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Aliases for ATP6V0A2 Gene

Aliases for ATP6V0A2 Gene

  • ATPase H+ Transporting V0 Subunit A2 2 3 5
  • ATPase, H+ Transporting, Lysosomal V0 Subunit A2 2 2 3
  • Lysosomal H(+)-Transporting ATPase V0 Subunit A2 3 4
  • V-Type Proton ATPase 116 KDa Subunit A 3 3
  • Infantile Malignant Osteopetrosis 2 2
  • TJ6 3 4
  • Vacuolar Proton Translocating ATPase 116 KDa Subunit A Isoform 2 4
  • ATPase, H+ Transporting, Lysosomal V0 Subunit A Isoform 2 2
  • Vacuolar Proton Translocating ATPase 116 KDa Subunit A 3
  • V-Type Proton ATPase 116 KDa Subunit A Isoform 2 3
  • Regeneration And Tolerance Factor 3
  • V-ATPase 116 KDa Isoform A2 4
  • V-ATPase 116 KDa 3
  • A2V-ATPase 3
  • ATP6N1D 3
  • ARCL2A 3
  • ATP6A2 3
  • ARCL 3
  • J6B7 3
  • STV1 3
  • TJ6M 3
  • TJ6S 3
  • VPH1 3
  • RTF 3
  • WSS 3
  • A2 3

External Ids for ATP6V0A2 Gene

Previous GeneCards Identifiers for ATP6V0A2 Gene

  • GC12P122772
  • GC12U900035
  • GC12P123920
  • GC12P122550
  • GC12P122549
  • GC12P122721
  • GC12P122762
  • GC12P124196
  • GC12P121158

Summaries for ATP6V0A2 Gene

Entrez Gene Summary for ATP6V0A2 Gene

  • The protein encoded by this gene is a subunit of the vacuolar ATPase (v-ATPase), an heteromultimeric enzyme that is present in intracellular vesicles and in the plasma membrane of specialized cells, and which is essential for the acidification of diverse cellular components. V-ATPase is comprised of a membrane peripheral V(1) domain for ATP hydrolysis, and an integral membrane V(0) domain for proton translocation. The subunit encoded by this gene is a component of the V(0) domain. Mutations in this gene are a cause of both cutis laxa type II and wrinkly skin syndrome. [provided by RefSeq, Jul 2009]

GeneCards Summary for ATP6V0A2 Gene

ATP6V0A2 (ATPase H+ Transporting V0 Subunit A2) is a Protein Coding gene. Diseases associated with ATP6V0A2 include Wrinkly Skin Syndrome and Cutis Laxa, Autosomal Recessive, Type Iia. Among its related pathways are Rheumatoid arthritis and Insulin receptor recycling. Gene Ontology (GO) annotations related to this gene include ATPase binding and proton-transporting ATPase activity, rotational mechanism. An important paralog of this gene is ATP6V0A1.

UniProtKB/Swiss-Prot for ATP6V0A2 Gene

  • Part of the proton channel of V-ATPases. Essential component of the endosomal pH-sensing machinery. May play a role in maintaining the Golgi functions, such as glycosylation maturation, by controlling the Golgi pH. In aerobic conditions, involved in intracellular iron homeostasis, thus triggering the activity of Fe(2+) prolyl hydroxylase (PHD) enzymes, and leading to HIF1A hydroxylation and subsequent proteasomal degradation (PubMed:28296633).

Tocris Summary for ATP6V0A2 Gene

  • H+-ATPase (also known as vacuolar ATPase, V-ATPase) is a enzyme transporter that functions to acidify intracellular compartments in eukaryotic cells. It is ubiquitously expressed and is present in endomembrane organelles such as vacuoles, lysosomes and endosomes.

Gene Wiki entry for ATP6V0A2 Gene

Additional gene information for ATP6V0A2 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATP6V0A2 Gene

Genomics for ATP6V0A2 Gene

GeneHancer (GH) Regulatory Elements for ATP6V0A2 Gene

Promoters and enhancers for ATP6V0A2 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
GH12J123711 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 665.6 +1.1 1120 4.7 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZBTB7B YY1 POLR2B ZNF143 ATP6V0A2 TCTN2 DDX55 EIF2B1 DNAH10 LOC101927415 C12orf65 KMT5A ENSG00000270130 NCOR2
GH12J123600 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 44.1 -110.2 -110172 2.6 ZFP64 FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 ZNF263 SP3 DDX55 LOC101927415 EIF2B1 C12orf65 ATP6V0A2 OGFOD2 TCTN2 SBNO1 RPL27P12 DNAH10OS
GH12J122919 Enhancer 1 ENCODE dbSUPER 80.3 -792.3 -792311 1.5 ZNF493 ZFP64 ZEB1 ZNF155 ZNF121 ZNF213 ZNF138 KLF7 FOS ZNF202 EIF2B1 ZCCHC8 DDX55 RSRC2 ATP6V0A2 LOC101927415 ENSG00000235423 C12orf65 OGFOD2 TCTN2
GH12J122885 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 32.8 -820.7 -820710 11.5 CLOCK IRF4 YY1 ZNF213 E2F8 ZNF143 SP3 GLIS1 RCOR2 NBN VPS37B RSRC2 ZCCHC8 EIF2B1 DDX55 ATP6V0A2 KNTC1 OGFOD2 LOC101927415 TCTN2
GH12J123582 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 32.6 -128.1 -128124 4 ZFP64 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 NFYC ZNF610 LOC101927415 GC12M123581 TMED2 DDX55 EIF2B1 ATP6V0A2 TCTN2 OGFOD2 NCOR2 DNAH10OS
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ATP6V0A2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ATP6V0A2 gene promoter:

Genomic Locations for ATP6V0A2 Gene

Genomic Locations for ATP6V0A2 Gene
chr12:123,712,318-123,761,755
(GRCh38/hg38)
Size:
49,438 bases
Orientation:
Plus strand
chr12:124,196,865-124,246,302
(GRCh37/hg19)

Genomic View for ATP6V0A2 Gene

Genes around ATP6V0A2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATP6V0A2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATP6V0A2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATP6V0A2 Gene

Proteins for ATP6V0A2 Gene

  • Protein details for ATP6V0A2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y487-VPP2_HUMAN
    Recommended name:
    V-type proton ATPase 116 kDa subunit a isoform 2
    Protein Accession:
    Q9Y487
    Secondary Accessions:
    • A8K026
    • Q6NUM0

    Protein attributes for ATP6V0A2 Gene

    Size:
    856 amino acids
    Molecular mass:
    98082 Da
    Quaternary structure:
    • The V-ATPase is a heteromultimeric enzyme composed of at least thirteen different subunits. It has a membrane peripheral V1 sector for ATP hydrolysis and an integral V0 for proton translocation. The V1 sector comprises subunits A-H, whereas V0 includes subunits a, d, c, c, and c. Directly interacts with PSCD2 through its N-terminal cytosolic tail in an intra-endosomal acidification-dependent manner (PubMed:16415858). Disruption of this interaction results in the inhibition of endocytosis (PubMed:16415858). Interacts with SPAAR (PubMed:28024296).

neXtProt entry for ATP6V0A2 Gene

Post-translational modifications for ATP6V0A2 Gene

  • Glycosylation at Asn505 and Asn484
  • Ubiquitination at posLast=374374, Lys363, posLast=279279, Lys172, and Lys92
  • Modification sites at PhosphoSitePlus

Other Protein References for ATP6V0A2 Gene

No data available for DME Specific Peptides for ATP6V0A2 Gene

Domains & Families for ATP6V0A2 Gene

Gene Families for ATP6V0A2 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for ATP6V0A2 Gene

Suggested Antigen Peptide Sequences for ATP6V0A2 Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y487

