Free for academic non-profit institutions. Other users need a Commercial license
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 ... See more...
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
- TJ6 2 3 4
- Lysosomal H(+)-Transporting ATPase V0 Subunit A2 3 4
- V-Type Proton ATPase 116 KDa Subunit A2 3 4
- V-ATPase 116 KDa Subunit A2 3 4
- ATP6N1D 2 3
- J6B7 2 3
- TJ6M 2 3
- A2 2 3
- 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 3
- Infantile Malignant Osteopetrosis 2
External Ids for ATP6V0A2 Gene
- HGNC: 18481
- NCBI Entrez Gene: 23545
- Ensembl: ENSG00000185344
- OMIM®: 611716
- UniProtKB/Swiss-Prot: Q9Y487
Previous GeneCards Identifiers for ATP6V0A2 Gene
- GC12P122772
- GC12U900035
- GC12P123920
- GC12P122550
- GC12P122549
- GC12P122721
- GC12P122762
- GC12P124196
- GC12P121158
Summaries 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 Signaling by GPCR 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 Summary 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).
-
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.
Additional gene information for ATP6V0A2 Gene
- HGNC (18481)
- NCBI Entrez Gene (23545)
- Ensembl (ENSG00000185344)
- OMIM® (611716)
- UniProtKB/Swiss-Prot (Q9Y487)
- Open Targets Platform(ENSG00000185344)
- Monarch Initiative
- Search for ATP6V0A2 at DataMed
- Search for ATP6V0A2 at HumanCyc
No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ATP6V0A2 Gene
Genomics for ATP6V0A2 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for ATP6V0A2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around ATP6V0A2 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ATP6V0A2
- Top Transcription factor binding sites by QIAGEN in the ATP6V0A2 gene promoter:
-
- C/EBPalpha
- CHOP-10
- E47
- GR
- Hand1
- HNF-1
- HNF-1A
- MyoD
- Nkx2-2
- ZID
Genomic Locations for ATP6V0A2 Gene
Latest Assembly
- chr12:123,712,353-123,761,755
- (GRCh38/hg38)
- Size:
- 49,403 bases
- Orientation:
- Plus strand
Previous Assembly
- chr12:124,196,900-124,246,302
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 49,403 bases
- Orientation:
- Plus strand
- chr12:124,196,865-124,246,302
- (GRCh37/hg19 by Ensembl)
- Size:
- 49,438 bases
- Orientation:
- Plus strand
Genomic View for ATP6V0A2 Gene
Genes around ATP6V0A2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 12q24.31 by HGNC
- 12q24.31 by Entrez Gene
- 12q24.31 by Ensembl
ATP6V0A2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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 a2
- Protein Accession:
- Q9Y487
- 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).
Protein Expression for ATP6V0A2 Gene
Post-translational modifications for ATP6V0A2 Gene
Other Protein References for ATP6V0A2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- LifeSpan BioSciences ATP6V0A2 Antibody
- G Biosciences Immunotag™ ATP6V0A2 Antibody
- Novus Biologicals Antibodies for ATP6V0A2
-
Abcam antibodies for ATP6V0A2
- Invitrogen Antibodies for ATP6V0A2 (AFLGC-ATP6V0A2)
-
Boster Bio Antibodies for ATP6V0A2
-
Custom Antibody ServicesProSci Antibodies for ATP6V0A2
- Sino Biological Antibodies for ATP6V0A2
Protein products for research
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for ATP6V0A2
- Origene Custom Protein Services for ATP6V0A2
- Novus Biologicals proteins for ATP6V0A2
-
Abcam proteins for ATP6V0A2
Assay products for research
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
- InterPro:
- Blocks:
-
- V-type ATPase, 116 kDa subunit
- ProtoNet:
Suggested Antigen Peptide Sequences for ATP6V0A2 Gene
- GenScript: Design optimal peptide antigens:
-
- Vacuolar proton translocating ATPase 116 kDa subunit a isoform 2 (VPP2_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q9Y487- Family:
-
- Belongs to the V-ATPase 116 kDa subunit family.
