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GENE AND PROTEIN SUMMARY

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Gene name

GJB2

Description

gap junction protein, beta 2, 26kDa

Protein class

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

Protein evidence

Medium

Entrez gene summary

This gene encodes a member of the gap junction protein family. The gap junctions were first characterized by electron microscopy as regionally specialized structures on plasma membranes of contacting adherent cells. These structures were shown to consist of cell-to-cell channels that facilitate the transfer of ions and small molecules between cells. The gap junction proteins, also known as connexins, purified from fractions of enriched gap junctions from different tissues differ. According to sequence similarities at the nucleotide and amino acid levels, the gap junction proteins are divided into two categories, alpha and beta. Mutations in this gene are responsible for as much as 50% of pre-lingual, recessive deafness. [provided by RefSeq, Oct 2008]

External links

Ensembl, UniProt, Entrez gene, neXtProt, Antibodypedia

No of splice variants

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

SUBCELLULAR LOCATION SUMMARY

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Main location(s)

Additional location(s)

 

Staining summary

No staining was observed in any of the three cell lines.

Reliability (Single)

Antibodies in assay

CAB013093
 

NORMAL TISSUE & ORGAN SUMMARY

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Staining summary

Glandular cells of the gastrointestinal tract, breast and gall bladder showed strong cytoplasmic positivity along with hepatocytes, urothelium and testis. Basal cells of prostate glands and the basal layer of squamous epithelia also displayed distinct positivity. Remaining normal tissues were generally negative.

Tissue specificity

Staining in 35 out of 81 cell types

Reliability (Single)

Antibodies in assay

CAB013093
 

Organ

No of cell types

Antibody staining

CNS (brain) 11
Hematopoietic (blood) 8
Liver and pancreas 5
Digestive (GI-tract) 13
Respiratory (lung) 4
Cardiovascular 1
Female tissues 13
Placenta 2
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 36% of the cancers

Antibodies in assay

CAB013093
 

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

High
 

Cell line

Cell origin

RNA abundance

IH staining

IF intensity

CAB013093

CAB013093

A-431 Skin Medium
A-549 Lung Low
CACO-2 Colon Low
HEK 293 Embryonal kidney Low
HeLa Cervix Not detected
Hep-G2 Liver Low
MCF-7 Pleural effusion Low
PC-3 Bone marrow Medium
RT-4 Urinary bladder High
U-2 OS Bone Low
Negative
U-251 MG Brain Medium
Negative

ANTIBODY SUMMARY

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Antibody

Clonality

Validation

CAB013093 pAb