Atlas of Genetics and Cytogenetics in Oncology and Haematology


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HVCN1 (hydrogen voltage gated channel 1)

Identity

Alias_nameshydrogen voltage-gated channel 1
Alias_symbol (synonym)MGC15619
Hv1
VSOP
Other aliasHV1
HGNC (Hugo) HVCN1
LocusID (NCBI) 84329
Atlas_Id 52468
Location 12q24.11  [Link to chromosome band 12q24]
Location_base_pair Starts at 110648686 and ends at 110689812 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CCT3 (1q22) / HVCN1 (12q24.11)PPTC7 (12q24.11) / HVCN1 (12q24.11)PPTC7 12q24.11 / HVCN1 12q24.11

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)HVCN1   28240
Cards
Entrez_Gene (NCBI)HVCN1  84329  hydrogen voltage gated channel 1
AliasesHV1; VSOP
GeneCards (Weizmann)HVCN1
Ensembl hg19 (Hinxton)ENSG00000122986 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000122986 [Gene_View]  chr12:110648686-110689812 [Contig_View]  HVCN1 [Vega]
ICGC DataPortalENSG00000122986
TCGA cBioPortalHVCN1
AceView (NCBI)HVCN1
Genatlas (Paris)HVCN1
WikiGenes84329
SOURCE (Princeton)HVCN1
Genetics Home Reference (NIH)HVCN1
Genomic and cartography
GoldenPath hg38 (UCSC)HVCN1  -     chr12:110648686-110689812 -  12q24.11   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)HVCN1  -     12q24.11   [Description]    (hg19-Feb_2009)
EnsemblHVCN1 - 12q24.11 [CytoView hg19]  HVCN1 - 12q24.11 [CytoView hg38]
Mapping of homologs : NCBIHVCN1 [Mapview hg19]  HVCN1 [Mapview hg38]
OMIM611227   
Gene and transcription
Genbank (Entrez)AK293543 AY359054 BC007277 BC009731 BC032672
RefSeq transcript (Entrez)NM_001040107 NM_001256413 NM_032369
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)HVCN1
Cluster EST : UnigeneHs.334637 [ NCBI ]
CGAP (NCI)Hs.334637
Alternative Splicing GalleryENSG00000122986
Gene ExpressionHVCN1 [ NCBI-GEO ]   HVCN1 [ EBI - ARRAY_EXPRESS ]   HVCN1 [ SEEK ]   HVCN1 [ MEM ]
Gene Expression Viewer (FireBrowse)HVCN1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)84329
GTEX Portal (Tissue expression)HVCN1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96D96   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96D96  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96D96
Splice isoforms : SwissVarQ96D96
PhosPhoSitePlusQ96D96
Domains : Interpro (EBI)Channel_four-helix_dom    Ion_trans_dom    VGPC1_C   
Domain families : Pfam (Sanger)Ion_trans (PF00520)    VGPC1_C (PF16799)   
Domain families : Pfam (NCBI)pfam00520    pfam16799   
Conserved Domain (NCBI)HVCN1
DMDM Disease mutations84329
Blocks (Seattle)HVCN1
PDB (SRS)3A2A   
PDB (PDBSum)3A2A   
PDB (IMB)3A2A   
PDB (RSDB)3A2A   
Structural Biology KnowledgeBase3A2A   
SCOP (Structural Classification of Proteins)3A2A   
CATH (Classification of proteins structures)3A2A   
SuperfamilyQ96D96
Human Protein AtlasENSG00000122986
Peptide AtlasQ96D96
HPRD17507
IPIIPI00153005   IPI00478137   IPI00872288   IPI01013490   IPI01021293   IPI01021142   IPI01021712   
Protein Interaction databases
DIP (DOE-UCLA)Q96D96
IntAct (EBI)Q96D96
FunCoupENSG00000122986
BioGRIDHVCN1
STRING (EMBL)HVCN1
ZODIACHVCN1
Ontologies - Pathways
QuickGOQ96D96
Ontology : AmiGOplasma membrane  integral component of plasma membrane  response to pH  response to zinc ion  response to zinc ion  proton transport  proton transport  integral component of membrane  voltage-gated cation channel activity  voltage-gated proton channel activity  voltage-gated proton channel activity  secretory granule membrane  ion transmembrane transport  regulation of ion transmembrane transport  sperm-egg recognition  specific granule membrane  neutrophil degranulation  cellular response to zinc ion  cellular response to pH  
Ontology : EGO-EBIplasma membrane  integral component of plasma membrane  response to pH  response to zinc ion  response to zinc ion  proton transport  proton transport  integral component of membrane  voltage-gated cation channel activity  voltage-gated proton channel activity  voltage-gated proton channel activity  secretory granule membrane  ion transmembrane transport  regulation of ion transmembrane transport  sperm-egg recognition  specific granule membrane  neutrophil degranulation  cellular response to zinc ion  cellular response to pH  
NDEx NetworkHVCN1
Atlas of Cancer Signalling NetworkHVCN1
Wikipedia pathwaysHVCN1
Orthology - Evolution
OrthoDB84329
GeneTree (enSembl)ENSG00000122986
Phylogenetic Trees/Animal Genes : TreeFamHVCN1
HOVERGENQ96D96
HOGENOMQ96D96
Homologs : HomoloGeneHVCN1
Homology/Alignments : Family Browser (UCSC)HVCN1
Gene fusions - Rearrangements
Fusion : MitelmanPPTC7/HVCN1 [12q24.11/12q24.11]  [t(12;12)(q24;q24)]  
Fusion: TCGAPPTC7 12q24.11 HVCN1 12q24.11 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHVCN1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HVCN1
dbVarHVCN1
ClinVarHVCN1
1000_GenomesHVCN1 
Exome Variant ServerHVCN1
ExAC (Exome Aggregation Consortium)HVCN1 (select the gene name)
Genetic variants : HAPMAP84329
Genomic Variants (DGV)HVCN1 [DGVbeta]
DECIPHERHVCN1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisHVCN1 
Mutations
ICGC Data PortalHVCN1 
TCGA Data PortalHVCN1 
Broad Tumor PortalHVCN1
OASIS PortalHVCN1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICHVCN1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDHVCN1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch HVCN1
DgiDB (Drug Gene Interaction Database)HVCN1
DoCM (Curated mutations)HVCN1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HVCN1 (select a term)
intoGenHVCN1
Cancer3DHVCN1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM611227   
Orphanet
MedgenHVCN1
Genetic Testing Registry HVCN1
NextProtQ96D96 [Medical]
TSGene84329
GENETestsHVCN1
Target ValidationHVCN1
Huge Navigator HVCN1 [HugePedia]
snp3D : Map Gene to Disease84329
BioCentury BCIQHVCN1
ClinGenHVCN1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD84329
Chemical/Pharm GKB GenePA144596422
Clinical trialHVCN1
Miscellaneous
canSAR (ICR)HVCN1 (select the gene name)
Probes
Litterature
PubMed43 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHVCN1
EVEXHVCN1
GoPubMedHVCN1
iHOPHVCN1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Aug 1 17:03:35 CEST 2017

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