Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs Other IDs Associated diseases
Entrez ID	225
Gene name	ATP binding cassette subfamily D member 2
Gene symbol	ABCD2
Synonyms (NCBI Gene)	ABC39ALDL1ALDRALDRPhALDR
Chromosome	12
Chromosome location	12q12
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, M

137

Show/Hide all (137)

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
MIRT711016	hsa-miR-3074-5p	HITS-CLIP	19536157
MIRT711015	hsa-miR-4263	HITS-CLIP	19536157
MIRT711014	hsa-miR-576-5p	HITS-CLIP	19536157
MIRT711013	hsa-miR-605-5p	HITS-CLIP	19536157
MIRT711012	hsa-miR-5586-5p	HITS-CLIP	19536157
MIRT711011	hsa-miR-4267	HITS-CLIP	19536157
MIRT484114	hsa-miR-4759	PAR-CLIP	20371350
MIRT484113	hsa-miR-3169	PAR-CLIP	20371350
MIRT484112	hsa-miR-8083	PAR-CLIP	20371350
MIRT573082	hsa-miR-130a-3p	PAR-CLIP	20371350
MIRT573081	hsa-miR-130b-3p	PAR-CLIP	20371350
MIRT573079	hsa-miR-301a-3p	PAR-CLIP	20371350
MIRT573080	hsa-miR-301b-3p	PAR-CLIP	20371350
MIRT573078	hsa-miR-3666	PAR-CLIP	20371350
MIRT573077	hsa-miR-4295	PAR-CLIP	20371350
MIRT573076	hsa-miR-454-3p	PAR-CLIP	20371350
MIRT484111	hsa-miR-1208	PAR-CLIP	20371350
MIRT484110	hsa-miR-3607-3p	PAR-CLIP	20371350
MIRT484109	hsa-miR-3117-3p	PAR-CLIP	20371350
MIRT484108	hsa-miR-411-5p	PAR-CLIP	20371350
MIRT573075	hsa-miR-4671-3p	PAR-CLIP	20371350
MIRT539544	hsa-miR-4724-5p	PAR-CLIP	22012620
MIRT539543	hsa-miR-5094	PAR-CLIP	22012620
MIRT539542	hsa-miR-4699-3p	PAR-CLIP	22012620
MIRT539541	hsa-miR-5190	PAR-CLIP	22012620
MIRT539540	hsa-miR-5187-3p	PAR-CLIP	22012620
MIRT539539	hsa-miR-15b-3p	PAR-CLIP	22012620
MIRT539538	hsa-miR-1257	PAR-CLIP	22012620
MIRT539537	hsa-miR-4276	PAR-CLIP	22012620
MIRT484114	hsa-miR-4759	PAR-CLIP	23592263
MIRT484113	hsa-miR-3169	PAR-CLIP	23592263
MIRT484112	hsa-miR-8083	PAR-CLIP	23592263
MIRT484111	hsa-miR-1208	PAR-CLIP	23592263
MIRT484110	hsa-miR-3607-3p	PAR-CLIP	23592263
MIRT484109	hsa-miR-3117-3p	PAR-CLIP	23592263
MIRT484108	hsa-miR-411-5p	PAR-CLIP	23592263
MIRT484114	hsa-miR-4759	PAR-CLIP	23592263
MIRT484113	hsa-miR-3169	PAR-CLIP	23592263
MIRT484112	hsa-miR-8083	PAR-CLIP	23592263
MIRT484111	hsa-miR-1208	PAR-CLIP	23592263
MIRT484110	hsa-miR-3607-3p	PAR-CLIP	23592263
MIRT484109	hsa-miR-3117-3p	PAR-CLIP	23592263
MIRT484108	hsa-miR-411-5p	PAR-CLIP	23592263
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
MIRT711016	hsa-miR-3074-5p	HITS-CLIP	19536157
MIRT711015	hsa-miR-4263	HITS-CLIP	19536157
MIRT711014	hsa-miR-576-5p	HITS-CLIP	19536157
MIRT711013	hsa-miR-605-5p	HITS-CLIP	19536157
MIRT711012	hsa-miR-5586-5p	HITS-CLIP	19536157
MIRT711011	hsa-miR-4267	HITS-CLIP	19536157
MIRT484114	hsa-miR-4759	PAR-CLIP	20371350
MIRT484113	hsa-miR-3169	PAR-CLIP	20371350
MIRT484112	hsa-miR-8083	PAR-CLIP	20371350
MIRT573082	hsa-miR-130a-3p	PAR-CLIP	20371350
MIRT573081	hsa-miR-130b-3p	PAR-CLIP	20371350
