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GENE AND PROTEIN SUMMARY

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Gene name

JPH3

Description

junctophilin 3

Protein class

Mapped to UniProt SWISS-PROT, Potential transmembrane proteins

Protein evidence

Medium

Entrez gene summary

Junctional complexes between the plasma membrane and endoplasmic/sarcoplasmic reticulum are a common feature of all excitable cell types and mediate cross talk between cell surface and intracellular ion channels. The protein encoded by this gene is a component of junctional complexes and is composed of a C-terminal hydrophobic segment spanning the endoplasmic/sarcoplasmic reticulum membrane and a remaining cytoplasmic domain that shows specific affinity for the plasma membrane. CAG/CTG repeat expansions at the Huntington's disease (HD)-like 2 locus have been identified in this gene, which is a member of the junctophilin gene family. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2012]

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)

Cytoskeleton (Intermediate filaments)

Additional location(s)

 

Staining summary

Staining of cytoskeleton (intermediate filaments) in A-431.

Reliability (Single)

Antibodies in assay

HPA026958
 

NORMAL TISSUE & ORGAN SUMMARY

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Staining summary

Moderate to strong cytoplasmic positivity with a granular pattern was observed in most normal tissues. Muscle and glial cells were generally negative.

Tissue specificity

Staining in 60 out of 79 cell types

Reliability (Single)

Antibodies in assay

HPA026958
 

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 12
Placenta 2
Male tissues 5
Urinary tract (kidney) 3
Skin and soft tissues 12
Endocrine tissues 3

Level of antibody staining





Strong
Moderate
Weak
Negative

CANCER TISSUE SUMMARY

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Staining summary

Antibody staining in 92% of the cancers

Antibodies in assay

HPA026958
 

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

Medium
 

Cell line

Cell origin

RNA abundance

IH staining

IF intensity

HPA026958

HPA026958

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

ANTIBODY SUMMARY

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Antibody

Clonality

Validation

HPA026958 pAb