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ISM2 (isthmin 2)

Identity

Alias_namesTHSD3
thrombospondin, type I domain-containing 3
thrombospondin, type I, domain containing 3
isthmin 2 homolog (zebrafish)
Alias_symbol (synonym)FLJ32147
TAIL1
Other alias
HGNC (Hugo) ISM2
LocusID (NCBI) 145501
Atlas_Id 64675
Location 14q24.3  [Link to chromosome band 14q24]
Location_base_pair Starts at 77474395 and ends at 77498867 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
ITPK1 (14q32.12) / ISM2 (14q24.3)

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)ISM2   23176
Cards
Entrez_Gene (NCBI)ISM2  145501  isthmin 2
AliasesTAIL1; THSD3
GeneCards (Weizmann)ISM2
Ensembl hg19 (Hinxton)ENSG00000100593 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000100593 [Gene_View]  chr14:77474395-77498867 [Contig_View]  ISM2 [Vega]
ICGC DataPortalENSG00000100593
TCGA cBioPortalISM2
AceView (NCBI)ISM2
Genatlas (Paris)ISM2
WikiGenes145501
SOURCE (Princeton)ISM2
Genetics Home Reference (NIH)ISM2
Genomic and cartography
GoldenPath hg38 (UCSC)ISM2  -     chr14:77474395-77498867 -  14q24.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ISM2  -     14q24.3   [Description]    (hg19-Feb_2009)
EnsemblISM2 - 14q24.3 [CytoView hg19]  ISM2 - 14q24.3 [CytoView hg38]
Mapping of homologs : NCBIISM2 [Mapview hg19]  ISM2 [Mapview hg38]
OMIM612684   
Gene and transcription
Genbank (Entrez)AJ583024 AK056709 AK075445 AK291600 AK300214
RefSeq transcript (Entrez)NM_182509 NM_199265 NM_199296
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ISM2
Cluster EST : UnigeneHs.29742 [ NCBI ]
CGAP (NCI)Hs.29742
Alternative Splicing GalleryENSG00000100593
Gene ExpressionISM2 [ NCBI-GEO ]   ISM2 [ EBI - ARRAY_EXPRESS ]   ISM2 [ SEEK ]   ISM2 [ MEM ]
Gene Expression Viewer (FireBrowse)ISM2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)145501
GTEX Portal (Tissue expression)ISM2
Human Protein AtlasENSG00000100593-ISM2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6H9L7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ6H9L7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ6H9L7
Splice isoforms : SwissVarQ6H9L7
PhosPhoSitePlusQ6H9L7
Domaine pattern : Prosite (Expaxy)AMOP (PS50856)    TSP1 (PS50092)   
Domains : Interpro (EBI)AMOP_dom    TSP1_rpt   
Domain families : Pfam (Sanger)AMOP (PF03782)    TSP_1 (PF00090)   
Domain families : Pfam (NCBI)pfam03782    pfam00090   
Domain families : Smart (EMBL)AMOP (SM00723)  TSP1 (SM00209)  
Conserved Domain (NCBI)ISM2
DMDM Disease mutations145501
Blocks (Seattle)ISM2
SuperfamilyQ6H9L7
Human Protein Atlas [tissue]ENSG00000100593-ISM2 [tissue]
Peptide AtlasQ6H9L7
HPRD18182
IPIIPI00470797   IPI00384163   IPI00869263   IPI00876993   IPI00877015   IPI00384120   IPI01026040   IPI00748002   IPI00946151   IPI00945999   
Protein Interaction databases
DIP (DOE-UCLA)Q6H9L7
IntAct (EBI)Q6H9L7
FunCoupENSG00000100593
BioGRIDISM2
STRING (EMBL)ISM2
ZODIACISM2
Ontologies - Pathways
QuickGOQ6H9L7
Ontology : AmiGOextracellular region  
Ontology : EGO-EBIextracellular region  
NDEx NetworkISM2
Atlas of Cancer Signalling NetworkISM2
Wikipedia pathwaysISM2
Orthology - Evolution
OrthoDB145501
GeneTree (enSembl)ENSG00000100593
Phylogenetic Trees/Animal Genes : TreeFamISM2
HOVERGENQ6H9L7
HOGENOMQ6H9L7
Homologs : HomoloGeneISM2
Homology/Alignments : Family Browser (UCSC)ISM2
Gene fusions - Rearrangements
Fusion: Tumor Portal ISM2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerISM2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ISM2
dbVarISM2
ClinVarISM2
1000_GenomesISM2 
Exome Variant ServerISM2
ExAC (Exome Aggregation Consortium)ENSG00000100593
GNOMAD BrowserENSG00000100593
Genetic variants : HAPMAP145501
Genomic Variants (DGV)ISM2 [DGVbeta]
DECIPHERISM2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisISM2 
Mutations
ICGC Data PortalISM2 
TCGA Data PortalISM2 
Broad Tumor PortalISM2
OASIS PortalISM2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICISM2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDISM2
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
BioMutasearch ISM2
DgiDB (Drug Gene Interaction Database)ISM2
DoCM (Curated mutations)ISM2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ISM2 (select a term)
intoGenISM2
Cancer3DISM2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM612684   
Orphanet
MedgenISM2
Genetic Testing Registry ISM2
NextProtQ6H9L7 [Medical]
TSGene145501
GENETestsISM2
Target ValidationISM2
Huge Navigator ISM2 [HugePedia]
snp3D : Map Gene to Disease145501
BioCentury BCIQISM2
ClinGenISM2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD145501
Chemical/Pharm GKB GenePA164721097
Clinical trialISM2
Miscellaneous
canSAR (ICR)ISM2 (select the gene name)
Probes
Litterature
PubMed7 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineISM2
EVEXISM2
GoPubMedISM2
iHOPISM2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Nov 9 11:51:46 CET 2017

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