The protein encoded by this gene belongs to a family of P-type cation-transporting ATPases. The gastric H+, K+-ATPase is a heterodimer consisting of a high molecular weight catalytic alpha subunit and a smaller but heavily glycosylated beta subunit. This enzyme is a proton pump that catalyzes the hydrolysis of ATP coupled with the exchange of H(+) and K(+) ions across the plasm... See more...

Aliases for ATP4A Gene

Aliases for ATP4A Gene

  • ATPase H+/K+ Transporting Subunit Alpha 2 3 5
  • Proton Pump 2 3 4
  • Potassium-Transporting ATPase Alpha Chain 1 3 4
  • ATPase, H+/K+ Exchanging, Alpha Polypeptide 2 3
  • ATPase H+/K+ Transporting Alpha Subunit 2 3
  • ATPase, H+/K+ Transporting, Alpha Polypeptide 3
  • Epididymis Secretory Sperm Binding Protein 3
  • Gastric H(+)/K(+) ATPase Subunit Alpha 4
  • Gastric H,K-ATPase Catalytic Subunit 3
  • Gastric H+/K+ ATPase Alpha Subunit 3
  • Gastric Hydrogen-Potassium ATPase 3
  • Gastric H,K-ATPase Alpha Subunit 2
  • H(+)-K(+)-ATPase Alpha Subunit 2
  • EC 3.6.3.10 52
  • EC 7.2.2.19 4
  • EC 3.6.3 52
  • ATP6A 3

External Ids for ATP4A Gene

Previous GeneCards Identifiers for ATP4A Gene

  • GC19M036680
  • GC19M036489
  • GC19M040717
  • GC19M040732
  • GC19M036041
  • GC19M032546
  • GC19M036264
  • GC19M036540
  • GC19M037058
  • GC19M035768
  • GC19M035926
  • GC19M039022
  • GC19M039165
  • GC19M039723
  • GC19M035951
  • GC19M036821
  • GC19M037440
  • GC19M037781
  • GC19M038079
  • GC19M038366
  • GC19M038660
  • GC19M038889

Summaries for ATP4A Gene

Entrez Gene Summary for ATP4A Gene

  • The protein encoded by this gene belongs to a family of P-type cation-transporting ATPases. The gastric H+, K+-ATPase is a heterodimer consisting of a high molecular weight catalytic alpha subunit and a smaller but heavily glycosylated beta subunit. This enzyme is a proton pump that catalyzes the hydrolysis of ATP coupled with the exchange of H(+) and K(+) ions across the plasma membrane. It is also responsible for gastric acid secretion. This gene encodes a catalytic alpha subunit of the gastric H+, K+-ATPase. [provided by RefSeq, Jul 2008]

GeneCards Summary for ATP4A Gene

ATP4A (ATPase H+/K+ Transporting Subunit Alpha) is a Protein Coding gene. Diseases associated with ATP4A include Familial Gastric Type 1 Neuroendocrine Tumor and Functional Gastric Disease. Among its related pathways are Salivary secretion and Proton Pump Inhibitor Pathway, Pharmacodynamics. Gene Ontology (GO) annotations related to this gene include protein heterodimerization activity and magnesium ion binding. An important paralog of this gene is ATP12A.

UniProtKB/Swiss-Prot Summary for ATP4A Gene

  • Catalyzes the hydrolysis of ATP coupled with the exchange of H(+) and K(+) ions across the plasma membrane. Responsible for acid production in the stomach.

Tocris Summary for ATP4A Gene

  • H+, K+-ATPases are gastric proton pumps that function to maintain an acidic environment within the stomach. They are found in parietal cells of the gastric mucosa and transport H+ and K+ ions against their concentration gradients using energy derived from the hydrolysis of ATP.

