ATP6V0A2 (GeneID: 23545) | Homo sapiens
Description: ATPase H+ transporting V0 subunit a2 [Source:HGNC Symbol;Acc:HGNC:18481]
Synonyms: STV1, ATP6A2, VPH1, A2, TJ6, J6B7, ARCL2A, TJ6S, TF, ATP6N1D, WSS, ARCL, TJ6M
Other ID(s): HGNC:18481, ENSG00000185344
Protein Accession Numbers: ENST00000544833, ENST00000330342.3, ENST00000534943, ENST00000330342, NP_036595, ENST00000504192
Statistics: ClinVar(151) gnomAD(729) COSMIC(258) PTM(31)
ClinVar Pathogenicity of Variations help

∙ Please click the name of species for the protein accession number used in the alignment.
∙ A p letter used as a pointer to positions of post translational modifications in human.
∙ Protein domains illustrated above belong to Homo sapiens (Human).
∙ ClinVar stacked bar chart represents whole protein isoforms of the gene. Please, check the other protein isoforms of the gene below.
∙ If more than one transcripts below are active (with blue background color), it means all the active transcripts have the same sequence.
ENST00000330342 You are here now! ENST00000504192 ENST00000534943 ENST00000544833 NP_036595 You are here now!


import_contactsClinVar Data
Variation ID filter_list Allele ID filter_list RS Number filter_list Variant Type filter_list Record filter_list Alteration filter_list Clinicial Sig. filter_list Last Update filter_list Phenotypes filter_list Cytogenetic filter_list Review Status filter_list RCV Acc.N. filter_list

healinggnomAD
Variant ID filter_list Transcript ID filter_list Alteration filter_list Annotation filter_list Allele C. filter_list Allele N. filter_list Allele F. filter_list rsNumber filter_list Flagsfilter_list Filter filter_list

placePost-translational Modifications (PTMs)
Gene Name filter_list ACC ID filter_list PTM Type filter_list Position filter_list Mod-rsd filter_list Site +/-7 Aa filter_list Mw_kd filter_list Site grpID filter_list

blur_onCatalogue of Somatic Mutations in Cancer (COSMIC)
Gene Name filter_list Transcript ID filter_list Sample name filter_list Primary Site filter_list Primary Histology filter_list Mutation ID filter_list Mutation CDS filter_list Mutation Aa filter_list Mutation Desc. filter_list FATHMM Prediction filter_list FATHMM Score filter_list Mutation Somatic Status filter_list PUBMED PMID filter_list Tumor Origin filter_list Position filter_list

chrome_reader_modedbSNP
Gene ID filter_list Transcript ID filter_list Consequence filter_list Position filter_list HGVSp filter_list Impact filter_list

format_align_centerProtein Domains (PFAM)
Pfam Domain filter_list Domain Name filter_list Description filter_list Positions filter_list Clan filter_list Clan Name filter_list Organism filter_list
NO RESULT FOUND
PF01496 V_ATPase_I V-type ATPase 116kDa subunit family 27-842 Homo sapiens

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
Ehlers-Danlos Syndrome Cardiovascular Diseases ; Hemic and Lymphatic Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Skin and Connective Tissue Diseases ; 0.584 0.621
Osteogenesis Imperfecta Musculoskeletal Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Skin and Connective Tissue Diseases ; 0.584 0.621
Cutis Laxa, Autosomal Recessive, Type IIA Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Skin and Connective Tissue Diseases ; 0.584 0.621
Congenital Disorders of Glycosylation Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ; 0.584 0.621
Congenital aneurysm of ascending aorta Cardiovascular Diseases ; 0.584 0.621
Wrinkly skin syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Skin and Connective Tissue Diseases ; 0.584 0.621
Epileptic encephalopathy N/A 0.584 0.621
Intellectual Disability Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ; 0.584 0.621
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC N/A 0.584 0.621
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID N/A 0.584 0.621
NO RESULT FOUND
feedback