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ADAMTSL2 (ADAMTS like 2)

Identity

Alias_symbol (synonym)KIAA0605
HGNC (Hugo) ADAMTSL2
LocusID (NCBI) 9719
Atlas_Id 51754
Location 9q34.2  [Link to chromosome band 9q34]
Location_base_pair Starts at 136397286 and ends at 136440641 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ABL1 (9q34.12) / ADAMTSL2 (9q34.2)ADAMTSL2 (9q34.2) / MAPKAP1 (9q33.3)ABL1 9q34.12 / ADAMTSL2 9q34.2
ADAMTSL2 9q34.2 / MAPKAP1 9q33.3

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)ADAMTSL2   14631
Cards
Entrez_Gene (NCBI)ADAMTSL2  9719  ADAMTS like 2
AliasesGPHYSD1
GeneCards (Weizmann)ADAMTSL2
Ensembl hg19 (Hinxton)ENSG00000197859 [Gene_View]  chr9:136397286-136440641 [Contig_View]  ADAMTSL2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000197859 [Gene_View]  chr9:136397286-136440641 [Contig_View]  ADAMTSL2 [Vega]
ICGC DataPortalENSG00000197859
TCGA cBioPortalADAMTSL2
AceView (NCBI)ADAMTSL2
Genatlas (Paris)ADAMTSL2
WikiGenes9719
SOURCE (Princeton)ADAMTSL2
Genetics Home Reference (NIH)ADAMTSL2
Genomic and cartography
GoldenPath hg19 (UCSC)ADAMTSL2  -     chr9:136397286-136440641 +  9q34.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ADAMTSL2  -     9q34.2   [Description]    (hg38-Dec_2013)
EnsemblADAMTSL2 - 9q34.2 [CytoView hg19]  ADAMTSL2 - 9q34.2 [CytoView hg38]
Mapping of homologs : NCBIADAMTSL2 [Mapview hg19]  ADAMTSL2 [Mapview hg38]
OMIM231050   612277   
Gene and transcription
Genbank (Entrez)AB011177 AI571260 AK127107 AK293498 BC050544
RefSeq transcript (Entrez)NM_001145320 NM_014694
RefSeq genomic (Entrez)NC_000009 NC_018920 NG_009931 NT_008470 NW_004929367
Consensus coding sequences : CCDS (NCBI)ADAMTSL2
Cluster EST : UnigeneHs.522543 [ NCBI ]
CGAP (NCI)Hs.522543
Alternative Splicing GalleryENSG00000197859
Gene ExpressionADAMTSL2 [ NCBI-GEO ]   ADAMTSL2 [ EBI - ARRAY_EXPRESS ]   ADAMTSL2 [ SEEK ]   ADAMTSL2 [ MEM ]
Gene Expression Viewer (FireBrowse)ADAMTSL2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9719
GTEX Portal (Tissue expression)ADAMTSL2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ86TH1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ86TH1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ86TH1
Splice isoforms : SwissVarQ86TH1
PhosPhoSitePlusQ86TH1
Domaine pattern : Prosite (Expaxy)PLAC (PS50900)    TSP1 (PS50092)   
Domains : Interpro (EBI)ADAM_spacer1    Peptidase_M12B_ADAM-TS    PLAC    TSP1_rpt   
Domain families : Pfam (Sanger)ADAM_spacer1 (PF05986)    PLAC (PF08686)    TSP_1 (PF00090)   
Domain families : Pfam (NCBI)pfam05986    pfam08686    pfam00090   
Domain families : Smart (EMBL)TSP1 (SM00209)  
Conserved Domain (NCBI)ADAMTSL2
DMDM Disease mutations9719
Blocks (Seattle)ADAMTSL2
SuperfamilyQ86TH1
Human Protein AtlasENSG00000197859
Peptide AtlasQ86TH1
HPRD11096
IPIIPI00644346   IPI00984500   IPI00790458   
Protein Interaction databases
DIP (DOE-UCLA)Q86TH1
IntAct (EBI)Q86TH1
FunCoupENSG00000197859
BioGRIDADAMTSL2
STRING (EMBL)ADAMTSL2
ZODIACADAMTSL2
Ontologies - Pathways
QuickGOQ86TH1
Ontology : AmiGOmetalloendopeptidase activity  protein binding  proteinaceous extracellular matrix  proteolysis  zinc ion binding  extracellular matrix organization  negative regulation of transforming growth factor beta receptor signaling pathway  microfibril binding  lobar bronchus epithelium development  
Ontology : EGO-EBImetalloendopeptidase activity  protein binding  proteinaceous extracellular matrix  proteolysis  zinc ion binding  extracellular matrix organization  negative regulation of transforming growth factor beta receptor signaling pathway  microfibril binding  lobar bronchus epithelium development  
NDEx NetworkADAMTSL2
Atlas of Cancer Signalling NetworkADAMTSL2
Wikipedia pathwaysADAMTSL2
Orthology - Evolution
OrthoDB9719
GeneTree (enSembl)ENSG00000197859
Phylogenetic Trees/Animal Genes : TreeFamADAMTSL2
HOVERGENQ86TH1
HOGENOMQ86TH1
Homologs : HomoloGeneADAMTSL2
Homology/Alignments : Family Browser (UCSC)ADAMTSL2
Gene fusions - Rearrangements
Fusion : MitelmanABL1/ADAMTSL2 [9q34.12/9q34.2]  [t(9;9)(q34;q34)]  
Fusion : MitelmanADAMTSL2/MAPKAP1 [9q34.2/9q33.3]  [t(9;9)(q33;q34)]  
Fusion: TCGAABL1 9q34.12 ADAMTSL2 9q34.2 BRCA
Fusion: TCGAADAMTSL2 9q34.2 MAPKAP1 9q33.3 LUSC
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerADAMTSL2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ADAMTSL2
dbVarADAMTSL2
ClinVarADAMTSL2
1000_GenomesADAMTSL2 
Exome Variant ServerADAMTSL2
ExAC (Exome Aggregation Consortium)ADAMTSL2 (select the gene name)
Genetic variants : HAPMAP9719
Genomic Variants (DGV)ADAMTSL2 [DGVbeta]
DECIPHER (Syndromes)9:136397286-136440641  ENSG00000197859
CONAN: Copy Number AnalysisADAMTSL2 
Mutations
ICGC Data PortalADAMTSL2 
TCGA Data PortalADAMTSL2 
Broad Tumor PortalADAMTSL2
OASIS PortalADAMTSL2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICADAMTSL2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDADAMTSL2
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)Mendelian genes
BioMutasearch ADAMTSL2
DgiDB (Drug Gene Interaction Database)ADAMTSL2
DoCM (Curated mutations)ADAMTSL2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ADAMTSL2 (select a term)
intoGenADAMTSL2
Cancer3DADAMTSL2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM231050    612277   
Orphanet2401   
MedgenADAMTSL2
Genetic Testing Registry ADAMTSL2
NextProtQ86TH1 [Medical]
TSGene9719
GENETestsADAMTSL2
Huge Navigator ADAMTSL2 [HugePedia]
snp3D : Map Gene to Disease9719
BioCentury BCIQADAMTSL2
ClinGenADAMTSL2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9719
Chemical/Pharm GKB GenePA134920655
Clinical trialADAMTSL2
Miscellaneous
canSAR (ICR)ADAMTSL2 (select the gene name)
Probes
Litterature
PubMed10 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineADAMTSL2
EVEXADAMTSL2
GoPubMedADAMTSL2
iHOPADAMTSL2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Nov 18 19:30:13 CET 2016

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