Atlas of Genetics and Cytogenetics in Oncology and Haematology


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HPCA (hippocalcin)

Identity

Other aliasBDR2
DYT2
HGNC (Hugo) HPCA
LocusID (NCBI) 3208
Atlas_Id 64410
Location 1p35.1  [Link to chromosome band 1p35]
Location_base_pair Starts at 32886497 and ends at 32894646 bp from pter ( according to hg38-Dec_2013)

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)HPCA   5144
Cards
Entrez_Gene (NCBI)HPCA  3208  hippocalcin
AliasesBDR2; DYT2
GeneCards (Weizmann)HPCA
Ensembl hg19 (Hinxton)ENSG00000121905 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000121905 [Gene_View]  chr1:32886497-32894646 [Contig_View]  HPCA [Vega]
ICGC DataPortalENSG00000121905
TCGA cBioPortalHPCA
AceView (NCBI)HPCA
Genatlas (Paris)HPCA
WikiGenes3208
SOURCE (Princeton)HPCA
Genetics Home Reference (NIH)HPCA
Genomic and cartography
GoldenPath hg38 (UCSC)HPCA  -     chr1:32886497-32894646 +  1p35.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)HPCA  -     1p35.1   [Description]    (hg19-Feb_2009)
EnsemblHPCA - 1p35.1 [CytoView hg19]  HPCA - 1p35.1 [CytoView hg38]
Mapping of homologs : NCBIHPCA [Mapview hg19]  HPCA [Mapview hg38]
OMIM142622   224500   
Gene and transcription
Genbank (Entrez)AK313907 BC001777 BT019750 BT019789 D16593
RefSeq transcript (Entrez)NM_002143
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)HPCA
Cluster EST : UnigeneHs.632391 [ NCBI ]
CGAP (NCI)Hs.632391
Alternative Splicing GalleryENSG00000121905
Gene ExpressionHPCA [ NCBI-GEO ]   HPCA [ EBI - ARRAY_EXPRESS ]   HPCA [ SEEK ]   HPCA [ MEM ]
Gene Expression Viewer (FireBrowse)HPCA [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3208
GTEX Portal (Tissue expression)HPCA
Protein : pattern, domain, 3D structure
UniProt/SwissProtP84074   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP84074  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP84074
Splice isoforms : SwissVarP84074
PhosPhoSitePlusP84074
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   
Domain families : Pfam (Sanger)EF-hand_1 (PF00036)    EF-hand_7 (PF13499)   
Domain families : Pfam (NCBI)pfam00036    pfam13499   
Domain families : Smart (EMBL)EFh (SM00054)  
Conserved Domain (NCBI)HPCA
DMDM Disease mutations3208
Blocks (Seattle)HPCA
SuperfamilyP84074
Human Protein AtlasENSG00000121905
Peptide AtlasP84074
HPRD00811
IPIIPI00219103   
Protein Interaction databases
DIP (DOE-UCLA)P84074
IntAct (EBI)P84074
FunCoupENSG00000121905
BioGRIDHPCA
STRING (EMBL)HPCA
ZODIACHPCA
Ontologies - Pathways
QuickGOP84074
Ontology : AmiGOactin binding  calcium ion binding  brain development  calcium-mediated signaling  kinase binding  axon  negative regulation of guanylate cyclase activity  activation of phospholipase D activity  dendrite membrane  neuronal cell body membrane  dendrite cytoplasm  perikaryon  dendritic spine head  positive regulation of adenylate cyclase activity  inner ear development  retina development in camera-type eye  cellular response to electrical stimulus  positive regulation of protein targeting to membrane  response to ketamine  response to L-glutamate  cellular response to monosodium glutamate  response to Aroclor 1254  
Ontology : EGO-EBIactin binding  calcium ion binding  brain development  calcium-mediated signaling  kinase binding  axon  negative regulation of guanylate cyclase activity  activation of phospholipase D activity  dendrite membrane  neuronal cell body membrane  dendrite cytoplasm  perikaryon  dendritic spine head  positive regulation of adenylate cyclase activity  inner ear development  retina development in camera-type eye  cellular response to electrical stimulus  positive regulation of protein targeting to membrane  response to ketamine  response to L-glutamate  cellular response to monosodium glutamate  response to Aroclor 1254  
NDEx NetworkHPCA
Atlas of Cancer Signalling NetworkHPCA
Wikipedia pathwaysHPCA
Orthology - Evolution
OrthoDB3208
GeneTree (enSembl)ENSG00000121905
Phylogenetic Trees/Animal Genes : TreeFamHPCA
HOVERGENP84074
HOGENOMP84074
Homologs : HomoloGeneHPCA
Homology/Alignments : Family Browser (UCSC)HPCA
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHPCA [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HPCA
dbVarHPCA
ClinVarHPCA
1000_GenomesHPCA 
Exome Variant ServerHPCA
ExAC (Exome Aggregation Consortium)HPCA (select the gene name)
Genetic variants : HAPMAP3208
Genomic Variants (DGV)HPCA [DGVbeta]
DECIPHERHPCA [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisHPCA 
Mutations
ICGC Data PortalHPCA 
TCGA Data PortalHPCA 
Broad Tumor PortalHPCA
OASIS PortalHPCA [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICHPCA  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDHPCA
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 HPCA
DgiDB (Drug Gene Interaction Database)HPCA
DoCM (Curated mutations)HPCA (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HPCA (select a term)
intoGenHPCA
Cancer3DHPCA(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM142622    224500   
Orphanet14230   
MedgenHPCA
Genetic Testing Registry HPCA
NextProtP84074 [Medical]
TSGene3208
GENETestsHPCA
Target ValidationHPCA
Huge Navigator HPCA [HugePedia]
snp3D : Map Gene to Disease3208
BioCentury BCIQHPCA
ClinGenHPCA
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3208
Chemical/Pharm GKB GenePA29417
Clinical trialHPCA
Miscellaneous
canSAR (ICR)HPCA (select the gene name)
Probes
Litterature
PubMed21 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHPCA
EVEXHPCA
GoPubMedHPCA
iHOPHPCA
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 15:52:45 CEST 2017

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