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Gene: C19orf12 (chromosome 19 open reading frame 12) Homo sapiens
Symbol: C19orf12
Name: chromosome 19 open reading frame 12
Description: Involved in several processes, including autophagy; mitochondrial calcium ion homeostasis; and response to oxidative stress. Localizes to the cytosol; endoplasmic reticulum; and mitochondrial membrane. Implicated in hereditary spastic paraplegia 43 and neurodegeneration with brain iron accumulation 4.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: DKFZp762D096; hypothetical protein LOC83636; membrane protein-associated neurodegeneration; MGC10922; MPAN; NBIA3; NBIA4; neurodegeneration with brain iron accumulation 3; neurodegeneration with brain iron accumulation 4; spastic paraplegia 43 (autosomal recessive); SPG43; uncharacterized protein C19orf12
Mus musculus (house mouse) : 1600014C10Rik (RIKEN cDNA 1600014C10 gene)  MGI  Alliance
Rattus norvegicus (Norway rat) : LOC690000 (similar to CG3740-PA)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : LOC102011427 (chromosome unknown open reading frame, human C19orf12)
Pan paniscus (bonobo/pygmy chimpanzee) : C19H19orf12 (chromosome 19 C19orf12 homolog)
Canis lupus familiaris (dog) : C1H19orf12 (chromosome 1 C19orf12 homolog)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : CUNH19orf12 (chromosome unknown C19orf12 homolog)
Sus scrofa (pig) : C6H19orf12 (chromosome 6 C19orf12 homolog)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh381929,698,886 - 29,715,789 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371930,189,793 - 30,206,696 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361934,881,633 - 34,898,292 (-)NCBINCBI36hg18NCBI36
Build 341934,883,914 - 34,897,952NCBI
Celera1926,887,993 - 26,904,652 (-)NCBI
Cytogenetic Map19q12NCBI
HuRef1926,701,836 - 26,718,525 (-)NCBIHuRef
CHM1_11930,191,134 - 30,208,046 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Phenotype Annotations
References - curated
References - uncurated


Comparative Map Data
Position Markers
miRNA Target Status



Nucleotide Sequences
Protein Sequences
Clinical Variants

Additional Information

External Database Links
More on C19orf12
Alliance Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1319491
Created: 2005-01-12
Species: Homo sapiens
Last Modified: 2019-10-29
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.