Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
147007
Gene name Gene Name - the full gene name approved by the HGNC.
Vacuolar ATPase assembly factor VMA12
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
VMA12
Synonyms (NCBI Gene) Gene synonyms aliases
C17orf32, CDG2P, TMEM199, VPH2
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CDG2P
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q11.2
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT043870 hsa-miR-378a-3p CLASH 23622248
MIRT724113 hsa-miR-6736-3p HITS-CLIP 19536157
MIRT724112 hsa-miR-4530 HITS-CLIP 19536157
MIRT724111 hsa-miR-338-3p HITS-CLIP 19536157
MIRT724110 hsa-miR-877-3p HITS-CLIP 19536157
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 25416956, 32296183
GO:0005764 Component Lysosome IEA
GO:0005783 Component Endoplasmic reticulum IDA 28296633
GO:0005789 Component Endoplasmic reticulum membrane IEA
GO:0006879 Process Cellular iron ion homeostasis IMP 28296633
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
616815 18085 ENSG00000244045
Protein
UniProt ID Q8N511
Protein name Vacuolar ATPase assembly protein VMA12 (Transmembrane protein 199)
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

Pfam

Accession ID Position in sequence Description Type
PF11712 Vma12 78 204 Endoplasmic reticulum-based factor for assembly of V-ATPase Family
Sequence
Sequence length 208
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 IIp rs121434387, rs1264383808, rs766244312, rs1555497568, rs1555496968, rs267606740, rs1568296260, rs1562937199, rs28939378, rs121908583, rs1568757730, rs28936415, rs587776874, rs387906831, rs151173406
View all (80 more)
26833330
Hypercholesterolemia Hypercholesterolemia rs28942111, rs28942112, rs137852912, rs121908025, rs28942082, rs28942083, rs121908028, rs121908030, rs28942079, rs28942084, rs121908032, rs387906302, rs387906303, rs121908033, rs121908034
View all (1161 more)