• Gene id: 225

Gene Summary

• Gene Symbol: ABCD2   Gene   UCSC   Ensembl
• Aliases: ABC39, ALDL1, ALDR, ALDRP, hALDR
• Gene name: ATP binding cassette subfamily D member 2
• Alternate names: ATP-binding cassette sub-family D member 2, ATP-binding cassette, sub-family D (ALD), member 2, adrenoleukodystrophy-like 1, adrenoleukodystrophy-related protein,
• Gene location: 12q12 (39651332: 39530964)     Exons: 13     NC_000012.12
• Gene summary(Entrez): 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
• OMIM: 601081

SNPs

rs587777432

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000017.11   g.4744210_4744213AACA[1]
NC_000017.10   g.4647505_4647508AACA[1]
NG_034160.1   g.9196_9199AACA[1]
NM_001136046.3   c.1516_1519AACA[1]
NM_001136046.2   c.1516_1519AACA[1]
NM_032265.2   c.1399_1402AACA[1]
NM_001267822.1   c.1516_1519AACA[1]
XM_0170252  

rs2274911

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.116809541G>A
NC_000006.12   g.116809541G>C
NC_000006.11   g.117130704G>A
NC_000006.11   g.117130704G>C
NM_148963.3   c.271C>T
NM_148963.3   c.271C>G
NM_148963.4   c.271C>T
NM_148963.4   c.271C>G
NM_148963.2   c.271C>T
NM_148963.2   c.271C>G
XM_017010475  

Protein Summary

• Protein general information: Q9UBJ2  
  • Name: ATP binding cassette sub family D member 2 (Adrenoleukodystrophy like 1) (Adrenoleukodystrophy related protein) (hALDR)
  • Length: 740  
  • Mass: 83233
  • Tissue specificity: Predominantly expressed in brain and heart.
• Sequence:

  MTHMLNAAADRVKWTRSSAAKRAACLVAAAYALKTLYPIIGKRLKQSGHGKKKAAAYPAAENTEILHCTETICEK
  PSPGVNADFFKQLLELRKILFPKLVTTETGWLCLHSVALISRTFLSIYVAGLDGKIVKSIVEKKPRTFIIKLIKW
  LMIAIPATFVNSAIRYLECKLALAFRTRLVDHAYETYFTNQTYYKVINMDGRLANPDQSLTEDIMMFSQSVAHLY
  SNLTKPILDVMLTSYTLIQTATSRGASPIGPTLLAGLVVYATAKVLKACSPKFGKLVAEEAHRKGYLRYVHSRII
  ANVEEIAFYRGHKVEMKQLQKSYKALADQMNLILSKRLWYIMIEQFLMKYVWSSSGLIMVAIPIITATGFADGED
  GQKQVMVSERTEAFTTARNLLASGADAIERIMSSYKEVTELAGYTARVYNMFWVFDEVKRGIYKRTAVIQESESH
  SKNGAKVELPLSDTLAIKGKVIDVDHGIICENVPIITPAGEVVASRLNFKVEEGMHLLITGPNGCGKSSLFRILS
  GLWPVYEGVLYKPPPQHMFYIPQRPYMSLGSLRDQVIYPDSVDDMHDKGYTDQDLERILHNVHLYHIVQREGGWD
  AVMDWKDVLSGGEKQRMGMARMFYHKPKYALLDECTSAVSIDVEGKIFQAAKGAGISLLSITHRPSLWKYHTHLL
  QFDGEGGWRFEQLDTAIRLTLSEEKQKLESQLAGIPKMQQRLNELCKILGEDSVLKTIKNEDETS

• Structural information:
  • Protein Domains: (107..39-)
    type-1 (/note="ABC-transmembrane)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00441-)
    (478..70-)
    (/note="ABC-transporter)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00434"-)
  • Interpro: IPR003593  IPR011527  IPR036640  IPR003439  IPR017871   IPR031239  IPR027417  
  • Prosite: PS50929 PS00211 PS50893
  • STRING: ENSP00000310688
• Other Databases: GeneCards:  ABCD2  Malacards:  ABCD2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:2001280	positive regulation of unsaturated fatty acid biosynthetic process	ISS	biological process
GO:1990535	neuron projection maintenance	ISS	biological process
GO:1903427	negative regulation of reactive oxygen species biosynthetic process	ISS	biological process
GO:0042760	very long-chain fatty acid catabolic process	ISS	biological process
GO:0043217	myelin maintenance	ISS	biological process
GO:1900016	negative regulation of cytokine production involved in inflammatory response	ISS	biological process
GO:0000038	very long-chain fatty acid metabolic process	IEA	biological process
GO:0006635	fatty acid beta-oxidation	IEA	biological process
GO:0042626	ATPase-coupled transmembrane transporter activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005777	peroxisome	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016887	ATPase activity	IEA	molecular function
GO:0055085	transmembrane transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005777	peroxisome	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005778	peroxisomal membrane	TAS	cellular component
GO:0005778	peroxisomal membrane	TAS	cellular component
GO:0055085	transmembrane transport	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005778	peroxisomal membrane	IEA	cellular component
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0000038	very long-chain fatty acid metabolic process	IDA	biological process
GO:0005777	peroxisome	IDA	cellular component
GO:0005777	peroxisome	IDA	cellular component
GO:0032000	positive regulation of fatty acid beta-oxidation	IDA	biological process
GO:0005777	peroxisome	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0042760	very long-chain fatty acid catabolic process	IGI	biological process
GO:0006635	fatty acid beta-oxidation	IGI	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04146	Peroxisome
hsa02010	ABC transporters

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq