GPHN

GENERAL INFORMATION

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Gene name

GPHN

Gene description

Gephyrin

Protein class

Cancer-related genes
Cytoskeleton related proteins
Disease related genes
Enzymes
Potential drug targets
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

7
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Cytoplasmic expression in several cell types.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Supportive based on 3 antibodies.
HPA003116 , HPA024694 , CAB004419
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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Gene name

GPHN (HGNC Symbol)

Synonyms

KIAA1385

Description

Gephyrin (HGNC Symbol)

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]

Chromosome

14

Cytoband

q23.3

Chromosome location (bp)

66507407 - 67181803

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000171723 (version 78.38)

Entrez gene

10243

UniProt

Q9NQX3 (UniProt - Evidence at protein level)

neXtProt

NX_Q9NQX3

Antibodypedia

GPHN antibodies


PROTEIN BROWSER

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ENST00000315266
 
ENST00000459628
 
ENST00000478722
 
ENST00000543237
 
ENST00000555456
 
ENST00000555503
 
ENST00000556240
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

GPHN-003 ENSP00000312771
ENST00000315266
Q9NQX3
Show all »
Show » Show » 736 79.7 No 0
GPHN-004 ENSP00000452220
ENST00000459628
G3V582
Show all »
Show » Show » 380 41.4 No 0
GPHN-006 ENSP00000417901
ENST00000478722
Q9NQX3
Show all »
Show » Show » 769 83.4 No 0
GPHN-007 ENSP00000438404
ENST00000543237
F5H039
Show all »
Show » Show » 782 84.7 No 0
GPHN-014 ENSP00000450706
ENST00000555456
H0YJ30
Show all »
Show » Show » 280 30.1 No 0
GPHN-017 ENSP00000452009
ENST00000555503
H0YJR5
Show all »
Show » Show » 201 21.7 No 0
GPHN-019 ENSP00000450442
ENST00000556240
Show » 60 6.8 No 0