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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
  • EC 3.6.3.10 4 61
  • ATP1AL1 3 4
  • ATPase, Na+K+ Transporting, Alpha-1 Polypeptide-Like 2
  • Sodium/Potassium ATPase, Alpha Polypeptide-Like 2
  • Non-Gastric H(+)/K(+) ATPase Alpha Subunit 2
  • Non-Gastric H(+)/K(+) ATPase Subunit Alpha 4
  • EC 3.6.3 61
  • 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 Bladder Calculus and Gastroduodenal Crohn's Disease. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Ion channel transport. GO annotations related to this gene include nucleotide binding and hydrogen:potassium-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

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

Genomics for ATP12A Gene

Regulatory Elements for ATP12A Gene

Enhancers for ATP12A Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH13G024667 1.2 Ensembl ENCODE dbSUPER 15.9 -10.1 -10068 5.1 CTCF PKNOX1 KLF1 FEZF1 ZNF384 ZIC2 RAD21 EED ZNF143 SMC3 ATP12A RNF17 PARP4 GC13P024570
GH13G024694 1 Ensembl ENCODE 18.5 +13.8 13766 0.4 GTF2F1 CTCF FOXA2 USF1 MLX MAX ZNF2 RAD21 GATA3 ZNF207 ATP12A RNF17 GC13M024705 RNY1P7 PIR43036
GH13G024708 0.8 Ensembl ENCODE 19 +29.0 28990 1.2 ZNF366 EED ZNF512 PRDM1 CREM ATP12A RNF17 RPL26P34 LOC105370118
GH13G024683 0.7 ENCODE 21.6 +3.6 3637 0.2 CTCF TRIM22 RBBP5 KLF4 RAD21 ZNF143 SMC3 KLF9 KDM1A SMAD4 ATP12A RNF17 PIR43036
GH13G024680 0.7 Ensembl 18.7 +0.4 412 1.4 CTCF MXI1 ZNF76 RBBP5 E2F1 ZFHX2 GLIS2 POLR2A EZH2 MAZ ATP12A RNF17 PIR43036
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ATP12A on UCSC Golden Path with GeneCards custom track

Genomic Location for ATP12A Gene

Chromosome:
13
Start:
24,680,411 bp from pter
End:
24,712,493 bp from pter
Size:
32,083 bases
Orientation:
Plus strand

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

Selected DME Specific Peptides for ATP12A Gene

P54707:
  • AVETLGS
  • KGGDQIPADIR
  • SSLTGES
  • FTHENPLET
  • DIMNRKPR
  • NIAVEQVNK
  • QGLFRNKVIWVGI
  • LEWTGYTAFFV
  • VMKGAPERILEKCSTIMI
  • SIVTGVEEGRLIFDNLKK
  • DSYGQEWT
  • AYMELGG
  • EIPFNSTNKFQLSIH
  • GGFSILLW
  • DMVLLDDNFA
  • DKTGTLT
  • VMKGAPERIL
  • VFARTSPQQKL
  • CFVGLLSMIDPPRSTVPDAV
  • DDNFASI
  • TPIAIEIEHF
  • PFNSTNK
  • LAYEKAESDIM
  • IIVANVPEGLLATVTV
  • ADIGIAMG
  • LTAKRMA
  • TALLKFSE
  • FYSTTCLEGT
  • SMIDPPR
  • TGDHPITA
  • QYWFVAVPHAILIWVYDE
  • LGGLGERVLGFC
  • VAVTGDGVNDSPALKKADIG
  • KVAEIPFN
  • KNCLVKNLEAV
  • EIEHFVHIVAGVAVS
  • KCRSAGIKV

Post-translational modifications for ATP12A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ATP12A Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for ATP12A Gene

Gene Families for ATP12A Gene

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 CatalyticActivity:
ATP + H(2)O + H(+)(In) + K(+)(Out) = ADP + phosphate + H(+)(Out) + K(+)(In).
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.

