VMA22 (vacuolar ATPase assembly factor VMA22)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 84317
Gene name Vacuolar ATPase assembly factor VMA22
Gene symbol VMA22
Synonyms (NCBI Gene)
CCDC115CDG2Occp1
Chromosome 2
Chromosome location 2q21.1
miRNA miRNA information provided by mirtarbase database.
1459
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (1459)
miRTarBase ID miRNA Experiments Reference
MIRT005224 hsa-let-7b-5p pSILAC 18668040
MIRT005224 hsa-let-7b-5p Proteomics;Other 18668040
MIRT508589 hsa-miR-187-3p HITS-CLIP 21572407
MIRT508588 hsa-miR-4766-5p HITS-CLIP 21572407
MIRT453009 hsa-miR-93-3p HITS-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (19)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183, 33961781
GO:0005764 Component Lysosome IEA
GO:0005768 Component Endosome IEA
GO:0005773 Component Vacuole IEA
GO:0005783 Component Endoplasmic reticulum IDA 28296633
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
613734 28178 ENSG00000136710
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96NT0
Protein name Vacuolar ATPase assembly protein VMA22 (Coiled-coil domain-containing protein 115)
Protein function Accessory component of the proton-transporting vacuolar (V)-ATPase protein pump involved in intracellular iron homeostasis. In aerobic conditions, required for intracellular iron homeostasis, thus triggering the activity of Fe(2+) prolyl hydroxy
Family and domains
Tissue specificity TISSUE SPECIFICITY: Expressed throughout the brain. {ECO:0000269|PubMed:16378758}.
Sequence 
MAALDLRAELDSLVLQLLGDLEELEGKRTVLNARVEEGWLSLAKARYAMGAKSVGPLQYA
SHMEPQVCLHASEAQEGLQKFKVVRAGVHAPEEVGPREAGLRRRKGPTKTPEPESSEAPQ
DPLNWFGILVPHSLRQAQASFRDGLQLAADIASLQNRIDWGRSQLRGLQEKLKQLEPGAA
Sequence length 180
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
CCDC115-CDG Pathogenic rs751325113 RCV000208585
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital disorders of glycosylation type II Pathogenic rs751325113 RCV000210795
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (5)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Adrenocortical carcinoma, hereditary Uncertain significance ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CCDC115 CONGENITAL DISORDER OF GLYCOSYLATION — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CCDC115-related disorder Likely benign; Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIO — CTD, HPO
CTD, HPO
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (23)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of prostate Prostate adenocarcinoma BEFREE 29890952
★★★★★
★☆☆☆☆
Found in Text Mining only
CCDC115-CDG Congenital Disorder Of Glycosylation Orphanet
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cholestatic liver disease Cholestatic liver disease HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Cirrhosis Cirrhosis HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo Congenital disorder of glycosylation GENOMICS_ENGLAND_DG 26833332
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo Congenital disorder of glycosylation UNIPROT_DG 26833332
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo Congenital disorder of glycosylation ORPHANET_DG 26833332
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo Congenital disorder of glycosylation CLINVAR_DG
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo Congenital disorder of glycosylation CTD_human_DG
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Congenital Disorders of Glycosylation Congenital disorder of glycosylation BEFREE 29759592
★★★★★
★☆☆☆☆
Found in Text Mining only