Gene
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
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CDG2O
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.
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.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005764 Component Lysosome IEA
GO:0005768 Component Endosome IEA
GO:0005783 Component Endoplasmic reticulum IDA 28296633
GO:0005793 Component Endoplasmic reticulum-Golgi intermediate compartment IDA 26833332
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
613734 28178 ENSG00000136710
Protein
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
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Congenital disorder of glycosylation CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo, CCDC115-CDG rs121434387, rs1264383808, rs766244312, rs1555497568, rs1555496968, rs267606740, rs1568296260, rs1562937199, rs28939378, rs121908583, rs1568757730, rs28936415, rs587776874, rs387906831, rs151173406
View all (80 more)
26833332
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Hypercholesterolemia Hypercholesterolemia rs28942111, rs28942112, rs137852912, rs121908025, rs28942082, rs28942083, rs121908028, rs121908030, rs28942079, rs28942084, rs121908032, rs387906302, rs387906303, rs121908033, rs121908034
View all (1161 more)
Unknown
Disease term Disease name Evidence References Source
Cirrhosis Cirrhosis ClinVar