Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
225
Gene name Gene Name - the full gene name approved by the HGNC.
ATP binding cassette subfamily D member 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ABCD2
Synonyms (NCBI Gene) Gene synonyms aliases
ABC39, ALDL1, ALDR, ALDRP, hALDR
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q12
Summary Summary of gene provided in NCBI Entrez 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, M
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT711021 hsa-miR-5003-3p HITS-CLIP 19536157
MIRT711020 hsa-miR-4722-3p HITS-CLIP 19536157
MIRT711019 hsa-miR-6727-3p HITS-CLIP 19536157
MIRT711018 hsa-miR-6747-3p HITS-CLIP 19536157
MIRT711017 hsa-miR-627-3p HITS-CLIP 19536157
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000038 Process Very long-chain fatty acid metabolic process IDA 10196381
GO:0005324 Function Long-chain fatty acid transporter activity IBA 21873635
GO:0005515 Function Protein binding IPI 10704444, 10777694, 11883941
GO:0005524 Function ATP binding IBA 21873635
GO:0005777 Component Peroxisome IDA 10196381, 10329405, 21145416
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
601081 66 ENSG00000173208
Protein
UniProt ID Q9UBJ2
Protein name ATP-binding cassette sub-family D member 2 (EC 3.1.2.-) (EC 7.6.2.-) (Adrenoleukodystrophy-like 1) (Adrenoleukodystrophy-related protein) (hALDR)
Protein function ATP-dependent transporter of the ATP-binding cassette (ABC) family involved in the transport of very long chain fatty acid (VLCFA)-CoA from the cytosol to the peroxisome lumen (PubMed:21145416, PubMed:29397936). Like ABCD1 seems to have fatty ac
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF06472 ABC_membrane_2 91 365 ABC transporter transmembrane region 2 Family
PF00005 ABC_tran 494 637 ABC transporter Domain
Tissue specificity TISSUE SPECIFICITY: Predominantly expressed in brain and heart. {ECO:0000269|PubMed:9345306}.
Sequence
MTHMLNAAADRVKWTRSSAAKRAACLVAAAYALKTLYPIIGKRLKQSGHGKKKAAAYPAA
ENTEILHCTETICEKPSPGVNADFFKQLLELRKILFPKLVTTETGWLCLHSVALISRTFL
SIYVAGLDGKIVKSIVEKKPRTFIIKLIKWLMIAIPATFVNSAIRYLECKLALAFRTRLV
DHAYETYFTNQTYYKVINMDGRLANPDQSLTEDIMMFSQSVAHLYSNLTKPILDVMLTSY
TLIQTATSRGASPIGPTLLAGLVVYATAKVLKACSPKFGKLVAEEAHRKGYLRYVHSRII
ANVEEIAFYRGHKVEMKQLQKSYKALADQMNLILSKRLWYIMIEQFLMKYVWSSSGLIMV
AIPII
TATGFADGEDGQKQVMVSERTEAFTTARNLLASGADAIERIMSSYKEVTELAGYT
ARVYNMFWVFDEVKRGIYKRTAVIQESESHSKNGAKVELPLSDTLAIKGKVIDVDHGIIC
ENVPIITPAGEVVASRLNFKVEEGMHLLITGPNGCGKSSLFRILSGLWPVYEGVLYKPPP
QHMFYIPQRPYMSLGSLRDQVIYPDSVDDMHDKGYTDQDLERILHNVHLYHIVQREGGWD
AVMDWKDVLSGGEKQRMGMARMFYHKPKYALLDECTS
AVSIDVEGKIFQAAKGAGISLLS
ITHRPSLWKYHTHLLQFDGEGGWRFEQLDTAIRLTLSEEKQKLESQLAGIPKMQQRLNEL
CKILGEDSVLKTIKNEDETS
Sequence length 740
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  ABC transporters
Peroxisome
  ABC transporters in lipid homeostasis
Class I peroxisomal membrane protein import
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Colorectal cancer Colorectal Carcinoma rs137854568, rs137854573, rs137854575, rs387906234, rs121908380, rs121908702, rs267606674, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800
View all (467 more)
22294766
Colorectal neoplasms Colorectal Neoplasms rs28929483, rs63751108, rs28929484, rs63749831, rs63750047, rs63751207, rs63749811, rs1553350126, rs63750875, rs63750955, rs587776706, rs63750871, rs587776715, rs63751466, rs63750049
View all (1682 more)
22294766
Unknown
Disease term Disease name Evidence References Source
Pancreatic adenocarcinoma Pancreatic Ductal Adenocarcinoma PDAC patients with high expression of PSMA6 having a significantly shorter overall survival rate. ClinVar, CBGDA
Associations from Text Mining
Disease Name Relationship Type References
Adrenoleukodystrophy Associate 20661612, 23437103, 24363066, 25079382, 32359032
Breast Neoplasms Associate 26681085
Carcinoma Hepatocellular Associate 23437103
Cerebral Infarction Associate 35261213
Demyelinating Autoimmune Diseases CNS Associate 25079382
Infections Inhibit 36085307
Inflammation Associate 25079382, 32359032
Ischemic Attack Transient Associate 35261213
Ovarian Neoplasms Associate 24739237
Prostatic Neoplasms Associate 26459268