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Gene: C19orf12 (chromosome 19 open reading frame 12) Homo sapiens
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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
Orthologs:
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
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
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)
Model


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

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression


Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
 
More on C19orf12
Alliance Gene
NCBI 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



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