UniProtKB/Swiss-Prot:

VPP2_HUMAN :
  • Belongs to the V-ATPase 116 kDa subunit family.
Family:
  • Belongs to the V-ATPase 116 kDa subunit family.
genes like me logo Genes that share domains with ATP6V0A2: view

Function for ATP6V0A2 Gene

Molecular function for ATP6V0A2 Gene

UniProtKB/Swiss-Prot Function:
Part of the proton channel of V-ATPases. Essential component of the endosomal pH-sensing machinery. May play a role in maintaining the Golgi functions, such as glycosylation maturation, by controlling the Golgi pH. In aerobic conditions, involved in intracellular iron homeostasis, thus triggering the activity of Fe(2+) prolyl hydroxylase (PHD) enzymes, and leading to HIF1A hydroxylation and subsequent proteasomal degradation (PubMed:28296633).

Phenotypes From GWAS Catalog for ATP6V0A2 Gene

Gene Ontology (GO) - Molecular Function for ATP6V0A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16415858
GO:0015078 proton transmembrane transporter activity IEA --
GO:0046961 proton-transporting ATPase activity, rotational mechanism IBA --
GO:0051117 ATPase binding IBA --
genes like me logo Genes that share ontologies with ATP6V0A2: view
genes like me logo Genes that share phenotypes with ATP6V0A2: view

Human Phenotype Ontology for ATP6V0A2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for ATP6V0A2 Gene

miRTarBase miRNAs that target ATP6V0A2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATP6V0A2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for ATP6V0A2 Gene

Localization for ATP6V0A2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATP6V0A2 Gene

Cell membrane; Multi-pass membrane protein. Endosome membrane. Note=In kidney proximal tubules, also detected in subapical vesicles. {ECO:0000250}.

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 ATP6V0A2 gene
Compartment Confidence
plasma membrane 5
lysosome 5
endosome 5
cytosol 3
golgi apparatus 2
extracellular 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ATP6V0A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000220 vacuolar proton-transporting V-type ATPase, V0 domain IEA --
GO:0001669 acrosomal vesicle IEA --
GO:0005765 lysosomal membrane HDA 17897319
GO:0005768 endosome IEA --
GO:0005886 plasma membrane IBA --
genes like me logo Genes that share ontologies with ATP6V0A2: view

Pathways & Interactions for ATP6V0A2 Gene

genes like me logo Genes that share pathways with ATP6V0A2: view

Gene Ontology (GO) - Biological Process for ATP6V0A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006879 cellular iron ion homeostasis IMP 28296633
GO:0006955 immune response TAS 2247090
GO:0007035 vacuolar acidification IBA --
GO:0008286 insulin receptor signaling pathway TAS --
genes like me logo Genes that share ontologies with ATP6V0A2: view

No data available for SIGNOR curated interactions for ATP6V0A2 Gene

Drugs & Compounds for ATP6V0A2 Gene

(4) Drugs for ATP6V0A2 Gene - From: HMDB and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
Bafilomycin A1 Experimental Pharma V-ATPase inhibitor,selective and reversible, H+-ATPase (vacuolar) inhibitor 0
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Potentiation, Pore Blocker 0
Concanamycin A Pharma V-type (vacuolar) H+-ATPase inhibitor, H+-ATPase (vacuolar) inhibitor 0

(2) Additional Compounds for ATP6V0A2 Gene - From: HMDB

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

(2) Tocris Compounds for ATP6V0A2 Gene

Compound Action Cas Number
Bafilomycin A1 H+-ATPase (vacuolar) inhibitor 88899-55-2
Concanamycin A H+-ATPase (vacuolar) inhibitor 80890-47-7
genes like me logo Genes that share compounds with ATP6V0A2: view

Transcripts for ATP6V0A2 Gene

mRNA/cDNA for ATP6V0A2 Gene

Unigene Clusters for ATP6V0A2 Gene

ATPase, H+ transporting, lysosomal V0 subunit a2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATP6V0A2

