ABCD2

GENERAL INFORMATION

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Gene name

ABCD2

Gene description

ATP-binding cassette, sub-family D (ALD), member 2

Protein class

Predicted membrane proteins
Transporters

Predicted localization

Membrane

Number of transcripts

1
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Tissue enhanced (adipose tissue)
GTEx:Mixed

Protein evidence

Evidence at protein level

Protein localization

Most normal tissues showed moderate cytoplasmic positivity. Myocytes, urothelium, breast, upper respiratory epithelia, parietal cells in stomach and hematopoietic cells exhibited strong cytoplasmic staining.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 1 antibody.
HPA040336
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Heart muscle

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Tissue enhanced (adipose tissue)

Organ

Expression

GTEx dataset
RNA tissue category:  Mixed

Organ

Expression



GENE INFORMATION

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Gene name

ABCD2 (HGNC Symbol)

Synonyms

ALDL1, ALDR, ALDRP

Description

ATP-binding cassette, sub-family D (ALD), member 2 (HGNC Symbol)

Entrez gene 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]

Chromosome

12

Cytoband

q12

Chromosome location (bp)

39550033 - 39619751

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000173208 (version 78.38)

Entrez gene

225

UniProt

Q9UBJ2 (UniProt - Evidence at protein level)

neXtProt

NX_Q9UBJ2

Antibodypedia

ABCD2 antibodies


PROTEIN BROWSER

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ENST00000308666
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

ABCD2-001 ENSP00000310688
ENST00000308666
Q9UBJ2
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