2. Gene
  3. ATP6V0A2 - ATPase H+ transporting V0 subunit a2 Gene

ATP6V0A2 - ATPase H+ transporting V0 subunit a2 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as A2; RTF; TJ6; WSS; a2V; ARCL; J6B7; STV1; TJ6M; TJ6S; VPH1; ARCL2A; ATP6A2; ATP6N1D

Gene ID: 23545 | Gene type: protein coding

About ATP6V0A2

Cytogenetic location: 12q24.31 Genomic coordinates (GRCh38): 12:123,712,353-123,761,755 (from NCBI)

This gene has 13 transcripts (splice variants), 289 orthologues, 3 paralogues and is associated with 5 phenotypes. Ubiquitous expression in lymph node (RPKM 4.1), duodenum (RPKM 4.0) and 25 other tissues.

Summary

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]

ATP6V0A2 Products(1)

mRNA Protein Name
NM_012463.4 NP_036595.2 V-type proton ATPase 116 kDa subunit a 2

ATP6V0A2 Protein Structure

V_ATPase_I

V_ATPase_I: V-type ATPase 116kDa subunit family (26 - 842)

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  • 856 a.a.
Protein Preferred Names Protein Names

V-type proton ATPase 116 kDa subunit a 2

A2V-ATPase

Related Diseases

Diseases Alias
Wrinkly Skin Syndrome

WSS

Wrinkled Skin Syndrome
Cutis Laxa, Autosomal Recessive, Type Iia

ARCL2A

Cutis Laxa With Joint Laxity And Retarded Development

Cutis Laxa With Growth And Developmental Delay

Cutis Laxa, Debre Type

Cutis Laxa With Bone Dystrophy

Arcl2

Cutis Laxa With Congenital Disorder Of Glycosylation

Autosomal Recessive Cutis Laxa Type Iia

Cutis Laxa, Autosomal Recessive Type 2a

Cutis Laxa, Autosomal Recessive, 2a

Cl Type Iia

Cutis Laxa Autosomal Recessive Type Iia
Atp6v0a2-Related Cutis Laxa

Autosomal Recessive Cutis Laxa Type 2a

Arcl2a

Atp6v0a2-Cdg

Cutis Laxa, Autosomal Recessive, Type Iia
Autosomal Recessive Cutis Laxa Type Ii Classic Type

Arcl2, Classic Type

Arcl2, Debre Type

Autosomal Recessive Cutis Laxa Type 2, Classic Type

Autosomal Recessive Cutis Laxa Type 2, Debre Type
Congenital Disorder Of Glycosylation, Type Il

