Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   
Gene: CASP12 (caspase 12 (gene/pseudogene)) Homo sapiens
Analyze
Symbol: CASP12
Name: caspase 12 (gene/pseudogene)
Description: Caspases are cysteine proteases that cleave C-terminal aspartic acid residues on their substrate molecules. This gene is most highly related to members of the ICE subfamily of caspases that process inflammatory cytokines. In rodents, the homolog of this gene mediates apoptosis in response to endoplasmic reticulum stress. However, in humans this gene contains a polymorphism for the presence or absence of a premature stop codon. The majority of human individuals have the premature stop codon and produce a truncated non-functional protein. The read-through codon occurs primarily in individuals of African descent and carriers have endotoxin hypo-responsiveness and an increased susceptibility to severe sepsis. Several alternatively spliced transcript variants have been noted for this gene. [provided by RefSeq, Feb 2011]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CASP-12; CASP12P1; caspase 12; caspase 12 pseudogene 1; inactive caspase-12
Orthologs:
Mus musculus (house mouse) : Casp12 (caspase 12)  MGI  Alliance
Rattus norvegicus (Norway rat) : Casp12 (caspase 12)  Alliance
Canis lupus familiaris (dog) : CASP12 (caspase 12)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3811104,885,718 - 104,898,670 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh3711104,756,445 - 104,769,397 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3611104,262,627 - 104,274,607 (-)NCBINCBI36hg18NCBI36
Build 3411104,262,626 - 104,274,607NCBI
Cytogenetic Map11q22.3NCBI
HuRef11100,688,549 - 100,700,548 (-)NCBIHuRef
CHM1_111104,639,398 - 104,652,341 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


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

Genomics

Comparative Map Data
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
 
More on CASP12
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 1348077
Created: 2005-03-08
Species: Homo sapiens
Last Modified: 2019-09-12
Status: ACTIVE



NHLBI Logo

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