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SPINK6 (serine peptidase inhibitor Kazal type 6)

Identity

Alias (NCBI)BUSI2
UNQ844
HGNC (Hugo) SPINK6
HGNC Alias symbMGC21394
UNQ844
BUSI2
HGNC Alias nameprotease inhibitor H
HGNC Previous nameserine protease inhibitor, Kazal type 6
LocusID (NCBI) 404203
Atlas_Id 57134
Location 5q32  [Link to chromosome band 5q32]
Location_base_pair Starts at 148203042 and ends at 148215137 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)
FBXO38 (5q32)::SPINK6 (5q32)

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)SPINK6   29486
Cards
Entrez_Gene (NCBI)SPINK6    serine peptidase inhibitor Kazal type 6
AliasesBUSI2; UNQ844
GeneCards (Weizmann)SPINK6
Ensembl hg19 (Hinxton)ENSG00000178172 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000178172 [Gene_View]  ENSG00000178172 [Sequence]  chr5:148203042-148215137 [Contig_View]  SPINK6 [Vega]
ICGC DataPortalENSG00000178172
TCGA cBioPortalSPINK6
AceView (NCBI)SPINK6
Genatlas (Paris)SPINK6
SOURCE (Princeton)SPINK6
Genetics Home Reference (NIH)SPINK6
Genomic and cartography
GoldenPath hg38 (UCSC)SPINK6  -     chr5:148203042-148215137 +  5q32   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SPINK6  -     5q32   [Description]    (hg19-Feb_2009)
GoldenPathSPINK6 - 5q32 [CytoView hg19]  SPINK6 - 5q32 [CytoView hg38]
ImmunoBaseENSG00000178172
Genome Data Viewer NCBISPINK6 [Mapview hg19]  
OMIM615868   
Gene and transcription
Genbank (Entrez)AY358716 BC032003 BE122852 GQ504704 GQ504705
RefSeq transcript (Entrez)NM_001195290 NM_205841
Consensus coding sequences : CCDS (NCBI)SPINK6
Gene ExpressionSPINK6 [ NCBI-GEO ]   SPINK6 [ EBI - ARRAY_EXPRESS ]   SPINK6 [ SEEK ]   SPINK6 [ MEM ]
Gene Expression Viewer (FireBrowse)SPINK6 [ Firebrowse - Broad ]
GenevisibleExpression of SPINK6 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)404203
GTEX Portal (Tissue expression)SPINK6
Human Protein AtlasENSG00000178172-SPINK6 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6UWN8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ6UWN8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ6UWN8
PhosPhoSitePlusQ6UWN8
Domaine pattern : Prosite (Expaxy)KAZAL_1 (PS00282)    KAZAL_2 (PS51465)   
Domains : Interpro (EBI)Kazal_dom    Kazal_dom_sf   
Domain families : Pfam (Sanger)Kazal_1 (PF00050)   
Domain families : Pfam (NCBI)pfam00050   
Domain families : Smart (EMBL)KAZAL (SM00280)  
Conserved Domain (NCBI)SPINK6
PDB (RSDB)2N52   
PDB Europe2N52   
PDB (PDBSum)2N52   
PDB (IMB)2N52   
Structural Biology KnowledgeBase2N52   
SCOP (Structural Classification of Proteins)2N52   
CATH (Classification of proteins structures)2N52   
SuperfamilyQ6UWN8
AlphaFold pdb e-kbQ6UWN8   
Human Protein Atlas [tissue]ENSG00000178172-SPINK6 [tissue]
Protein Interaction databases
DIP (DOE-UCLA)Q6UWN8
IntAct (EBI)Q6UWN8
BioGRIDSPINK6
STRING (EMBL)SPINK6
ZODIACSPINK6
Ontologies - Pathways
QuickGOQ6UWN8
Ontology : AmiGOserine-type endopeptidase inhibitor activity  extracellular region  multicellular organism development  central nervous system development  cell differentiation  cornification  negative regulation of serine-type endopeptidase activity  negative regulation of serine-type peptidase activity  
Ontology : EGO-EBIserine-type endopeptidase inhibitor activity  extracellular region  multicellular organism development  central nervous system development  cell differentiation  cornification  negative regulation of serine-type endopeptidase activity  negative regulation of serine-type peptidase activity  
NDEx NetworkSPINK6
Atlas of Cancer Signalling NetworkSPINK6
Wikipedia pathwaysSPINK6
Orthology - Evolution
OrthoDB404203
GeneTree (enSembl)ENSG00000178172
Phylogenetic Trees/Animal Genes : TreeFamSPINK6
Homologs : HomoloGeneSPINK6
Homology/Alignments : Family Browser (UCSC)SPINK6
Gene fusions - Rearrangements
Fusion : QuiverSPINK6
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSPINK6 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SPINK6
dbVarSPINK6
ClinVarSPINK6
MonarchSPINK6
1000_GenomesSPINK6 
Exome Variant ServerSPINK6
GNOMAD BrowserENSG00000178172
Varsome BrowserSPINK6
ACMGSPINK6 variants
VarityQ6UWN8
Genomic Variants (DGV)SPINK6 [DGVbeta]
DECIPHERSPINK6 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSPINK6 
Mutations
ICGC Data PortalSPINK6 
TCGA Data PortalSPINK6 
Broad Tumor PortalSPINK6
OASIS PortalSPINK6 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSPINK6  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DSPINK6
Mutations and Diseases : HGMDSPINK6
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaSPINK6
DgiDB (Drug Gene Interaction Database)SPINK6
DoCM (Curated mutations)SPINK6
CIViC (Clinical Interpretations of Variants in Cancer)SPINK6
Cancer3DSPINK6
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM615868   
Orphanet
DisGeNETSPINK6
MedgenSPINK6
Genetic Testing Registry SPINK6
NextProtQ6UWN8 [Medical]
GENETestsSPINK6
Target ValidationSPINK6
Huge Navigator SPINK6 [HugePedia]
ClinGenSPINK6
Clinical trials, drugs, therapy
MyCancerGenomeSPINK6
Protein Interactions : CTDSPINK6
Pharm GKB GenePA134915474
PharosQ6UWN8
Clinical trialSPINK6
Miscellaneous
canSAR (ICR)SPINK6
HarmonizomeSPINK6
ARCHS4SPINK6
DataMed IndexSPINK6
Probes
Litterature
PubMed16 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXSPINK6
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Sun Jan 16 18:35:15 CET 2022

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