MIRT573079	hsa-miR-301a-3p	PAR-CLIP	20371350
MIRT573080	hsa-miR-301b-3p	PAR-CLIP	20371350
MIRT573078	hsa-miR-3666	PAR-CLIP	20371350
MIRT573077	hsa-miR-4295	PAR-CLIP	20371350
MIRT573076	hsa-miR-454-3p	PAR-CLIP	20371350
MIRT484111	hsa-miR-1208	PAR-CLIP	20371350
MIRT484110	hsa-miR-3607-3p	PAR-CLIP	20371350
MIRT484109	hsa-miR-3117-3p	PAR-CLIP	20371350
MIRT484108	hsa-miR-411-5p	PAR-CLIP	20371350
MIRT573075	hsa-miR-4671-3p	PAR-CLIP	20371350
MIRT539544	hsa-miR-4724-5p	PAR-CLIP	22012620
MIRT539543	hsa-miR-5094	PAR-CLIP	22012620
MIRT539542	hsa-miR-4699-3p	PAR-CLIP	22012620
MIRT539541	hsa-miR-5190	PAR-CLIP	22012620
MIRT539540	hsa-miR-5187-3p	PAR-CLIP	22012620
MIRT539539	hsa-miR-15b-3p	PAR-CLIP	22012620
MIRT539538	hsa-miR-1257	PAR-CLIP	22012620
MIRT539537	hsa-miR-4276	PAR-CLIP	22012620
MIRT484114	hsa-miR-4759	PAR-CLIP	23592263
MIRT484113	hsa-miR-3169	PAR-CLIP	23592263
MIRT484112	hsa-miR-8083	PAR-CLIP	23592263
MIRT484111	hsa-miR-1208	PAR-CLIP	23592263
MIRT484110	hsa-miR-3607-3p	PAR-CLIP	23592263
MIRT484109	hsa-miR-3117-3p	PAR-CLIP	23592263
MIRT484108	hsa-miR-411-5p	PAR-CLIP	23592263
MIRT484114	hsa-miR-4759	PAR-CLIP	23592263
MIRT484113	hsa-miR-3169	PAR-CLIP	23592263
MIRT484112	hsa-miR-8083	PAR-CLIP	23592263
MIRT484111	hsa-miR-1208	PAR-CLIP	23592263
MIRT484110	hsa-miR-3607-3p	PAR-CLIP	23592263
MIRT484109	hsa-miR-3117-3p	PAR-CLIP	23592263
MIRT484108	hsa-miR-411-5p	PAR-CLIP	23592263
MIRT758764	hsa-miR-1185	CLIP-seq
MIRT758765	hsa-miR-1290	CLIP-seq
MIRT758766	hsa-miR-155	CLIP-seq
MIRT758767	hsa-miR-3163	CLIP-seq
MIRT758768	hsa-miR-340	CLIP-seq
MIRT758769	hsa-miR-3605-5p	CLIP-seq
MIRT758770	hsa-miR-361-5p	CLIP-seq
MIRT758771	hsa-miR-3658	CLIP-seq
MIRT758772	hsa-miR-3679-5p	CLIP-seq
MIRT758773	hsa-miR-4282	CLIP-seq
MIRT758774	hsa-miR-4330	CLIP-seq
MIRT758775	hsa-miR-4659a-3p	CLIP-seq
MIRT758776	hsa-miR-4659b-3p	CLIP-seq
MIRT758777	hsa-miR-4668-3p	CLIP-seq
MIRT758778	hsa-miR-4778-3p	CLIP-seq
MIRT758779	hsa-miR-556-3p	CLIP-seq
MIRT758780	hsa-miR-578	CLIP-seq
MIRT758781	hsa-miR-579	CLIP-seq
MIRT758782	hsa-miR-643	CLIP-seq
MIRT758770	hsa-miR-361-5p	CLIP-seq
MIRT758773	hsa-miR-4282	CLIP-seq
MIRT758775	hsa-miR-4659a-3p	CLIP-seq
MIRT758776	hsa-miR-4659b-3p	CLIP-seq
MIRT758770	hsa-miR-361-5p	CLIP-seq
MIRT758773	hsa-miR-4282	CLIP-seq
MIRT2165252	hsa-miR-548aa	CLIP-seq
MIRT2165253	hsa-miR-555	CLIP-seq
MIRT2165254	hsa-miR-944	CLIP-seq
MIRT758765	hsa-miR-1290	CLIP-seq
MIRT758770	hsa-miR-361-5p	CLIP-seq
MIRT758773	hsa-miR-4282	CLIP-seq
MIRT758775	hsa-miR-4659a-3p	CLIP-seq
MIRT758776	hsa-miR-4659b-3p	CLIP-seq
MIRT758778	hsa-miR-4778-3p	CLIP-seq
MIRT2165253	hsa-miR-555	CLIP-seq
MIRT758780	hsa-miR-578	CLIP-seq
MIRT758781	hsa-miR-579	CLIP-seq
MIRT758782	hsa-miR-643	CLIP-seq
MIRT758775	hsa-miR-4659a-3p	CLIP-seq
MIRT758776	hsa-miR-4659b-3p	CLIP-seq
MIRT2467142	hsa-miR-586	CLIP-seq

