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Cancer Genome Characterization Initiative

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Gene Info

Gene Information For:Hs. GPHN, gephyrin
Sequence ID:NM_001024218
NM_020806
RefSeqGene ID:NG_008875
Entrez Gene ID:10243
Ensembl ID:ENSG00000171723

Database Links

UniGeneEntrez GeneOMIMEnsembl GeneHPRDVegaSNPSNP: GeneViewSNP: VarViewAssembliesCancer AberrationsRNAi

Gene Expression Data


Associated Diseases (from OMIM)

DiseaseOther Genes
HYPEREKPLEXIA, HEREDITARY 1, AUTOSOMAL DOMINANT OR RECESSIVEGLRA1
GLRB
SLC6A5
MOLYBDENUM COFACTOR DEFICIENCY, TYPE AMOCS1
MOCS1
MOCS2

Cytogenetic Location (from UniGene)

Cytogenetic Location:14q23.3Mitelman Breakpoint Data

Chromosomal Position (from UCSC)

Chromosomal Position:14: 66974124 - 67648515

 Exon Info From UCSC:
NM_001024218
NM_020806

Full-Length MGC Clones for This Gene

IMAGE IdStatusAccession GenBank Def Line
4826821Full LengthBC030016gephyrin

Protein Similarities Based on Shared Motif Content

Find gene products sharing protein motifs with:  NP_001019389  NP_065857  

Protein Infomation

RefSeq
mRNAProteinSwissProtEnzymePfam
NM_001024218 NP_001019389 Q9NQX3 EC 2.10.1.1
EC 2.7.7.75
MoCF_biosynth
MoeA_N
MoeA_C
NM_020806 NP_065857     MoCF_biosynth
MoeA_N
MoeA_C

Related Sequences

 
mRNAGenPeptSwissProtEnzyme
AF272663 AAF81785 Q9NQX3 EC 2.10.1.1
EC 2.7.7.75
BC030016 AAH30016 Q9NQX3 EC 2.10.1.1
EC 2.7.7.75
DQ892463 ABM83389    
DQ895675 ABM86601    
AB037806 BAA92623 Q9NQX3 EC 2.10.1.1
EC 2.7.7.75
AK315569 BAG37944 B2RDJ7  
AK294532 BAH11801 B7Z2B5  
AK295577 BAH12110 B7Z374  
AK297447 BAH12583 B7Z4J7  
AJ272343 CAC10537 Q9NQX3 EC 2.10.1.1
EC 2.7.7.75
AJ272033 CAC81240 Q96KU4  

Homologs (from HomoloGene)
Note: Both orthologs and paralogs are included.
Organism Symbol Protein Homolog Similarity
(% aa unchanged)
Organism Symbol Entrez
Gene
Gene Info Protein
H.sapiens GPHN NP_065857 M.musculus Gphn 268566 Gene Info NP_766540 100
R.norvegicus Gphn 64845   NP_074056 100
N.crassa NCU09746 3880588   XP_964448 45
A.gambiae AgaP_AGAP002800 1273162   XP_312114 44
C.elegans moc-1 181225   NP_509700 41
D.melanogaster cin 30973   NP_477030 35
D.melanogaster CG42376 7354420   NP_726659 35

Gene Ontology
Gene classification by the European Bioinformatics Institute, as recorded in GOA (GO Annotation@EBI)

BioCarta Pathways
Pathway information courtesy of BioCarta