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SPINT2 (serine peptidase inhibitor, Kunitz type 2)

Identity

Alias_namesserine protease inhibitor
Alias_symbol (synonym)Kop
HAI-2
Other aliasDIAR3
HAI2
PB
HGNC (Hugo) SPINT2
LocusID (NCBI) 10653
Atlas_Id 43960
Location 19q13.2  [Link to chromosome band 19q13]
Location_base_pair Starts at 38264458 and ends at 38292614 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
PAK4 (19q13.2) / SPINT2 (19q13.2)PICK1 (22q13.1) / SPINT2 (19q13.2)SPINT1 (15q15.1) / SPINT2 (19q13.2)
SPINT2 (19q13.2) / ADORA2B (17p12)SPINT2 (19q13.2) / C19orf33 (19q13.2)SPINT2 (19q13.2) / DPF1 (19q13.2)
SPINT2 (19q13.2) / MAP4K1 (19q13.2)SPINT2 (19q13.2) / PAK1 (11q13.5)SPINT2 (19q13.2) / PPM1N (19q13.32)
PAK4 19q13.2 / SPINT2 19q13.2SPINT2 19q13.2 / DPF1 19q13.2SPINT2 19q13.2 / MAP4K1 19q13.2

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)SPINT2   11247
Cards
Entrez_Gene (NCBI)SPINT2  10653  serine peptidase inhibitor, Kunitz type 2
AliasesDIAR3; HAI-2; HAI2; Kop; 
PB
GeneCards (Weizmann)SPINT2
Ensembl hg19 (Hinxton)ENSG00000167642 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000167642 [Gene_View]  chr19:38264458-38292614 [Contig_View]  SPINT2 [Vega]
ICGC DataPortalENSG00000167642
TCGA cBioPortalSPINT2
AceView (NCBI)SPINT2
Genatlas (Paris)SPINT2
WikiGenes10653
SOURCE (Princeton)SPINT2
Genetics Home Reference (NIH)SPINT2
Genomic and cartography
GoldenPath hg38 (UCSC)SPINT2  -     chr19:38264458-38292614 +  19q13.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SPINT2  -     19q13.2   [Description]    (hg19-Feb_2009)
EnsemblSPINT2 - 19q13.2 [CytoView hg19]  SPINT2 - 19q13.2 [CytoView hg38]
Mapping of homologs : NCBISPINT2 [Mapview hg19]  SPINT2 [Mapview hg38]
OMIM270420   605124   
Gene and transcription
Genbank (Entrez)AB006534 AF027205 AI199013 AK127479 AK291532
RefSeq transcript (Entrez)NM_001166103 NM_021102
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SPINT2
Cluster EST : UnigeneHs.31439 [ NCBI ]
CGAP (NCI)Hs.31439
Alternative Splicing GalleryENSG00000167642
Gene ExpressionSPINT2 [ NCBI-GEO ]   SPINT2 [ EBI - ARRAY_EXPRESS ]   SPINT2 [ SEEK ]   SPINT2 [ MEM ]
Gene Expression Viewer (FireBrowse)SPINT2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10653
GTEX Portal (Tissue expression)SPINT2
Protein : pattern, domain, 3D structure
UniProt/SwissProtO43291   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO43291  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO43291
Splice isoforms : SwissVarO43291
PhosPhoSitePlusO43291
Domaine pattern : Prosite (Expaxy)BPTI_KUNITZ_1 (PS00280)    BPTI_KUNITZ_2 (PS50279)   
Domains : Interpro (EBI)Kunitz_BPTI    Prtase_inh_Kunz-CS   
Domain families : Pfam (Sanger)Kunitz_BPTI (PF00014)   
Domain families : Pfam (NCBI)pfam00014   
Domain families : Smart (EMBL)KU (SM00131)  
Conserved Domain (NCBI)SPINT2
DMDM Disease mutations10653
Blocks (Seattle)SPINT2
PDB (SRS)4U32   
PDB (PDBSum)4U32   
PDB (IMB)4U32   
PDB (RSDB)4U32   
Structural Biology KnowledgeBase4U32   
SCOP (Structural Classification of Proteins)4U32   
CATH (Classification of proteins structures)4U32   
SuperfamilyO43291
Human Protein AtlasENSG00000167642
Peptide AtlasO43291
HPRD05495
IPIIPI00011662   IPI00909783   
Protein Interaction databases
DIP (DOE-UCLA)O43291
IntAct (EBI)O43291
FunCoupENSG00000167642
BioGRIDSPINT2
STRING (EMBL)SPINT2
ZODIACSPINT2
Ontologies - Pathways
QuickGOO43291
Ontology : AmiGOneural tube closure  endopeptidase inhibitor activity  serine-type endopeptidase inhibitor activity  extracellular region  cytoplasm  plasma membrane  movement of cell or subcellular component  establishment or maintenance of cell polarity  negative regulation of endopeptidase activity  integral component of membrane  negative regulation of cell-cell adhesion  epithelial cell morphogenesis involved in placental branching  basement membrane organization  cellular response to BMP stimulus  negative regulation of cell motility  negative regulation of neural precursor cell proliferation  
Ontology : EGO-EBIneural tube closure  endopeptidase inhibitor activity  serine-type endopeptidase inhibitor activity  extracellular region  cytoplasm  plasma membrane  movement of cell or subcellular component  establishment or maintenance of cell polarity  negative regulation of endopeptidase activity  integral component of membrane  negative regulation of cell-cell adhesion  epithelial cell morphogenesis involved in placental branching  basement membrane organization  cellular response to BMP stimulus  negative regulation of cell motility  negative regulation of neural precursor cell proliferation  
NDEx NetworkSPINT2
Atlas of Cancer Signalling NetworkSPINT2
Wikipedia pathwaysSPINT2
Orthology - Evolution
OrthoDB10653
GeneTree (enSembl)ENSG00000167642
Phylogenetic Trees/Animal Genes : TreeFamSPINT2
HOVERGENO43291
HOGENOMO43291
Homologs : HomoloGeneSPINT2
Homology/Alignments : Family Browser (UCSC)SPINT2
Gene fusions - Rearrangements
Fusion : MitelmanPAK4/SPINT2 [19q13.2/19q13.2]  [t(19;19)(q13;q13)]  
Fusion : MitelmanSPINT2/DPF1 [19q13.2/19q13.2]  [t(19;19)(q13;q13)]  
Fusion : MitelmanSPINT2/MAP4K1 [19q13.2/19q13.2]  [t(19;19)(q13;q13)]  
Fusion: TCGAPAK4 19q13.2 SPINT2 19q13.2 BRCA
Fusion: TCGASPINT2 19q13.2 DPF1 19q13.2 LUAD
Fusion: TCGASPINT2 19q13.2 MAP4K1 19q13.2 LUAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSPINT2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SPINT2
dbVarSPINT2
ClinVarSPINT2
1000_GenomesSPINT2 
Exome Variant ServerSPINT2
ExAC (Exome Aggregation Consortium)SPINT2 (select the gene name)
Genetic variants : HAPMAP10653
Genomic Variants (DGV)SPINT2 [DGVbeta]
DECIPHERSPINT2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSPINT2 
Mutations
ICGC Data PortalSPINT2 
TCGA Data PortalSPINT2 
Broad Tumor PortalSPINT2
OASIS PortalSPINT2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSPINT2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSPINT2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch SPINT2
DgiDB (Drug Gene Interaction Database)SPINT2
DoCM (Curated mutations)SPINT2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SPINT2 (select a term)
intoGenSPINT2
Cancer3DSPINT2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM270420    605124   
Orphanet14984   
MedgenSPINT2
Genetic Testing Registry SPINT2
NextProtO43291 [Medical]
TSGene10653
GENETestsSPINT2
Huge Navigator SPINT2 [HugePedia]
snp3D : Map Gene to Disease10653
BioCentury BCIQSPINT2
ClinGenSPINT2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10653
Chemical/Pharm GKB GenePA36077
Clinical trialSPINT2
Miscellaneous
canSAR (ICR)SPINT2 (select the gene name)
Probes
Litterature
PubMed64 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSPINT2
EVEXSPINT2
GoPubMedSPINT2
iHOPSPINT2
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 May 19 12:38:51 CEST 2017

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