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
| 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 | 21873635 |
| GO:0051117 | ATPase binding | IBA | 21873635 |
Phenotypes for ATP6V0A2 Gene
- MGI mutant phenotypes for ATP6V0A2:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for ATP6V0A2:
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for ATP6V0A2 - Starting at $85 >
- * ATP6V0A2 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for ATP6V0A2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ATP6V0A2
-
Santa Cruz Biotechnology (SCBT) CRISPR for ATP6V0A2
miRNA for ATP6V0A2 Gene
- miRTarBase miRNAs that target ATP6V0A2
-
- hsa-miR-6721-5p (MIRT458178)
- hsa-miR-650 (MIRT458179)
- hsa-miR-3612 (MIRT458180)
- hsa-miR-4720-3p (MIRT458181)
- hsa-miR-4804-3p (MIRT458182)
- hsa-miR-4722-5p (MIRT458183)
- hsa-miR-2467-3p (MIRT458184)
- hsa-miR-1827 (MIRT458185)
- hsa-miR-219b-3p (MIRT458186)
- hsa-miR-302a-5p (MIRT458187)
- hsa-miR-6840-3p (MIRT458188)
- hsa-miR-4459 (MIRT458189)
- hsa-miR-665 (MIRT458190)
- hsa-miR-4768-3p (MIRT458191)
- hsa-miR-4761-3p (MIRT458192)
- hsa-miR-7843-5p (MIRT458193)
- hsa-miR-6879-5p (MIRT458194)
- hsa-miR-6735-5p (MIRT458195)
- hsa-miR-4632-5p (MIRT458196)
- hsa-miR-4436b-3p (MIRT458197)
- hsa-miR-6511a-5p (MIRT458198)
- hsa-miR-1910-3p (MIRT458199)
- hsa-miR-4695-5p (MIRT458200)
- hsa-miR-302f (MIRT458201)
- hsa-miR-6771-3p (MIRT458202)
- hsa-miR-4754 (MIRT572983)
- hsa-miR-1183 (MIRT572984)
- hsa-miR-3678-3p (MIRT672117)
- hsa-miR-7977 (MIRT672118)
- hsa-miR-4726-5p (MIRT672119)
- hsa-miR-4640-5p (MIRT672120)
- hsa-miR-24-3p (MIRT672121)
- hsa-miR-4284 (MIRT672122)
- hsa-miR-4755-3p (MIRT672123)
- hsa-miR-6895-5p (MIRT672124)
- hsa-miR-3158-5p (MIRT677125)
- hsa-miR-1283 (MIRT762163)
- hsa-miR-3130-3p (MIRT764875)
- hsa-miR-3190-5p (MIRT765351)
- hsa-miR-3613-3p (MIRT765972)
- hsa-miR-3614-5p (MIRT766027)
- hsa-miR-3675-3p (MIRT766665)
- hsa-miR-377-5p (MIRT767359)
- hsa-miR-3926 (MIRT767693)
- hsa-miR-4257 (MIRT768105)
- hsa-miR-4537 (MIRT770127)
- hsa-miR-455-3p (MIRT770271)
- hsa-miR-4786-5p (MIRT772282)
- hsa-miR-548s (MIRT774484)
- hsa-miR-6086 (MIRT775490)
- hsa-miR-6499-3p (MIRT776201)
- hsa-miR-6500-3p (MIRT776434)
- hsa-miR-6516-5p (MIRT777066)
- hsa-miR-6801-5p (MIRT779488)
- hsa-miR-6849-3p (MIRT780247)
- hsa-miR-873-3p (MIRT782452)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ATP6V0A2
- Browse OriGene Inhibitory RNA Products For ATP6V0A2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATP6V0A2
Clone products for research
- Applied Biological Materials (abm): Clones for ATP6V0A2 - Starting at $45 >
- * ATP6V0A2 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for ATP6V0A2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ATP6V0A2
Cell Lines for research
-
Horizon Cell Lines for ATP6V0A2
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}.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| endosome | 5 |
| lysosome | 4 |
| cytosol | 3 |
| extracellular | 2 |
| mitochondrion | 2 |
| nucleus | 2 |
| endoplasmic reticulum | 2 |
| golgi apparatus | 2 |
| cytoskeleton | 1 |
| peroxisome | 1 |
- Cytosol (2)
- Plasma membrane (2)
| 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 | 21873635 |
Pathways & Interactions for ATP6V0A2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Insulin receptor recycling | ||
| 2 | Innate Immune System |
.61
|
|
| 3 | PI3K-Akt signaling pathway | ||
| 4 | Lysosome |
-
|
|
| 5 | Metabolism | ||
Pathways by source for ATP6V0A2 Gene
10 Reactome pathways for ATP6V0A2 Gene
11 KEGG pathways for ATP6V0A2 Gene
Interacting Proteins for ATP6V0A2 Gene
Selected Interacting proteins:
Q9Y487-VPP2_HUMAN
ENSP00000332247
for ATP6V0A2 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for ATP6V0A2
| 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 | 21873635 |
| GO:0008286 | insulin receptor signaling pathway | TAS | -- |
No data available for SIGNOR curated interactions for ATP6V0A2 Gene
Drugs & Compounds for ATP6V0A2 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| tiludronate | Approved, Investigational, Vet_approved | Pharma | Target, inhibitor | 2 | ||
| Water | Approved | Pharma | 0 | |||
| Phosphate | Experimental | Pharma | 0 | |||
