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SPINK2 (serine peptidase inhibitor, Kazal type 2)

Identity

Alias_namesserine protease inhibitor, Kazal type 2 (acrosin-trypsin inhibitor)
serine peptidase inhibitor, Kazal type 2 (acrosin-trypsin inhibitor)
Alias_symbol (synonym)HUSI-II
Other alias
HGNC (Hugo) SPINK2
LocusID (NCBI) 6691
Atlas_Id 51190
Location 4q12  [Link to chromosome band 4q12]
Location_base_pair Starts at 57676026 and ends at 57687908 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
PIGG (4p16.3) / SPINK2 (4q12)SCFD2 (4q12) / SPINK2 (4q12)TMPRSS11D (4q13.2) / SPINK2 (4q12)
PIGG 4p16.3 / SPINK2 4q12SCFD2 4q12 / SPINK2 4q12TMPRSS11D 4q13.2 / SPINK2 4q12

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)SPINK2   11245
Cards
Entrez_Gene (NCBI)SPINK2  6691  serine peptidase inhibitor, Kazal type 2
AliasesHUSI-II
GeneCards (Weizmann)SPINK2
Ensembl hg19 (Hinxton)ENSG00000128040 [Gene_View]  chr4:57676026-57687908 [Contig_View]  SPINK2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000128040 [Gene_View]  chr4:57676026-57687908 [Contig_View]  SPINK2 [Vega]
ICGC DataPortalENSG00000128040
TCGA cBioPortalSPINK2
AceView (NCBI)SPINK2
Genatlas (Paris)SPINK2
WikiGenes6691
SOURCE (Princeton)SPINK2
Genetics Home Reference (NIH)SPINK2
Genomic and cartography
GoldenPath hg19 (UCSC)SPINK2  -     chr4:57676026-57687908 -  4q12   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)SPINK2  -     4q12   [Description]    (hg38-Dec_2013)
EnsemblSPINK2 - 4q12 [CytoView hg19]  SPINK2 - 4q12 [CytoView hg38]
Mapping of homologs : NCBISPINK2 [Mapview hg19]  SPINK2 [Mapview hg38]
OMIM605753   
Gene and transcription
Genbank (Entrez)AA776754 AA973772 AK312222 AV743457 AW592089
RefSeq transcript (Entrez)NM_001271718 NM_001271719 NM_001271720 NM_001271721 NM_001271722 NM_021114
RefSeq genomic (Entrez)NC_000004 NC_018915 NT_022853 NW_004929319
Consensus coding sequences : CCDS (NCBI)SPINK2
Cluster EST : UnigeneHs.98243 [ NCBI ]
CGAP (NCI)Hs.98243
Alternative Splicing GalleryENSG00000128040
Gene ExpressionSPINK2 [ NCBI-GEO ]   SPINK2 [ EBI - ARRAY_EXPRESS ]   SPINK2 [ SEEK ]   SPINK2 [ MEM ]
Gene Expression Viewer (FireBrowse)SPINK2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6691
GTEX Portal (Tissue expression)SPINK2
Protein : pattern, domain, 3D structure
UniProt/SwissProtP20155   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP20155  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP20155
Splice isoforms : SwissVarP20155
PhosPhoSitePlusP20155
Domaine pattern : Prosite (Expaxy)KAZAL_1 (PS00282)    KAZAL_2 (PS51465)   
Domains : Interpro (EBI)Kazal_dom   
Domain families : Pfam (Sanger)Kazal_1 (PF00050)   
Domain families : Pfam (NCBI)pfam00050   
Domain families : Smart (EMBL)KAZAL (SM00280)  
Conserved Domain (NCBI)SPINK2
DMDM Disease mutations6691
Blocks (Seattle)SPINK2
PDB (SRS)2JXD   
PDB (PDBSum)2JXD   
PDB (IMB)2JXD   
PDB (RSDB)2JXD   
Structural Biology KnowledgeBase2JXD   
SCOP (Structural Classification of Proteins)2JXD   
CATH (Classification of proteins structures)2JXD   
SuperfamilyP20155
Human Protein AtlasENSG00000128040
Peptide AtlasP20155
HPRD10422
IPIIPI00022231   IPI00967048   IPI00965033   
Protein Interaction databases
DIP (DOE-UCLA)P20155
IntAct (EBI)P20155
FunCoupENSG00000128040
BioGRIDSPINK2
STRING (EMBL)SPINK2
ZODIACSPINK2
Ontologies - Pathways
QuickGOP20155
Ontology : AmiGOacrosomal vesicle  endopeptidase inhibitor activity  serine-type endopeptidase inhibitor activity  protein binding  extracellular space  regulation of acrosome reaction  negative regulation of serine-type endopeptidase activity  
Ontology : EGO-EBIacrosomal vesicle  endopeptidase inhibitor activity  serine-type endopeptidase inhibitor activity  protein binding  extracellular space  regulation of acrosome reaction  negative regulation of serine-type endopeptidase activity  
NDEx NetworkSPINK2
Atlas of Cancer Signalling NetworkSPINK2
Wikipedia pathwaysSPINK2
Orthology - Evolution
OrthoDB6691
GeneTree (enSembl)ENSG00000128040
Phylogenetic Trees/Animal Genes : TreeFamSPINK2
HOVERGENP20155
HOGENOMP20155
Homologs : HomoloGeneSPINK2
Homology/Alignments : Family Browser (UCSC)SPINK2
Gene fusions - Rearrangements
Fusion : MitelmanPIGG/SPINK2 [4p16.3/4q12]  [t(4;4)(p16;q12)]  
Fusion : MitelmanTMPRSS11D/SPINK2 [4q13.2/4q12]  [t(4;4)(q12;q13)]  
Fusion: TCGAPIGG 4p16.3 SPINK2 4q12 GBM
Fusion: TCGASCFD2 4q12 SPINK2 4q12 LGG
Fusion: TCGATMPRSS11D 4q13.2 SPINK2 4q12 HNSC
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSPINK2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SPINK2
dbVarSPINK2
ClinVarSPINK2
1000_GenomesSPINK2 
Exome Variant ServerSPINK2
ExAC (Exome Aggregation Consortium)SPINK2 (select the gene name)
Genetic variants : HAPMAP6691
Genomic Variants (DGV)SPINK2 [DGVbeta]
DECIPHER (Syndromes)4:57676026-57687908  ENSG00000128040
CONAN: Copy Number AnalysisSPINK2 
Mutations
ICGC Data PortalSPINK2 
TCGA Data PortalSPINK2 
Broad Tumor PortalSPINK2
OASIS PortalSPINK2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSPINK2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSPINK2
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 SPINK2
DgiDB (Drug Gene Interaction Database)SPINK2
DoCM (Curated mutations)SPINK2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SPINK2 (select a term)
intoGenSPINK2
Cancer3DSPINK2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605753   
Orphanet
MedgenSPINK2
Genetic Testing Registry SPINK2
NextProtP20155 [Medical]
TSGene6691
GENETestsSPINK2
Huge Navigator SPINK2 [HugePedia]
snp3D : Map Gene to Disease6691
BioCentury BCIQSPINK2
ClinGenSPINK2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6691
Chemical/Pharm GKB GenePA36075
Clinical trialSPINK2
Miscellaneous
canSAR (ICR)SPINK2 (select the gene name)
Probes
Litterature
PubMed14 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSPINK2
EVEXSPINK2
GoPubMedSPINK2
iHOPSPINK2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 15:20:39 CEST 2017

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