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Gene : GPHN Homo sapiens

Name  ? gephyrin Cytological Location  14q23.3-q24.1
Brief Description  gephyrin
Description  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]
  • synonyms:
  • GPHRYN,
  • GEPH,
  • HGNC:15465,
  • AB037806,
  • uc001xix.4,
  • KIAA1385,
  • HKPX1,
  • GPH,
  • GPHN,
  • OTTHUMG00000029785,
  • MOCODC,
  • NM_020806
  • identifiers:
  • 10243,
  • ENSG00000171723,
  • GPHN

Genome feature

Region: gene ? Length: 673872  
Location: 14:66507934-67181805 Cyto location: 14q23.3-q24.1


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Function

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Proteins

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SNPs

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Disease

2 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Expression

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Other

3753 SN Ps

5 Cross References

19 Data Sets

7 Homologues

0 Located Features

97 Rna Seq Results