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Aliases for ATP12A Gene

Aliases for ATP12A Gene

  • ATPase H+/K+ Transporting Non-Gastric Alpha2 Subunit 2 3 5
  • ATPase, H+/K+ Transporting, Nongastric, Alpha Polypeptide 2 3
  • ATPase, Na+/K+ Transporting, Alpha Polypeptide-Like 1 2 3
  • Potassium-Transporting ATPase Alpha Chain 2 2 3
  • Proton Pump 2 4
  • ATP1AL1 3 4
  • ATPase, Na+K+ Transporting, Alpha-1 Polypeptide-Like 2
  • Sodium/Potassium ATPase, Alpha Polypeptide-Like 2
  • Non-Gastric H(+)/K(+) ATPase Subunit Alpha 4
  • Non-Gastric H(+)/K(+) ATPase Alpha Subunit 2
  • EC 3.6.3.10 4
  • HK 3

External Ids for ATP12A Gene

Previous HGNC Symbols for ATP12A Gene

  • ATP1AL1

Previous GeneCards Identifiers for ATP12A Gene

  • GC13P023234
  • GC13P019234
  • GC13P024184
  • GC13P023052
  • GC13P024152
  • GC13P025254
  • GC13P006067

Summaries for ATP12A Gene

Entrez Gene Summary for ATP12A Gene

  • The protein encoded by this gene belongs to the family of P-type cation transport ATPases. This gene encodes a catalytic subunit of the ouabain-sensitive H+/K+ -ATPase that catalyzes the hydrolysis of ATP coupled with the exchange of H(+) and K(+) ions across the plasma membrane. It is also responsible for potassium absorption in various tissues. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]

GeneCards Summary for ATP12A Gene

ATP12A (ATPase H+/K+ Transporting Non-Gastric Alpha2 Subunit) is a Protein Coding gene. Diseases associated with ATP12A include Esophageal Disease and Peptic Esophagitis. Among its related pathways are Cardiac conduction and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Gene Ontology (GO) annotations related to this gene include nucleotide binding and potassium:proton exchanging ATPase activity. An important paralog of this gene is ATP1A1.

UniProtKB/Swiss-Prot for ATP12A Gene

  • Catalyzes the hydrolysis of ATP coupled with the exchange of H(+) and K(+) ions across the plasma membrane. Responsible for potassium absorption in various tissues.

Gene Wiki entry for ATP12A Gene

Additional gene information for ATP12A Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATP12A Gene

Genomics for ATP12A Gene

GeneHancer (GH) Regulatory Elements for ATP12A Gene

Promoters and enhancers for ATP12A Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH13J024680 Promoter/Enhancer 1.1 EPDnew Ensembl 668.7 +0.4 411 1.4 CTCF MXI1 SP2 E2F1 ZFHX2 GLIS2 POLR2A GLIS1 ZNF341 KLF9 ATP12A RNF17 PIR43036
GH13J024694 Enhancer 1 Ensembl ENCODE 18.4 +13.8 13766 0.4 GTF2F1 CTCF USF1 FOXA2 MLX MAX ZNF2 RAD21 ZNF507 ZNF335 ATP12A RNF17 GC13M024705 RNY1P7 PIR43036
GH13J024667 Enhancer 1.1 Ensembl ENCODE dbSUPER 15.9 -10.1 -10067 5.1 CTCF KLF1 PKNOX1 SIN3A EBF1 FEZF1 ZNF384 ZIC2 RAD21 EED ATP12A RNF17 PARP4 ENSG00000285228
GH13J024683 Enhancer 0.7 ENCODE 21.6 +3.6 3637 0.2 CTCF IRF4 RAD21 SMC3 ZNF143 ZNF444 RUNX3 CHD2 TRIM22 KLF4 ATP12A RNF17 PIR43036
GH13J024708 Enhancer 0.7 Ensembl ENCODE 18.9 +29.0 28990 1.2 ZNF366 ZNF512 EED EBF1 RUNX3 PRDM1 CREM ATP12A RNF17 RPL26P34 LOC105370118
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ATP12A on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ATP12A gene promoter:

