LOCUS       NM_001412792            2364 bp    mRNA    linear   PRI 13-JUN-2024
DEFINITION  Homo sapiens ATP binding cassette subfamily D member 2 (ABCD2),
            transcript variant 6, mRNA.
ACCESSION   NM_001412792
VERSION     NM_001412792.1
KEYWORDS    RefSeq.
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 2364)
  AUTHORS   Tawbeh,A., Gondcaille,C., Trompier,D. and Savary,S.
  TITLE     Peroxisomal ABC Transporters: An Update
  JOURNAL   Int J Mol Sci 22 (11), 6093 (2021)
   PUBMED   34198763
  REMARK    GeneRIF: Peroxisomal ABC Transporters: An Update.
            Review article
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2364)
  AUTHORS   Park,S., Oh,J., Kim,Y.I., Choe,S.K., Chun,C.H. and Jin,E.J.
  TITLE     Suppression of ABCD2 dysregulates lipid metabolism via
            dysregulation of miR-141:ACSL4 in human osteoarthritis
  JOURNAL   Cell Biochem Funct 36 (7), 366-376 (2018)
   PUBMED   30264402
  REMARK    GeneRIF: The functional integrity of ABCD2 may play an important
            role in OA pathogenesis via the accumulation of VLCFAs and
            stimulation of apoptotic death through altering profiles of miRNAs
            that target ACSL4.
REFERENCE   3  (bases 1 to 2364)
  AUTHORS   Okamoto,T., Kawaguchi,K., Watanabe,S., Agustina,R., Ikejima,T.,
            Ikeda,K., Nakano,M., Morita,M. and Imanaka,T.
  TITLE     Characterization of human ATP-binding cassette protein subfamily D
            reconstituted into proteoliposomes
  JOURNAL   Biochem Biophys Res Commun 496 (4), 1122-1127 (2018)
   PUBMED   29397936
REFERENCE   4  (bases 1 to 2364)
  AUTHORS   Kawaguchi,K. and Morita,M.
  TITLE     ABC Transporter Subfamily D: Distinct Differences in Behavior
            between ABCD1-3 and ABCD4 in Subcellular Localization, Function,
            and Human Disease
  JOURNAL   Biomed Res Int 2016, 6786245 (2016)
   PUBMED   27766264
  REMARK    GeneRIF: ABCD1 and ABCD2 are involved in the transport of long and
            very long chain fatty acids (VLCFA) or their CoA-derivatives into
            peroxisomes with different substrate specificities, while ABCD3 is
            involved in the transport of branched chain acyl-CoA into
            peroxisomes.ABCD4 is deduced to take part in the transport of
            vitamin B12 from lysosomes into the cytosol.
            Review article
REFERENCE   5  (bases 1 to 2364)
  AUTHORS   Li,Q., Zhu,X., Feng,C., Fang,M. and Liu,X.
  TITLE     Duration of symptom and ABCD2 score as predictors of risk of early
            recurrent events after transient ischemic attack: a hospital-based
            case series study
  JOURNAL   Med Sci Monit 21, 262-267 (2015)
   PUBMED   25604068
  REMARK    GeneRIF: ABCD2 has a role, but not a strong one, in risk of early
            recurrent events after transient ischemic attack
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2364)
  AUTHORS   Holzinger,A., Mayerhofer,P., Berger,J., Lichtner,P., Kammerer,S.
            and Roscher,A.A.
  TITLE     Full length cDNA cloning, promoter sequence, and genomic
            organization of the human adrenoleukodystrophy related (ALDR) gene
            functionally redundant to the gene responsible for X-linked
            adrenoleukodystrophy
  JOURNAL   Biochem Biophys Res Commun 258 (2), 436-442 (1999)
   PUBMED   10329405
REFERENCE   7  (bases 1 to 2364)
  AUTHORS   Netik,A., Forss-Petter,S., Holzinger,A., Molzer,B., Unterrainer,G.
            and Berger,J.
  TITLE     Adrenoleukodystrophy-related protein can compensate functionally
            for adrenoleukodystrophy protein deficiency (X-ALD): implications
            for therapy
  JOURNAL   Hum Mol Genet 8 (5), 907-913 (1999)
   PUBMED   10196381
REFERENCE   8  (bases 1 to 2364)
  AUTHORS   Holzinger,A., Kammerer,S., Berger,J. and Roscher,A.A.
  TITLE     cDNA cloning and mRNA expression of the human adrenoleukodystrophy
            related protein (ALDRP), a peroxisomal ABC transporter
  JOURNAL   Biochem Biophys Res Commun 239 (1), 261-264 (1997)
   PUBMED   9345306
REFERENCE   9  (bases 1 to 2364)
  AUTHORS   Savary,S., Troffer-Charlier,N., Gyapay,G., Mattei,M.G. and
            Chimini,G.
  TITLE     Chromosomal localization of the adrenoleukodystrophy-related gene
            in man and mice
  JOURNAL   Eur J Hum Genet 5 (2), 99-101 (1997)
   PUBMED   9195160
REFERENCE   10 (bases 1 to 2364)
  AUTHORS   Lombard-Platet,G., Savary,S., Sarde,C.O., Mandel,J.L. and
            Chimini,G.
