GPHN Gene
protein-coding GIFtS: 66
GCID: GC14P066974
|
|
gephyrin
| |
Aliases
for GPHN gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Gephyrin1 | | KIAA13851 3 5 | | GPH2 3 5 | | GEPH2 5 | | GPHRYN2 | | HKPX12 |
Export aliases for GPHN gene to outside databasesPrevious GC identifers: GC14P064480 GC14P060767 GC14P064964 GC14P066043 GC14P047144 |
Summaries
for GPHN gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for GPHN:
This gene encodes a neuronal assembly protein that anchors inhibitory neurotransmitter receptors to the postsynapticcytoskeleton via high affinity binding to a receptor subunit domain and tubulin dimers. In nonneuronal tissues, theencoded protein is also required for molybdenum cofactor biosynthesis. Mutations in this gene may be associated withthe neurological condition hyperplexia and also lead to molybdenum cofactor deficiency. Numerous alternatively splicedtranscript variants encoding different isoforms have been described; however, the full-length nature of all transcriptvariants is not currently known. (provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: GEPH_HUMAN, Q9NQX3Function: Microtubule-associated protein involved in membrane protein-cytoskeleton interactions. It is thought toanchor the inhibitory glycine receptor (GLYR) to subsynaptic microtubules (By similarity). Catalyzes two steps in thebiosynthesis of the molybdenum cofactor. In the first step, molybdopterin is adenylated. Subsequently, molybdate isinserted into adenylated molybdopterin and AMP is released
Gene Wiki entry for GPHN
|
Genomic Views
for GPHN gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000014.8 NC_018925.1 NT_026437.12
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the GPHN gene promoter:
HFH-3 AML1a ATF-2 CUTL1 Ik-3 FOXI1 c-Rel Nkx6-1 Pax-4a
Other transcription factors
Search SABiosciences Chromatin IP Primers for GPHN
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GPHN |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 14q23.3 Ensembl cytogenetic band: 14q23.3 HGNC cytogenetic band: 14q23.3GPHN Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 14 GeneLoc Exon Structure GeneLoc location for GC14P066974: view genomic region
(about GC identifiers)
Start:
|
66,974,125 bp from pter |
End:
|
67,648,525 bp from pter |
Size:
|
674,401 bases |
Orientation:
|
plus strand |
|
Proteins
for GPHN gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: GEPH_HUMAN, Q9NQX3 (See
protein sequence)Recommended Name: Gephyrin Size: 736 amino acids; 79748 Da
Cofactor: Magnesium (By similarity)
Subunit: Homotrimer. Interacts with GABARAP (By similarity). Interacts with SRGAP2 (via SH3 domain) (By similarity)
Subcellular location: Cell junction, synapse (By similarity). Cell junction, synapse, postsynaptic cell membrane;Peripheral membrane protein; Cytoplasmic side (By similarity). Cytoplasm, cytoskeleton (By similarity).Note=Cytoplasmic face of glycinergic postsynaptic membranes (By similarity)
Sequence caution: Sequence=BAA92623.1; Type=Erroneous initiation;
1 PDB 3D structure from  and Proteopedia  for GPHN:1JLJ (3D)
Secondary accessions: Q9H4E9 Q9P2G2Alternative splicing: 2 isoforms: Q9NQX3-1 Q9NQX3-2 Explore the universe of human proteins at neXtProt for GPHN: NX_Q9NQX3
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9NQX3
GPHN Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_001019389.1 NP_065857.1
ENSEMBL proteins: ENSP00000312771 ENSP00000417901 ENSP00000452220 ENSP00000438404 ENSP00000451935 ENSP00000451056 ENSP00000451790 ENSP00000451725 ENSP00000450706 ENSP00000452009 ENSP00000450442 ENSP00000303019 Reactome Protein details: Q9NQX3
Human Recombinant Protein Products:
Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6): About this table
GPHN for ontologies About GeneDecksing
GPHN Antibody Products:
Assay Products for GPHN: |
Protein
Domains /
Families
for GPHN gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
GPHN for domains About GeneDecksing
5 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q9NQX3ProtoNet protein and cluster: Q9NQX3 2 Blocks protein families: IPB001453 Molybdenum cofactor biosynthesis protein IPB008284 Molybdenum cofactor biosynthesis protein
UniProtKB/Swiss-Prot: GEPH_HUMAN, Q9NQX3Similarity: In the N-terminal section; belongs to the MoaB/Mog familySimilarity: In the C-terminal section; belongs to the MoeA family |