Genomic Locations for ATP12A Gene

Genomic Locations for ATP12A Gene
chr13:24,680,411-24,712,493
(GRCh38/hg38)
Size:
32,083 bases
Orientation:
Plus strand
chr13:25,254,549-25,285,923
(GRCh37/hg19)

Genomic View for ATP12A Gene

Genes around ATP12A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATP12A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATP12A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATP12A Gene

Proteins for ATP12A Gene

  • Protein details for ATP12A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P54707-AT12A_HUMAN
    Recommended name:
    Potassium-transporting ATPase alpha chain 2
    Protein Accession:
    P54707
    Secondary Accessions:
    • Q13816
    • Q13817
    • Q16734
    • Q5W035
    • Q8N5U2

    Protein attributes for ATP12A Gene

    Size:
    1039 amino acids
    Molecular mass:
    115511 Da
    Quaternary structure:
    • Composed of two subunits: alpha (catalytic) and beta.

    Alternative splice isoforms for ATP12A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ATP12A Gene

Post-translational modifications for ATP12A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ATP12A Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ATP12A Gene

Domains & Families for ATP12A Gene

Gene Families for ATP12A Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted membrane proteins
  • Transporters

Suggested Antigen Peptide Sequences for ATP12A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P54707

UniProtKB/Swiss-Prot:

AT12A_HUMAN :
  • Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIC subfamily.
Family:
  • Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIC subfamily.
genes like me logo Genes that share domains with ATP12A: view

Function for ATP12A Gene

Molecular function for ATP12A Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the hydrolysis of ATP coupled with the exchange of H(+) and K(+) ions across the plasma membrane. Responsible for potassium absorption in various tissues.
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + H(2)O + H(+)(In) + K(+)(Out) = ADP + phosphate + H(+)(Out) + K(+)(In).

Enzyme Numbers (IUBMB) for ATP12A Gene

Phenotypes From GWAS Catalog for ATP12A Gene

Gene Ontology (GO) - Molecular Function for ATP12A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005391 sodium:potassium-exchanging ATPase activity IEA --
GO:0005524 ATP binding IEA --
GO:0008900 potassium:proton exchanging ATPase activity IEA --
GO:0016787 hydrolase activity IEA --
GO:0019829 cation-transporting ATPase activity IEA --
genes like me logo Genes that share ontologies with ATP12A: view
genes like me logo Genes that share phenotypes with ATP12A: view

Animal Models for ATP12A Gene

MGI Knock Outs for ATP12A:

Animal Model Products

  • Taconic Biosciences Mouse Models for ATP12A

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATP12A

Clone Products

No data available for Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for ATP12A Gene

Localization for ATP12A Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATP12A Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ATP12A gene
Compartment Confidence
plasma membrane 5
lysosome 3
extracellular 2
mitochondrion 2
endoplasmic reticulum 2
cytosol 2
golgi apparatus 2
endosome 2
cytoskeleton 1
nucleus 1

Gene Ontology (GO) - Cellular Components for ATP12A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005889 potassium:proton exchanging ATPase complex TAS 8838794
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0016323 basolateral plasma membrane IEA --
genes like me logo Genes that share ontologies with ATP12A: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ATP12A Gene

Pathways & Interactions for ATP12A Gene

genes like me logo Genes that share pathways with ATP12A: view

Pathways by source for ATP12A Gene

Gene Ontology (GO) - Biological Process for ATP12A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006813 potassium ion transport IEA --
GO:0006814 sodium ion transport IEA --
GO:0006883 cellular sodium ion homeostasis IBA --
GO:0006885 regulation of pH IEA --
genes like me logo Genes that share ontologies with ATP12A: view

