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GENE AND PROTEIN SUMMARY

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Gene name

ABCD2

Description

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

Protein class

Mapped to UniProt SWISS-PROT, Potential transmembrane proteins, Potentially secreted proteins, Transporters

Protein evidence

High

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]

External links

Ensembl, UniProt, Entrez gene, neXtProt, Antibodypedia

No of splice variants

1 in total
1 with predicted TM region
0 with predicted signal peptide

SUBCELLULAR LOCATION SUMMARY

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Main location(s)

Vesicles

Additional location(s)

 

Staining summary

Staining of vesicles in all three cell lines.

Reliability (Single)

Antibodies in assay

HPA040336
 

NORMAL TISSUE & ORGAN SUMMARY

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Staining summary

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

Tissue specificity

Staining in 75 out of 78 cell types

Reliability (Single)

Antibodies in assay

HPA040336
 

Organ

No of cell types

Antibody staining

CNS (brain) 11
Hematopoietic (blood) 8
Liver and pancreas 5
Digestive (GI-tract) 12
Respiratory (lung) 4
Cardiovascular 1
Female tissues 12
Placenta 1
Male tissues 5
Urinary tract (kidney) 3
Skin and soft tissues 13
Endocrine tissues 3

Level of antibody staining





Strong
Moderate
Weak
Negative

CANCER TISSUE SUMMARY

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Staining summary

Antibody staining in 77% of the cancers

Antibodies in assay

HPA040336
 

Tissue

Cancer staining

Normal tissue
staining

Breast cancer
 
Carcinoid
 
Cervical cancer
 
 
Colorectal cancer
 
 
Endometrial cancer
 
 
Glioma
 
Head and neck cancer
 
 
Liver cancer
 
 
Lung cancer
 
 
Lymphoma
 
 
 

Tissue

Cancer staining

Normal tissue
staining

Melanoma
 
Ovarian cancer
 
Pancreatic cancer
 
Prostate cancer
 
Renal cancer
 
Skin cancer
 
Stomach cancer
 
 
Testis cancer
 
Thyroid cancer
 
Urothelial cancer
 

Level of antibody staining





Strong
Moderate
Weak
Negative

CELL LINE SUMMARY

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RNA evidence

Low
 

Cell line

Cell origin

RNA abundance

IH staining

IF intensity

 

HPA040336

A-431 Skin Not detected

-

Moderate
A-549 Lung Not detected

-

CACO-2 Colon Not detected

-

HEK 293 Embryonal kidney Not detected

-

HeLa Cervix Not detected

-

Hep-G2 Liver Not detected

-

MCF-7 Pleural effusion Not detected

-

PC-3 Bone marrow Low

-

RT-4 Urinary bladder Low

-

U-2 OS Bone Low

-

Strong
U-251 MG Brain Low

-

Moderate

ANTIBODY SUMMARY

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Antibody

Clonality

Validation

HPA040336 pAb