Seroatlas · Human Serome Atlas

ABCD2

ATP-binding cassette sub-family D member 2

Also known as: ABCD2_HUMAN, ALDL1, ALDR, ALDRP

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q9UBJ2
Gene
ABCD2
Ensembl
ENSG00000173208
Chromosome
12
Canonical length
740 aa
Protein class
Metabolic proteins, Predicted membrane proteins, Transporters
Quaternary structure
Homotetramer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

740 residues, UniProt reviewed canonical sequence.

>Q9UBJ2|ABCD2
     1  MTHMLNAAAD RVKWTRSSAA KRAACLVAAA YALKTLYPII GKRLKQSGHG KKKAAAYPAA
    61  ENTEILHCTE TICEKPSPGV NADFFKQLLE LRKILFPKLV TTETGWLCLH SVALISRTFL
   121  SIYVAGLDGK IVKSIVEKKP RTFIIKLIKW LMIAIPATFV NSAIRYLECK LALAFRTRLV
   181  DHAYETYFTN QTYYKVINMD GRLANPDQSL TEDIMMFSQS VAHLYSNLTK PILDVMLTSY
   241  TLIQTATSRG ASPIGPTLLA GLVVYATAKV LKACSPKFGK LVAEEAHRKG YLRYVHSRII
   301  ANVEEIAFYR GHKVEMKQLQ KSYKALADQM NLILSKRLWY IMIEQFLMKY VWSSSGLIMV
   361  AIPIITATGF ADGEDGQKQV MVSERTEAFT TARNLLASGA DAIERIMSSY KEVTELAGYT
   421  ARVYNMFWVF DEVKRGIYKR TAVIQESESH SKNGAKVELP LSDTLAIKGK VIDVDHGIIC
   481  ENVPIITPAG EVVASRLNFK VEEGMHLLIT GPNGCGKSSL FRILSGLWPV YEGVLYKPPP
   541  QHMFYIPQRP YMSLGSLRDQ VIYPDSVDDM HDKGYTDQDL ERILHNVHLY HIVQREGGWD
   601  AVMDWKDVLS GGEKQRMGMA RMFYHKPKYA LLDECTSAVS IDVEGKIFQA AKGAGISLLS
   661  ITHRPSLWKY HTHLLQFDGE GGWRFEQLDT AIRLTLSEEK QKLESQLAGI PKMQQRLNEL
   721  CKILGEDSVL KTIKNEDETS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ABCD2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Other membrane
Secreted
No
Transmembrane segments
4
Mean surface accessibility (rSASA)
0.34
Highest tissue expression
15 nTPM

Expression across tissuesHPA

Tissue

  • adipose tissue: 15 nTPM
  • retina: 5.5 nTPM
  • cervix: 5 nTPM
  • cerebellum: 4.9 nTPM
  • cerebral cortex: 4.2 nTPM
  • heart muscle: 4 nTPM

Single-cell type

  • adipocytes: 376 nCPM
  • retinal bipolar cells: 215 nCPM
  • astrocytes: 115 nCPM
  • retinal ganglion cells: 89 nCPM
  • bergmann glia: 81 nCPM
  • brain excitatory neurons: 55 nCPM

Immune cell

  • naive CD8 T-cell: 4.2 nTPM
  • memory CD8 T-cell: 3.7 nTPM
  • T-reg: 3.6 nTPM
  • naive CD4 T-cell: 3.2 nTPM
  • memory CD4 T-cell: 2.8 nTPM
  • gdT-cell: 1.5 nTPM

Brain region

  • cerebellum: 23 nTPM
  • cerebral cortex: 15 nTPM
  • thalamus: 12 nTPM
  • midbrain: 11 nTPM
  • pons: 8.9 nTPM
  • basal ganglia: 8.7 nTPM

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.72
gnomAD pLI
0
gnomAD missense Z
2.35
DepMap mean gene effect
-0.03
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of ABCD2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads ABCD2 as an antibody target. Whether an autoantibody or antibody against ABCD2 could matter depends on whether native ABCD2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ABCD2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label ABCD2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/ABCD2. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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