GPHN

GENE INFORMATION

? »

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 VIEW

? »
 
 
 
GPHN-003
 
GPHN-004
 
GPHN-006
 
GPHN-007
 
GPHN-014
 
GPHN-017
 
GPHN-019
 
 
 
 
 

PROTEIN INFORMATION

? »

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