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PVALB (parvalbumin)

Identity

Alias_symbol (synonym)D22S749
Other alias
HGNC (Hugo) PVALB
LocusID (NCBI) 5816
Atlas_Id 72405
Location 22q12.3  [Link to chromosome band 22q12]
Location_base_pair Starts at 36800701 and ends at 36817035 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ADSL (22q13.1) / PVALB (22q12.3)ZMAT2 (5q31.3) / PVALB (22q12.3)

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)PVALB   9704
Cards
Entrez_Gene (NCBI)PVALB  5816  parvalbumin
AliasesD22S749
GeneCards (Weizmann)PVALB
Ensembl hg19 (Hinxton)ENSG00000100362 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000100362 [Gene_View]  chr22:36800701-36817035 [Contig_View]  PVALB [Vega]
ICGC DataPortalENSG00000100362
TCGA cBioPortalPVALB
AceView (NCBI)PVALB
Genatlas (Paris)PVALB
WikiGenes5816
SOURCE (Princeton)PVALB
Genetics Home Reference (NIH)PVALB
Genomic and cartography
GoldenPath hg38 (UCSC)PVALB  -     chr22:36800701-36817035 -  22q12.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PVALB  -     22q12.3   [Description]    (hg19-Feb_2009)
EnsemblPVALB - 22q12.3 [CytoView hg19]  PVALB - 22q12.3 [CytoView hg38]
Mapping of homologs : NCBIPVALB [Mapview hg19]  PVALB [Mapview hg38]
OMIM168890   
Gene and transcription
Genbank (Entrez)AA771973 AI262242 AK311832 AV724364 BC069300
RefSeq transcript (Entrez)NM_001315532 NM_002854
RefSeq genomic (Entrez)NC_000022 NC_018933 NT_187631
Consensus coding sequences : CCDS (NCBI)PVALB
Cluster EST : UnigeneHs.295449 [ NCBI ]
CGAP (NCI)Hs.295449
Alternative Splicing GalleryENSG00000100362
Gene ExpressionPVALB [ NCBI-GEO ]   PVALB [ EBI - ARRAY_EXPRESS ]   PVALB [ SEEK ]   PVALB [ MEM ]
Gene Expression Viewer (FireBrowse)PVALB [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5816
GTEX Portal (Tissue expression)PVALB
Protein : pattern, domain, 3D structure
UniProt/SwissProtP20472   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP20472  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP20472
Splice isoforms : SwissVarP20472
PhosPhoSitePlusP20472
Domaine pattern : Prosite (Expaxy)EF_HAND_1 (PS00018)    EF_HAND_2 (PS50222)   
Domains : Interpro (EBI)EF-hand-dom_pair    EF_Hand_1_Ca_BS    EF_hand_dom    Parvalbumin   
Domain families : Pfam (Sanger)EF-hand_7 (PF13499)   
Domain families : Pfam (NCBI)pfam13499   
Domain families : Smart (EMBL)EFh (SM00054)  
Conserved Domain (NCBI)PVALB
DMDM Disease mutations5816
Blocks (Seattle)PVALB
PDB (SRS)1RJV    1RK9   
PDB (PDBSum)1RJV    1RK9   
PDB (IMB)1RJV    1RK9   
PDB (RSDB)1RJV    1RK9   
Structural Biology KnowledgeBase1RJV    1RK9   
SCOP (Structural Classification of Proteins)1RJV    1RK9   
CATH (Classification of proteins structures)1RJV    1RK9   
SuperfamilyP20472
Human Protein AtlasENSG00000100362
Peptide AtlasP20472
HPRD01353
IPIIPI00219703   IPI00877795   IPI00879846   IPI00879935   
Protein Interaction databases
DIP (DOE-UCLA)P20472
IntAct (EBI)P20472
FunCoupENSG00000100362
BioGRIDPVALB
STRING (EMBL)PVALB
ZODIACPVALB
Ontologies - Pathways
QuickGOP20472
Ontology : AmiGOcalcium ion binding  nucleus  cytoplasm  protein homodimerization activity  neuronal cell body  terminal bouton  protein complex  protein heterodimerization activity  regulation of cytosolic calcium ion concentration  extracellular exosome  
Ontology : EGO-EBIcalcium ion binding  nucleus  cytoplasm  protein homodimerization activity  neuronal cell body  terminal bouton  protein complex  protein heterodimerization activity  regulation of cytosolic calcium ion concentration  extracellular exosome  
NDEx NetworkPVALB
Atlas of Cancer Signalling NetworkPVALB
Wikipedia pathwaysPVALB
Orthology - Evolution
OrthoDB5816
GeneTree (enSembl)ENSG00000100362
Phylogenetic Trees/Animal Genes : TreeFamPVALB
HOVERGENP20472
HOGENOMP20472
Homologs : HomoloGenePVALB
Homology/Alignments : Family Browser (UCSC)PVALB
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPVALB [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PVALB
dbVarPVALB
ClinVarPVALB
1000_GenomesPVALB 
Exome Variant ServerPVALB
ExAC (Exome Aggregation Consortium)PVALB (select the gene name)
Genetic variants : HAPMAP5816
Genomic Variants (DGV)PVALB [DGVbeta]
DECIPHERPVALB [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPVALB 
Mutations
ICGC Data PortalPVALB 
TCGA Data PortalPVALB 
Broad Tumor PortalPVALB
OASIS PortalPVALB [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPVALB  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPVALB
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch PVALB
DgiDB (Drug Gene Interaction Database)PVALB
DoCM (Curated mutations)PVALB (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PVALB (select a term)
intoGenPVALB
Cancer3DPVALB(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM168890   
Orphanet
MedgenPVALB
Genetic Testing Registry PVALB
NextProtP20472 [Medical]
TSGene5816
GENETestsPVALB
Target ValidationPVALB
Huge Navigator PVALB [HugePedia]
snp3D : Map Gene to Disease5816
BioCentury BCIQPVALB
ClinGenPVALB
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5816
Chemical/Pharm GKB GenePA34049
Clinical trialPVALB
Miscellaneous
canSAR (ICR)PVALB (select the gene name)
Probes
Litterature
PubMed35 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePVALB
EVEXPVALB
GoPubMedPVALB
iHOPPVALB
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed May 31 15:37:55 CEST 2017

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