VMA22 (vacuolar ATPase assembly factor VMA22)

Gene
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
84317
Gene name Gene Name - the full gene name approved by the HGNC.
Vacuolar ATPase assembly factor VMA22
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
VMA22
Synonyms (NCBI Gene) Gene synonyms aliases
CCDC115, CDG2O, ccp1
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q21.1
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
613734 28178 ENSG00000136710
Protein
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Congenital Disorder Of Glycosylation ccdc115-cdg rs751325113 N/A