U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

GPHN gephyrin [ Homo sapiens (human) ]

Gene ID: 10243, updated on 6-Nov-2022

Summary

Official Symbol
GPHNprovided by HGNC
Official Full Name
gephyrinprovided by HGNC
Primary source
HGNC:HGNC:15465
See related
Ensembl:ENSG00000171723 MIM:603930; AllianceGenome:HGNC:15465
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GPH; GEPH; HKPX1; GPHRYN; MOCODC
Summary
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]
Expression
Ubiquitous expression in kidney (RPKM 7.5), liver (RPKM 6.6) and 25 other tissues See more
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See GPHN in Genome Data Viewer
Location:
14q23.3-q24.1
Exon count:
29
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (66508147..67735355)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (60715132..61388926)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (66974865..67648520)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 5211 Neighboring gene coiled-coil domain containing 196 Neighboring gene uncharacterized LOC124903332 Neighboring gene probable ribosome biogenesis protein RLP24 Neighboring gene uncharacterized LOC105370538 Neighboring gene Sharpr-MPRA regulatory region 5377 Neighboring gene uncharacterized LOC124903330 Neighboring gene splicing factor 3b, subunit 4 pseudogene 1 Neighboring gene golgi associated RAB2 interactor family member 2 Neighboring gene protein associated with LIN7 1, MAGUK p55 family member Neighboring gene GATA motif-containing MPRA enhancer 49 Neighboring gene ATPase H+ transporting V1 subunit D Neighboring gene uncharacterized LOC105370542 Neighboring gene eukaryotic translation initiation factor 2 subunit alpha Neighboring gene pleckstrin 2 Neighboring gene microRNA 5694 Neighboring gene transmembrane protein 229B Neighboring gene protein kinase C eta pseudogene Neighboring gene uncharacterized LOC124903331 Neighboring gene pleckstrin homology, MyTH4 and FERM domain containing H1 Neighboring gene Sharpr-MPRA regulatory region 4541 Neighboring gene high mobility group box 1 pseudogene 34 Neighboring gene RNA, 5S ribosomal pseudogene 386 Neighboring gene cytochrome c oxidase subunit 7A2 pseudogene 1 Neighboring gene phosphatidylinositol glycan anchor biosynthesis class H Neighboring gene RNA, 7SL, cytoplasmic 369, pseudogene Neighboring gene arginase 2 Neighboring gene vesicle transport through interaction with t-SNAREs 1B Neighboring gene DnaJ heat shock protein family (Hsp40) member C9 pseudogene Neighboring gene RNA, 7SL, cytoplasmic 213, pseudogene Neighboring gene retinol dehydrogenase 11 Neighboring gene ribosomal protein L21 pseudogene 9 Neighboring gene zinc finger FYVE-type containing 26 Neighboring gene retinol dehydrogenase 12

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Copy number response

Description
Copy number response
Haploinsufficency

Some evidence for dosage pathogenicity (Last evaluated 2022-06-22)

ClinGen Genome Curation PagePubMed
Triplosensitivity

No evidence available (Last evaluated 2022-06-22)

ClinGen Genome Curation Page

EBI GWAS Catalog

Description
A genome-wide association study of depressive symptoms.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA1385

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
 
enables identical protein binding IDA
Inferred from Direct Assay
more info
PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables molybdopterin adenylyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
enables molybdopterin cofactor binding IDA
Inferred from Direct Assay
more info
PubMed 
enables molybdopterin molybdotransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables nitrate reductase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytosol ISS
Inferred from Sequence or Structural Similarity
more info
 
is_active_in dendrite IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in dendrite IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
 
located_in postsynaptic density ISS
Inferred from Sequence or Structural Similarity
more info
 
is_active_in postsynaptic membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in postsynaptic membrane IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in postsynaptic specialization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in postsynaptic specialization membrane IEA
Inferred from Electronic Annotation
more info
 
located_in synaptic membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in synaptic membrane ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
gephyrin
NP_001019389.1
NP_001364443.1
NP_001364444.1
NP_001364445.1
NP_001364446.1
NP_001364447.1
NP_001364448.1
NP_065857.1
XP_011534642.1
XP_011534644.1
XP_011534645.1
XP_011534646.1
XP_011534647.1
XP_016876402.1
XP_016876403.1
XP_016876406.1
XP_016876407.1
XP_047286831.1
XP_047286832.1
XP_047286833.1
XP_047286834.1
XP_047286835.1
XP_047286836.1

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008875.2 RefSeqGene

    Range
    5002..678658
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001024218.2NP_001019389.1  gephyrin isoform 2