No data available for SIGNOR curated interactions for ATP12A Gene

Drugs & Compounds for ATP12A Gene

(6) Drugs for ATP12A Gene - From: ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Potassium Approved, Investigational Pharma 0
Lansoprazole Approved, Investigational Pharma H+,K+-ATPase inhibitor 225
Pantoprazole Approved Pharma H+/K+-ATPase inhibitor 181
Water Approved Pharma 0
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Potentiation, Pore Blocker 0

(3) Additional Compounds for ATP12A Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 58-64-0
Phosphate
  • [po(OH)3]
  • Acide phosphorique
  • Acidum phosphoricum
  • H3PO4
  • Orthophosphoric acid
14265-44-2

(1) ApexBio Compounds for ATP12A Gene

Compound Action Cas Number
Lansoprazole H+,K+-ATPase inhibitor 103577-45-3
genes like me logo Genes that share compounds with ATP12A: view

Drug Products

Transcripts for ATP12A Gene

mRNA/cDNA for ATP12A Gene

(16) Selected AceView cDNA sequences:
(5) Additional mRNA sequences :
(2) REFSEQ mRNAs :
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ATP12A Gene

ATPase, H+/K+ transporting, nongastric, alpha polypeptide:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATP12A

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ATP12A Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24a ·
SP1: - -
SP2: -
SP3:

ExUns: 24b
SP1:
SP2:
SP3:

Relevant External Links for ATP12A Gene

GeneLoc Exon Structure for
ATP12A
ECgene alternative splicing isoforms for
ATP12A

Expression for ATP12A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ATP12A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ATP12A Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x15.7), Esophagus - Mucosa (x10.5), Skin - Sun Exposed (Lower leg) (x7.4), and Kidney - Cortex (x6.8).

Protein differential expression in normal tissues from HIPED for ATP12A Gene

This gene is overexpressed in Brain (18.4) and Nasal epithelium (13.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ATP12A Gene



NURSA nuclear receptor signaling pathways regulating expression of ATP12A Gene:

ATP12A

SOURCE GeneReport for Unigene cluster for ATP12A Gene:

Hs.147111

mRNA Expression by UniProt/SwissProt for ATP12A Gene:

P54707-AT12A_HUMAN
Tissue specificity: Found in skin and kidney. Detected in prostate basal cells (at protein level). Expression is increased in benign prostate hyperplasia and tumor tissues (at protein level).

Evidence on tissue expression from TISSUES for ATP12A Gene

  • Kidney(4.5)
  • Liver(4.5)
  • Skin(4.4)
  • Nervous system(4.4)
  • Stomach(3.6)
  • Intestine(3.1)
  • Blood(2.9)
  • Heart(2.1)
genes like me logo Genes that share expression patterns with ATP12A: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for ATP12A Gene

Orthologs for ATP12A Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ATP12A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ATP12A 34 33
  • 99.46 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ATP12A 34 33
  • 88.09 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ATP12A 34
  • 87 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ATP12A 34 33
  • 86.21 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Atp12a 16 34 33
  • 85.15 (n)
rat
(Rattus norvegicus)
Mammalia Atp12a 33
  • 84.68 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 84 (a)
OneToMany
-- 34
  • 79 (a)
OneToMany
-- 34
  • 78 (a)
OneToMany
chicken
(Gallus gallus)
Aves ATP12A 34 33
  • 76.51 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ATP12A 34
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia atp12a 33
  • 64.81 (n)
zebrafish
(Danio rerio)
Actinopterygii atp1a1a.3 34
  • 61 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta Atpalpha 34 35
  • 62 (a)
OneToMany
CG17923 35
  • 54 (a)
CG3701 35
  • 29 (a)
worm
(Caenorhabditis elegans)
Secernentea eat-6 34 35
  • 60 (a)
OneToMany
C02E7.1 35
  • 36 (a)
Y105E8A.12 35
  • 31 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ENA1 34
  • 26 (a)
ManyToMany
ENA2 34
  • 26 (a)
ManyToMany
ENA5 34
  • 26 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 55 (a)
OneToMany
Species where no ortholog for ATP12A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ATP12A Gene

