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GENE AND PROTEIN SUMMARY

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Gene name

GPHN

Description

gephyrin

Protein class

Enzymes, Mapped to UniProt SWISS-PROT, Mutated genes in cancer, Potential transmembrane proteins

Protein evidence

High

Entrez gene summary

This gene encodes a neuronal assembly protein that anchors inhibitory neurotransmitter receptors to the postsynaptic cytoskeleton via high affinity binding to a receptor subunit domain and tubulin dimers. In nonneuronal tissues, the encoded protein is also required for molybdenum cofactor biosynthesis. Mutations in this gene may be associated with the neurological condition hyperplexia and also lead to molybdenum cofactor deficiency. Numerous alternatively spliced transcript variants encoding different isoforms have been described; however, the full-length nature of all transcript variants is not currently known. [provided by RefSeq, Jul 2008]

External links

Ensembl, UniProt, Entrez gene, neXtProt, Antibodypedia

No of splice variants

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

SUBCELLULAR LOCATION SUMMARY

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Main location(s)

Additional location(s)

 

Staining summary

Protein was not detected.

Reliability (APE)

N/A

Antibodies in assay

HPA003116, CAB004419
 

NORMAL TISSUE & ORGAN SUMMARY

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Expression summary

Cytoplasmic expression in several cell types.

Tissue specificity

Expressed in 35 out of 82 cell types

Reliability (APE)

Medium

Antibodies in assay

HPA003116, CAB004419, HPA024694
 

Organ

No of cell types

Protein expression

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 14
Endocrine tissues 3

Level of annotated protein expression





High
Medium
Low
None

CANCER TISSUE SUMMARY

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Staining summary

Antibody staining in 53% of the cancers

Antibodies in assay

HPA003116, CAB004419, HPA024694
 

Tissue

Cancer staining

Protein
expression of
normal tissue

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

Tissue

Cancer staining

Protein
expression of
normal tissue

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

HPA003116

CAB004419

HPA024694

HPA003116

CAB004419

A-431 Skin High
NegativeNegative
A-549 Lung High
CACO-2 Colon Medium
HEK 293 Embryonal kidney High
HeLa Cervix Medium
Hep-G2 Liver High
MCF-7 Pleural effusion High
PC-3 Bone marrow Medium
RT-4 Urinary bladder Medium
U-2 OS Bone High
NegativeNegative
U-251 MG Brain Medium
NegativeNegative

ANTIBODY SUMMARY

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Antibody

Clonality

Validation

HPA003116 pAb
CAB004419 mAb
HPA024694 pAb