Show/Hide all (65)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000038	Process	Very long-chain fatty acid metabolic process	IDA	10196381, 29397936
GO:0000038	Process	Very long-chain fatty acid metabolic process	IEA
GO:0000166	Function	Nucleotide binding	IEA
GO:0005324	Function	Long-chain fatty acid transmembrane transporter activity	IBA
GO:0005324	Function	Long-chain fatty acid transmembrane transporter activity	IEA
GO:0005515	Function	Protein binding	IPI	10704444, 10777694, 11883941, 17609205
GO:0005524	Function	ATP binding	IBA
GO:0005524	Function	ATP binding	IEA
GO:0005777	Component	Peroxisome	IDA	10196381, 10329405, 21145416
GO:0005777	Component	Peroxisome	IEA
GO:0005778	Component	Peroxisomal membrane	IBA
GO:0005778	Component	Peroxisomal membrane	IEA
GO:0005778	Component	Peroxisomal membrane	IEA
GO:0005778	Component	Peroxisomal membrane	TAS
GO:0005829	Component	Cytosol	TAS
GO:0006633	Process	Fatty acid biosynthetic process	IEA
GO:0006635	Process	Fatty acid beta-oxidation	IBA
GO:0006635	Process	Fatty acid beta-oxidation	IEA
GO:0006635	Process	Fatty acid beta-oxidation	IGI	21145416
GO:0006636	Process	Unsaturated fatty acid biosynthetic process	IEA
GO:0007031	Process	Peroxisome organization	IBA
GO:0009617	Process	Response to bacterium	IEA
GO:0015605	Function	Organophosphate ester transmembrane transporter activity	IEA
GO:0015748	Process	Organophosphate ester transport	IEA
GO:0015910	Process	Long-chain fatty acid import into peroxisome	IBA
GO:0015931	Process	Nucleobase-containing compound transport	IEA
GO:0015932	Function	Nucleobase-containing compound transmembrane transporter activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IDA	29397936
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0019217	Process	Regulation of fatty acid metabolic process	IEA
GO:0032000	Process	Positive regulation of fatty acid beta-oxidation	IDA	10196381
GO:0032000	Process	Positive regulation of fatty acid beta-oxidation	IEA
GO:0036109	Process	Alpha-linolenic acid metabolic process	IEA
GO:0042626	Function	ATPase-coupled transmembrane transporter activity	IBA
GO:0042626	Function	ATPase-coupled transmembrane transporter activity	IDA	16946495, 29397936
GO:0042759	Process	Long-chain fatty acid biosynthetic process	IEA
GO:0042760	Process	Very long-chain fatty acid catabolic process	IBA
GO:0042760	Process	Very long-chain fatty acid catabolic process	IEA
GO:0042760	Process	Very long-chain fatty acid catabolic process	IGI	21145416
GO:0042760	Process	Very long-chain fatty acid catabolic process	ISS
GO:0042803	Function	Protein homodimerization activity	IDA	21145416
GO:0042803	Function	Protein homodimerization activity	IEA
GO:0042886	Process	Amide transport	IEA
GO:0042887	Function	Amide transmembrane transporter activity	IEA
GO:0043217	Process	Myelin maintenance	IEA
GO:0043217	Process	Myelin maintenance	ISS
GO:0043651	Process	Linoleic acid metabolic process	IEA
GO:0046982	Function	Protein heterodimerization activity	IEA
GO:0046982	Function	Protein heterodimerization activity	ISS
GO:0047617	Function	Fatty acyl-CoA hydrolase activity	IDA	29397936
GO:0047617	Function	Fatty acyl-CoA hydrolase activity	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0140359	Function	ABC-type transporter activity	IEA
GO:1900016	Process	Negative regulation of cytokine production involved in inflammatory response	IEA
GO:1900016	Process	Negative regulation of cytokine production involved in inflammatory response	ISS
GO:1901570	Process	Fatty acid derivative biosynthetic process	IEA
GO:1901682	Function	Sulfur compound transmembrane transporter activity	IEA
GO:1903427	Process	Negative regulation of reactive oxygen species biosynthetic process	IEA
GO:1903427	Process	Negative regulation of reactive oxygen species biosynthetic process	ISS
GO:1990535	Process	Neuron projection maintenance	IEA
GO:1990535	Process	Neuron projection maintenance	ISS
GO:2001280	Process	Positive regulation of unsaturated fatty acid biosynthetic process	IEA
GO:2001280	Process	Positive regulation of unsaturated fatty acid biosynthetic process	ISS