ENSEMBL:
Gene Tree for ATP12A (if available)
TreeFam:
Gene Tree for ATP12A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ATP12A: view image

Paralogs for ATP12A Gene

(6) SIMAP similar genes for ATP12A Gene using alignment to 1 proteins:

  • AT12A_HUMAN

Pseudogenes.org Pseudogenes for ATP12A Gene

genes like me logo Genes that share paralogs with ATP12A: view

Variants for ATP12A Gene

Sequence variations from dbSNP and Humsavar for ATP12A Gene

SNP ID Clin Chr 13 pos Variation AA Info Type
rs1000101357 -- 24,691,098(+) T/C coding_sequence_variant, missense_variant
rs1000246867 -- 24,678,590(+) C/T upstream_transcript_variant
rs1000275138 -- 24,707,831(+) A/G intron_variant
rs1000534004 -- 24,686,851(+) G/A intron_variant
rs1000695486 -- 24,692,188(+) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ATP12A Gene

Variant ID Type Subtype PubMed ID
dgv1621n100 CNV gain 25217958
dgv3093n54 CNV gain 21841781
dgv931n106 CNV deletion 24896259
esv1009925 CNV deletion 20482838
esv1956864 CNV deletion 18987734
esv2499767 CNV deletion 19546169
esv2751140 CNV gain 17911159
esv3250052 CNV deletion 24192839
esv3410762 CNV duplication 20981092
esv3452 CNV loss 18987735
esv3550194 CNV deletion 23714750
esv8208 CNV loss 19470904
nsv1070160 CNV deletion 25765185
nsv1116459 OTHER inversion 24896259
nsv1153497 OTHER inversion 26484159
nsv1153857 CNV deletion 26484159
nsv455843 CNV gain 19166990
nsv471124 CNV gain 18288195
nsv528064 CNV loss 19592680
nsv561345 CNV gain 21841781
nsv561348 CNV gain 21841781
nsv832568 CNV gain 17160897

Variation tolerance for ATP12A Gene

Residual Variation Intolerance Score: 50.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.79; 66.85% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ATP12A Gene

Human Gene Mutation Database (HGMD)
ATP12A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATP12A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATP12A Gene

Disorders for ATP12A Gene

MalaCards: The human disease database

(60) MalaCards diseases for ATP12A Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
esophageal disease
  • esophageal ulcer
peptic esophagitis
  • peptic reflux disease
hernia, hiatus
  • hiatal hernia
active peptic ulcer disease
  • gi bleeding
laryngeal disease
  • laryngeal diseases
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ATP12A

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ATP12A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ATP12A Gene

Publications for ATP12A Gene

  1. Genomic organization of the human ATP1AL1 gene encoding a ouabain-sensitive H,K-ATPase. (PMID: 8838794) Sverdlov VE … Modyanov NN (Genomics 1996) 2 3 4 22 58
  2. Ouabain-sensitive H,K-ATPase: tissue-specific expression of the mammalian genes encoding the catalytic alpha subunit. (PMID: 9872395) Pestov NB … Modyanov NN (FEBS letters 1998) 3 4 22 58
  3. Cloning and characterization of the entire cDNA encoded by ATP1AL1--a member of the human Na,K/H,K-ATPase gene family. (PMID: 8045293) Grishin AV … Modyanov NN (FEBS letters 1994) 3 4 22 58
  4. The family of human Na,K-ATPase genes. ATP1AL1 gene is transcriptionally competent and probably encodes the related ion transport ATPase. (PMID: 1847115) Modyanov NN … Sverdlov ED (FEBS letters 1991) 3 4 22 58
  5. The putative role of the non-gastric H⁺/K⁺-ATPase ATP12A (ATP1AL1) as anti-apoptotic ion transporter: effect of the H⁺/K⁺ ATPase inhibitor SCH28080 on butyrate-stimulated myelomonocytic HL-60 cells. (PMID: 25322912) Jakab M … Ritter M (Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology 2014) 2 3 58

Products for ATP12A Gene

Sources for ATP12A Gene

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