QuickView for gephyrin (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 ...

View Full 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.

View Less

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

View More

View Less

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

View More

View Less

Cytogenetic Map:

14q23.3-q24.1

search → result