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ATP6V0A2 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b · 19c ^ 20 ^ 21 ^ 22
SP1: - - - -
SP2:
SP3:
SP4: -

Relevant External Links for ATP6V0A2 Gene

GeneLoc Exon Structure for
ATP6V0A2
ECgene alternative splicing isoforms for
ATP6V0A2

Expression for ATP6V0A2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ATP6V0A2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ATP6V0A2 Gene

This gene is overexpressed in Nasal epithelium (61.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ATP6V0A2 Gene



Protein tissue co-expression partners for ATP6V0A2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ATP6V0A2 Gene:

ATP6V0A2

SOURCE GeneReport for Unigene cluster for ATP6V0A2 Gene:

Hs.25786

Evidence on tissue expression from TISSUES for ATP6V0A2 Gene

  • Nervous system(4.4)
  • Blood(2.3)
  • Eye(2.3)
  • Bone marrow(2)
  • Skin(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ATP6V0A2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cheek
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • pituitary gland
  • skull
  • tooth
  • vocal cord
Thorax:
  • breast
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • intestine
  • liver
Pelvis:
  • ovary
  • pelvis
  • placenta
  • testicle
  • uterus
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • coagulation system
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with ATP6V0A2: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for ATP6V0A2 Gene

Orthologs for ATP6V0A2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ATP6V0A2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ATP6V0A2 34 33
  • 99.45 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ATP6V0A2 34 33
  • 89.48 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ATP6V0A2 34 33
  • 88.97 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Atp6v0a2 16 34 33
  • 84.23 (n)
rat
(Rattus norvegicus)
Mammalia Atp6v0a2 33
  • 84 (n)
oppossum
(Monodelphis domestica)
Mammalia ATP6V0A2 34
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ATP6V0A2 34
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves ATP6V0A2 34 33
  • 72.32 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ATP6V0A2 34
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia atp6v0a2 33
  • 68.51 (n)
zebrafish
(Danio rerio)
Actinopterygii atp6v0a2a 34
  • 67 (a)
OneToMany
atp6v0a2b 34 33
  • 66.55 (n)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Vha100-2 34 35
  • 46 (a)
ManyToMany
Vha100-1 34
  • 45 (a)
ManyToMany
Vha100-5 34
  • 45 (a)
ManyToMany
Vha100-4 34
  • 43 (a)
ManyToMany
CG7678 35
  • 42 (a)
Vha100-3 34
  • 33 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea unc-32 34
  • 43 (a)
ManyToMany
vha-6 34
  • 41 (a)
ManyToMany
vha-5 34 35
  • 39 (a)
ManyToMany
vha-7 34 35
  • 27 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes VPH1 34
  • 36 (a)
ManyToMany
STV1 34
  • 34 (a)
ManyToMany
soybean
(Glycine max)
eudicotyledons Gma.12518 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 63 (a)
OneToMany
Species where no ortholog for ATP6V0A2 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)
  • 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 ATP6V0A2 Gene

ENSEMBL:
Gene Tree for ATP6V0A2 (if available)
TreeFam:
Gene Tree for ATP6V0A2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ATP6V0A2: view image

Paralogs for ATP6V0A2 Gene

Paralogs for ATP6V0A2 Gene

(5) SIMAP similar genes for ATP6V0A2 Gene using alignment to 5 proteins:

  • Q8TBM3_HUMAN
  • F5H847_HUMAN
  • F5H5F3_HUMAN
  • F5GX48_HUMAN
  • VPP2_HUMAN
genes like me logo Genes that share paralogs with ATP6V0A2: view

