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SERPINB6 (serpin peptidase inhibitor, clade B (ovalbumin), member 6)

Identity

Other namesCAP
DFNB91
MSTP057
PI-6
PI6
PTI
SPI3
HGNC (Hugo) SERPINB6
LocusID (NCBI) 5269
Location 6p25.2
Location_base_pair Starts at 2948393 and ends at 2972399 bp from pter ( according to hg19-Feb_2009)
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

External links

Nomenclature
HGNC (Hugo)SERPINB6   8950
Cards
Entrez_Gene (NCBI)SERPINB6  5269  serpin peptidase inhibitor, clade B (ovalbumin), member 6
GeneCards (Weizmann)SERPINB6
Ensembl hg19 (Hinxton)ENSG00000124570 [Gene_View]  chr6:2948393-2972399 [Contig_View]  SERPINB6 [Vega]
Ensembl hg38 (Hinxton)ENSG00000124570 [Gene_View]  chr6:2948393-2972399 [Contig_View]  SERPINB6 [Vega]
ICGC DataPortalENSG00000124570
cBioPortalSERPINB6
AceView (NCBI)SERPINB6
Genatlas (Paris)SERPINB6
WikiGenes5269
SOURCE (Princeton)SERPINB6
Genomic and cartography
GoldenPath hg19 (UCSC)SERPINB6  -     chr6:2948393-2972399 -  6p25.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)SERPINB6  -     6p25.2   [Description]    (hg38-Dec_2013)
EnsemblSERPINB6 - 6p25.2 [CytoView hg19]  SERPINB6 - 6p25.2 [CytoView hg38]
Mapping of homologs : NCBISERPINB6 [Mapview hg19]  SERPINB6 [Mapview hg38]
OMIM173321   613453   
Gene and transcription
Genbank (Entrez)AB209563 AF116727 AK027149 AK056729 AK057138
RefSeq transcript (Entrez)NM_001195291 NM_001271822 NM_001271823 NM_001271824 NM_001271825 NM_001297699 NM_001297700 NM_004568
RefSeq genomic (Entrez)AC_000138 NC_000006 NC_018917 NG_027692 NT_007592 NW_001838972 NW_004929326
Consensus coding sequences : CCDS (NCBI)SERPINB6
Cluster EST : UnigeneHs.731506 [ NCBI ]
CGAP (NCI)Hs.731506
Alternative Splicing : Fast-db (Paris)GSHG0026254
Alternative Splicing GalleryENSG00000124570
Gene ExpressionSERPINB6 [ NCBI-GEO ]     SERPINB6 [ SEEK ]   SERPINB6 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP35237 (Uniprot)
NextProtP35237  [Medical]
With graphics : InterProP35237
Splice isoforms : SwissVarP35237 (Swissvar)
Domaine pattern : Prosite (Expaxy)SERPIN (PS00284)   
Domains : Interpro (EBI)Serpin_CS    Serpin_dom    Serpin_fam   
Related proteins : CluSTrP35237
Domain families : Pfam (Sanger)Serpin (PF00079)   
Domain families : Pfam (NCBI)pfam00079   
Domain families : Smart (EMBL)SERPIN (SM00093)  
DMDM Disease mutations5269
Blocks (Seattle)P35237
Human Protein AtlasENSG00000124570
Peptide AtlasP35237
HPRD01413
IPIIPI00513699   IPI00413451   
Protein Interaction databases
DIP (DOE-UCLA)P35237
IntAct (EBI)P35237
FunCoupENSG00000124570
BioGRIDSERPINB6
IntegromeDBSERPINB6
STRING (EMBL)SERPINB6
Ontologies - Pathways
QuickGOP35237
Ontology : AmiGOprotease binding  serine-type endopeptidase inhibitor activity  serine-type endopeptidase inhibitor activity  extracellular space  cytoplasm  cytosol  negative regulation of endopeptidase activity  negative regulation of endopeptidase activity  regulation of proteolysis  protein complex  extracellular vesicular exosome  
Ontology : EGO-EBIprotease binding  serine-type endopeptidase inhibitor activity  serine-type endopeptidase inhibitor activity  extracellular space  cytoplasm  cytosol  negative regulation of endopeptidase activity  negative regulation of endopeptidase activity  regulation of proteolysis  protein complex  extracellular vesicular exosome  
Pathways : KEGGAmoebiasis   
Protein Interaction DatabaseSERPINB6
DoCM (Curated mutations)SERPINB6
Wikipedia pathwaysSERPINB6
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerSERPINB6 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SERPINB6
dbVarSERPINB6
ClinVarSERPINB6
1000_GenomesSERPINB6 
Exome Variant ServerSERPINB6
SNP (GeneSNP Utah)SERPINB6
SNP : HGBaseSERPINB6
Genetic variants : HAPMAPSERPINB6
Genomic VariantsSERPINB6  SERPINB6 [DGVbeta]
Mutations
ICGC Data PortalENSG00000124570 
Somatic Mutations in Cancer : COSMICSERPINB6 
CONAN: Copy Number AnalysisSERPINB6 
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
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)6:2948393-2972399
Mutations and Diseases : HGMDSERPINB6
OMIM173321    613453   
MedgenSERPINB6
NextProtP35237 [Medical]
GENETestsSERPINB6
Disease Genetic AssociationSERPINB6
Huge Navigator SERPINB6 [HugePedia]  SERPINB6 [HugeCancerGEM]
snp3D : Map Gene to Disease5269
DGIdb (Drug Gene Interaction db)SERPINB6
General knowledge
Homologs : HomoloGeneSERPINB6
Homology/Alignments : Family Browser (UCSC)SERPINB6
Phylogenetic Trees/Animal Genes : TreeFamSERPINB6
Chemical/Protein Interactions : CTD5269
Chemical/Pharm GKB GenePA35516
Clinical trialSERPINB6
Cancer Resource (Charite)ENSG00000124570
Other databases
Probes
Litterature
PubMed33 Pubmed reference(s) in Entrez
CoreMineSERPINB6
GoPubMedSERPINB6
iHOPSERPINB6
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2014Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sun Dec 21 01:22:25 CET 2014

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