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FLASH GENE

Symbol

CASP12

contributors: shn - updated : 17-11-2009

HGNC name	caspase 12 (gene/pseudogene)
HGNC id	19004

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	11q22.3      Physical location : 104.756.444 - 104.769.397
Synonym name	caspase 12 pseudogene 1
	caspase 12
Synonym symbol(s)	CASP12P1

DNA

TYPE	functioning gene
STRUCTURE	11.98 kb     7 Exon(s)

text structure

pseudogene transcribed

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type

text	majority of human individuals have the premature stop codon and produce a truncated non-functional protein

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NR_000035 7 - 1306 - 341 - -

EXPRESSION

Type

expressed in

(based on citations)

organ(s)

System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart       moderately Digestive intestine large intestine colon   lowly   intestine small intestine     highly   liver       moderately   stomach       moderately Endocrine pancreas       highly Lymphoid/Immune spleen       moderately Reproductive male system testis     lowly   male system prostate     highly Respiratory lung       highly Urinary kidney       moderately

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic bone marrow     lowly Muscular striatum skeletal   lowly

cells

System Cell Pubmed Species Stage Rna symbol Visual epithelial cell

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

interspecies	ortholog to Casp12, Rattus norvegicus
	ortholog to Casp12, Mus musculus
	homolog to LOC466766, Pan troglodytes

Homologene

FAMILY

CATEGORY

immunity/defense

SUBCELLULAR LOCALIZATION

basic FUNCTION	essential for this endoplastic reticulum stress-induced apoptosis
	a mediator of apoptosis induced by endoplasmic reticulum stress including amyloid-beta cytotoxicity, and might contribute to the pathogenesis of Alzheimer's disease (Saleh 2004)
	attenuates the inflammatory and innate immune response to endotoxins (Saleh 2004)
	seems to be the cFLIP (CASP8 and FADD-like apoptosis regulator) counterpart for regulating the inflammatory branch of the caspase cascade (Saleh 2006)
	involved in apoptosis in retinal degeneration in rd1 mouse, an animal model of retinitis pigmentosa (Sanges 2006)
	modulates inflammatory responses n human retinal pigment epithelial cells (Bian 2008)

CELLULAR PROCESS	cell life, cell death/apoptosis

PHYSIOLOGICAL PROCESS

inflammation

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	TNF receptor-associated factor 2 (TRAF2)
	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) (HSPA5 also known as GRP78)

cell & other

REGULATION

activated by

TRAF2 (tumor necrosis factor receptor-associated factor 2)

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional       gain of function with HSPA5 were upregulated in cardiomyocytes in the diastolic heart failure resulting from hypertension )

Susceptibility

may constitute a risk factor for developing sepsis (Saleh 2004)

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

caspase-12 deficiency mouse exhibits enhanced vulnerability to bacterial infection and septic mortality (Saleh 2006)