Homo sapiens Gene: C19orf12
Summary
InnateDB Gene IDBG-41803.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol C19orf12
Gene Name chromosome 19 open reading frame 12
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000131943
Encoded Proteins
chromosome 19 open reading frame 12
chromosome 19 open reading frame 12
chromosome 19 open reading frame 12
chromosome 19 open reading frame 12
chromosome 19 open reading frame 12
chromosome 19 open reading frame 12
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a small transmembrane protein. Mutations in this gene are a cause of neurodegeneration with brain iron accumulation-4 (NBIA4), but the specific function of the encoded protein is unknown. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
Gene Information
Type Protein coding
Genomic Location Chromosome 19:29698886-29715789
Strand Reverse strand
Band q12
Transcripts
ENST00000323670 ENSP00000313332
ENST00000342680 ENSP00000345497
ENST00000392278 ENSP00000376103
ENST00000392276 ENSP00000376102
ENST00000392275
ENST00000591243 ENSP00000467516
ENST00000592153 ENSP00000467117
ENST00000623113 ENSP00000485413
ENST00000614091 ENSP00000482097
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 3 [view]
Protein-Protein 3 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
Biological Process
GO:0008219 cell death
Cellular Component
GO:0005739 mitochondrion
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0016021 integral component of membrane
GO:0031966 mitochondrial membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene
RefSeq NM_001031726 NM_001256046 NM_001256047 NM_001282929 NM_001282930 NM_001282931 NM_031448
HUGO
OMIM
CCDS CCDS12418 CCDS42542 CCDS59373 CCDS74325
HPRD 12696
IMGT
EMBL
GenPept
RNA Seq Atlas