Additional gene information for ATP4A Gene

No data available for CIViC Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ATP4A Gene

Genomics for ATP4A Gene

GeneHancer (GH) Regulatory Elements for ATP4A Gene

Promoters and enhancers for ATP4A 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
GH19J035564 Enhancer 0.4 dbSUPER 500.7 -1.6 -1631 1.1 ZNF223 NR2F6 NR3C1 FOXA1 HNF4G ATP4A ENSG00000283907 MG598805-010
GH19J035563 Promoter 0.3 EPDnew 500.7 0.0 -17 0.1 ATP4A ENSG00000283907 MG598805-010
GH19J035304 Promoter/Enhancer 1.7 EPDnew ENCODE CraniofacialAtlas dbSUPER 10.1 +255.7 255695 6.2 EP300 FOXK2 CTCF ZBTB11 TCF7 REST ZNF740 TOE1 MYC RAD21 CD22 MAG LSR HAMP ENSG00000267049 DMKN FAM187B ZBTB32 KRTDAP ENSG00000233214
GH19J035693 Enhancer 1.2 Ensembl ENCODE 10 -130.2 -130172 0.9 RXRA ZNF217 CTCF SIN3A TCF12 ZNF300 SP1 ZBTB5 ZIC2 ZBTB10 lnc-IGFLR1-2 TMEM147-AS1 ZNF567 ZNF599 HAUS5 PROSER3 ZNF792 KMT2B RBM42 ZNF146
GH19J035549 Enhancer 0.9 Ensembl ENCODE 8.7 +14.7 14657 1.2 CTCF ZBTB10 REST RAD21 TRIM22 ZEB1 SMC3 ZNF148 HES1 ZBTB17 DMKN SBSN ENSG00000267049 KRTDAP ZBTB32 HAUS5 ZNF599 ENSG00000233214 ATP4A TMEM147-AS1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ATP4A on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ATP4A

Top Transcription factor binding sites by QIAGEN in the ATP4A gene promoter:
  • AML1a
  • AREB6
  • c-Myc
  • CUTL1
  • HEN1
  • Max1
  • MAZR
  • Pax-6
  • PPAR-alpha
  • ZID

Genomic Locations for ATP4A Gene

Genomic Locations for ATP4A Gene
chr19:35,550,031-35,563,658
(GRCh38/hg38)
Size:
13,628 bases
Orientation:
Minus strand
chr19:36,040,945-36,054,560
(GRCh37/hg19)
Size:
13,616 bases
Orientation:
Minus strand

Genomic View for ATP4A Gene

Genes around ATP4A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATP4A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATP4A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATP4A Gene

Proteins for ATP4A Gene

  • Protein details for ATP4A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P20648-ATP4A_HUMAN
    Recommended name:
    Potassium-transporting ATPase alpha chain 1
    Protein Accession:
    P20648
    Secondary Accessions:
    • O00738

    Protein attributes for ATP4A Gene

    Size:
    1035 amino acids
    Molecular mass:
    114119 Da
    Quaternary structure:
    • Composed of two subunits: alpha (catalytic) and beta.

neXtProt entry for ATP4A Gene

Selected DME Specific Peptides for ATP4A Gene

P20648:
  • AVETLGS
  • EAFQTAY
  • KNCVVKNLEAVETLGSTSVICSDKTGTLTQNRMTVSHLWF
  • PLETRNIA
  • HLQDLQDSYGQEWTF
  • SSLTGES
  • LIAVVVVTGCFGYYQEFKSTNIIASFKNLVPQQATV
  • DVLIRKTRRLS
  • YDEIRKL
  • LIFVYDE
  • LIFVYDEIRKLGVR
  • ELEQKYQTSATKGL
  • DSYGQEWT
  • ADIGVAMG
  • KCRTAGIRVIMVTGDHPITAKAIAASVGIISEGSETVED
  • EIPFNSTNKFQLSIH
  • GDRVPAD
  • DKTGTLT
  • ADTTEDQSG
  • LGAIVAVTGDGVNDSPALKKADIGVAMGIAGSDAAKNAA
  • FLCYCPGMPN
  • VFARTSPQQKL
  • DDNFASI
  • SVELGPG
  • TPIAIEIEHF
  • VGIISEG
  • PFNSTNK
  • LVMKGAPER
  • LAYEKAESDIM
  • NDHQLSV
  • TALLKFSE
  • SMIDPPR
  • KFARQLAGGLQCLMWVAA
  • YSYFQIG
  • TGDHPITA
  • SVPLPLGCITILFIELCTDIFPSVSLAYE
  • AADMILLDDNF
  • IKGQELPLDEQW
  • RDGDKFQINA
  • QRLYQQYTCYTVFFIS
  • LGGLGERVLGFC
  • VAVTGDGVNDSPALKKADIG
  • NEKTPIAIEIEHFVDIIAGLAI
  • FDQSSETWRALCRVLTLCNRAAFKSGQDAVPVPKRIVIGD
  • RDGPNAL
  • MAQEGWFP
  • VVGDLVE
  • IGYTFLRAMVFFMAIVVAYVPEGLLATVTVCLSLTAKRL
  • ADTTEDQSGQTFDQSSETWRALCRVLTLCNRAAFKSGQDA
  • PVPKRIVIGDASETAL