    See identical proteins and their annotated locations for NP_001019389.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2), also known as Geph2, lacks an alternate, in-frame exon, compared to variant 1. It encodes isoform 2, which is shorter than isoform 1.
    Source sequence(s)
    AL049835, AL117667, AL133241, AL135978, AL159179, AL355093
    Consensus CDS
    CCDS32103.1
    UniProtKB/Swiss-Prot
    Q9NQX3, Q9P2G2
    Related
    ENSP00000312771.5, ENST00000315266.9
    Conserved Domains (2) summary
    cd00886
    Location:15169
    MogA_MoaB; MogA_MoaB family. Members of this family are involved in biosynthesis of the molybdenum cofactor (MoCF) an essential cofactor of a diverse group of redox enzymes. MoCF biosynthesis is an evolutionarily conserved pathway present in eubacteria, archaea, ...
    cd00887
    Location:327733
    MoeA; MoeA family. Members of this family are involved in biosynthesis of the molybdenum cofactor (MoCF), an essential cofactor of a diverse group of redox enzymes. MoCF biosynthesis is an evolutionarily conserved pathway present in eubacteria, archaea and ...
  2. NM_001377514.1NP_001364443.1  gephyrin isoform 3

    Status: REVIEWED

    Source sequence(s)
    AL049835, AL117667, AL133241, AL135978, AL159179, AL355093
    Conserved Domains (2) summary
    cd00886
    Location:15182
    MogA_MoaB; MogA_MoaB family. Members of this family are involved in biosynthesis of the molybdenum cofactor (MoCF) an essential cofactor of a diverse group of redox enzymes. MoCF biosynthesis is an evolutionarily conserved pathway present in eubacteria, archaea, ...
    cd00887
    Location:380786
    MoeA; MoeA family. Members of this family are involved in biosynthesis of the molybdenum cofactor (MoCF), an essential cofactor of a diverse group of redox enzymes. MoCF biosynthesis is an evolutionarily conserved pathway present in eubacteria, archaea and ...
  3. NM_001377515.1NP_001364444.1  gephyrin isoform 4

    Status: REVIEWED

    Source sequence(s)
    AL049835, AL117667, AL133241, AL135978, AL159179, AL355093
    Conserved Domains (2) summary
    cd00886
    Location:15169
    MogA_MoaB; MogA_MoaB family. Members of this family are involved in biosynthesis of the molybdenum cofactor (MoCF) an essential cofactor of a diverse group of redox enzymes. MoCF biosynthesis is an evolutionarily conserved pathway present in eubacteria, archaea, ...
    cd00887
    Location:370776
    MoeA; MoeA family. Members of this family are involved in biosynthesis of the molybdenum cofactor (MoCF), an essential cofactor of a diverse group of redox enzymes. MoCF biosynthesis is an evolutionarily conserved pathway present in eubacteria, archaea and ...
  4. NM_001377516.1NP_001364445.1  gephyrin isoform 5

    Status: REVIEWED

    Source sequence(s)
    AL049835, AL117667, AL133241, AL135978, AL159179, AL355093
    Conserved Domains (2) summary
    cd00886
    Location:15169
    MogA_MoaB; MogA_MoaB family. Members of this family are involved in biosynthesis of the molybdenum cofactor (MoCF) an essential cofactor of a diverse group of redox enzymes. MoCF biosynthesis is an evolutionarily conserved pathway present in eubacteria, archaea, ...
    cd00887
    Location:367773
    MoeA; MoeA family. Members of this family are involved in biosynthesis of the molybdenum cofactor (MoCF), an essential cofactor of a diverse group of redox enzymes. MoCF biosynthesis is an evolutionarily conserved pathway present in eubacteria, archaea and ...
  5. NM_001377517.1NP_001364446.1  gephyrin isoform 6

    Status: REVIEWED

    Source sequence(s)
    AL049835, AL117667, AL133241, AL135978, AL159179, AL355093
    Conserved Domains (2) summary
    cd00886
    Location:15169
    MogA_MoaB; MogA_MoaB family. Members of this family are involved in biosynthesis of the molybdenum cofactor (MoCF) an essential cofactor of a diverse group of redox enzymes. MoCF biosynthesis is an evolutionarily conserved pathway present in eubacteria, archaea, ...
    cd00887
    Location:351757
    MoeA; MoeA family. Members of this family are involved in biosynthesis of the molybdenum cofactor (MoCF), an essential cofactor of a diverse group of redox enzymes. MoCF biosynthesis is an evolutionarily conserved pathway present in eubacteria, archaea and ...
  6. NM_001377518.1NP_001364447.1  gephyrin isoform 7

