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INVS (inversin)

Identity

Alias_namesNPHP2
nephronophthisis 2 (infantile)
Other aliasINV
NPH2
HGNC (Hugo) INVS
LocusID (NCBI) 27130
Atlas_Id 64634
Location 9q31.1  [Link to chromosome band 9q31]
Location_base_pair Starts at 102861502 and ends at 103063426 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
INVS (9q31.1) / TGFBR1 (9q22.33)STX17 (9q31.1) / INVS (9q31.1)

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)INVS   17870
Cards
Entrez_Gene (NCBI)INVS  27130  inversin
AliasesINV; NPH2; NPHP2
GeneCards (Weizmann)INVS
Ensembl hg19 (Hinxton)ENSG00000119509 [Gene_View]  chr9:102861502-103063426 [Contig_View]  INVS [Vega]
Ensembl hg38 (Hinxton)ENSG00000119509 [Gene_View]  chr9:102861502-103063426 [Contig_View]  INVS [Vega]
ICGC DataPortalENSG00000119509
TCGA cBioPortalINVS
AceView (NCBI)INVS
Genatlas (Paris)INVS
WikiGenes27130
SOURCE (Princeton)INVS
Genetics Home Reference (NIH)INVS
Genomic and cartography
GoldenPath hg19 (UCSC)INVS  -     chr9:102861502-103063426 +  9q31.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)INVS  -     9q31.1   [Description]    (hg38-Dec_2013)
EnsemblINVS - 9q31.1 [CytoView hg19]  INVS - 9q31.1 [CytoView hg38]
Mapping of homologs : NCBIINVS [Mapview hg19]  INVS [Mapview hg38]
OMIM243305   602088   
Gene and transcription
Genbank (Entrez)AF039217 AF084367 AI792224 AK304851 AK312795
RefSeq transcript (Entrez)NM_014425 NM_183245
RefSeq genomic (Entrez)NC_000009 NC_018920 NG_008316 NT_008470 NW_004929366
Consensus coding sequences : CCDS (NCBI)INVS
Cluster EST : UnigeneHs.655024 [ NCBI ]
CGAP (NCI)Hs.655024
Alternative Splicing GalleryENSG00000119509
Gene ExpressionINVS [ NCBI-GEO ]   INVS [ EBI - ARRAY_EXPRESS ]   INVS [ SEEK ]   INVS [ MEM ]
Gene Expression Viewer (FireBrowse)INVS [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)27130
GTEX Portal (Tissue expression)INVS
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y283   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9Y283  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y283
Splice isoforms : SwissVarQ9Y283
PhosPhoSitePlusQ9Y283
Domaine pattern : Prosite (Expaxy)ANK_REP_REGION (PS50297)    ANK_REPEAT (PS50088)    IQ (PS50096)   
Domains : Interpro (EBI)Ankyrin_rpt    Ankyrin_rpt-contain_dom    IQ_motif_EF-hand-BS   
Domain families : Pfam (Sanger)Ank (PF00023)    Ank_2 (PF12796)    IQ (PF00612)   
Domain families : Pfam (NCBI)pfam00023    pfam12796    pfam00612   
Domain families : Smart (EMBL)ANK (SM00248)  IQ (SM00015)  
Conserved Domain (NCBI)INVS
DMDM Disease mutations27130
Blocks (Seattle)INVS
SuperfamilyQ9Y283
Human Protein AtlasENSG00000119509
Peptide AtlasQ9Y283
HPRD08356
IPIIPI00034309   IPI00017764   IPI00478910   IPI00909268   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y283
IntAct (EBI)Q9Y283
FunCoupENSG00000119509
BioGRIDINVS
STRING (EMBL)INVS
ZODIACINVS
Ontologies - Pathways
QuickGOQ9Y283
Ontology : AmiGOkidney development  protein binding  calmodulin binding  nucleus  cytoplasm  spindle  microtubule  post-embryonic development  membrane  Wnt signaling pathway  pancreas development  embryonic heart tube left/right pattern formation  negative regulation of canonical Wnt signaling pathway  ciliary inversin compartment  ciliary base  
Ontology : EGO-EBIkidney development  protein binding  calmodulin binding  nucleus  cytoplasm  spindle  microtubule  post-embryonic development  membrane  Wnt signaling pathway  pancreas development  embryonic heart tube left/right pattern formation  negative regulation of canonical Wnt signaling pathway  ciliary inversin compartment  ciliary base  
NDEx NetworkINVS
Atlas of Cancer Signalling NetworkINVS
Wikipedia pathwaysINVS
Orthology - Evolution
OrthoDB27130
GeneTree (enSembl)ENSG00000119509
Phylogenetic Trees/Animal Genes : TreeFamINVS
HOVERGENQ9Y283
HOGENOMQ9Y283
Homologs : HomoloGeneINVS
Homology/Alignments : Family Browser (UCSC)INVS
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerINVS [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)INVS
dbVarINVS
ClinVarINVS
1000_GenomesINVS 
Exome Variant ServerINVS
ExAC (Exome Aggregation Consortium)INVS (select the gene name)
Genetic variants : HAPMAP27130
Genomic Variants (DGV)INVS [DGVbeta]
DECIPHER (Syndromes)9:102861502-103063426  ENSG00000119509
CONAN: Copy Number AnalysisINVS 
Mutations
ICGC Data PortalINVS 
TCGA Data PortalINVS 
Broad Tumor PortalINVS
OASIS PortalINVS [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICINVS  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDINVS
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)Eye diseases - LOVD
BioMutasearch INVS
DgiDB (Drug Gene Interaction Database)INVS
DoCM (Curated mutations)INVS (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)INVS (select a term)
intoGenINVS
Cancer3DINVS(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM243305    602088   
Orphanet2824    12426   
MedgenINVS
Genetic Testing Registry INVS
NextProtQ9Y283 [Medical]
TSGene27130
GENETestsINVS
Huge Navigator INVS [HugePedia]
snp3D : Map Gene to Disease27130
BioCentury BCIQINVS
ClinGenINVS
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD27130
Chemical/Pharm GKB GenePA38472
Clinical trialINVS
Miscellaneous
canSAR (ICR)INVS (select the gene name)
Probes
Litterature
PubMed29 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineINVS
EVEXINVS
GoPubMedINVS
iHOPINVS
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 12:08:55 CET 2017

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