| Bafilomycin A1 | Experimental | Pharma | V-ATPase inhibitor,selective and reversible, H+-ATPase (vacuolar) inhibitor | 0 | ||
| Concanamycin A | Experimental | Pharma | V-type (vacuolar) H+-ATPase inhibitor, H+-ATPase (vacuolar) inhibitor | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| ADP |
|
58-64-0 |
|
(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 |
Transcripts for ATP6V0A2 Gene
mRNA/cDNA for ATP6V0A2 Gene
- 1 REFSEQ mRNAs :
- 17 NCBI additional mRNA sequence :
- 13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000330342 6507 nts (view in UCSC)
- ENST00000504192 2525 nts (view in UCSC)
- ENST00000534943 1733 nts (view in UCSC)
- ENST00000536426 742 nts (view in UCSC)
- ENST00000540368 3228 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for ATP6V0A2 - Starting at $85 >
- * ATP6V0A2 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for ATP6V0A2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ATP6V0A2
-
Santa Cruz Biotechnology (SCBT) CRISPR for ATP6V0A2
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ATP6V0A2
- Browse OriGene Inhibitory RNA Products For ATP6V0A2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATP6V0A2
Clone products for research
- Applied Biological Materials (abm): Clones for ATP6V0A2 - Starting at $45 >
- * ATP6V0A2 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for ATP6V0A2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ATP6V0A2
| 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
Expression for ATP6V0A2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Blood (Hematopoietic System)
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
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ATP6V0A2
SOURCE GeneReport for Unigene cluster for ATP6V0A2 Gene:
Hs.25786Evidence on tissue expression from TISSUES for ATP6V0A2 Gene
- Nervous system(4.5)
- Eye(2.4)
- Blood(2.4)
- Skin(2.3)
- Kidney(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
Primer products for research
-
OriGene qPCR primer pairs for ATP6V0A2
-
OriGene qPCR primer pairs and template standards for ATP6V0A2
Gene Expression Assays for research
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | ATP6V0A2 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | ATP6V0A2 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | ATP6V0A2 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Atp6v0a2 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Atp6v0a2 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | ATP6V0A2 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | ATP6V0A2 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | ATP6V0A2 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | ATP6V0A2 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | atp6v0a2 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | atp6v0a2a 31 |
|
OneToMany | |
| atp6v0a2b 30 31 |
|
OneToMany | |||
| Fruit Fly (Drosophila melanogaster) |
Insecta | Vha100-2 31 32 |
|
ManyToMany | |
| Vha100-1 31 |
|
ManyToMany | |||
| Vha100-5 31 |
|
ManyToMany | |||
| Vha100-4 31 |
|
ManyToMany | |||
| CG7678 32 |
|
|
|||
| Vha100-3 31 |
|
ManyToMany | |||
| Worm (Caenorhabditis elegans) |
Secernentea | unc-32 31 |
|
ManyToMany | |
| vha-6 31 |
|
ManyToMany | |||
| vha-5 31 32 |
|
ManyToMany | |||
| vha-7 31 32 |
|
ManyToMany | |||
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | VPH1 31 |
|
ManyToMany | |
| STV1 31 |
|
ManyToMany | |||
| Soybean (Glycine max) |
eudicotyledons | Gma.12518 30 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
- Species where no ortholog for ATP6V0A2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
- 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
Variants for ATP6V0A2 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ATP6V0A2 Gene
| SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 78884 | Uncertain Significance: Cutis laxa with osteodystrophy | 123,727,864(+) |
C/T NM_012463.4(ATP6V0A2):c.603C>T (p.Ile201=) |
SYNONYMOUS | |
| 840755 | Pathogenic: ALG9 congenital disorder of glycosylation | 123,743,804(+) |
T/TC NM_012463.4(ATP6V0A2):c.1062dup (p.Ser355fs) |
FRAMESHIFT | |
| 859353 | Uncertain Significance: ALG9 congenital disorder of glycosylation | 123,758,015(+) |
