Aliases for GPHN Gene
External Ids for GPHN Gene
- HGNC: 15465
- Entrez Gene: 10243
- Ensembl: ENSG00000171723
- OMIM: 603930
- UniProtKB: Q9NQX3
Previous GeneCards Identifiers for GPHN Gene
- GC14P064480
- GC14P060767
- GC14P064964
- GC14P066043
- GC14P066974
- GC14P047144
Summaries for GPHN Gene
-
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]
GeneCards Summary for GPHN Gene
GPHN (Gephyrin) is a Protein Coding gene. Diseases associated with GPHN include Molybdenum Cofactor Deficiency, Complementation Group C and Hyperekplexia. Among its related pathways are Folate biosynthesis and Metabolism. Gene Ontology (GO) annotations related to this gene include transferase activity and molybdopterin molybdotransferase activity.
UniProtKB/Swiss-Prot for GPHN Gene
-
Microtubule-associated protein involved in membrane protein-cytoskeleton interactions. It is thought to anchor the inhibitory glycine receptor (GLYR) to subsynaptic microtubules. Catalyzes two steps in the biosynthesis of the molybdenum cofactor. In the first step, molybdopterin is adenylated. Subsequently, molybdate is inserted into adenylated molybdopterin and AMP is released.
Additional gene information for GPHN Gene
- Monarch Initiative
- Search for GPHN at DataMed
- Search for GPHN at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GPHN Gene
Genomics for GPHN Gene
GeneHancer (GH) Regulatory Elements for GPHN Gene
Promoters and enhancers for GPHN Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)
GeneHancers around GPHN on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the GPHN gene promoter:
-
- ATF-2
- Ik-3
- c-Rel
- Nkx6-1
- AML1a
- HFH-3
- CUTL1
- FOXI1
- Pax-4a
Regulatory Element Products
Genomic Locations for GPHN Gene
Genomic Locations for GPHN Gene
- chr14:66,507,407-67,181,808
- (GRCh38/hg38)
- Size:
- 674,402 bases
- Orientation:
- Plus strand
- chr14:66,974,125-67,648,525
- (GRCh37/hg19)
- Size:
- 674,401 bases
- Orientation:
- Plus strand
Genomic View for GPHN Gene
Genes around GPHN on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 14q23.3-q24.1 by Entrez Gene
- 14q23.3 by HGNC
- 14q23.3 by Ensembl
GPHN Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for GPHN Gene
Proteins for GPHN Gene
-
Protein details for GPHN Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9NQX3-GEPH_HUMAN
- Recommended name:
- Gephyrin
- Protein Accession:
- Q9NQX3
- Q96KU4
- Q9H4E9
- Q9P2G2
Protein attributes for GPHN Gene
- Size:
- 736 amino acids
- Molecular mass:
- 79748 Da
- Cofactor:
- Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
- Quaternary structure:
-
- Homotrimer, homodimer and homooligomer (PubMed:26613940). Interacts with GABARAP (By similarity). Interacts with SRGAP2 (via SH3 domain) (By similarity). Interacts with GABRA3 (PubMed:26613940). Interacts with GLRB (PubMed:26613940, PubMed:12684523). GABRA3 and GLRB occupy overlapping binding sites (By similarity).
- SequenceCaution:
-
- Sequence=BAA92623.1; Type=Erroneous initiation; Evidence={ECO:0000305};
Protein Expression for GPHN Gene
Post-translational modifications for GPHN Gene
Other Protein References for GPHN Gene
- ENSEMBL proteins:
- REFSEQ proteins:
-
- XP_016876410.1
- XP_016876413.1
- XP_016876403.1
- XP_016876406.1
- XP_016876409.1
- XP_011534646.1
- XP_011534649.1
- XP_016876411.1
- NP_065857.1
- XP_011534644.1
- XP_016876414.1
- XP_016876404.1
- XP_016876407.1
- XP_011534647.1
- XP_011534642.1
- XP_016876412.1
- XP_016876402.1
- NP_001019389.1
- XP_011534645.1
- XP_016876415.1
- XP_016876405.1
- XP_011534648.1
- XP_016876408.1
- XP_005267311.1
Antibody Products
- R&D Systems Antibodies for GPHN (Gephyrin/GPHN)
- Novus Biologicals Antibodies for GPHN
-
Abcam antibodies for GPHN
- Invitrogen Antibodies for GPHN (AFLGC-GPHN)
- GeneTex GPHN Antibody for GPHN
-
Boster Bio Antibodies for GPHN
-
Santa Cruz Biotechnology (SCBT) Antibodies for GPHN
Protein Products
-
OriGene Purified Proteins for GPHN
- Search Origene for MassSpec and Protein Over-expression Lysates for GPHN
- Origene Custom Protein Services for GPHN
- Search GeneTex for Proteins for GPHN
-
Abcam proteins for GPHN
Assay Products
No data available for DME Specific Peptides for GPHN Gene
Domains & Families for GPHN Gene
Gene Families for GPHN Gene
- Human Protein Atlas (HPA):
-
- Cancer-related genes
- Disease related genes
- Enzymes
- Potential drug targets
- Predicted intracellular proteins
Protein Domains for GPHN Gene
Suggested Antigen Peptide Sequences for GPHN Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q9NQX3- Family:
-
- In the N-terminal section; belongs to the MoaB/Mog family.
- In the C-terminal section; belongs to the MoeA family.
Function for GPHN Gene
Molecular function for GPHN Gene
- UniProtKB/Swiss-Prot Function:
- Microtubule-associated protein involved in membrane protein-cytoskeleton interactions. It is thought to anchor the inhibitory glycine receptor (GLYR) to subsynaptic microtubules. Catalyzes two steps in the biosynthesis of the molybdenum cofactor. In the first step, molybdopterin is adenylated. Subsequently, molybdate is inserted into adenylated molybdopterin and AMP is released.
- UniProtKB/Swiss-Prot CatalyticActivity:
- ATP + molybdopterin = diphosphate + adenylyl-molybdopterin.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Adenylyl-molybdopterin + molybdate = molybdenum cofactor + AMP.
- UniProtKB/Swiss-Prot EnzymeRegulation:
- Inhibited by copper and tungsten.
Phenotypes From GWAS Catalog for GPHN Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003824 | catalytic activity | IEA | -- |
| GO:0005515 | protein binding | IPI | 21094642 |
| GO:0005524 | ATP binding | IEA | -- |
| GO:0008940 | nitrate reductase activity | IMP | 9990024 |
| GO:0016740 | transferase activity | IEA | -- |
Phenotypes for GPHN Gene
- MGI mutant phenotypes for GPHN:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for GPHN:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for GPHN
-
CRISPR Products
-
OriGene CRISPR knockouts for GPHN
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for GPHN
- genomics-online: gRNA clones - Search results for 116 available Gephyrin gene related products
- Overview of 116 available Gephyrin gene related products
- Applied Biological Materials CRISPR for GPHN
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for GPHN
- GenScript: Design CRISPR guide RNA sequences for GPHN
miRNA for GPHN Gene
- miRTarBase miRNAs that target GPHN
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for GPHN
- Browse OriGene Inhibitory RNA Products For GPHN
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GPHN
- genomics-online: shRNA clones - Search results for 116 available Gephyrin gene related products
- Overview of 116 available Gephyrin gene related products
Clone Products
-
GenScript: Next-day shipping of latest version cDNA ORF clones for GPHN in any vector
- NM_020806.4
