Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

CACNA1H (calcium voltage-gated channel subunit alpha1 H)

Identity

Alias_namescalcium channel
Alias_symbol (synonym)Cav3.2
Other aliasCACNA1HB
ECA6
EIG6
HALD4
HGNC (Hugo) CACNA1H
LocusID (NCBI) 8912
Atlas_Id 43967
Location 16p13.3  [Link to chromosome band 16p13]
Location_base_pair Starts at 1153241 and ends at 1221772 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)
CACNA1H (16p13.3) / CACNA1H (16p13.3)CACNA1H (16p13.3) / COL6A2 (21q22.3)CACNA1H (16p13.3) / PLXNC1 (12q22)
MKL2 (16p13.12) / CACNA1H (16p13.3)UBE2I (16p13.3) / CACNA1H (16p13.3)MKL2 16p13.12 / CACNA1H 16p13.3
UBE2I 16p13.3 / CACNA1H 16p13.3

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

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]
  MKL2/CACNA1H (16p13)
UBE2I/CACNA1H (16p13)


External links

Nomenclature
HGNC (Hugo)CACNA1H   1395
Cards
Entrez_Gene (NCBI)CACNA1H  8912  calcium voltage-gated channel subunit alpha1 H
AliasesCACNA1HB; Cav3.2; ECA6; EIG6; 
HALD4
GeneCards (Weizmann)CACNA1H
Ensembl hg19 (Hinxton)ENSG00000196557 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000196557 [Gene_View]  ENSG00000196557 [Sequence]  chr16:1153241-1221772 [Contig_View]  CACNA1H [Vega]
ICGC DataPortalENSG00000196557
TCGA cBioPortalCACNA1H
AceView (NCBI)CACNA1H
Genatlas (Paris)CACNA1H
WikiGenes8912
SOURCE (Princeton)CACNA1H
Genetics Home Reference (NIH)CACNA1H
Genomic and cartography
GoldenPath hg38 (UCSC)CACNA1H  -     chr16:1153241-1221772 +  16p13.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CACNA1H  -     16p13.3   [Description]    (hg19-Feb_2009)
EnsemblCACNA1H - 16p13.3 [CytoView hg19]  CACNA1H - 16p13.3 [CytoView hg38]
Mapping of homologs : NCBICACNA1H [Mapview hg19]  CACNA1H [Mapview hg38]
OMIM607904   611942   617027   
Gene and transcription
Genbank (Entrez)AF051946 AF070604 AF073931 AJ420779 AK074965
RefSeq transcript (Entrez)NM_001005407 NM_021098
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CACNA1H
Cluster EST : UnigeneHs.459642 [ NCBI ]
CGAP (NCI)Hs.459642
Alternative Splicing GalleryENSG00000196557
Gene ExpressionCACNA1H [ NCBI-GEO ]   CACNA1H [ EBI - ARRAY_EXPRESS ]   CACNA1H [ SEEK ]   CACNA1H [ MEM ]
Gene Expression Viewer (FireBrowse)CACNA1H [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8912
GTEX Portal (Tissue expression)CACNA1H
Human Protein AtlasENSG00000196557-CACNA1H [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO95180   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO95180  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO95180
Splice isoforms : SwissVarO95180
PhosPhoSitePlusO95180
Domains : Interpro (EBI)Ion_trans_dom    VDCC_T_a1    Volt_channel_dom_sf   
Domain families : Pfam (Sanger)Ion_trans (PF00520)   
Domain families : Pfam (NCBI)pfam00520   
Conserved Domain (NCBI)CACNA1H
DMDM Disease mutations8912
Blocks (Seattle)CACNA1H
SuperfamilyO95180
Human Protein Atlas [tissue]ENSG00000196557-CACNA1H [tissue]
Peptide AtlasO95180
HPRD07442
IPIIPI00028915   IPI00288892   IPI00479798   
Protein Interaction databases
DIP (DOE-UCLA)O95180
IntAct (EBI)O95180
FunCoupENSG00000196557
BioGRIDCACNA1H
STRING (EMBL)CACNA1H
ZODIACCACNA1H
Ontologies - Pathways
QuickGOO95180
Ontology : AmiGOvoltage-gated ion channel activity  voltage-gated calcium channel activity  cation channel activity  protein binding  plasma membrane  integral component of plasma membrane  voltage-gated calcium channel complex  muscle contraction  muscle organ development  myoblast fusion  regulation of heart contraction  low voltage-gated calcium channel activity  low voltage-gated calcium channel activity  integral component of membrane  aldosterone biosynthetic process  cellular response to hormone stimulus  cortisol biosynthetic process  regulation of ion transmembrane transport  sodium ion transmembrane transport  cellular response to potassium ion  regulation of membrane potential  positive regulation of calcium ion-dependent exocytosis  metal ion binding  calcium ion import  calcium ion import  calcium ion transmembrane transport  membrane depolarization during action potential  scaffold protein binding  inorganic cation transmembrane transport  positive regulation of acrosome reaction  