G/A NM_012463.4(ATP6V0A2):c.2554G>A (p.Asp852Asn) |
MISSENSE | |
| 863749 | Uncertain Significance: ALG9 congenital disorder of glycosylation | 123,733,929(+) |
G/C NM_012463.4(ATP6V0A2):c.652G>C (p.Glu218Gln) |
MISSENSE | |
| 871742 | Uncertain Significance: not provided | 123,712,630(+) |
C/T NM_012463.4(ATP6V0A2):c.65C>T (p.Ala22Val) |
MISSENSE |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| 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 |
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
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATP6V0A2 Gene
Disorders for ATP6V0A2 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| wrinkly skin syndrome |
|
|
| cutis laxa, autosomal recessive, type iia |
|
|
| atp6v0a2-related cutis laxa |
|
|
| autosomal recessive cutis laxa type ii classic type |
|
|
| geroderma osteodysplasticum |
|
Search ATP6V0A2 in MalaCards
View complete list of genes associated with diseases
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 variants 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 variants affecting the gene represented in this entry.
Additional Disease Information for ATP6V0A2
- Genetic Association Database
- (GAD)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for Genatlas for ATP6V0A2 Gene
Publications for ATP6V0A2 Gene
- 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 74
- 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 23
- 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
- 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 41
- Vacuolar H+-ATPase meets glycosylation in patients with cutis laxa. (PMID: 19171192) Guillard M … Wevers RA (Biochimica et biophysica acta 2009) 3 23
ExternalLinks
Products for ATP6V0A2 Gene
- Custom Antibody Services
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for ATP6V0A2
- Origene Custom Protein Services for ATP6V0A2
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ATP6V0A2
- Browse OriGene Inhibitory RNA Products For ATP6V0A2
- OriGene qPCR primer pairs for ATP6V0A2
- OriGene qPCR primer pairs and template standards for ATP6V0A2
- OriGene CRISPR knockouts for ATP6V0A2
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For ATP6V0A2
- Sino Biological Human cDNA Clone for ATP6V0A2
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Sino Biological Antibodies for ATP6V0A2
- Browse Sino Biological Assays
- Browse Antibodies
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for ATP6V0A2
- Novus Biologicals proteins for ATP6V0A2
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for ATP6V0A2
- Abcam proteins for ATP6V0A2
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- Invitrogen Antibodies for ATP6V0A2 (AFLGC-ATP6V0A2)
- VectorBuilder Custom and pre-made DNA vectors for ATP6V0A2 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for ATP6V0A2 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for ATP6V0A2 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for ATP6V0A2 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for ATP6V0A2
- antibodies-online: Show 34 available ATP6V0A2 Antibodies ranked by validation data
- Compare Top ATP6V0A2 Antibodies
- antibodies-online: Search results for available ATP6V0A2 related products ranked by validation data
- antibodies-online: Show 4 available ATP6V0A2 Proteins ranked by validation data
- Compare Top ATP6V0A2 Proteins
- Custom Antibody ServicesProSci Antibodies for ATP6V0A2
- Search for ATP6V0A2 Proteins at ProSci
- Horizon Cell Lines for ATP6V0A2
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ATP6V0A2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ATP6V0A2
- Search GeneCopoeia for miRNA 3'UTR Target clone products for ATP6V0A2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATP6V0A2
- Boster Bio Antibodies for ATP6V0A2
- Browse Boster Bio ELISA Kits
Sources for ATP6V0A2 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Mar-2021)
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) MedlinePlus Genetics
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNAcentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Open Targets Platform
- (175) 5SRRNADB
- (176) snoDB
- (177) MirGeneDB