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    ABCD2 ATP binding cassette subfamily D member 2 [ Homo sapiens (human) ]

    Gene ID: 225, updated on 28-Oct-2024

    Summary

    Official Symbol
    ABCD2provided by HGNC
    Official Full Name
    ATP binding cassette subfamily D member 2provided by HGNC
    Primary source
    HGNC:HGNC:66
    See related
    Ensembl:ENSG00000173208 MIM:601081; AllianceGenome:HGNC:66
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ALDR; ABC39; ALDL1; ALDRP; hALDR
    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]
    Expression
    Biased expression in fat (RPKM 4.4), brain (RPKM 1.0) and 7 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
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    Genomic context

    See ABCD2 in Genome Data Viewer
    Location:
    12q12
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (39531025..39619803, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (39480907..39601214, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (39943835..40013605, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902919 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:39845559-39846258 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6202 Neighboring gene ribosomal protein L7a pseudogene 74 Neighboring gene uncharacterized LOC124902918 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:39968122-39968922 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6203 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6204 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6205 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:40069543-40069733 Neighboring gene regulator of DNA class I crossover intermediates 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:40092729-40093230 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:40093231-40093730 Neighboring gene solute carrier family 2 member 13 Neighboring gene small nucleolar RNA SNORA22 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:40340515-40341014 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:40371836-40372393 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:40372394-40372950 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4349 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:40422025-40423224 Neighboring gene ribosomal protein L30 pseudogene 13

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ABC-type transporter activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATP binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables ATP hydrolysis activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables ATPase-coupled transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables ATPase-coupled transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables fatty acyl-CoA hydrolase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables long-chain fatty acid transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein heterodimerization activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in fatty acid beta-oxidation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in fatty acid beta-oxidation IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in long-chain fatty acid import into peroxisome IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in myelin maintenance ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of cytokine production involved in inflammatory response ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of reactive oxygen species biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in neuron projection maintenance ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in peroxisome organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of fatty acid beta-oxidation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of unsaturated fatty acid biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in response to bacterium IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in very long-chain fatty acid catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in very long-chain fatty acid catabolic process IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in very long-chain fatty acid catabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in very long-chain fatty acid metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    is_active_in peroxisomal membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in peroxisomal membrane TAS
    Traceable Author Statement
    more info
     
    located_in peroxisome IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    ATP-binding cassette sub-family D member 2
    Names
    ATP-binding cassette, sub-family D (ALD), member 2
    adrenoleukodystrophy-like 1
    adrenoleukodystrophy-related protein

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001412788.1NP_001399717.1  ATP-binding cassette sub-family D member 2 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC121334, AC125491
    2. NM_001412789.1NP_001399718.1  ATP-binding cassette sub-family D member 2 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC121334, AC125491
    3. NM_001412790.1NP_001399719.1  ATP-binding cassette sub-family D member 2 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC121334, AC125491
    4. NM_001412791.1NP_001399720.1  ATP-binding cassette sub-family D member 2 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC121334, AC125491
    5. NM_001412792.1NP_001399721.1  ATP-binding cassette sub-family D member 2 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC121334, AC125491
    6. NM_001412793.1NP_001399722.1  ATP-binding cassette sub-family D member 2 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AC121334
    7. NM_005164.4NP_005155.1  ATP-binding cassette sub-family D member 2 isoform 1

      See identical proteins and their annotated locations for NP_005155.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC121334, AK314254, DB259336
      Consensus CDS
      CCDS8734.1
      UniProtKB/Swiss-Prot
      B2RAM3, Q13210, Q2M3H9, Q9UBJ2
      Related
      ENSP00000310688.3, ENST00000308666.4
      Conserved Domains (3) summary
      cd03223
      Location:478683
      ABCD_peroxisomal_ALDP; ATP-binding cassette domain of peroxisomal transporter, subfamily D
      TIGR00954
      Location:74685
      3a01203; Peroxysomal Fatty Acyl CoA Transporter (FAT) Family protein
      pfam06472
      Location:80365
      ABC_membrane_2; ABC transporter transmembrane region 2

    RNA

    1. NR_182045.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC121334, AC125491
    2. NR_182046.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC121334, AC125491

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      39531025..39619803 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017018992.3XP_016874481.1  ATP-binding cassette sub-family D member 2 isoform X1

    2. XM_017018993.3XP_016874482.1  ATP-binding cassette sub-family D member 2 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      39480907..39601214 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054371410.1XP_054227385.1  ATP-binding cassette sub-family D member 2 isoform X1

    2. XM_054371409.1XP_054227384.1  ATP-binding cassette sub-family D member 2 isoform X3

      UniProtKB/Swiss-Prot
      B2RAM3, Q13210, Q2M3H9, Q9UBJ2
    3. XM_054371411.1XP_054227386.1  ATP-binding cassette sub-family D member 2 isoform X2