Enzyme Numbers (IUBMB) 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 hydrogen:potassium-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

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 hydrogen:potassium-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

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:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006813 potassium ion transport IEA --
GO:0006814 sodium ion transport IEA --
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 Pharma 0
Lansoprazole Approved, Investigational Pharma H+,K+-ATPase inhibitor 218
Pantoprazole Approved Pharma H+/K+-ATPase inhibitor 175
Water Approved Pharma 0
Adenosine triphosphate Approved Nutra 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
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

Transcripts for ATP12A Gene

mRNA/cDNA for ATP12A Gene

(2) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(16) Selected AceView cDNA sequences:
(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:

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, PaxDb, 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

Primer Products

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 35 34
  • 99.46 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ATP12A 35 34
  • 88.09 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ATP12A 35
  • 87 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ATP12A 34 35
  • 86.21 (n)
mouse
(Mus musculus)
Mammalia Atp12a 35 16 34
  • 85.15 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Atp12a 34
  • 84.68 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 84 (a)
OneToMany
-- 35
  • 79 (a)
OneToMany
-- 35
  • 78 (a)
OneToMany
chicken
(Gallus gallus)
Aves ATP12A 35 34
  • 76.51 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ATP12A 35
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia atp12a 34
  • 64.81 (n)
zebrafish
(Danio rerio)
Actinopterygii atp1a1a.3 35
  • 61 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta Atpalpha 36 35
  • 63 (a)
CG17923 36
  • 54 (a)
CG3701 36
  • 29 (a)
worm
(Caenorhabditis elegans)
Secernentea eat-6 36 35
  • 59 (a)
C02E7.1 36
  • 36 (a)
Y105E8A.12 36
  • 31 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ENA1 35
  • 26 (a)
ManyToMany
ENA2 35
  • 26 (a)
ManyToMany
ENA5 35
  • 26 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 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)

Paralogs for ATP12A Gene

Paralogs for ATP12A Gene

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

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 Sequence Context AA Info Type
rs1000101357 -- 24,691,098(+) AGCAC(C/T)TTGTT reference, missense
rs1000246867 -- 24,678,590(+) AACCA(C/T)GTCTC upstream-variant-2KB
rs1000275138 -- 24,707,831(+) GTGCC(A/G)CCACA intron-variant
rs1000534004 -- 24,686,851(+) ATCTC(A/G)CTAGT intron-variant
rs1000695486 -- 24,692,188(+) CAAGT(C/T)ATGAA 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)

Relevant External Links for ATP12A Gene

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

(38) MalaCards diseases for ATP12A Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
bladder calculus
  • urinary bladder calculi
gastroduodenal crohn's disease
  • upper gi crohn's disease
gastrointestinal neuroendocrine benign tumor
laryngeal disease
  • laryngeal diseases
chronic laryngitis
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for ATP12A

Genetic Association Database (GAD)
ATP12A
Human Genome Epidemiology (HuGE) Navigator
ATP12A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ATP12A
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 V.E. … Modyanov N.N. (Genomics 1996) 2 3 4 22 64
  2. Ouabain-sensitive H,K-ATPase: tissue-specific expression of the mammalian genes encoding the catalytic alpha subunit. (PMID: 9872395) Pestov N.B. … Modyanov N.N. (FEBS Lett. 1998) 3 4 22 64
  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 A.V. … Modyanov N.N. (FEBS Lett. 1994) 3 4 22 64
  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 N.N. … Sverdlov E.D. (FEBS Lett. 1991) 3 4 22 64
  5. The putative role of the non-gastric Ha8_/Ka8_-ATPase ATP12A (ATP1AL1) as anti-apoptotic ion transporter: effect of the Ha8_/Ka8_ ATPase inhibitor SCH28080 on butyrate-stimulated myelomonocytic HL-60 cells. (PMID: 25322912) Jakab M. … Ritter M. (Cell. Physiol. Biochem. 2014) 2 3 64

Products for ATP12A Gene

Sources for ATP12A Gene

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