    Status: REVIEWED

    Source sequence(s)
    AL049835, AL117667, AL133241, AL135978, AL159179, AL355093
    Conserved Domains (2) summary
    cd00886
    Location:15169
    MogA_MoaB; MogA_MoaB family. Members of this family are involved in biosynthesis of the molybdenum cofactor (MoCF) an essential cofactor of a diverse group of redox enzymes. MoCF biosynthesis is an evolutionarily conserved pathway present in eubacteria, archaea, ...
    cd00887
    Location:346752
    MoeA; MoeA family. Members of this family are involved in biosynthesis of the molybdenum cofactor (MoCF), an essential cofactor of a diverse group of redox enzymes. MoCF biosynthesis is an evolutionarily conserved pathway present in eubacteria, archaea and ...
  7. NM_001377519.1NP_001364448.1  gephyrin isoform 8

    Status: REVIEWED

    Source sequence(s)
    AL049835, AL117667, AL133241, AL135978, AL159179, AL355093
    Conserved Domains (2) summary
    cd00886
    Location:15182
    MogA_MoaB; MogA_MoaB family. Members of this family are involved in biosynthesis of the molybdenum cofactor (MoCF) an essential cofactor of a diverse group of redox enzymes. MoCF biosynthesis is an evolutionarily conserved pathway present in eubacteria, archaea, ...
    cd00887
    Location:340746
    MoeA; MoeA family. Members of this family are involved in biosynthesis of the molybdenum cofactor (MoCF), an essential cofactor of a diverse group of redox enzymes. MoCF biosynthesis is an evolutionarily conserved pathway present in eubacteria, archaea and ...
  8. NM_020806.5NP_065857.1  gephyrin isoform 1

    See identical proteins and their annotated locations for NP_065857.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1), also known as GephP1, represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AL049835, AL117667, AL133241, AL135978, AL159179, AL355093
    Consensus CDS
    CCDS9777.1
    UniProtKB/Swiss-Prot
    Q9NQX3
    Related
    ENSP00000417901.1, ENST00000478722.6
    Conserved Domains (2) summary
    cd00886
    Location:15169
    MogA_MoaB; MogA_MoaB family. Members of this family are involved in biosynthesis of the molybdenum cofactor (MoCF) an essential cofactor of a diverse group of redox enzymes. MoCF biosynthesis is an evolutionarily conserved pathway present in eubacteria, archaea, ...
    cd00887
    Location:360766
    MoeA; MoeA family. Members of this family are involved in biosynthesis of the molybdenum cofactor (MoCF), an essential cofactor of a diverse group of redox enzymes. MoCF biosynthesis is an evolutionarily conserved pathway present in eubacteria, archaea and ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    66508147..67735355
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047430879.1XP_047286835.1  gephyrin isoform X13

  2. XM_011536340.4XP_011534642.1  gephyrin isoform X1

    See identical proteins and their annotated locations for XP_011534642.1

    Conserved Domains (2) summary
    cd00886
    Location:15182
    MogA_MoaB; MogA_MoaB family. Members of this family are involved in biosynthesis of the molybdenum cofactor (MoCF) an essential cofactor of a diverse group of redox enzymes. MoCF biosynthesis is an evolutionarily conserved pathway present in eubacteria, archaea, ...
    cd00887
    Location:416822
    MoeA; MoeA family. Members of this family are involved in biosynthesis of the molybdenum cofactor (MoCF), an essential cofactor of a diverse group of redox enzymes. MoCF biosynthesis is an evolutionarily conserved pathway present in eubacteria, archaea and ...
  3. XM_017020913.3XP_016876402.1  gephyrin isoform X2

    Conserved Domains (2) summary
    cd00886
    Location:15182
    MogA_MoaB; MogA_MoaB family. Members of this family are involved in biosynthesis of the molybdenum cofactor (MoCF) an essential cofactor of a diverse group of redox enzymes. MoCF biosynthesis is an evolutionarily conserved pathway present in eubacteria, archaea, ...
    cd00887
    Location:413819
    MoeA; MoeA family. Members of this family are involved in biosynthesis of the molybdenum cofactor (MoCF), an essential cofactor of a diverse group of redox enzymes. MoCF biosynthesis is an evolutionarily conserved pathway present in eubacteria, archaea and ...
  4. XM_011536343.4XP_011534645.1  gephyrin isoform X5

    See identical proteins and their annotated locations for XP_011534645.1

    Conserved Domains (2) summary
    cd00886
    Location:15182
    MogA_MoaB; MogA_MoaB family. Members of this family are involved in biosynthesis of the molybdenum cofactor (MoCF) an essential cofactor of a diverse group of redox enzymes. MoCF biosynthesis is an evolutionarily conserved pathway present in eubacteria, archaea, ...
    cd00887
    Location:392798
    MoeA; MoeA family. Members of this family are involved in biosynthesis of the molybdenum cofactor (MoCF), an essential cofactor of a diverse group of redox enzymes. MoCF biosynthesis is an evolutionarily conserved pathway present in eubacteria, archaea and ...
  5. XM_017020914.3XP_016876403.1  gephyrin isoform X4