Function
for GPHN gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: GEPH_HUMAN, Q9NQX3Function: Microtubule-associated protein involved in membrane protein-cytoskeleton interactions. It is thought toanchor the inhibitory glycine receptor (GLYR) to subsynaptic microtubules (By similarity). Catalyzes two steps in thebiosynthesis of the molybdenum cofactor. In the first step, molybdopterin is adenylated. Subsequently, molybdate isinserted into adenylated molybdopterin and AMP is releasedCatalytic activity: ATP + molybdopterin = diphosphate + adenylyl-molybdopterinCatalytic activity: Adenylyl-molybdopterin + molybdate = molybdenum cofactor + AMPEnzyme regulation: Inhibited by copper and tungsten (By similarity)
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for GPHN (see all 5)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for GPHN (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 2): GPHN (NM_020806) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for GPHN | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GPHN |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GPHN |
Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table
GPHN for ontologies About GeneDecksing
Animal Models:
Mouse knock-out Gphntm1Jrs for GPHN
7 MGI mutant phenotypes (inferred from 2 alleles ) (MGI details for Gphn):
GPHN for phenotypes About GeneDecksing
|
Pathways & Interactions
for GPHN gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Molybdenum cofactor biosynthesis | | | 2 | Vitamin B5 (pantothenate) metabolism | | | 3 | Metabolism | |
Pathway sources
See GeneCards unified pathways
Show all pathways
1  BioSystems Pathway for GPHN
4 
Reactome Pathways for GPHN
UniProtKB/Swiss-Prot: GEPH_HUMAN, Q9NQX3Pathway: Cofactor biosynthesis; molybdopterin biosynthesis
GPHN for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for GPHN
STRING Interaction
Network Preview (showing 5 interactants - click image to see 22)
5/25 Interacting proteins for GPHN (Q9NQX32, 3 ENSP000003030194) via UniProtKB, MINT, STRING, and/or I2D (see all 25)
About this table
Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0006766 | vitamin metabolic process |
TAS | -- | | GO:0006767 | water-soluble vitamin metabolic process |
TAS | -- | | GO:0006777 | Mo-molybdopterin cofactor biosynthetic process |
IEA | -- | | GO:0007529 | establishment of synaptic specificity at neuromuscular junction |
IEA | -- | | GO:0032324 | molybdopterin cofactor biosynthetic process |
TAS | -- |
GPHN for ontologies About GeneDecksing
|
Drugs & Compounds
for GPHN gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
GPHN for compounds About GeneDecksing
 Browse Tocris compounds for GPHN
4 HMDB Compounds for GPHN About this table
2 DrugBank Compounds for GPHN About this table
10 Novoseek chemical compound relationships for GPHN gene About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| moco |
85.6 |
16 |
11095995 (4), 18411266 (4), 11418245 (2), 17374639 (1) (see all 6) |
| molybdopterin |
76.7 |
4 |
15159566 (2), 11095995 (1), 11554796 (1) |
| molybdenum |
75.4 |
18 |
11095995 (2), 18411266 (2), 14976213 (1), 15159566 (1) (see all 14) |
| gaba |
66.2 |
38 |
7642803 (6), 11840480 (3), 19950251 (2), 17916433 (2) (see all 17) |
| pterin |
56.4 |
2 |
15159566 (1), 12754701 (1) |
| strychnine |
41.9 |
5 |
9427682 (3), 9605343 (1) |
| glutamate |
34.8 |
3 |
15739236 (1), 20206270 (1), 15651297 (1) |
| nmda |
23.6 |
6 |
10051776 (2), 20371221 (1), 16757119 (1) |
| xanthine |
20.4 |
1 |
18411266 (1) |
| potassium |
0 |
1 |
16641238 (1) |
Search CenterWatch for drugs/clinical trials and news about GPHN / GEPH
|
Transcripts
for GPHN gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for GPHN gene (2 alternative transcripts): NM_001024218.1 NM_020806.4 Unigene Cluster for GPHN: Gephyrin Hs.208765 [show with all ESTs]Unigene Representative Sequence: NM_02080617 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000315266 ENST00000478722(uc001xiw.3 uc001xix.3 uc001xiy.3 uc010tss.2 uc010tst.2 uc010tsu.2)
ENST00000459628 ENST00000543237 ENST00000555668 ENST00000556633 ENST00000557654
ENST00000553936 ENST00000556020 ENST00000544752 ENST00000555456 ENST00000556501