- XM_005267254.3
- XM_011536340.2
- XM_011536343.2
- XM_011536342.2
- XM_011536346.2
- XM_011536344.2
- XM_011536345.2
- XM_011536347.2
- XM_017020919.1
- XM_017020920.1
- XM_017020921.1
- XM_017020923.1
- XM_017020917.1
- XM_017020913.1
- XM_017020915.1
- XM_017020916.1
- XM_017020924.1
- XM_017020926.1
- XM_017020918.1
- XM_017020914.1
- NM_001024218.1
- XM_017020925.1
- XM_017020922.1
- Sino Biological Human cDNA Clone for GPHN
- Addgene plasmids for GPHN
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for GPHN
- Applied Biological Materials Clones for GPHN
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for GPHN
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for GPHN Gene
Localization for GPHN Gene
Subcellular locations from UniProtKB/Swiss-Prot for GPHN Gene
- Cell junction, synapse. Cell junction, synapse, postsynaptic cell membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm, cytoskeleton. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Cell projection, dendrite. Note=Cytoplasmic face of glycinergic postsynaptic membranes. {ECO:0000250 UniProtKB:Q03555}.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| cytoskeleton | 4 |
| cytosol | 3 |
| nucleus | 2 |
| extracellular | 1 |
- Cytoplasmic bodies (1)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IBA | -- |
| GO:0005856 | cytoskeleton | IEA | -- |
| GO:0005886 | plasma membrane | TAS | -- |
| GO:0016020 | membrane | IEA | -- |
| GO:0030054 | cell junction | IEA | -- |
Pathways & Interactions for GPHN Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Metabolism of water-soluble vitamins and cofactors | ||
| 2 | Metabolism |
.37
|
|
| 3 | Folate biosynthesis | ||
| 4 | GABAergic synapse | ||
| 5 | Neuroscience | ||
Pathways by source for GPHN Gene
1 BioSystems pathway for GPHN Gene
4 Reactome pathways for GPHN Gene
3 KEGG pathways for GPHN Gene
1 Cell Signaling Technology pathway for GPHN Gene
UniProtKB/Swiss-Prot Q9NQX3-GEPH_HUMAN
- Pathway: Cofactor biosynthesis; molybdopterin biosynthesis.
Interacting Proteins for GPHN Gene
Selected Interacting proteins:
Q9NQX3-GEPH_HUMAN
ENSP00000417901
for GPHN Gene via
UniProtKB
STRING
IID
MINT
GPS-Prot Interaction Network for GPHN
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006777 | Mo-molybdopterin cofactor biosynthetic process | IBA,IEA | -- |
| GO:0007529 | establishment of synaptic specificity at neuromuscular junction | IBA | -- |
| GO:0008152 | metabolic process | IEA | -- |
| GO:0010038 | response to metal ion | IMP | 9990024 |
| GO:0018315 | molybdenum incorporation into molybdenum-molybdopterin complex | IBA | -- |
Drugs & Compounds for GPHN Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| propanoic acid | Approved, Vet_approved | Pharma | Full agonist, Agonist, Target | 0 | ||
| Molybdenum | Approved | Pharma | 31 | |||
| Formic acid | Approved, Experimental, Investigational | Pharma | Target | 0 | ||
| Copper | Approved, Investigational | Pharma | 202 | |||
| Adenosine monophosphate | Approved, Investigational | Nutra | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| Adenylyl-molybdopterin |
|
|
||||
| molybdate |
|
|
||||
| pyrophosphate |
|
14000-31-8 |
|
|||
| Tungsten |
|
7440-33-7 |
|
|
Drug Products
Transcripts for GPHN Gene
mRNA/cDNA for GPHN Gene
- (24) REFSEQ mRNAs :
- (9) Additional mRNA sequences :
- (88) Selected AceView cDNA sequences:
- (16) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000315266 4193 bps (uc001xiy.4)
- ENST00000478722 4297 bps (uc001xix.4)
- ENST00000459628 1723 bps (uc001xiw.4)
- ENST00000543237 2459 bps (uc010tss.3)
- ENST00000555668 550 bps (uc059cnl.1)
CRISPR Products
-
OriGene CRISPR knockouts for GPHN
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for GPHN
- genomics-online: gRNA clones - Search results for 116 available Gephyrin gene related products
- Overview of 116 available Gephyrin gene related products
- Applied Biological Materials CRISPR for GPHN