Cdg Il

CDG1L

Cdgil

Congenital Disorder Of Glycosylation Il

Congenital Disorder Of Glycosylation 1l

Cdg-Il

Congenital Disorder Of Glycosylation Type Il

Glycosylation, Congenital Disorder Of, Type Il

Congenital Disorder Of Glycosylation Type 1l
Geroderma Osteodysplasticum

Gerodermia Osteodysplastica

Geroderma Osteodysplastica

GO

Walt Disney Dwarfism

Type Of Gerodermia Osteodysplastica
Cutis Laxa

Generalized Elastolysis

Loose Skin

Dermatolysis

Dermatomegaly

Cutis Laxa Syndrome
Immunodeficiency 47

Congenital Disorder Of Glycosylation Type Ii

CDG2E

Congenital Disorder Of Glycosylation Type Iie

IMD47

Cdg2s

Cdg Iis

Cdgiis

Immunodeficiency And Hepatopathy With Or Without Neurologic Features

Congenital Disorder Of Glycosylation, Type Ii

CDG1I

Congenital Disorder Of Glycosylation, Type Iie

Cdg Iie

Congenital Disorder Of Glycosylation Type 2e

Congenital Disorder Of Glycosylation, Type Iis

Cdg Ii

Cdgii

Cdgiie

Carbohydrate Deficient Glycoprotein Syndrome Type Iie

Cdg Syndrome Type Iie

Congenital Disorder Of Glycosylation Ii

Congenital Disorder Of Glycosylation 1i

Cdg-Iie

Alg2-Cdg

Cdg-Ii

Glycosylation, Congenital Disorder Of, Type Ii

Cdgiide

Congenital Disorder Of Glycosylation Type Iis

Cog7-Cdg

Cdg Syndrome Type Ii

Carbohydrate Deficient Glycoprotein Syndrome Type Ii

Congenital Disorder Of Glycosylation Type 1i

Mannosyltransferase 2 Deficiency

Congenital Disorder Of Glycosylation 2e

Congenital Disorder Of Glycosylation 2s

Congenital Disorders Of Glycosylation Type Ii

Glycosylation, Congenital Disorder Of, Type Iie

Immunodeficiency, Type 47

Congenital Disorder Of Glycosylation Type 2a
Cutis Laxa, Autosomal Recessive, Type Iib

ARCL2B

Cutis Laxa With Progeroid Features

Autosomal Recessive Cutis Laxa Type 2b

Autosomal Recessive Cutis Laxa Type Iib

Arcl2, Progeroid Type

Cutis Laxa, Autosomal Recessive Type 2b

Autosomal Recessive Cutis Laxa Type 2, Progeroid Type

Cutis Laxa, Autosomal Recessive, 2b

Cl Type Iib

Cutis Laxa Autosomal Recessive Type Iib

Cutis Laxa, Autosomal Recessive, Type 2b
Autosomal Recessive Cutis Laxa Type Iii

De Barsy Syndrome

Cutis Laxa-Corneal Clouding-Intellectual Disability Syndrome

Progeroid Syndrome, De Barsy Type

Corneal Clouding, Cutis Laxa And Intellectual Disability

Cutis Laxa Growth Deficiency Syndrome

Progeroid Syndrome Of De Barsy
Cutis Laxa, Autosomal Recessive, Type Iid

ARCL2D

Autosomal Recessive Cutis Laxa Type Iid

Autosomal Recessive Cutis Laxa Type 2d

Cutis Laxa, Autosomal Recessive, 2d
Cutis Laxa, Autosomal Recessive, Type Iiib

ARCL3B

De Barsy Syndrome B

Pycr1-Related De Barsy Syndrome

Autosomal Recessive Cutis Laxa Type Iiib

Pycr1 Deficiency

Pyrroline-5-Carboxylate Reductase 1 Deficiency

Cutis Laxa, Autosomal Recessive, 3b

Cutis Laxa Autosomal Recessive Type Iiib

Cutis Laxa, Autosomal Recessive, Type 3b
Congenital Disorder Of Glycosylation, Type Iio

CDG2O

Ccdc115-Cdg

Cdg Iio

Congenital Disorder Of Glycosylation Type Iio

Cdgiio

Carbohydrate Deficient Glycoprotein Syndrome Type Iio

Cdg Syndrome Type Iio

Congenital Disorder Of Glycosylation Type 2o

Cdg-Iio

Cdgiido

Congenital Disorder Of Glycosylation 2o

Glycosylation, Congenital Disorder Of, Type Iio
Cutis Laxa, Autosomal Recessive, Type Iiia