Post-translational modifications for ATP4A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ATP4A Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for ATP4A Gene

Gene Families for ATP4A Gene

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

Protein Domains for ATP4A Gene

Blocks:
  • ATPase, E1-E2 type
  • E1-E2 ATPase-associated region
  • Cation transporting ATPase, C-terminal
  • Sodium/potassium-transporting ATPase signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ATP4A Gene

GenScript: Design optimal peptide antigens:
  • Proton pump (ATP4A_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P20648

UniProtKB/Swiss-Prot:

ATP4A_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 ATP4A: view

Function for ATP4A Gene

Molecular function for ATP4A 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 acid production in the stomach.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + H(+)(in) + H2O + K(+)(out) = ADP + 2 H(+)(out) + K(+)(in) + phosphate; Xref=Rhea:RHEA:22044, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:29103, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; EC=7.2.2.19;.
GENATLAS Biochemistry:
ATPase,H+,K+ transporting,alpha 4 polypeptide,expressed in parietal gastric cells

Enzyme Numbers (IUBMB) for ATP4A Gene

Phenotypes From GWAS Catalog for ATP4A Gene

Gene Ontology (GO) - Molecular Function for ATP4A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000287 magnesium ion binding IEA --
GO:0005391 sodium:potassium-exchanging ATPase activity IBA 21873635
GO:0005524 ATP binding IEA --
GO:0008556 potassium-transporting ATPase activity IEA --
GO:0008900 potassium:proton exchanging ATPase activity IBA 21873635
genes like me logo Genes that share ontologies with ATP4A: view
genes like me logo Genes that share phenotypes with ATP4A: view

Animal Models for ATP4A Gene

MGI Knock Outs for ATP4A:

Animal Model Products

CRISPR Products

miRNA for ATP4A Gene

miRTarBase miRNAs that target ATP4A

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATP4A

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ATP4A Gene

Localization for ATP4A Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATP4A Gene

Cell 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 ATP4A gene
Compartment Confidence
plasma membrane 5
extracellular 3
mitochondrion 3
endosome 3
cytosol 3
lysosome 3
cytoskeleton 2
nucleus 2
endoplasmic reticulum 2
golgi apparatus 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for ATP4A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space HDA 22664934
GO:0005623 cell IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 2160952
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with ATP4A: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ATP4A Gene

Pathways & Interactions for ATP4A Gene

genes like me logo Genes that share pathways with ATP4A: view

Gene Ontology (GO) - Biological Process for ATP4A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006813 potassium ion transport IEA --
GO:0006883 cellular sodium ion homeostasis IBA 21873635
GO:0010248 establishment or maintenance of transmembrane electrochemical gradient IEA --
GO:0030007 cellular potassium ion homeostasis IBA 21873635
genes like me logo Genes that share ontologies with ATP4A: view

No data available for SIGNOR curated interactions for ATP4A Gene

Drugs & Compounds for ATP4A Gene

(19) Drugs for ATP4A Gene - From: DrugBank, ApexBio, DGIdb, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Lansoprazole Approved, Investigational Pharma Target, inhibitor H+,K+-ATPase inhibitor 250
Esomeprazole Approved, Investigational Pharma Target, inhibitor Proton pump inhibitor 403
Pantoprazole Approved Pharma Target, inhibitor H+/K+-ATPase inhibitor 194
Rabeprazole Approved, Investigational Pharma Target, inhibitor 185
Omeprazole Approved, Investigational, Vet_approved Pharma Activator, Target, inhibitor H+,K+-ATPase inhibitor 427

