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ITPRID2 (ITPR interacting domain containing 2)

Identity

Alias_namesSSFA2
sperm specific antigen 2
Alias_symbol (synonym)CS-1
SPAG13
KRAP
KIAA1927
Other aliasCS1
HGNC (Hugo) ITPRID2
LocusID (NCBI) 6744
Atlas_Id 57506
Location 2q31.3  [Link to chromosome band 2q31]
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
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


External links

Nomenclature
HGNC (Hugo)ITPRID2   11319
Cards
Entrez_Gene (NCBI)ITPRID2  6744  ITPR interacting domain containing 2
AliasesCS-1; CS1; KRAP; SPAG13; 
SSFA2
GeneCards (Weizmann)ITPRID2
Ensembl hg19 (Hinxton)ENSG00000138434 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000138434 [Gene_View]  ENSG00000138434 [Sequence]  - [Contig_View]  ITPRID2 [Vega]
ICGC DataPortalENSG00000138434
TCGA cBioPortalITPRID2
AceView (NCBI)ITPRID2
Genatlas (Paris)ITPRID2
WikiGenes6744
SOURCE (Princeton)ITPRID2
Genetics Home Reference (NIH)ITPRID2
Genomic and cartography
GoldenPath hg38 (UCSC)ITPRID2  -  
GoldenPath hg19 (UCSC)ITPRID2  -  
GoldenPathITPRID2 - [CytoView hg19]  ITPRID2 - [CytoView hg38]
ImmunoBaseENSG00000138434
Mapping of homologs : NCBIITPRID2 [Mapview hg19]  ITPRID2 [Mapview hg38]
OMIM118990   
Gene and transcription
Genbank (Entrez)AB067514 AB116937 AK091197 AK093143 AK097375
RefSeq transcript (Entrez)NM_001130445 NM_001287503 NM_001287504 NM_001287505 NM_006751
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ITPRID2
Cluster EST : UnigeneHs.196983 [ NCBI ]
CGAP (NCI)Hs.196983
Alternative Splicing GalleryENSG00000138434
Gene ExpressionITPRID2 [ NCBI-GEO ]   ITPRID2 [ EBI - ARRAY_EXPRESS ]   ITPRID2 [ SEEK ]   ITPRID2 [ MEM ]
Gene Expression Viewer (FireBrowse)ITPRID2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6744
GTEX Portal (Tissue expression)ITPRID2
Human Protein AtlasENSG00000138434-ITPRID2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP28290   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP28290  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP28290
Splice isoforms : SwissVarP28290
PhosPhoSitePlusP28290
Domains : Interpro (EBI)KRAP_ITPR-bd    SSFA2    SSFA2_C   
Domain families : Pfam (Sanger)KRAP_IP3R_bind (PF14722)    SSFA2_C (PF14723)   
Domain families : Pfam (NCBI)pfam14722    pfam14723   
Domain families : Smart (EMBL)KRAP_IP3R_bind (SM01257)  
Conserved Domain (NCBI)ITPRID2
DMDM Disease mutations6744
Blocks (Seattle)ITPRID2
SuperfamilyP28290
Human Protein Atlas [tissue]ENSG00000138434-ITPRID2 [tissue]
Peptide AtlasP28290
IPIIPI00400812   IPI00830086   IPI00386170   IPI00908471   IPI00918003   IPI00917860   IPI01010373   IPI00916035   IPI00917618   
Protein Interaction databases
DIP (DOE-UCLA)P28290
IntAct (EBI)P28290
FunCoupENSG00000138434
BioGRIDITPRID2
STRING (EMBL)ITPRID2
ZODIACITPRID2
Ontologies - Pathways
QuickGOP28290
Ontology : AmiGOsignaling receptor binding  nucleus  cytosol  plasma membrane  actin filament binding  
Ontology : EGO-EBIsignaling receptor binding  nucleus  cytosol  plasma membrane  actin filament binding  
NDEx NetworkITPRID2
Atlas of Cancer Signalling NetworkITPRID2
Wikipedia pathwaysITPRID2
Orthology - Evolution
OrthoDB6744
GeneTree (enSembl)ENSG00000138434
Phylogenetic Trees/Animal Genes : TreeFamITPRID2
HOGENOMP28290
Homologs : HomoloGeneITPRID2
Homology/Alignments : Family Browser (UCSC)ITPRID2
Gene fusions - Rearrangements
Fusion : QuiverITPRID2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerITPRID2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ITPRID2
dbVarITPRID2
ClinVarITPRID2
1000_GenomesITPRID2 
Exome Variant ServerITPRID2
ExAC (Exome Aggregation Consortium)ENSG00000138434
GNOMAD BrowserENSG00000138434
Varsome BrowserITPRID2
Genetic variants : HAPMAP6744
Genomic Variants (DGV)ITPRID2 [DGVbeta]
DECIPHERITPRID2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisITPRID2 
Mutations
ICGC Data PortalITPRID2 
TCGA Data PortalITPRID2 
Broad Tumor PortalITPRID2
OASIS PortalITPRID2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICITPRID2  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DITPRID2
Mutations and Diseases : HGMDITPRID2
BioMutasearch ITPRID2
DgiDB (Drug Gene Interaction Database)ITPRID2
DoCM (Curated mutations)ITPRID2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ITPRID2 (select a term)
intoGenITPRID2
Cancer3DITPRID2(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM118990   
Orphanet
DisGeNETITPRID2
MedgenITPRID2
Genetic Testing Registry ITPRID2
NextProtP28290 [Medical]
TSGene6744
GENETestsITPRID2
Target ValidationITPRID2
Huge Navigator ITPRID2 [HugePedia]
snp3D : Map Gene to Disease6744
BioCentury BCIQITPRID2
ClinGenITPRID2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6744
Chemical/Pharm GKB GenePA36143
Clinical trialITPRID2
Miscellaneous
canSAR (ICR)ITPRID2 (select the gene name)
DataMed IndexITPRID2
Probes
Litterature
PubMed38 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineITPRID2
EVEXITPRID2
GoPubMedITPRID2
iHOPITPRID2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Nov 13 17:48:59 CET 2019

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