ARCL3A

De Barsy Syndrome A

Aldh18a1-Related De Barsy Syndrome

Progeroid Syndrome Of De Barsy

Autosomal Recessive Cutis Laxa Type Iiia

P5cs Deficiency

De Barsy Syndrome

Cutis Laxa, Corneal Clouding, And Mental Retardation

Delta-1-Pyrroline 5-Carboxylate Synthetase Deficiency

Neurocutaneous Syndrome, Bicknell Type

Cutis Laxa Corneal Clouding Mental Retardation

Progeroid Syndrome De Barsy Type

Cutis Laxa, Autosomal Recessive, 3a

Cutis Laxa Autosomal Recessive Type Iiia

Developmental Delay-Choreoathetosis-Joint Dislocation-Lax Skin

Neurocutaneous Syndrome Bicknell Type

Corneal Clouding Cutis Laxa Mental Retardation
Occipital Horn Syndrome

OHS

Eds Ix

Cutis Laxa X-Linked

Cutis Laxa, X-Linked

Cutis Laxa, X-Linked, Formerly

Ehlers-Danlos Syndrome, Occipital Horn Type, Formerly

Eds Ix, Formerly

Eds9, Formerly

Ehlers-Danlos Syndrome Type 9

Ehlers-Danlos Syndrome Type Ix

X-Linked Cutis Laxa

Ehlers-Danlos Syndrome, Occipital Horn Type

Eds9

Ehlers-Danlos Syndrome Occipital Horn Type
Congenital Disorder Of Glycosylation, Type Iip

CDG2P

Tmem199-Cdg

Cdg Iip

Congenital Disorder Of Glycosylation Type Iip

Cdgiip

Carbohydrate Deficient Glycoprotein Syndrome Type Iip

Cdg Syndrome Type Iip

Congenital Disorder Of Glycosylation Type 2p

Cdg-Iip

Cdgiidp

Congenital Disorder Of Glycosylation 2p
Cutis Laxa, Autosomal Recessive, Type Ib

ARCL1B

Cutis Laxa, Autosomal Recessive, Type 1b

Autosomal Recessive Cutis Laxa Type Ib

Lethal Arteriopathy Syndrome Due To Fibulin-4 Deficiency

Cutis Laxa, Autosomal Recessive, 1b

Cutis Laxa Autosomal Recessive Type Ib
Osteopetrosis, Autosomal Recessive 6

OPTB6

Autosomal Recessive Osteopetrosis 6

Autosomal Recessive Osteopetrosis Intermediate Form

Osteopetrosis, Autosomal Recessive, Intermediate Form

Osteopetrosis Autosomal Recessive 6

Autosomal Recessive Osteopetrosis Type 6

Osteopetrosis Autosomal Recessive Intermediate Form

Intermediate Osteopetrosis

Autosomal Recessive Intermediate Osteopetrosis

Osteopetrosis, Autosomal Recessive, Type 6
Osteopetrosis

Marble Bone Disease

Albers-Schonberg Disease

Osteopetroses

Marble Bones

Osteopetrosis And Related Disorders

Congenital Osteopetrosis

Marble Bone

Albers-Schoenberg Disease

Albers-Schonberg Osteopetrosis

Osteosclerosis Fragilis

Ivory Bones
Autosomal Recessive Cutis Laxa Type I

Autosomal Recessive Cutis Laxa Type 1

Cutis Laxa, Type 1

Cutis Laxa, Autosomal Recessive, Type I

Cutis Laxa, Autosomal Recessive Type 1

Cutis Laxa, Autosomal Recessive

Arcl1

Autosomal Recessive Cutis Laxa With Severe Systemic Involvement

Autosomal Recessive Cutis Laxa, Pulmonary Emphysema Type
Osteopetrosis, Autosomal Recessive 4

Autosomal Recessive Osteopetrosis 4

OPTB4

Infantile Malignant Osteopetrosis 2

Osteopetrosis, Infantile Malignant 2

Osteopetrosis, Autosomal Recessive, Type 4
Cutis Laxa, Autosomal Recessive, Type Ia

ARCL1A

Cutis Laxa, Autosomal Recessive

Autosomal Recessive Cutis Laxa Type Ia

Cutis Laxa, Autosomal Recessive, Type 1a

Arcl1

Cutis Laxa, Autosomal Recessive, 1a

Cl Type I

Cutis Laxa Autosomal Recessive Type I

Cutis Laxa Autosomal Recessive Type Ia

Cutis Laxa, Autosomal Recessive, Type I
Congenital Disorder Of Glycosylation, Type Iik