(5) Additional Compounds for ATP4A Gene - From: HMDB and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
5-Hydroxyomeprazole
  • 5-Methoxy-2-(((4-methoxy-3-methyl-5-hydroxymethyl-2-pyridinyl)methyl)sulfinyl)-1H-benzimidazole
  • Hydroxyomeprazole
  • 5-Methoxy-2-(((4-methoxy-3-methyl-5-hydroxymethyl-2-pyridinyl)methyl)sulphinyl)-1H-benzimidazole
  • 5-Hydroxy omeprazole
  • 5-Hydroxymethylomeprazole
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 58-64-0
Hydroxylansoprazole
  • 5-Hydroxy lansoprazole
Phosphate
  • [po(OH)3]
  • Acide phosphorique
  • Acidum phosphoricum
  • H3PO4
  • Orthophosphoric acid
14066-19-4, 14265-44-2
PF 3716556
928774-43-0

(4) Tocris Compounds for ATP4A Gene

Compound Action Cas Number
Lansoprazole H+,K+-ATPase inhibitor 103577-45-3
Omeprazole H+,K+-ATPase inhibitor 73590-58-6
PF 3716556 Selective H+,K+-ATPase inhibitor 928774-43-0
SCH 28080 H+,K+-ATPase inhibitor 76081-98-6

(13) ApexBio Compounds for ATP4A Gene

Compound Action Cas Number
BCH 20448-79-7
Dexlansoprazole 138530-94-6
Esomeprazole Magnesium Proton pump inhibitor 161973-10-0
Esomeprazole magnesium salt 1198768-91-0
Esomeprazole Magnesium trihydrate Proton pump inhibitor 217087-09-7
Esomeprazole Sodium Proton pump inhibitor 161796-78-7
Lansoprazole H+,K+-ATPase inhibitor 103577-45-3
N2-Methyl-L-arginine 2480-28-6
Pantoprazole H+/K+-ATPase inhibitor 102625-70-7
Rabeprazole 117976-89-3
Rabeprazole sodium 117976-90-6
Tenatoprazole 113712-98-4
Zinc Pyrithione 13463-41-7
genes like me logo Genes that share compounds with ATP4A: view

Drug Products

Transcripts for ATP4A Gene

mRNA/cDNA for ATP4A Gene

1 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATP4A

Alternative Splicing Database (ASD) splice patterns (SP) for ATP4A Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b · 11c ^ 12 ^ 13 ^ 14a · 14b ^ 15a · 15b ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^
SP1: - -
SP2: - - - -
SP3: - -
SP4:
SP5: -

ExUns: 22
SP1:
SP2:
SP3:
SP4:
SP5:

Relevant External Links for ATP4A Gene

GeneLoc Exon Structure for
ATP4A

Expression for ATP4A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ATP4A Gene

mRNA differential expression in normal tissues according to GTEx for ATP4A Gene

This gene is overexpressed in Stomach (x51.1).

Protein differential expression in normal tissues from HIPED for ATP4A Gene

This gene is overexpressed in Brain (46.0), Stomach (12.9), and Cardia (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ATP4A Gene



Protein tissue co-expression partners for ATP4A Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ATP4A

SOURCE GeneReport for Unigene cluster for ATP4A Gene:

Hs.36992

mRNA Expression by UniProt/SwissProt for ATP4A Gene:

P20648-ATP4A_HUMAN
Tissue specificity: Found in gastric mucosa.

