ABCD2 (ATP binding cassette subfamily D member 2)

Gene

• Entrez ID: 225
• Gene name: ATP binding cassette subfamily D member 2
• Gene symbol: ABCD2
• Synonyms: ABC39, ALDL1, ALDR, ALDRP, hALDR
• 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, 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]

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT484108	hsa-miR-411-5p	PAR-CLIP	23592263
MIRT484108	hsa-miR-411-5p	PAR-CLIP	20371350
MIRT484109	hsa-miR-3117-3p	PAR-CLIP	23592263
MIRT484109	hsa-miR-3117-3p	PAR-CLIP	20371350
MIRT484110	hsa-miR-3607-3p	PAR-CLIP	23592263
MIRT484110	hsa-miR-3607-3p	PAR-CLIP	20371350
MIRT484111	hsa-miR-1208	PAR-CLIP	23592263
MIRT484111	hsa-miR-1208	PAR-CLIP	20371350
MIRT484112	hsa-miR-8083	PAR-CLIP	23592263
MIRT484112	hsa-miR-8083	PAR-CLIP	20371350
MIRT484113	hsa-miR-3169	PAR-CLIP	23592263
MIRT484113	hsa-miR-3169	PAR-CLIP	20371350
MIRT484114	hsa-miR-4759	PAR-CLIP	23592263
MIRT484114	hsa-miR-4759	PAR-CLIP	20371350
MIRT539537	hsa-miR-4276	PAR-CLIP	22012620
MIRT539538	hsa-miR-1257	PAR-CLIP	22012620
MIRT539539	hsa-miR-15b-3p	PAR-CLIP	22012620
MIRT539540	hsa-miR-5187-3p	PAR-CLIP	22012620
MIRT539541	hsa-miR-5190	PAR-CLIP	22012620
MIRT539542	hsa-miR-4699-3p	PAR-CLIP	22012620
MIRT539543	hsa-miR-5094	PAR-CLIP	22012620
MIRT539544	hsa-miR-4724-5p	PAR-CLIP	22012620
MIRT573075	hsa-miR-4671-3p	PAR-CLIP	20371350
MIRT573076	hsa-miR-454-3p	PAR-CLIP	20371350
MIRT573077	hsa-miR-4295	PAR-CLIP	20371350
MIRT573078	hsa-miR-3666	PAR-CLIP	20371350
MIRT573079	hsa-miR-301a-3p	PAR-CLIP	20371350
MIRT573080	hsa-miR-301b-3p	PAR-CLIP	20371350
MIRT573081	hsa-miR-130b-3p	PAR-CLIP	20371350
MIRT573082	hsa-miR-130a-3p	PAR-CLIP	20371350
MIRT711011	hsa-miR-4267	HITS-CLIP	19536157
MIRT711012	hsa-miR-5586-5p	HITS-CLIP	19536157
MIRT711013	hsa-miR-605-5p	HITS-CLIP	19536157
MIRT711014	hsa-miR-576-5p	HITS-CLIP	19536157
MIRT711015	hsa-miR-4263	HITS-CLIP	19536157
MIRT711016	hsa-miR-3074-5p	HITS-CLIP	19536157
MIRT711017	hsa-miR-627-3p	HITS-CLIP	19536157
MIRT711018	hsa-miR-6747-3p	HITS-CLIP	19536157
MIRT711019	hsa-miR-6727-3p	HITS-CLIP	19536157
MIRT711020	hsa-miR-4722-3p	HITS-CLIP	19536157
MIRT711021	hsa-miR-5003-3p	HITS-CLIP	19536157

Gene ontology (GO)

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
GO:0005778	Component	Peroxisomal membrane	IBA	21873635
GO:0005778	Component	Peroxisomal membrane	TAS
GO:0005829	Component	Cytosol	TAS
GO:0006635	Process	Fatty acid beta-oxidation	IBA	21873635
GO:0006635	Process	Fatty acid beta-oxidation	IGI	21145416
GO:0007031	Process	Peroxisome organization	IBA	21873635
GO:0015910	Process	Long-chain fatty acid import into peroxisome	IBA	21873635
GO:0016021	Component	Integral component of membrane	IEA
GO:0016887	Function	ATPase activity	IBA	21873635
GO:0032000	Process	Positive regulation of fatty acid beta-oxidation	IDA	10196381
GO:0042626	Function	ATPase-coupled transmembrane transporter activity	IBA	21873635
GO:0042760	Process	Very long-chain fatty acid catabolic process	IBA	21873635
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:0043217	Process	Myelin maintenance	ISS
GO:0055085	Process	Transmembrane transport	TAS
GO:1900016	Process	Negative regulation of cytokine production involved in inflammatory response	ISS
GO:1903427	Process	Negative regulation of reactive oxygen species biosynthetic process	ISS
GO:1990535	Process	Neuron projection maintenance	ISS
GO:2001280	Process	Positive regulation of unsaturated fatty acid biosynthetic process	ISS

Other IDs

• MIM: 601081
• HGNC: 66
• e!Ensembl: ENSG00000173208

Protein

• UniProt ID: Q9UBJ2
• Protein name: ATP-binding cassette sub-family D member 2 (Adrenoleukodystrophy-like 1) (Adrenoleukodystrophy-related protein) (hALDR)
• Protein function: Probable transporter.
• 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

• Sequence:

  MTHMLNAAADRVKWTRSSAAKRAACLVAAAYALKTLYPIIGKRLKQSGHGKKKAAAYPAA
  ENTEILHCTETICEKPSPGVNADFFKQLLELRKILFPKLVTTETGWLCLHSVALISRTFL
  SIYVAGLDGKIVKSIVEKKPRTFIIKLIKWLMIAIPATFVNSAIRYLECKLALAFRTRLV
  DHAYETYFTNQTYYKVINMDGRLANPDQSLTEDIMMFSQSVAHLYSNLTKPILDVMLTSY
  TLIQTATSRGASPIGPTLLAGLVVYATAKVLKACSPKFGKLVAEEAHRKGYLRYVHSRII
  ANVEEIAFYRGHKVEMKQLQKSYKALADQMNLILSKRLWYIMIEQFLMKYVWSSSGLIMV
  AIPIITATGFADGEDGQKQVMVSERTEAFTTARNLLASGADAIERIMSSYKEVTELAGYT
  ARVYNMFWVFDEVKRGIYKRTAVIQESESHSKNGAKVELPLSDTLAIKGKVIDVDHGIIC
  ENVPIITPAGEVVASRLNFKVEEGMHLLITGPNGCGKSSLFRILSGLWPVYEGVLYKPPP
  QHMFYIPQRPYMSLGSLRDQVIYPDSVDDMHDKGYTDQDLERILHNVHLYHIVQREGGWD
  AVMDWKDVLSGGEKQRMGMARMFYHKPKYALLDECTSAVSIDVEGKIFQAAKGAGISLLS
  ITHRPSLWKYHTHLLQFDGEGGWRFEQLDTAIRLTLSEEKQKLESQLAGIPKMQQRLNEL
  CKILGEDSVLKTIKNEDETS

• Sequence length: 740