MIM	HGNC	e!Ensembl
601081	66	ENSG00000173208

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
AIPIITATGFADGEDGQKQVMVSERTEAFTTARNLLASGADAIERIMSSYKEVTELAGYT
ARVYNMFWVFDEVKRGIYKRTAVIQESESHSKNGAKVELPLSDTLAIKGKVIDVDHGIIC
ENVPIITPAGEVVASRLNFKVEEGMHLLITGPNGCGKSSLFRILSGLWPVYEGVLYKPPP
QHMFYIPQRPYMSLGSLRDQVIYPDSVDDMHDKGYTDQDLERILHNVHLYHIVQREGGWD
AVMDWKDVLSGGEKQRMGMARMFYHKPKYALLDECTSAVSIDVEGKIFQAAKGAGISLLS
ITHRPSLWKYHTHLLQFDGEGGWRFEQLDTAIRLTLSEEKQKLESQLAGIPKMQQRLNEL
CKILGEDSVLKTIKNEDETS

Sequence length

740

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (31)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acne	Acne	BEFREE	25079382		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acne Vulgaris	Acne	BEFREE	25079382		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy	Adrenoleukodystrophy	BEFREE	10196381, 10329405, 11087670, 11422379, 11592822, 12374760, 12761339, 15489218, 15800013, 15809314, 17092750, 18723473, 18834860, 19406244, 20179078 View all (13 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy	Adrenoleukodystrophy	LHGDN	17602313, 18834860		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy	Adrenoleukodystrophy	Pubtator	20661612, 23437103, 24363066, 25079382, 32359032	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenomyeloneuropathy	Adrenomyeloneuropathy	BEFREE	15800013		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	23556449, 26681085		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	26681085	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	23437103	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	30540723		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	35261213	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	28647418, 30514189, 31582273		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CTD_human_DG	22294766		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	CTD_human_DG	22294766		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Degenerative polyarthritis	Arthritis	BEFREE	30264402		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	31474927		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	31474927		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia, Familial	Hypercholesterolemia	BEFREE	29053901		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ischemic Attack Transient	Transient ischemic attack	Pubtator	35261213	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	29053901		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	23437103		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	26681085		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	11087670, 24480443		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	24739237	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	26459268	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pseudoxanthoma Elasticum	Pseudoxanthoma elasticum	Pubtator	18936737	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Speech Disorders	Speech Disorders	BEFREE	27750222		★★★★★ ★☆☆☆☆ Found in Text Mining only
Transient Cerebral Ischemia	Cerebral Ischemia	BEFREE	27904159, 28647418, 30514189		★★★★★ ★☆☆☆☆ Found in Text Mining only
Transient Ischemic Attack	Transient Ischemic Attack	BEFREE	27904159, 28647418, 29053901, 29482544, 29920644, 30514189, 30540723		★★★★★ ★☆☆☆☆ Found in Text Mining only
Zellweger Syndrome	Zellweger Syndrome	BEFREE	8577752		★★★★★ ★☆☆☆☆ Found in Text Mining only

ABCD2 (ATP binding cassette subfamily D member 2)