 tgtctacatc acctcccggg tgtgaggcag ggggcggagg ctgccgaggc cagggcctgt
     3541 ggaggtgcca gggcccacca tgtcggggta tggttgtagg ccctcttgga gccaggttca
     3601 cggggctgtt tcctcctcct cccccagatg tcccccctgt caccgggcag ctcaccctca
     3661 tctcctctgc cctagagctg tttgttcaat cactgatggg caaaggggag atgtagctaa
     3721 ctggtggccc tcctccccat ctcagtttgc aactcaaggg cagccatgca ctcccccggg
     3781 gtgtcgctct cccctcctgc aggtcagcag ctgatcctga tccacctccg cccaggccct
     3841 ccaagctcta ctcaccccta gggcctcagt aaactcagac catcccaact ggggctcctg
     3901 ggggtacagg aatccttatg aatgtataga atgcatactg cctaggcccc cagtcgtctg
     3961 cagtaattca aaagctggta tttttcttcc taaatgtcac atagcaaagg ctgcccaaat
     4021 ccccaaactt gttcttcaaa ggtttgacag gcttaatgtg ggcatccagt ggcctgtgga
     4081 cccccccctg ccaccacgac tgctgccacc cggagttccc ccattgtctt tggtgcctgg
     4141 gcttccagag tccctcccat caggactacc agcttgctca gttagcagca gagggcagtt
     4201 ccccagcttg atggtttctg agctaagtct ggcatggagg ggcaaggggt aggggatggg
     4261 gtgctgtgta ggaatggcct cagctcttgt tttgctgctg gttttagggg ccaaagtaaa
     4321 tgggtggatt ctggaacctc aggcctagac taggttgcct ttgtgggggc gatgaagcag
     4381 agtcccctgg tcaagtctct cggctccttt aatgtaggat tgagagctgg gcaaacaggt
     4441 cccactgggg actgtgactc ttggagatta aaggacaggg cattgatgga aggtaagggc
     4501 caggagaaga ggcctttctg ctgtgtcccc tcacggcctt gccctcgaat tctgcaggcc
     4561 ctgggctccc ctgacacctg tcatatttat ggaccagaca ctggggcagc atcaggcaca
     4621 gtctgtctgg gtgcaacttc ttcagctgtc tggccgcacc ttaaaaacta tttattcacc
     4681 aaaagcccca ggcatttcag aaggtggcac tcaggtcacc ctgaaaagcc cccaggggct
     4741 tgcaattctg gaaaatattt tgactagctg cttggctgga tgtacaaaga aataggcatt
     4801 attttattgc tgtaatattg tatgatactt taactgtaca ataatgttgt cacttactgt
     4861 aaatgtacta tggttttatt aacaataaac actcattaac aatga
//