  TITLE     A close relative of the adrenoleukodystrophy (ALD) gene codes for a
            peroxisomal protein with a specific expression pattern
  JOURNAL   Proc Natl Acad Sci U S A 93 (3), 1265-1269 (1996)
   PUBMED   8577752
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC125491.1 and AC121334.5.
            
            Summary: The 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
            intra-cellular membranes. ABC genes are divided into seven distinct
            subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This
            protein is a member of the ALD subfamily, which is involved in
            peroxisomal import of fatty acids and/or fatty acyl-CoAs in the
            organelle. All known peroxisomal ABC transporters are half
            transporters which require a partner half transporter molecule to
            form a functional homodimeric or heterodimeric transporter. The
            function of this peroxisomal membrane protein is unknown; however
            this protein is speculated to function as a dimerization partner of
            ABCD1 and/or other peroxisomal ABC transporters. Mutations in this
            gene have been observed in patients with adrenoleukodystrophy, a
            severe demyelinating disease. This gene has been identified as a
            candidate for a modifier gene, accounting for the extreme variation
            among adrenoleukodystrophy phenotypes. This gene is also a
            candidate for a complement group of Zellweger syndrome, a
            genetically heterogeneous disorder of peroxisomal biogenesis.
            [provided by RefSeq, Jul 2008].
            
            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 :: SRR14038192.3762551.1,
                                           SRR18074968.441875.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2150585 [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-153               AC125491.1         109108-109260
            154-1127            AC121334.5         1-974
            1128-1308           AC121334.5         2483-2663
            1309-1424           AC121334.5         11937-12052
            1425-1593           AC121334.5         14721-14889
            1594-1688           AC121334.5         15645-15739
            1689-1834           AC121334.5         18935-19080
            1835-2364           AC121334.5         25888-26417
FEATURES             Location/Qualifiers
     source          1..2364
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q12"
     gene            1..2364
                     /gene="ABCD2"
                     /gene_synonym="ABC39; ALDL1; ALDR; ALDRP; hALDR"
                     /note="ATP binding cassette subfamily D member 2"
                     /db_xref="GeneID:225"
                     /db_xref="HGNC:HGNC:66"
                     /db_xref="MIM:601081"
     exon            1..1127
                     /gene="ABCD2"
                     /gene_synonym="ABC39; ALDL1; ALDR; ALDRP; hALDR"
                     /inference="alignment:Splign:2.1.0"
     CDS             189..1862
                     /gene="ABCD2"
                     /gene_synonym="ABC39; ALDL1; ALDR; ALDRP; hALDR"
                     /note="isoform 6 is encoded by transcript variant 6;
                     adrenoleukodystrophy-like 1; ATP-binding cassette
                     sub-family D member 2; adrenoleukodystrophy-related
                     protein; ATP-binding cassette, sub-family D (ALD), member
                     2"
                     /codon_start=1
                     /product="ATP-binding cassette sub-family D member 2
                     isoform 6"
                     /protein_id="NP_001399721.1"
                     /db_xref="GeneID:225"
                     /db_xref="HGNC:HGNC:66"
                     /db_xref="MIM:601081"
                     /translation="MTHMLNAAADRVKWTRSSAAKRAACLVAAAYALKTLYPIIGKRL
                     KQSGHGKKKAAAYPAAENTEILHCTETICEKPSPGVNADFFKQLLELRKILFPKLVTT
                     ETGWLCLHSVALISRTFLSIYVAGLDGKIVKSIVEKKPRTFIIKLIKWLMIAIPATFV
                     NSAIRYLECKLALAFRTRLVDHAYETYFTNQTYYKVINMDGRLANPDQSLTEDIMMFS
                     QSVAHLYSNLTKPILDVMLTSYTLIQTATSRGASPIGPTLLAGLVVYATAKVLKACSP
                     KFGKLVAEEAHRKGYLRYVHSRIIANVEEIAFYRGHKVEMKQLQKSYKALADQMNLIL
                     SKRLWYIMIEQFLMKYVWSSSGLIMVAIPIITATGFADGEDGQKQVMVSERTEAFTTA