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for GPHN
- GenScript: Design CRISPR guide RNA sequences for GPHN
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for GPHN
- Browse OriGene Inhibitory RNA Products For GPHN
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GPHN
- genomics-online: shRNA clones - Search results for 116 available Gephyrin gene related products
- Overview of 116 available Gephyrin gene related products
Clone Products
-
GenScript: Next-day shipping of latest version cDNA ORF clones for GPHN in any vector
- NM_020806.4
- XM_005267254.3
- XM_011536340.2
- XM_011536343.2
- XM_011536342.2
- XM_011536346.2
- XM_011536344.2
- XM_011536345.2
- XM_011536347.2
- XM_017020919.1
- XM_017020920.1
- XM_017020921.1
- XM_017020923.1
- XM_017020917.1
- XM_017020913.1
- XM_017020915.1
- XM_017020916.1
- XM_017020924.1
- XM_017020926.1
- XM_017020918.1
- XM_017020914.1
- NM_001024218.1
- XM_017020925.1
- XM_017020922.1
- Sino Biological Human cDNA Clone for GPHN
- Addgene plasmids for GPHN
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for GPHN
- Applied Biological Materials Clones for GPHN
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19a | · | 19b | ^ | 20 | ^ | 21 | ^ | 22 | ^ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP4: |
| ExUns: | 23 | ^ | 24 |
|---|---|---|---|
| SP1: | |||
| SP2: | |||
| SP3: | |||
| SP4: |
Expression for GPHN Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
This gene is overexpressed in Brain (11.1), Fetal Brain (9.2), and Frontal cortex (7.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GPHN Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of GPHN Gene:
GPHNSOURCE GeneReport for Unigene cluster for GPHN Gene:
Hs.208765Evidence on tissue expression from TISSUES for GPHN Gene
- Nervous system(4.9)
- Kidney(4.4)
- Liver(4.3)
- Eye(2.3)
Phenotype-based relationships between genes and organs from Gene ORGANizer for GPHN Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- nervous
- reproductive
- respiratory
- skeletal muscle
- skeleton
Regions:
Head and neck:
- brain
- cerebellum
- cranial nerve
- ear
- epiglottis
- eye
- head
- mouth
- neck
- pharynx
Thorax:
- bronchus
- chest wall
- heart
- lung
- trachea
Abdomen:
- abdominal wall
- intestine
Pelvis:
- pelvis
Limb:
- ankle
- digit
- elbow
- femur
- finger
- foot
- hand
- hip
- knee
- lower limb
- shoulder
- thigh
- toe
- upper limb
- wrist
General:
- blood vessel
- peripheral nervous system
- spinal cord
Primer Products
-
OriGene qPCR primer pairs for GPHN
-
OriGene qPCR primer pairs and template standards for GPHN
Gene Expression Assay Products
No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for GPHN Gene
Orthologs for GPHN Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | GPHN 34 33 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | GPHN 34 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | GPHN 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | GPHN 34 33 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Gphn 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Gphn 16 34 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | GPHN 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | GPHN 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | GPHN 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | gphn 33 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.29239 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | gphnb 34 33 |
|
OneToOne | |
| wufj59a01 33 |
|
||||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.12530 33 |
|
||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP002800 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | cin 34 35 33 |
|
OneToOne | |
| worm (Caenorhabditis elegans) |
Secernentea | moc-2 34 35 |
|
OneToMany | |
| moc-1 34 |
|
OneToMany | |||
| lin-46 34 |
|
OneToMany | |||
| barley (Hordeum vulgare) |
Liliopsida | Hv.12358 33 |
|
||
| bread mold (Neurospora crassa) |
