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GIPC3 (GIPC PDZ domain containing family member 3)

Identity

Alias_namesC19orf64
DFNB72
DFNB15
chromosome 19 open reading frame 64
deafness, autosomal recessive 72
deafness, autosomal recessive 15
GIPC PDZ domain containing family, member 3
Alias_symbol (synonym)DFNB95
Other alias
HGNC (Hugo) GIPC3
LocusID (NCBI) 126326
Atlas_Id 63792
Location 19p13.3  [Link to chromosome band 19p13]
Location_base_pair Starts at 3585571 and ends at 3593541 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
GIPC3 (19p13.3) / GIPC3 (19p13.3)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)GIPC3   18183
Cards
Entrez_Gene (NCBI)GIPC3  126326  GIPC PDZ domain containing family member 3
AliasesC19orf64; DFNB15; DFNB72; DFNB95
GeneCards (Weizmann)GIPC3
Ensembl hg19 (Hinxton)ENSG00000179855 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000179855 [Gene_View]  chr19:3585571-3593541 [Contig_View]  GIPC3 [Vega]
ICGC DataPortalENSG00000179855
TCGA cBioPortalGIPC3
AceView (NCBI)GIPC3
Genatlas (Paris)GIPC3
WikiGenes126326
SOURCE (Princeton)GIPC3
Genetics Home Reference (NIH)GIPC3
Genomic and cartography
GoldenPath hg38 (UCSC)GIPC3  -     chr19:3585571-3593541 +  19p13.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)GIPC3  -     19p13.3   [Description]    (hg19-Feb_2009)
EnsemblGIPC3 - 19p13.3 [CytoView hg19]  GIPC3 - 19p13.3 [CytoView hg38]
Mapping of homologs : NCBIGIPC3 [Mapview hg19]  GIPC3 [Mapview hg38]
OMIM601869   608792   
Gene and transcription
Genbank (Entrez)AB073738 AK098244 BC117312 BC117314 BX648927
RefSeq transcript (Entrez)NM_133261
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)GIPC3
Cluster EST : UnigeneHs.266873 [ NCBI ]
CGAP (NCI)Hs.266873
Alternative Splicing GalleryENSG00000179855
Gene ExpressionGIPC3 [ NCBI-GEO ]   GIPC3 [ EBI - ARRAY_EXPRESS ]   GIPC3 [ SEEK ]   GIPC3 [ MEM ]
Gene Expression Viewer (FireBrowse)GIPC3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)126326
GTEX Portal (Tissue expression)GIPC3
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8TF64   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8TF64  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8TF64
Splice isoforms : SwissVarQ8TF64
PhosPhoSitePlusQ8TF64
Domaine pattern : Prosite (Expaxy)PDZ (PS50106)   
Domains : Interpro (EBI)GIPC1/2/3    PDZ   
Domain families : Pfam (Sanger)PDZ (PF00595)   
Domain families : Pfam (NCBI)pfam00595   
Domain families : Smart (EMBL)PDZ (SM00228)  
Conserved Domain (NCBI)GIPC3
DMDM Disease mutations126326
Blocks (Seattle)GIPC3
SuperfamilyQ8TF64
Human Protein AtlasENSG00000179855
Peptide AtlasQ8TF64
HPRD16386
IPIIPI00307688   
Protein Interaction databases
DIP (DOE-UCLA)Q8TF64
IntAct (EBI)Q8TF64
FunCoupENSG00000179855
BioGRIDGIPC3
STRING (EMBL)GIPC3
ZODIACGIPC3
Ontologies - Pathways
QuickGOQ8TF64
Ontology : AmiGO
Ontology : EGO-EBI
NDEx NetworkGIPC3
Atlas of Cancer Signalling NetworkGIPC3
Wikipedia pathwaysGIPC3
Orthology - Evolution
OrthoDB126326
GeneTree (enSembl)ENSG00000179855
Phylogenetic Trees/Animal Genes : TreeFamGIPC3
HOVERGENQ8TF64
HOGENOMQ8TF64
Homologs : HomoloGeneGIPC3
Homology/Alignments : Family Browser (UCSC)GIPC3
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGIPC3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GIPC3
dbVarGIPC3
ClinVarGIPC3
1000_GenomesGIPC3 
Exome Variant ServerGIPC3
ExAC (Exome Aggregation Consortium)GIPC3 (select the gene name)
Genetic variants : HAPMAP126326
Genomic Variants (DGV)GIPC3 [DGVbeta]
DECIPHERGIPC3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisGIPC3 
Mutations
ICGC Data PortalGIPC3 
TCGA Data PortalGIPC3 
Broad Tumor PortalGIPC3
OASIS PortalGIPC3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGIPC3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDGIPC3
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch GIPC3
DgiDB (Drug Gene Interaction Database)GIPC3
DoCM (Curated mutations)GIPC3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GIPC3 (select a term)
intoGenGIPC3
Cancer3DGIPC3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601869    608792   
Orphanet12047   
MedgenGIPC3
Genetic Testing Registry GIPC3
NextProtQ8TF64 [Medical]
TSGene126326
GENETestsGIPC3
Target ValidationGIPC3
Huge Navigator GIPC3 [HugePedia]
snp3D : Map Gene to Disease126326
BioCentury BCIQGIPC3
ClinGenGIPC3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD126326
Chemical/Pharm GKB GenePA142671736
Clinical trialGIPC3
Miscellaneous
canSAR (ICR)GIPC3 (select the gene name)
Probes
Litterature
PubMed16 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGIPC3
EVEXGIPC3
GoPubMedGIPC3
iHOPGIPC3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 13:09:23 CEST 2017

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