CDG2K

Congenital Disorder Of Glycosylation Type Iik

Cdg Iik

Cdgiik

Carbohydrate Deficient Glycoprotein Syndrome Type Iik

Cdg Syndrome Type Iik

Congenital Disorder Of Glycosylation Type 2k

Tmem165-Cdg

Cdg-Iik

Cdgiidk

Congenital Disorder Of Glycosylation 2k

Glycosylation, Congenital Disorder Of, Type Iik
Cutis Laxa, Autosomal Recessive, Type Ic

Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities

ARCL1C

Urban-Rifkin-Davis Syndrome

Cutis Laxa With Severe Pulmonary, Gastrointestinal And Urinary Anomalies

URDS

Autosomal Recessive Cutis Laxa Type Ic

Autosomal Recessive Cutis Laxa Type 1c

Cutis Laxa With Severe Pulmonary Gastrointestinal And Urinary Abnormalities
Cutis Laxa, Autosomal Dominant 1

Cutis Laxa, Autosomal Dominant

Autosomal Dominant Cutis Laxa

ADCL1

Adcl

Autosomal Dominant Cutis Laxa 1

Cutis Laxa, Autosomal Dominant, 1

Cutis Laxa, Autosomal Dominant, Type 1
Congenital Disorder Of Glycosylation, Type In

Congenital Disorder Of Glycosylation

CDG1N

Congenital Disorders Of Glycosylation

Cdg In

Cdgin

Congenital Disorder Of Glycosylation 1n

Carbohydrate-Deficient Glycoprotein Syndrome

Cdg

Rft1-Cdg

Cdg-In

Congenital Disorder Of Glycosylation Type In

Carbohydrate Deficient Glycoprotein Syndrome

Cdg Syndrome

Congenital Disorder Of Glycosylation In

Carbohydrate-Deficient Glycoprotein Syndromes

Cdg Syndrome Type In

Carbohydrate Deficient Glycoprotein Syndrome Type In

Congenital Disorder Of Glycosylation Type 1n

Man5glcnac2-Pp-Dol Flippase Deficiency

Glycosylation, Congenital Disorder Of

Glycosylation, Congenital Disorder Of, Type In
Inguinal Hernia

Hernia Inguinal

Hernia, Inguinal

Inguinal Hernias

Bubonocele

Indirect Inguinal Hernia

Direct Inguinal Hernia

Oblique Inguinal Hernia

Scrotal Hernia

Ih - [Inguinal Hernia]
Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly
Walker-Warburg Syndrome

Hard Syndrome

Walker-Warburg Congenital Muscular Dystrophy

Cerebroocular Dysplasia-Muscular Dystrophy Syndrome

Cod-Md Syndrome

Chemke Syndrome

Hydrocephalus, Agyria And Retinal Dysplasia

Cerebroocular Dysgenesis

Cerebroocular Dysplasia Muscular Dystrophy Syndrome

Hard +/- E Syndrome

Pagon Syndrome

Warburg Syndrome

Hydrocephalus, Agyria, And Retinal Dysplasia

Mddga

Muscular Dystrophy-Dystroglycanopathy , Type A

Muscular Dystrophy-Dystroglycanopathy [With Brain And Eye Anomalies], Type A

Hydrocephalus-Agyria-Retinal Dysplasia Syndrome

Wws

Dystrophy, Muscular, Dystroglycanopathy, Type A
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (3)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-122650 PHY34 Inhibitor / Unkown
HY-RS01217 ATP6V0A2 Human Pre-designed siRNA Set A / Unkown
HY-RS01222 ATP6V0D2 Human Pre-designed siRNA Set A / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus ATP6V0A2 RGD RGD:621006
Felis catus ATP6V0A2 VGNC VGNC:107695
Canis familiaris ATP6V0A2 VGNC VGNC:38269
Mus musculus ATP6V0A2 MGD MGI:104855
Macaca mulatta ATP6V0A2 VGNC VGNC:70096
Bos taurus ATP6V0A2 VGNC VGNC:26308