ENST00000555527 ENST00000555503 ENST00000557678 ENST00000556240 ENST00000305960
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for GPHN (see all 5)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for GPHN (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 2): GPHN (NM_020806) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for GPHN | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GPHN |
Additional cDNA sequence: AB037806.1 AF272663.1 AJ272033.1 AJ272343.1 AK294532.1 AK295577.1 AK297447.1 AK315569.1 BC030016.2 10 DOTS entries: DT.446235 DT.95102577 DT.97842072 DT.91679002 DT.100783683 DT.100783684 DT.95258497 DT.95337558 DT.75140894 DT.91679001 24/41 AceView cDNA sequences (see all 41): BM804725 CA391877 AV727250 BQ051395 AI124781 F05501 AL698169 AA308742 AK025169 AA325690 BG432181 BX430007 AI904285 AW076099 BX430006 BX477325 AA315242 BG746440 BX423199 BX486765 BX486520 BX432896 AW961014 H29661
GeneLoc Exon Structure
4 Alternative Splicing Database (ASD) splice patterns (SP) for GPHN About this scheme
| 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: | | | | |
ECgene alternative splicing isoforms for GPHN
|
Expression
for GPHN gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| GPHN expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TGGAAATCAA
About this image
See GPHN Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for GPHN
SOURCE GeneReport for Unigene cluster: Hs.208765
SABiosciences Expression via Pathway-Focused PCR Array including GPHN:
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for GPHN
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat GPHN | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat GPHN | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GPHN | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GPHN |
Orthologs
for GPHN gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the last universal common ancestor (LUCA).
Orthologs for GPHN gene from 10/33 species (see all 33) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
mouse
(Mus musculus) |
Mammalia |
Gphn1 , 5 |
gephyrin1, 5 |
94.38(n)1
99.86(a)1 |
|
12 (35.51 cM)5
2685661 NM_172952.31 NP_766540.21
782266555 |
chicken
(Gallus gallus) |
Aves |
GPHN1 |
gephyrin |
88.18(n)
98.51(a) |
|
428878 NM_001031549.1 NP_001026720.1 |
lizard
(Anolis carolinensis) |
Reptilia |
GPHN6 |
-- |
97(a) |
1 ↔ 1 |
GL343272.1(1378948-1531544) |
African clawed frog
(Xenopus laevis) |
Amphibia |
Xl.292392 |
Xenopus laevis transcribed sequence with strong similarity more |
85.44(n) |
|
CF519644.1 |
zebrafish
(Danio rerio) |
Actinopterygii |
wufj59a012 |
Transcribed sequences |
73.18(n) |
|
CK362372.1 |
fruit fly
(Drosophila melanogaster) |
Insecta |
cin3
CG423761 |
Mo-molybdopterin cofactor biosynthesis3
CG423761 |
33(a)3
44.24(n)1
35.38(a)1 |
|
1A13
73544201 NM_166835.21 NP_726659.11 |
worm
(Caenorhabditis elegans) |
Secernentea |
moc-23
moc-11 |
Protein MOC-11 |
44(a)3
48.56(n)1
40.68(a)1 |
|
V(6505041-6506739)3
1812251 NM_077299.31 NP_509700.21 |
thale cress
(Arabidopsis thaliana) |
eudicotyledons |
B736 |
Molybdopterin adenylyltransferase |
29(a) |
1 ↔ 1 |
5(7128475-7133476) |
rice
(Oryza sativa) |
Liliopsida |
-- |
molybdopterin biosynthesis protein CNX1, putative,... |
19(a) |
1 ↔ 1 |
4(33576258-33579456) |
E. coli
(Escherichia coli) |
Gamma proteobacteria |
moeA6 |
molybdopterin biosynthesis protein |
34(a) |
1 ↔ 1 |
Chromosome(864352-865587) |
ENSEMBL Gene Tree for GPHN (if available)
TreeFam Gene Tree for GPHN (if available) |
Paralogs
for GPHN gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for GPHN gene
2 SIMAP similar genes for GPHN using alignment to 10 protein entries: GEPH_HUMAN (see all proteins):GPHRYN NAA25
GPHN for paralogs About GeneDecksing
1 Pseudogenes.org Pseudogene for GPHN
PGOHUM00000248210
|
Genomic Variants
for GPHN gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 14 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for GPHN (66974125 - 67224125 bp, first 250kb of GPHN)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 4 variations for GPHN
3 CNVs: 101972 35259 8772
1 Inversion: 59720
Human Gene Mutation Database (HGMD): GPHN
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing GPHN |
|
Disorders
/ Diseases
for GPHN gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