Ontology : EGO-EBIvoltage-gated ion channel activity  voltage-gated calcium channel activity  cation channel activity  protein binding  plasma membrane  integral component of plasma membrane  voltage-gated calcium channel complex  muscle contraction  muscle organ development  myoblast fusion  regulation of heart contraction  low voltage-gated calcium channel activity  low voltage-gated calcium channel activity  integral component of membrane  aldosterone biosynthetic process  cellular response to hormone stimulus  cortisol biosynthetic process  regulation of ion transmembrane transport  sodium ion transmembrane transport  cellular response to potassium ion  regulation of membrane potential  positive regulation of calcium ion-dependent exocytosis  metal ion binding  calcium ion import  calcium ion import  calcium ion transmembrane transport  membrane depolarization during action potential  scaffold protein binding  inorganic cation transmembrane transport  positive regulation of acrosome reaction  
Pathways : KEGGMAPK signaling pathway    Calcium signaling pathway    Circadian entrainment   
NDEx NetworkCACNA1H
Atlas of Cancer Signalling NetworkCACNA1H
Wikipedia pathwaysCACNA1H
Orthology - Evolution
OrthoDB8912
GeneTree (enSembl)ENSG00000196557
Phylogenetic Trees/Animal Genes : TreeFamCACNA1H
HOVERGENO95180
HOGENOMO95180
Homologs : HomoloGeneCACNA1H
Homology/Alignments : Family Browser (UCSC)CACNA1H
Gene fusions - Rearrangements
Fusion : MitelmanMKL2/CACNA1H [16p13.12/16p13.3]  [t(16;16)(p13;p13)]  
Fusion : MitelmanUBE2I/CACNA1H [16p13.3/16p13.3]  [t(16;16)(p13;p13)]  
Fusion PortalMKL2 16p13.12 CACNA1H 16p13.3 BRCA
Fusion PortalUBE2I 16p13.3 CACNA1H 16p13.3 BRCA
Fusion : QuiverCACNA1H
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCACNA1H [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CACNA1H
dbVarCACNA1H
ClinVarCACNA1H
1000_GenomesCACNA1H 
Exome Variant ServerCACNA1H
ExAC (Exome Aggregation Consortium)ENSG00000196557
GNOMAD BrowserENSG00000196557
Varsome BrowserCACNA1H
Genetic variants : HAPMAP8912
Genomic Variants (DGV)CACNA1H [DGVbeta]
DECIPHERCACNA1H [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCACNA1H 
Mutations
ICGC Data PortalCACNA1H 
TCGA Data PortalCACNA1H 
Broad Tumor PortalCACNA1H
OASIS PortalCACNA1H [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCACNA1H  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCACNA1H
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 CACNA1H
DgiDB (Drug Gene Interaction Database)CACNA1H
DoCM (Curated mutations)CACNA1H (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CACNA1H (select a term)
intoGenCACNA1H
Cancer3DCACNA1H(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607904    611942    617027   
Orphanet10832   
DisGeNETCACNA1H
MedgenCACNA1H
Genetic Testing Registry CACNA1H
NextProtO95180 [Medical]
TSGene8912
GENETestsCACNA1H
Target ValidationCACNA1H
Huge Navigator CACNA1H [HugePedia]
snp3D : Map Gene to Disease8912
BioCentury BCIQCACNA1H
ClinGenCACNA1H
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD8912
Chemical/Pharm GKB GenePA380
Clinical trialCACNA1H
Miscellaneous
canSAR (ICR)CACNA1H (select the gene name)
Probes
Litterature
PubMed97 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCACNA1H
EVEXCACNA1H
GoPubMedCACNA1H
iHOPCACNA1H
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Aug 27 11:12:41 CEST 2018

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.