                     RNLLASGADAIERIMSSYKEVTELAGYTARVYNMFWVFDEVKRGIYKRTAVIQESESH
                     SKNGAKVELPLSDTLAIKGKVIDVDHGIICENVPIITPAGEVVASRLNFKVEEGMHLL
                     ITGPNGCGKSSLFRILSGLWPVYEGVLYKPPPQHMFYIPQRMHYGLKRS"
     exon            1128..1308
                     /gene="ABCD2"
                     /gene_synonym="ABC39; ALDL1; ALDR; ALDRP; hALDR"
                     /inference="alignment:Splign:2.1.0"
     exon            1309..1424
                     /gene="ABCD2"
                     /gene_synonym="ABC39; ALDL1; ALDR; ALDRP; hALDR"
                     /inference="alignment:Splign:2.1.0"
     exon            1425..1593
                     /gene="ABCD2"
                     /gene_synonym="ABC39; ALDL1; ALDR; ALDRP; hALDR"
                     /inference="alignment:Splign:2.1.0"
     exon            1594..1688
                     /gene="ABCD2"
                     /gene_synonym="ABC39; ALDL1; ALDR; ALDRP; hALDR"
                     /inference="alignment:Splign:2.1.0"
     exon            1689..1834
                     /gene="ABCD2"
                     /gene_synonym="ABC39; ALDL1; ALDR; ALDRP; hALDR"
                     /inference="alignment:Splign:2.1.0"
     exon            1835..2364
                     /gene="ABCD2"
                     /gene_synonym="ABC39; ALDL1; ALDR; ALDRP; hALDR"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 agatgcagcg gagtctgagc tctgctgcat ctgtcacagc agaacaaaat taaaaacaca
       61 acagtggaag agaaacgctg cagactatgg gacgctgtag gactttctaa aacatttgct
      121 ggggatttct gtgaagcatg atcttttaaa acgaattctt ttggaagccg gtttgggtaa
      181 ctgggaaaat gacacatatg ctaaatgcag cagctgatcg agtgaaatgg accagatcga
      241 gtgctgctaa gagggctgcc tgcctggtgg ctgcggcata tgctctgaaa accctctatc
      301 ccatcattgg caagcgttta aagcaatctg gccacgggaa gaaaaaagca gcagcttacc
      361 ctgctgcaga gaacacagaa atactgcatt gcaccgagac catttgtgaa aaaccttcgc
      421 ctggagtgaa tgcagatttc ttcaaacagc tactagaact tcggaaaatt ttgtttccaa
      481 aacttgtgac cactgaaaca gggtggctct gcctgcactc agtggctcta atctcaagaa
      541 cctttctttc tatctatgtg gctggtctgg atggaaaaat cgtgaaaagc attgtggaaa
      601 agaagcctcg gactttcatc atcaaattaa tcaagtggct tatgattgcc atccctgcta
      661 ccttcgtcaa cagtgcaata aggtacctgg aatgcaaatt ggctttggcc ttcagaactc
      721 gcctagtaga ccacgcctat gaaacctatt ttacaaatca gacttattat aaagtgatca
      781 atatggatgg gaggctggca aaccctgacc aatctcttac ggaggatatt atgatgttct
      841 cccaatctgt ggctcacttg tattccaatc tgaccaaacc tattttagat gtaatgctga
      901 cctcctatac actcattcaa actgctacat ccagaggagc aagcccaatt gggcccaccc
      961 tactagcagg acttgtggtg tatgccactg ctaaagtgtt aaaagcctgt tctcccaaat
     1021 ttggcaaact ggtggcagag gaagcacata gaaaaggcta tttgcggtat gtgcactcga
     1081 gaattatagc caatgtagaa gaaattgcct tttacagagg acataaggta gaaatgaaac
     1141 aacttcagaa aagttacaaa gctttagcag atcagatgaa cctcatttta tccaaacgtt
     1201 tgtggtacat catgatagaa cagttcctga tgaagtatgt ttggagcagc agtggactaa
     1261 ttatggtggc tatacctatt atcactgcaa ctggctttgc agatggtgag gatggccaaa
     1321 agcaagttat ggttagtgaa cggacagaag cctttaccac tgctcgaaat ttactggcct
     1381 ctggagctga tgctattgaa aggattatgt cttcatacaa agaggtcact gaattagcag
     1441 gctacactgc tcgagtgtac aatatgtttt gggtctttga tgaagtaaaa agaggcattt
     1501 ataagagaac tgctgtcatt caagaatctg aaagccatag caagaatgga gctaaggtag
     1561 aattacctct cagtgacaca ttggcaatta aaggaaaagt tattgatgtg gatcacggaa
     1621 ttatttgtga aaatgttccc ataattacac cagcaggaga agtggtggct tccaggctaa
     1681 acttcaaagt agaagaagga atgcatcttt tgataactgg tcccaatggt tgtgggaaaa
     1741 gttctctctt cagaattcta agtgggctct ggcctgtgta tgaaggagtc ctctataaac
     1801 cacctcctca acatatgttt tatattccac aaaggatgca ttatggctta aaaagatcat
     1861 gacttaccct ttatgtcatc aaaagaagag attgtcgctt gcaacagtga agacggtgtt
     1921 ttatttcaga agttctgcag aaagggcttg aaggacgata ataccaacat tggcacaact
     1981 gccctgtgca ctaagaagta cttgcaccaa ataagcttta tggatatttt aaaatatgaa
     2041 gttctgggct gggcctggtg gctcatgact gtaatcccag cactttagga ggctgaggtt
     2101 ggataatcac ttgaggccag gaatttaagg ttagccctgg caacataggg ggaccccgtc
     2161 aatacaaata ataaaaaagt agctggatat ggtggtactt gcctgtagtc ccagctactt
     2221 aagaggctga ggtgggaggg ctgcttgagt ctgggaagtt gaggctgcag tgagccatga
     2281 ttgcaccact gcactctggc ctgggcaaca gagtgagatg ctatctcaaa agaataaaaa
     2341 taaaaataaa acaaaaaaat aaaa
//
