Human Gene GPHN (ENST00000459628.5)
  Description: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data. (from UniProt G3V582)
RefSeq Summary (NM_020806): 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].
Gencode Transcript: ENST00000459628.5
Gencode Gene: ENSG00000171723.16
Transcript (Including UTRs)
   Position: hg38 chr14:66,508,138-67,059,029 Size: 550,892 Total Exon Count: 11 Strand: +
Coding Region
   Position: hg38 chr14:66,508,528-67,058,839 Size: 550,312 Coding Exon Count: 11 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesmRNA DescriptionsPathways
Other NamesMethods
Data last updated at UCSC: 2021-01-14 15:32:12

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr14:66,508,138-67,059,029)mRNA (may differ from genome)Protein (380 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblExonPrimerGeneCardsHGNCLynx
MGIPubMedUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: G3V582_HUMAN
DESCRIPTION: SubName: Full=Gephyrin;
CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.

-  MalaCards Disease Associations
  MalaCards Gene Search: GPHN
Diseases sorted by gene-association score: molybdenum cofactor deficiency c* (1650), hyperekplexia* (193), gphn-related hyperekplexia* (100), molybdenum cofactor deficiency (36), stiff-person syndrome (16), geniculate herpes zoster (11), charcot-marie-tooth disease, type 2d (9), spastic paraplegia 24, autosomal recessive (7), mediastinal cancer (7), acute monoblastic leukemia (6), autism spectrum disorder (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 18.55 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 250.24 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -151.30390-0.388 Picture PostScript Text
3' UTR -29.10190-0.153 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001453 - Mopterin-bd

Pfam Domains:
PF00994 - Probable molybdopterin binding domain

ModBase Predicted Comparative 3D Structure on G3V582
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Descriptions from all associated GenBank mRNAs
  AB037806 - Homo sapiens KIAA1385 mRNA for KIAA1385 protein.
AF272663 - Homo sapiens gephyrin mRNA, complete cds.
AK315569 - Homo sapiens cDNA, FLJ96642, highly similar to Homo sapiens gephyrin (GPHN), mRNA.
AJ272343 - Homo sapiens mRNA for gephyrin (GPHN gene).
AK294532 - Homo sapiens cDNA FLJ54713 complete cds, highly similar to Gephyrin.
AK297447 - Homo sapiens cDNA FLJ54094 complete cds, highly similar to Gephyrin.
BC030016 - Homo sapiens gephyrin, mRNA (cDNA clone MGC:32983 IMAGE:4826821), complete cds.
DQ892463 - Synthetic construct clone IMAGE:100005093; FLH186553.01X; RZPDo839F0971D gephyrin (GPHN) gene, encodes complete protein.
DQ895675 - Synthetic construct Homo sapiens clone IMAGE:100010135; FLH186549.01L; RZPDo839F0961D gephyrin (GPHN) gene, encodes complete protein.
AB385462 - Synthetic construct DNA, clone: pF1KA1385, Homo sapiens GPHN gene for gephyrin, complete cds, without stop codon, in Flexi system.
AJ272033 - Homo sapiens mRNA for gephyrin (GPHRYN gene).
AK295577 - Homo sapiens cDNA FLJ54093 complete cds, highly similar to Gephyrin.
AK025169 - Homo sapiens cDNA: FLJ21516 fis, clone COL05824.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_gabaPathway - Gamma-aminobutyric Acid Receptor Life Cycle

-  Other Names for This Gene
  Alternate Gene Symbols: AK025169, ENST00000459628.1, ENST00000459628.2, ENST00000459628.3, ENST00000459628.4, G3V582, G3V582_HUMAN, uc001xiw.1, uc001xiw.2, uc001xiw.3, uc001xiw.4
UCSC ID: ENST00000459628.5
RefSeq Accession: NM_020806
Protein: G3V582

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.