Variants for ATP6V0A2 Gene

Sequence variations from dbSNP and Humsavar for ATP6V0A2 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1010133595 uncertain-significance, Cutis laxa, recessive 123,760,230(+) C/T 3_prime_UTR_variant
rs1030243784 uncertain-significance, Cutis laxa, recessive 123,759,860(+) C/G 3_prime_UTR_variant
rs10744162 benign, Cutis laxa, recessive 123,759,160(+) T/C 3_prime_UTR_variant
rs10846553 benign, Cutis laxa, recessive 123,759,725(+) C/G 3_prime_UTR_variant
rs111540619 likely-benign, Cutis laxa, recessive 123,761,259(+) C/G 3_prime_UTR_variant

Structural Variations from Database of Genomic Variants (DGV) for ATP6V0A2 Gene

Variant ID Type Subtype PubMed ID
dgv309e214 CNV gain 21293372
esv1436194 CNV insertion 17803354
esv2274657 CNV deletion 18987734
esv2619454 CNV insertion 19546169
esv2746510 CNV deletion 23290073
esv2746511 CNV deletion 23290073
esv2746512 CNV deletion 23290073
esv3332718 CNV insertion 20981092
esv3549924 CNV deletion 23714750
esv993337 CNV deletion 20482838
nsv1152914 CNV deletion 26484159
nsv832534 CNV loss 17160897

Variation tolerance for ATP6V0A2 Gene

Residual Variation Intolerance Score: 31.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.83; 67.08% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ATP6V0A2 Gene

Human Gene Mutation Database (HGMD)
ATP6V0A2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATP6V0A2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATP6V0A2 Gene

Disorders for ATP6V0A2 Gene

MalaCards: The human disease database

(8) MalaCards diseases for ATP6V0A2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
wrinkly skin syndrome
  • wss
cutis laxa, autosomal recessive, type iia
  • arcl2a
atp6v0a2-related cutis laxa
  • cutis laxa, autosomal recessive, type iia
autosomal recessive cutis laxa type ii classic type
  • arcl2, classic type
cutis laxa
  • loose skin
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

VPP2_HUMAN
  • Cutis laxa, autosomal recessive, 2A (ARCL2A) [MIM:219200]: A disorder characterized by an excessive congenital skin wrinkling, a large fontanelle with delayed closure, a typical facial appearance with downslanting palpebral fissures, a general connective tissue weakness, and varying degrees of growth and developmental delay and neurological abnormalities. Some affected individuals develop seizures and mental deterioration later in life, whereas the skin phenotype tends to become milder with age. At the molecular level, an abnormal glycosylation of serum proteins is observed in many cases. {ECO:0000269 PubMed:18157129}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Wrinkly skin syndrome (WSS) [MIM:278250]: A rare autosomal recessive disorder characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple musculoskeletal abnormalities, microcephaly, growth failure and developmental delay. {ECO:0000269 PubMed:18157129}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for ATP6V0A2

genes like me logo Genes that share disorders with ATP6V0A2: view

No data available for Genatlas for ATP6V0A2 Gene

Publications for ATP6V0A2 Gene

  1. Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. (PMID: 18157129) Kornak U … Mundlos S (Nature genetics 2008) 2 3 4 58
  2. The N-terminus domain of the a2 isoform of vacuolar ATPase can regulate interleukin-1beta production from mononuclear cells in co-culture with JEG-3 choriocarcinoma cells. (PMID: 17295899) Ntrivalas E … Beaman K (American journal of reproductive immunology (New York, N.Y. : 1989) 2007) 3 4 22 58
  3. The vacuolar-ATPase complex and assembly factors, TMEM199 and CCDC115, control HIF1α prolyl hydroxylation by regulating cellular iron levels. (PMID: 28296633) Miles AL … Nathan JA (eLife 2017) 3 4 58
  4. Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals. (PMID: 22479202) Dastani Z … Kathiresan S (PLoS genetics 2012) 3 44 58
  5. Vacuolar H+-ATPase meets glycosylation in patients with cutis laxa. (PMID: 19171192) Guillard M … Wevers RA (Biochimica et biophysica acta 2009) 3 22 58

Products for ATP6V0A2 Gene

Sources for ATP6V0A2 Gene

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