Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   
Gene: C12orf57 (chromosome 12 open reading frame 57) Homo sapiens
Analyze
Symbol: C12orf57
Name: chromosome 12 open reading frame 57
RGD ID: 1606749
Description: Involved in several processes, including animal organ development; psychomotor behavior; and regulation of skeletal muscle contraction. Localizes to cytoplasm and nuclear speck. Implicated in Temtamy syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: C10; FLJ17308; gene rich cluster C10; GRCC10; likely ortholog of mouse gene rich cluster, C10; TEMTYS
Orthologs:
Mus musculus (house mouse) : Grcc10 (gene rich cluster, C10 gene)  MGI  Alliance
Rattus norvegicus (Norway rat) : Grcc10 (gene rich cluster, C10 gene)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : LOC102009926 (chromosome unknown open reading frame, human C12orf57)
Pan paniscus (bonobo/pygmy chimpanzee) : C12H12orf57 (chromosome 12 C12orf57 homolog)
Canis lupus familiaris (dog) : C27H12orf57 (chromosome 27 C12orf57 homolog)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : CUNH12orf57 (chromosome unknown C12orf57 homolog)
Sus scrofa (pig) : C5H12orf57 (chromosome 5 C12orf57 homolog)
Chlorocebus sabaeus (African green monkey) : C11H12orf57 (chromosome 11 open reading frame, human C12orf57)
Heterocephalus glaber (naked mole-rat) : CUNH12orf57 (chromosome unknown C12orf57 homolog)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl126,942,978 - 6,946,003 (+)EnsemblGRCh38hg38GRCh38
GRCh38126,943,433 - 6,946,003 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37127,052,146 - 7,055,165 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36126,923,464 - 6,925,426 (+)NCBINCBI36hg18NCBI36
Celera128,671,824 - 8,673,786 (+)NCBI
Cytogenetic Map12p13.31NCBI
HuRef126,909,305 - 6,911,269 (+)NCBIHuRef
CHM1_1127,051,588 - 7,054,153 (+)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

RNA-SEQ Expression

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
 
More on C12orf57
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 1606749
Created: 2007-04-29
Species: Homo sapiens
Last Modified: 2020-10-06
Status: ACTIVE



NHLBI Logo

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