QuickView for GPHN (gene)

Gene Symbol:

GPHN Homo sapiens

Full name:

gephyrin

Synonyms:

GEPH, GPH, GPHRYN, HKPX1, MOCODC, gephyrin

Genomic Location:

Chr 14: 66043878-66718278

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 ...

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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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  D. melanogaster ,  C. elegans ,  Macaca mulatta ,  Gallus gallus ,  Pan troglodytes ,  Canis lupus familiaris ,  Bos taurus ,  Danio rerio

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

GATTGGY_NFY_Q6_01 ,  TGIF_01 ,  STAT4_01 ,  STAT6_02 ,  GCANCTGNY_MYOD_Q6 ,  AACTGGA_MIR145 ,  NFKAPPAB_01 ,  TAGCTTT_MIR9 ,  MYB_Q5_01 ,  GGGAGGRR_MAZ_Q6 ,  GTAGGCA_MIR189 ,  STAT3_02 ,  TCTGATA_MIR361 ,  PXR_Q2 ,  EGR_Q6 ,  GGGCGGR_SP1_Q6 ,  ATGTTAA_MIR302C ,  HSF_Q6 ,  MEIS1_01 ,  ATATGCA_MIR448 ,  CHOP_01 ,  WTTGKCTG_UNKNOWN ,  CTGCAGY_UNKNOWN ,  TGCTTTG_MIR330 ,  TGACAGNY_MEIS1_01 ,  EGR1_01 ,  NFKB_Q6_01 ,  ZF5_B ,  NFKB_C ,  ACATATC_MIR190 ,  CCTNTMAGA_UNKNOWN ,  MYB_Q3

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miRNA binding sites
(Source: TargetScan):

Predicted Gene Targets for miR-138 ,  Predicted Gene Targets for miR-145 ,  Predicted Gene Targets for miR-153 ,  Predicted Gene Targets for miR-189 ,  Predicted Gene Targets for miR-190 ,  Predicted Gene Targets for miR-141 ,  Predicted Gene Targets for miR-330 ,  Predicted Gene Targets for miR-361 ,  Predicted Gene Targets for miR-448 ,  Predicted Gene Targets for miR-539 ,  Predicted Gene Targets for miR-299-3p ,  Predicted Gene Targets for miR-375 ,  Predicted Gene Targets for miR-543 ,  Predicted Gene Targets for miR-544

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Cytogenetic Map:

14q23.3-q24.1

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