GPHN for disorders About GeneDecksing
OMIM gene information: 603930
OMIM disorders: 252150 149400
UniProtKB/Swiss-Prot: GEPH_HUMAN, Q9NQX3
Defects in GPHN are the cause of molybdenum cofactor deficiency type C (MOCOD type C) [MIM:252150]. MOCOD typeC is an autosomal recessive disease which leads to the pleiotropic loss of all molybdoenzyme activities and ischaracterized by severe neurological damage, neonatal seizures and early childhood death
18  diseases for GPHN: About MalaCardsmolybdenum cofactor deficiency molybdenum cofactor deficiency, type c geniculate herpes zoster stiff-person syndrome
hyperekplexia herpes zoster startle disease autosomal recessive disease
anorexia nervosa intellectual disability neuronitis huntington's disease
alzheimer's disease leukemia cervicitis retinitis
tuberculosis mycobacterium tuberculosis
2 diseases from the University of Copenhagen DISEASES database for GPHN:Stiff-Person syndrome Geniculate herpes zoster 5 Novoseek disease relationships for GPHN gene About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| hyperekplexia |
87.2 |
5 |
12684523 (3), 16429380 (1) |
| molybdenum cofactor deficiency |
85.9 |
1 |
12684523 (1) |
| stiff-man syndrome |
59.1 |
2 |
10839351 (1), 15651297 (1) |
| leukemia |
0 |
1 |
11579461 (1) |
| autoimmunity |
0 |
1 |
10839351 (1) |
GeneTests: GPHN
Hyperekplexia
Human Genome Epidemiology (HuGE) Navigator: GPHN (9 documents)
Export disorders for GPHN gene to outside databases
|
Publications
for GPHN gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
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PubMed articles for GPHN gene, integrated from 9 sources (see all 160):
(articles sorted by number of sources associating them with GPHN) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Isoform heterogeneity of the human gephyrin gene (GPHN), binding domains to the glycine receptor, and mutation analysis in hyperekplexia. (PubMed id 12684523)1, 2, 9 Rees M.I.... Snell R.G. (2003)
- Gephyrin: where do we stand, where do we go? (PubMed id 18403029)1, 3, 9 Fritschy J.M....Schwarz G. (2008)
- The human gephyrin (GPHN) gene: structure, chromosome localization and expression in non-neuronal cells. (PubMed id 11418245)1, 2, 9 David-Watine B. (2001)
- A mutation in the gene for the neurotransmitter receptor-clustering protein gephyrin causes a novel form of molybdenum cofactor deficiency. (PubMed id 11095995)1, 2, 9 Reiss J....Schwarz G. (2001)
- Crystal structures of human gephyrin and plant Cnx1 G domains: comparative analysis and functional implications. (PubMed id 11554796)1, 2, 9 Schwarz G.... Schindelin H. (2001)
- Interaction of RAFT1 with gephyrin required for rapamycin-sensitive signaling. (PubMed id 10325225)1, 3, 9 Sabatini D.M....Snyder S.H. (1999)
- A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PubMed id 16964243)1, 2 Beausoleil S.A.... Gygi S.P. (2006)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10718198)1, 2 Nagase T.... Ohara O. (2000)
- Primary structure and alternative splice variants of gephyrin, a putative glycine receptor-tubulin linker protein. (PubMed id 1319186)1, 3 Prior P....Kirsch J. (1992)
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External Searches for GPHN gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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Genome Databases showing GPHN gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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Other Databases showing GPHN gene
(According to HUGE)
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Specialized Databases showing GPHN gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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| Name | Description |
| PharmGKB entry for GPHN | Pharmacogenomics, SNPs, Pathways | | ATLAS Chromosomes in Cancer entry for GPHN | Genetics and Cytogenetics in Oncology and Haematology | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GPHN |
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| Patent Information for GPHN gene:
Search GeneIP for patents involving GPHN
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products
for GPHN gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
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