    Conserved Domains (2) summary
    cd00886
    Location:15182
    MogA_MoaB; MogA_MoaB family. Members of this family are involved in biosynthesis of the molybdenum cofactor (MoCF) an essential cofactor of a diverse group of redox enzymes. MoCF biosynthesis is an evolutionarily conserved pathway present in eubacteria, archaea, ...
    cd00887
    Location:397803
    MoeA; MoeA family. Members of this family are involved in biosynthesis of the molybdenum cofactor (MoCF), an essential cofactor of a diverse group of redox enzymes. MoCF biosynthesis is an evolutionarily conserved pathway present in eubacteria, archaea and ...
  6. XM_011536345.4XP_011534647.1  gephyrin isoform X9

    See identical proteins and their annotated locations for XP_011534647.1

    Conserved Domains (2) summary
    cd00886
    Location:15182
    MogA_MoaB; MogA_MoaB family. Members of this family are involved in biosynthesis of the molybdenum cofactor (MoCF) an essential cofactor of a diverse group of redox enzymes. MoCF biosynthesis is an evolutionarily conserved pathway present in eubacteria, archaea, ...
    cd00887
    Location:373779
    MoeA; MoeA family. Members of this family are involved in biosynthesis of the molybdenum cofactor (MoCF), an essential cofactor of a diverse group of redox enzymes. MoCF biosynthesis is an evolutionarily conserved pathway present in eubacteria, archaea and ...
  7. XM_011536344.4XP_011534646.1  gephyrin isoform X7

    See identical proteins and their annotated locations for XP_011534646.1

    Conserved Domains (2) summary
    cd00886
    Location:15182
    MogA_MoaB; MogA_MoaB family. Members of this family are involved in biosynthesis of the molybdenum cofactor (MoCF) an essential cofactor of a diverse group of redox enzymes. MoCF biosynthesis is an evolutionarily conserved pathway present in eubacteria, archaea, ...
    cd00887
    Location:383789
    MoeA; MoeA family. Members of this family are involved in biosynthesis of the molybdenum cofactor (MoCF), an essential cofactor of a diverse group of redox enzymes. MoCF biosynthesis is an evolutionarily conserved pathway present in eubacteria, archaea and ...
  8. XM_017020918.3XP_016876407.1  gephyrin isoform X11

    Related
    ENSP00000438404.1, ENST00000543237.5
    Conserved Domains (2) summary
    cd00886
    Location:15182
    MogA_MoaB; MogA_MoaB family. Members of this family are involved in biosynthesis of the molybdenum cofactor (MoCF) an essential cofactor of a diverse group of redox enzymes. MoCF biosynthesis is an evolutionarily conserved pathway present in eubacteria, archaea, ...
    cd00887
    Location:359765
    MoeA; MoeA family. Members of this family are involved in biosynthesis of the molybdenum cofactor (MoCF), an essential cofactor of a diverse group of redox enzymes. MoCF biosynthesis is an evolutionarily conserved pathway present in eubacteria, archaea and ...
  9. XM_017020917.3XP_016876406.1  gephyrin isoform X10

  10. XM_011536342.4XP_011534644.1  gephyrin isoform X3

    See identical proteins and their annotated locations for XP_011534644.1

    Conserved Domains (2) summary
    cd00886
    Location:15169
    MogA_MoaB; MogA_MoaB family. Members of this family are involved in biosynthesis of the molybdenum cofactor (MoCF) an essential cofactor of a diverse group of redox enzymes. MoCF biosynthesis is an evolutionarily conserved pathway present in eubacteria, archaea, ...
    cd00887
    Location:403809
    MoeA; MoeA family. Members of this family are involved in biosynthesis of the molybdenum cofactor (MoCF), an essential cofactor of a diverse group of redox enzymes. MoCF biosynthesis is an evolutionarily conserved pathway present in eubacteria, archaea and ...
  11. XM_047430876.1XP_047286832.1  gephyrin isoform X8

  12. XM_047430875.1XP_047286831.1  gephyrin isoform X6

  13. XM_047430878.1XP_047286834.1  gephyrin isoform X12

  14. XM_047430877.1XP_047286833.1  gephyrin isoform X12

  15. XM_047430880.1XP_047286836.1  gephyrin isoform X14

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    60715132..61388926
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)