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Term
Gene name

Class

Subclass

Chromosome

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In atlas

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Reliability

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Method

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Method

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ABCD2
  • TISSUE

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TISSUE ATLAS

GENE/PROTEIN

Dictionary


Tissue proteome

GENERAL INFORMATION

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
SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category

HPA:Tissue enhanced (adipose tissue)
GTEx:Mixed
FANTOM5:Tissue enhanced (cerebellum)

Protein evidence

Evidence at protein level

DATA RELIABILITY

Reliability score

Pending normal tissue annotation.

RNA AND PROTEIN EXPRESSION SUMMARY

RNA expression (TPM) Protein expression (score)
Brain
N/A
Cerebral cortex
N/A
Hippocampus
N/A
N/A
Caudate
N/A
N/A
Cerebellum
N/A
N/A
Endocrine tissues
N/A
Thyroid gland
N/A
Parathyroid gland
N/A
Adrenal gland
N/A
Bone marrow & immune system
N/A
Appendix
N/A
Bone marrow
N/A
Lymph node
N/A
Tonsil
N/A
Spleen
N/A
Muscle tissues
N/A
Heart muscle
N/A
Skeletal muscle
N/A
Smooth muscle
N/A
Lung
N/A
Nasopharynx
N/A
N/A
Bronchus
N/A
N/A
Lung
N/A
Liver & gallbladder
N/A
Liver
N/A
Gallbladder
N/A
Pancreas
N/A
Pancreas
N/A
Gastrointestinal tract
N/A
Oral mucosa
N/A
N/A
Salivary gland
N/A
Esophagus
N/A
Stomach
N/A
Duodenum
N/A
Small intestine
N/A
Colon
N/A
Rectum
N/A
Kidney & urinary bladder
N/A
Kidney
N/A
Urinary bladder
N/A
Male tissues
N/A
Testis
N/A
Epididymis
N/A
Prostate
N/A
Seminal vesicle
N/A
Female tissues
N/A
Breast
N/A
Vagina
N/A
N/A
Cervix, uterine
N/A
Endometrium
N/A
Fallopian tube
N/A
Ovary
N/A
Placenta
N/A
Adipose & soft tissue
N/A
Adipose tissue
N/A
Soft tissue
N/A
N/A
Skin
N/A
Skin
N/A

PROTEIN EXPRESSION OVERVIEW

Pending normal tissue annotation.

RNA EXPRESSION OVERVIEW

HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (adipose tissue)
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Mixed
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (cerebellum)

GENE INFORMATION

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 83.38)

Entrez gene

225

UniProt

Q9UBJ2 (UniProt - Evidence at protein level)

neXtProt

NX_Q9UBJ2

Antibodypedia

ABCD2 antibodies

PROTEIN BROWSER

ABCD2-001

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)

ABCD2-001
ENSP00000310688
ENST00000308666
Q9UBJ2 [Direct mapping]
ATP-binding cassette sub-family D member 2
Show all
Transporters
   Primary Active Transporters
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   # TM segments-based
   4TM proteins predicted by MDM
Protein evidence (Kim et al 2014)
Show all
GO:0000038 [very long-chain fatty acid metabolic process]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005777 [peroxisome]
GO:0005778 [peroxisomal membrane]
GO:0005829 [cytosol]
GO:0006635 [fatty acid beta-oxidation]
GO:0006810 [transport]
GO:0016021 [integral component of membrane]
GO:0016887 [ATPase activity]
GO:0032000 [positive regulation of fatty acid beta-oxidation]
GO:0042626 [ATPase activity, coupled to transmembrane movement of substances]
GO:0042760 [very long-chain fatty acid catabolic process]
GO:0042803 [protein homodimerization activity]
GO:0043231 [intracellular membrane-bounded organelle]
GO:0055085 [transmembrane transport]
Show all
740 aa
83.2 kDa
No 4

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