Evidence on tissue expression from TISSUES for ATP4A Gene

  • Stomach(4.7)
  • Nervous system(4.5)
  • Intestine(3.2)
  • Blood(3)
  • Kidney(2.7)
  • Liver(2.4)
  • Heart(2.1)
  • Skin(2.1)
  • Pancreas(2)
genes like me logo Genes that share expression patterns with ATP4A: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for ATP4A Gene

Orthologs for ATP4A Gene

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

Orthologs for ATP4A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ATP4A 31 30
  • 99.44 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ATP4A 31
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ATP4A 31 30
  • 90.91 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ATP4A 31 30
  • 90.84 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Atp4a 30
  • 88.94 (n)
mouse
(Mus musculus)
Mammalia Atp4a 17 31 30
  • 88.55 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ATP4A 31
  • 62 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ATP4A 31
  • 87 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.971 30
zebrafish
(Danio rerio)
Actinopterygii atp1a1a.4 31
  • 62 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta Atpalpha 31
  • 60 (a)
OneToMany
CG17923 32
  • 54 (a)
CG3701 32
  • 29 (a)
worm
(Caenorhabditis elegans)
Secernentea eat-6 31 32
  • 59 (a)
OneToMany
C02E7.1 32
  • 36 (a)
Y105E8A.12 32
  • 31 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ENA5 31
  • 25 (a)
ManyToMany
ENA1 31
  • 25 (a)
ManyToMany
ENA2 31
  • 25 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 53 (a)
OneToMany
Species where no ortholog for ATP4A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for ATP4A Gene

ENSEMBL:
Gene Tree for ATP4A (if available)
TreeFam:
Gene Tree for ATP4A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ATP4A: view image

Paralogs for ATP4A Gene

(6) SIMAP similar genes for ATP4A Gene using alignment to 2 proteins:

  • ATP4A_HUMAN
  • M0R249_HUMAN
genes like me logo Genes that share paralogs with ATP4A: view

Variants for ATP4A Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ATP4A Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
710383 Benign: not provided 35,555,527(-) G/A SYNONYMOUS_VARIANT
711998 Benign: not provided 35,555,696(-) G/A SYNONYMOUS_VARIANT
713236 Benign: not provided 35,557,030(-) T/C SYNONYMOUS_VARIANT
717755 Likely Benign: not provided 35,557,759(-) C/T MISSENSE_VARIANT
718322 Benign: not provided 35,563,266(-) G/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for ATP4A Gene

Structural Variations from Database of Genomic Variants (DGV) for ATP4A Gene

Variant ID Type Subtype PubMed ID
nsv1077863 CNV duplication 25765185
nsv953285 CNV deletion 24416366

Variation tolerance for ATP4A Gene

Residual Variation Intolerance Score: 3.47% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.28; 40.83% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ATP4A Gene

Human Gene Mutation Database (HGMD)
ATP4A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATP4A

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATP4A Gene

Disorders for ATP4A Gene

MalaCards: The human disease database

(126) MalaCards diseases for ATP4A Gene - From: Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
familial gastric type 1 neuroendocrine tumor
functional gastric disease
peptic esophagitis
  • peptic reflux disease
hernia, hiatus
  • hiatal hernia
peptic ulcer disease
  • acute peptic ulcer with hemorrhage
- elite association - COSMIC cancer census association via MalaCards
Search ATP4A in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ATP4A

genes like me logo Genes that share disorders with ATP4A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ATP4A Gene

Publications for ATP4A Gene

  1. Structure of the human gastric H,K-ATPase gene and comparison of the 5'-flanking sequences of the human and rat genes. (PMID: 2176086) Newman PR … Shull GE (DNA and cell biology 1990) 3 4 23 54
  2. The DNA sequence and biology of human chromosome 19. (PMID: 15057824) Grimwood J … Lucas SM (Nature 2004) 3 4 54
  3. Mapping of the gene encoding the alpha-subunit of the human H+,K(+)-ATPase to chromosome 19q13.1 by fluorescent in situ hybridization. (PMID: 1330887) Song I … Trent JM (Genomics 1992) 2 3 54
  4. Human gastric (H+ + K+)-ATPase gene. Similarity to (Na+ + K+)-ATPase genes in exon/intron organization but difference in control region. (PMID: 2160952) Maeda M … Futai M (The Journal of biological chemistry 1990) 3 4 54
  5. The family of human Na+,K+-ATPase genes. No less than five genes and/or pseudogenes related to the alpha-subunit. (PMID: 3036582) Sverdlov ED … Petrukhin KE (FEBS letters 1987) 3 4 54

Products for ATP4A Gene

Sources for ATP4A Gene