Ascomycetes | NCU09746 33 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
OneToMany | |
| -- 34 |
|
OneToMany |
- Species where no ortholog for GPHN was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- beta proteobacteria (Neisseria meningitidis)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
Evolution for GPHN Gene
- ENSEMBL:
- Gene Tree for GPHN (if available)
- TreeFam:
- Gene Tree for GPHN (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for GPHN: view image
Paralogs for GPHN Gene
(2) SIMAP similar genes for GPHN Gene using alignment to 10 proteins:
- GEPH_HUMAN
- F5H039_HUMAN
- F8W7D6_HUMAN
- G3V355_HUMAN
- G3V4D2_HUMAN
- G3V4R0_HUMAN
- G3V582_HUMAN
- H0YIY4_HUMAN
- H0YJ30_HUMAN
- H0YJR5_HUMAN
Pseudogenes.org Pseudogenes for GPHN Gene
No data available for Paralogs for GPHN Gene
Variants for GPHN Gene
| SNP ID | Clin | Chr 14 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1002595925 | uncertain-significance, Retinitis Pigmentosa, Recessive | 67,734,282(+) | A/T | genic_downstream_transcript_variant, intron_variant | |
| rs104894470 | pathogenic, Leber congenital amaurosis 13 | 67,727,097(+) | C/T | genic_downstream_transcript_variant, intron_variant | |
| rs104894471 | pathogenic, Leber congenital amaurosis 13 | 67,724,588(+) | C/T | genic_downstream_transcript_variant, intron_variant | |
| rs104894472 | pathogenic, Leber congenital amaurosis 13 | 67,727,055(+) | T/C | genic_downstream_transcript_variant, intron_variant | |
| rs104894473 | pathogenic, Leber congenital amaurosis 13 | 67,724,556(+) | T/A | genic_downstream_transcript_variant, intron_variant |
Residual Variation Intolerance Score:
7.36% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.87;
18.20% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for GPHN Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GPHN Gene
Disorders for GPHN Gene
(13) MalaCards diseases for GPHN Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| molybdenum cofactor deficiency, complementation group c |
|
|
| hyperekplexia |
|
|
| molybdenum cofactor deficiency |
|
|
| stiff-person syndrome |
|
|
| leber congenital amaurosis 13 |
|
|
Search GPHN in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
GEPH_HUMAN- Molybdenum cofactor deficiency, complementation group C (MOCODC) [MIM:615501]: A form of molybdenum cofactor deficiency, an autosomal recessive metabolic disorder leading to the pleiotropic loss of molybdoenzyme activities. It is clinically characterized by onset in infancy of poor feeding, intractable seizures, severe psychomotor retardation, and death in early childhood in most patients. {ECO:0000269 PubMed:11095995, ECO:0000269 PubMed:22040219, ECO:0000269 PubMed:26613940}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for GPHN
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for GPHN Gene
Publications for GPHN Gene
- Gephyrin: where do we stand, where do we go? (PMID: 18403029) Fritschy JM … Schwarz G (Trends in neurosciences 2008) 2 3 22 58
- Isoform heterogeneity of the human gephyrin gene (GPHN), binding domains to the glycine receptor, and mutation analysis in hyperekplexia. (PMID: 12684523) Rees MI … Snell RG (The Journal of biological chemistry 2003) 3 4 22 58
- Crystal structures of human gephyrin and plant Cnx1 G domains: comparative analysis and functional implications. (PMID: 11554796) Schwarz G … Schindelin H (Journal of molecular biology 2001) 3 4 22 58
- The human gephyrin (GPHN) gene: structure, chromosome localization and expression in non-neuronal cells. (PMID: 11418245) David-Watine B (Gene 2001) 3 4 22 58
- A mutation in the gene for the neurotransmitter receptor-clustering protein gephyrin causes a novel form of molybdenum cofactor deficiency. (PMID: 11095995) Reiss J … Schwarz G (American journal of human genetics 2001) 3 4 22 58
Products for GPHN Gene
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Sources for GPHN Gene
- (1) GeneCards
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