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Gene: GPHN (gephyrin) Homo sapiens
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Symbol: GPHN
Name: gephyrin
Description: Exhibits molybdopterin cofactor binding activity and nitrate reductase activity. Involved in gamma-aminobutyric acid receptor clustering; molybdopterin cofactor biosynthetic process; and response to metal ion. Localizes to the dendrite and postsynaptic membrane. Implicated in inherited metabolic disorder and molybdenum cofactor deficiency type C.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: GEPH; GPH; GPHRYN; HKPX1; KIAA1385; MOCODC
Orthologs:
Mus musculus (house mouse) : Gphn (gephyrin)  MGI  Alliance
Rattus norvegicus (Norway rat) : Gphn (gephyrin)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Gphn (gephyrin)
Pan paniscus (bonobo/pygmy chimpanzee) : GPHN (gephyrin)
Canis lupus familiaris (dog) : GPHN (gephyrin)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Gphn (gephyrin)
Sus scrofa (pig) : GPHN (gephyrin)
Chlorocebus sabaeus (green monkey) : GPHN (gephyrin)
Heterocephalus glaber (naked mole-rat) : Gphn (gephyrin)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38 Ensembl1466,507,407 - 67,181,803 (+)Ensembl
GRCh381466,507,407 - 67,735,831 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371466,974,125 - 67,648,525 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361466,043,878 - 66,718,278 (+)NCBINCBI36hg18NCBI36
Build 341466,044,988 - 66,718,268NCBI
Celera1447,033,183 - 47,707,584 (+)NCBI
Cytogenetic Map14q23.3-q24.1NCBI
HuRef1447,144,073 - 47,817,837 (+)NCBIHuRef
CHM1_11466,912,247 - 67,587,111 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression

RNA-SEQ Expression

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
 
More on GPHN
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 69477
Created: 2001-11-27
Species: Homo sapiens
Last Modified: 2020-01-28
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.