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GPHN

CANCER ATLAS

Gene description

 Gephyrin

Protein class

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

Protein evidence

 Evidence at protein level
Colorectal cancer
Breast cancer
Prostate cancer
Lung cancer
Liver cancer

STAINING SUMMARY
HPA003116
HPA024694
CAB004419

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 83.38)

Entrez gene

 10243

UniProt

 Q9NQX3 (UniProt - Evidence at protein level)

neXtProt

 NX_Q9NQX3

Antibodypedia

 GPHN antibodies

PROTEIN BROWSER
GPHN-003
GPHN-004
GPHN-006
GPHN-007
GPHN-014
GPHN-017
GPHN-019

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
GPHN-003
ENSP00000312771
ENST00000315266
Q9NQX3 [Direct mapping]
Gephyrin Molybdopterin adenylyltransferase Molybdopterin molybdenumtransferase
Show all
Enzymes
   ENZYME proteins
   Transferases
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Cancer-related genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Translocations
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005524 [ATP binding]
GO:0005737 [cytoplasm]
GO:0005856 [cytoskeleton]
GO:0005886 [plasma membrane]
GO:0006766 [vitamin metabolic process]
GO:0006767 [water-soluble vitamin metabolic process]
GO:0006777 [Mo-molybdopterin cofactor biosynthetic process]
GO:0018315 [molybdenum incorporation into molybdenum-molybdopterin complex]
GO:0030054 [cell junction]
GO:0032324 [molybdopterin cofactor biosynthetic process]
GO:0044281 [small molecule metabolic process]
GO:0045211 [postsynaptic membrane]
GO:0046872 [metal ion binding]
GO:0061598 [molybdopterin adenylyltransferase activity]
GO:0061599 [molybdopterin molybdotransferase activity]
GO:0072579 [glycine receptor clustering]
Show all
 736 aa
79.7 kDa 		No 0
GPHN-004
ENSP00000452220
ENST00000459628
G3V582 [Direct mapping]
Gephyrin
Show all
   SCAMPI predicted membrane proteins
Predicted intracellular proteins
Cancer-related genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Translocations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005737 [cytoplasm]
GO:0006777 [Mo-molybdopterin cofactor biosynthetic process]
GO:0018315 [molybdenum incorporation into molybdenum-molybdopterin complex]
GO:0061598 [molybdopterin adenylyltransferase activity]
GO:0061599 [molybdopterin molybdotransferase activity]
GO:0072579 [glycine receptor clustering]
Show all
 380 aa
41.4 kDa 		No 0
GPHN-006
ENSP00000417901
ENST00000478722
Q9NQX3 [Direct mapping]
Gephyrin Molybdopterin adenylyltransferase Molybdopterin molybdenumtransferase
Show all
Enzymes
   ENZYME proteins
   Transferases
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Cancer-related genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Translocations
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005524 [ATP binding]
GO:0005622 [intracellular]
GO:0005737 [cytoplasm]
GO:0005856 [cytoskeleton]
GO:0005886 [plasma membrane]
GO:0006766 [vitamin metabolic process]
GO:0006767 [water-soluble vitamin metabolic process]
GO:0006777 [Mo-molybdopterin cofactor biosynthetic process]
GO:0007529 [establishment of synaptic specificity at neuromuscular junction]
GO:0018315 [molybdenum incorporation into molybdenum-molybdopterin complex]
GO:0030054 [cell junction]
GO:0032324 [molybdopterin cofactor biosynthetic process]
GO:0044281 [small molecule metabolic process]
GO:0045211 [postsynaptic membrane]
GO:0046872 [metal ion binding]
GO:0061598 [molybdopterin adenylyltransferase activity]
GO:0061599 [molybdopterin molybdotransferase activity]
GO:0072579 [glycine receptor clustering]
Show all
 769 aa
83.4 kDa 		No 0
GPHN-007
ENSP00000438404
ENST00000543237
F5H039 [Direct mapping]
Gephyrin
Show all
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Cancer-related genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Translocations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005737 [cytoplasm]
GO:0006777 [Mo-molybdopterin cofactor biosynthetic process]
GO:0018315 [molybdenum incorporation into molybdenum-molybdopterin complex]
GO:0032324 [molybdopterin cofactor biosynthetic process]
GO:0061598 [molybdopterin adenylyltransferase activity]
GO:0061599 [molybdopterin molybdotransferase activity]
GO:0072579 [glycine receptor clustering]
Show all
 782 aa
84.7 kDa 		No 0
GPHN-014
ENSP00000450706
ENST00000555456
H0YJ30 [Direct mapping]
Gephyrin
Show all
Predicted intracellular proteins
Cancer-related genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Translocations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005737 [cytoplasm]
GO:0006777 [Mo-molybdopterin cofactor biosynthetic process]
GO:0018315 [molybdenum incorporation into molybdenum-molybdopterin complex]
GO:0061598 [molybdopterin adenylyltransferase activity]
GO:0061599 [molybdopterin molybdotransferase activity]
GO:0072579 [glycine receptor clustering]
Show all
 280 aa
30.1 kDa 		No 0
GPHN-017
ENSP00000452009
ENST00000555503
H0YJR5 [Direct mapping]
Gephyrin
Show all
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Cancer-related genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Translocations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005737 [cytoplasm]
GO:0006777 [Mo-molybdopterin cofactor biosynthetic process]
GO:0018315 [molybdenum incorporation into molybdenum-molybdopterin complex]
GO:0061598 [molybdopterin adenylyltransferase activity]
GO:0061599 [molybdopterin molybdotransferase activity]
GO:0072579 [glycine receptor clustering]
Show all
 201 aa
21.7 kDa 		No 0
GPHN-019
ENSP00000450442
ENST00000556240
H0YIY4 [Direct mapping]
Gephyrin
Show all
Predicted intracellular proteins
Cancer-related genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Translocations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005737 [cytoplasm]
GO:0006777 [Mo-molybdopterin cofactor biosynthetic process]
GO:0018315 [molybdenum incorporation into molybdenum-molybdopterin complex]
GO:0061598 [molybdopterin adenylyltransferase activity]
GO:0061599 [molybdopterin molybdotransferase activity]
GO:0072579 [glycine receptor clustering]
Show all
 60 aa
6.8 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.