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ATP12A (ATPase H+/K+ transporting non-gastric alpha2 subunit)

Identity

Alias_namesATP1AL1
ATPase, Na?? transporting, alpha polypeptide-like 1
ATPase, H?? transporting, nongastric, alpha polypeptide
Alias_symbol (synonym)HK
#945
2
Other alias
HGNC (Hugo) ATP12A
LocusID (NCBI) 479
Atlas_Id 46088
Location 13q12.12  [Link to chromosome band 13q12]
Location_base_pair Starts at 24680411 and ends at 24711785 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)
ATP12A (13q12.12) / ATP12A (13q12.12)

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)ATP12A   13816
Cards
Entrez_Gene (NCBI)ATP12A  479  ATPase H+/K+ transporting non-gastric alpha2 subunit
AliasesATP1AL1; HK
GeneCards (Weizmann)ATP12A
Ensembl hg19 (Hinxton)ENSG00000075673 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000075673 [Gene_View]  chr13:24680411-24711785 [Contig_View]  ATP12A [Vega]
ICGC DataPortalENSG00000075673
TCGA cBioPortalATP12A
AceView (NCBI)ATP12A
Genatlas (Paris)ATP12A
WikiGenes479
SOURCE (Princeton)ATP12A
Genetics Home Reference (NIH)ATP12A
Genomic and cartography
GoldenPath hg38 (UCSC)ATP12A  -     chr13:24680411-24711785 +  13q12.12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ATP12A  -     13q12.12   [Description]    (hg19-Feb_2009)
EnsemblATP12A - 13q12.12 [CytoView hg19]  ATP12A - 13q12.12 [CytoView hg38]
Mapping of homologs : NCBIATP12A [Mapview hg19]  ATP12A [Mapview hg38]
OMIM182360   
Gene and transcription
Genbank (Entrez)AK292968 AK303498 BC031609 CA450333 DB216724
RefSeq transcript (Entrez)NM_001185085 NM_001676
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ATP12A
Cluster EST : UnigeneHs.147111 [ NCBI ]
CGAP (NCI)Hs.147111
Alternative Splicing GalleryENSG00000075673
Gene ExpressionATP12A [ NCBI-GEO ]   ATP12A [ EBI - ARRAY_EXPRESS ]   ATP12A [ SEEK ]   ATP12A [ MEM ]
Gene Expression Viewer (FireBrowse)ATP12A [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)479
GTEX Portal (Tissue expression)ATP12A
Human Protein AtlasENSG00000075673-ATP12A [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP54707   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP54707  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP54707
Splice isoforms : SwissVarP54707
Catalytic activity : Enzyme3.6.3.10 [ Enzyme-Expasy ]   3.6.3.103.6.3.10 [ IntEnz-EBI ]   3.6.3.10 [ BRENDA ]   3.6.3.10 [ KEGG ]   
PhosPhoSitePlusP54707
Domaine pattern : Prosite (Expaxy)ATPASE_E1_E2 (PS00154)   
Domains : Interpro (EBI)Atp12a    ATPase_P-typ_cation-transptr_C    ATPase_P-typ_cation-transptr_N    ATPase_P-typ_cyto_domN    ATPase_P-typ_P_site    ATPase_P-typ_TM_dom    ATPase_P-typ_transduc_dom_A    HAD-like_dom    P-type_ATPase_IIC    P_typ_ATPase   
Domain families : Pfam (Sanger)Cation_ATPase_C (PF00689)    Cation_ATPase_N (PF00690)    E1-E2_ATPase (PF00122)   
Domain families : Pfam (NCBI)pfam00689    pfam00690    pfam00122   
Domain families : Smart (EMBL)Cation_ATPase_N (SM00831)  
Conserved Domain (NCBI)ATP12A
DMDM Disease mutations479
Blocks (Seattle)ATP12A
SuperfamilyP54707
Human Protein Atlas [tissue]ENSG00000075673-ATP12A [tissue]
Peptide AtlasP54707
HPRD01667
IPIIPI00872242   IPI00008161   
Protein Interaction databases
DIP (DOE-UCLA)P54707
IntAct (EBI)P54707
FunCoupENSG00000075673
BioGRIDATP12A
STRING (EMBL)ATP12A
ZODIACATP12A
Ontologies - Pathways
QuickGOP54707
Ontology : AmiGOsodium:potassium-exchanging ATPase activity  ATP binding  plasma membrane  hydrogen:potassium-exchanging ATPase complex  potassium ion transport  sodium ion transport  regulation of pH  hydrogen:potassium-exchanging ATPase activity  establishment or maintenance of transmembrane electrochemical gradient  basolateral plasma membrane  ion transmembrane transport  metal ion binding  potassium ion homeostasis  ATP hydrolysis coupled cation transmembrane transport  hydrogen ion transmembrane transport  
Ontology : EGO-EBIsodium:potassium-exchanging ATPase activity  ATP binding  plasma membrane  hydrogen:potassium-exchanging ATPase complex  potassium ion transport  sodium ion transport  regulation of pH  hydrogen:potassium-exchanging ATPase activity  establishment or maintenance of transmembrane electrochemical gradient  basolateral plasma membrane  ion transmembrane transport  metal ion binding  potassium ion homeostasis  ATP hydrolysis coupled cation transmembrane transport  hydrogen ion transmembrane transport  
Pathways : KEGGOxidative phosphorylation   
NDEx NetworkATP12A
Atlas of Cancer Signalling NetworkATP12A
Wikipedia pathwaysATP12A
Orthology - Evolution
OrthoDB479
GeneTree (enSembl)ENSG00000075673
Phylogenetic Trees/Animal Genes : TreeFamATP12A
HOVERGENP54707
HOGENOMP54707
Homologs : HomoloGeneATP12A
Homology/Alignments : Family Browser (UCSC)ATP12A
Gene fusions - Rearrangements
Tumor Fusion PortalATP12A
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerATP12A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ATP12A
dbVarATP12A
ClinVarATP12A
1000_GenomesATP12A 
Exome Variant ServerATP12A
ExAC (Exome Aggregation Consortium)ENSG00000075673
GNOMAD BrowserENSG00000075673
Genetic variants : HAPMAP479
Genomic Variants (DGV)ATP12A [DGVbeta]
DECIPHERATP12A [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisATP12A 
Mutations
ICGC Data PortalATP12A 
TCGA Data PortalATP12A 
Broad Tumor PortalATP12A
OASIS PortalATP12A [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICATP12A  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDATP12A
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 ATP12A
DgiDB (Drug Gene Interaction Database)ATP12A
DoCM (Curated mutations)ATP12A (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ATP12A (select a term)
intoGenATP12A
Cancer3DATP12A(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM182360   
Orphanet
DisGeNETATP12A
MedgenATP12A
Genetic Testing Registry ATP12A
NextProtP54707 [Medical]
TSGene479
GENETestsATP12A
Target ValidationATP12A
Huge Navigator ATP12A [HugePedia]
snp3D : Map Gene to Disease479
BioCentury BCIQATP12A
ClinGenATP12A
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD479
Chemical/Pharm GKB GenePA25104
Clinical trialATP12A
Miscellaneous
canSAR (ICR)ATP12A (select the gene name)
Probes
Litterature
PubMed28 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineATP12A
EVEXATP12A
GoPubMedATP12A
iHOPATP12A
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 21 14:04:09 CET 2017

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