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CAPN12 (calpain 12)

Identity

Other alias-
HGNC (Hugo) CAPN12
LocusID (NCBI) 147968
Atlas_Id 61406
Location 19q13.2  [Link to chromosome band 19q13]
Location_base_pair Starts at 38730192 and ends at 38744474 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ZNF607 (19q13.12) / CAPN12 (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)CAPN12   13249
Cards
Entrez_Gene (NCBI)CAPN12  147968  calpain 12
Aliases
GeneCards (Weizmann)CAPN12
Ensembl hg19 (Hinxton)ENSG00000182472 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000182472 [Gene_View]  chr19:38730192-38744474 [Contig_View]  CAPN12 [Vega]
ICGC DataPortalENSG00000182472
TCGA cBioPortalCAPN12
AceView (NCBI)CAPN12
Genatlas (Paris)CAPN12
WikiGenes147968
SOURCE (Princeton)CAPN12
Genetics Home Reference (NIH)CAPN12
Genomic and cartography
GoldenPath hg38 (UCSC)CAPN12  -     chr19:38730192-38744474 -  19q13.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CAPN12  -     19q13.2   [Description]    (hg19-Feb_2009)
EnsemblCAPN12 - 19q13.2 [CytoView hg19]  CAPN12 - 19q13.2 [CytoView hg38]
Mapping of homologs : NCBICAPN12 [Mapview hg19]  CAPN12 [Mapview hg38]
OMIM608839   
Gene and transcription
Genbank (Entrez)AK125713 AK127398 BC014027 BC040022 BC140397
RefSeq transcript (Entrez)NM_144691
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CAPN12
Cluster EST : UnigeneHs.731775 [ NCBI ]
CGAP (NCI)Hs.731775
Alternative Splicing GalleryENSG00000182472
Gene ExpressionCAPN12 [ NCBI-GEO ]   CAPN12 [ EBI - ARRAY_EXPRESS ]   CAPN12 [ SEEK ]   CAPN12 [ MEM ]
Gene Expression Viewer (FireBrowse)CAPN12 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)147968
GTEX Portal (Tissue expression)CAPN12
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6ZSI9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ6ZSI9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ6ZSI9
Splice isoforms : SwissVarQ6ZSI9
Catalytic activity : Enzyme3.4.22.- [ Enzyme-Expasy ]   3.4.22.-3.4.22.- [ IntEnz-EBI ]   3.4.22.- [ BRENDA ]   3.4.22.- [ KEGG ]   
PhosPhoSitePlusQ6ZSI9
Domaine pattern : Prosite (Expaxy)CALPAIN_CAT (PS50203)    EF_HAND_1 (PS00018)    EF_HAND_2 (PS50222)    THIOL_PROTEASE_CYS (PS00139)   
Domains : Interpro (EBI)C2_III    Calpain_cysteine_protease    Calpain_domain_III    Calpain_III    CAPN12    EF-hand-dom_pair    EF_Hand_1_Ca_BS    EF_hand_dom    Pept_cys_AS    Peptidase_C2_calpain_cat   
Domain families : Pfam (Sanger)Calpain_III (PF01067)    Peptidase_C2 (PF00648)   
Domain families : Pfam (NCBI)pfam01067    pfam00648   
Domain families : Smart (EMBL)calpain_III (SM00720)  CysPc (SM00230)  
Conserved Domain (NCBI)CAPN12
DMDM Disease mutations147968
Blocks (Seattle)CAPN12
SuperfamilyQ6ZSI9
Human Protein AtlasENSG00000182472
Peptide AtlasQ6ZSI9
HPRD07007
IPIIPI00418873   
Protein Interaction databases
DIP (DOE-UCLA)Q6ZSI9
IntAct (EBI)Q6ZSI9
FunCoupENSG00000182472
BioGRIDCAPN12
STRING (EMBL)CAPN12
ZODIACCAPN12
Ontologies - Pathways
QuickGOQ6ZSI9
Ontology : AmiGOcalcium-dependent cysteine-type endopeptidase activity  calcium ion binding  cytoplasm  proteolysis  
Ontology : EGO-EBIcalcium-dependent cysteine-type endopeptidase activity  calcium ion binding  cytoplasm  proteolysis  
NDEx NetworkCAPN12
Atlas of Cancer Signalling NetworkCAPN12
Wikipedia pathwaysCAPN12
Orthology - Evolution
OrthoDB147968
GeneTree (enSembl)ENSG00000182472
Phylogenetic Trees/Animal Genes : TreeFamCAPN12
HOVERGENQ6ZSI9
HOGENOMQ6ZSI9
Homologs : HomoloGeneCAPN12
Homology/Alignments : Family Browser (UCSC)CAPN12
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCAPN12 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CAPN12
dbVarCAPN12
ClinVarCAPN12
1000_GenomesCAPN12 
Exome Variant ServerCAPN12
ExAC (Exome Aggregation Consortium)CAPN12 (select the gene name)
Genetic variants : HAPMAP147968
Genomic Variants (DGV)CAPN12 [DGVbeta]
DECIPHERCAPN12 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCAPN12 
Mutations
ICGC Data PortalCAPN12 
TCGA Data PortalCAPN12 
Broad Tumor PortalCAPN12
OASIS PortalCAPN12 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCAPN12  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCAPN12
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 CAPN12
DgiDB (Drug Gene Interaction Database)CAPN12
DoCM (Curated mutations)CAPN12 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CAPN12 (select a term)
intoGenCAPN12
Cancer3DCAPN12(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608839   
Orphanet
MedgenCAPN12
Genetic Testing Registry CAPN12
NextProtQ6ZSI9 [Medical]
TSGene147968
GENETestsCAPN12
Huge Navigator CAPN12 [HugePedia]
snp3D : Map Gene to Disease147968
BioCentury BCIQCAPN12
ClinGenCAPN12
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD147968
Chemical/Pharm GKB GenePA134863447
Clinical trialCAPN12
Miscellaneous
canSAR (ICR)CAPN12 (select the gene name)
Probes
Litterature
PubMed4 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCAPN12
EVEXCAPN12
GoPubMedCAPN12
iHOPCAPN12
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri May 19 11:04:18 CEST 2017

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