CASP12 (caspase 12 (gene/pseudogene))

Gene

• Entrez ID: 100506742
• Gene name: Caspase 12 (gene/pseudogene)
• Gene symbol: CASP12
• Synonyms (NCBI Gene): CASP-12, CASP12P1
• Chromosome: 11
• Chromosome location: 11q22.3
• Summary: 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 g

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs497116	A>G	Likely-benign, risk-factor	Non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT863744	hsa-miR-192	CLIP-seq
MIRT863745	hsa-miR-215	CLIP-seq
MIRT863746	hsa-miR-3613-3p	CLIP-seq
MIRT863747	hsa-miR-4263	CLIP-seq
MIRT863748	hsa-miR-576-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005783	Component	Endoplasmic reticulum	IDA	10638761
GO:0006508	Process	Proteolysis	IEA
GO:0006915	Process	Apoptotic process	IBA	21873635
GO:0006919	Process	Activation of cysteine-type endopeptidase activity involved in apoptotic process	IBA	21873635
GO:0042981	Process	Regulation of apoptotic process	IEA
GO:0050727	Process	Regulation of inflammatory response	IBA	21873635
GO:0072557	Component	IPAF inflammasome complex	IBA	21873635
GO:0072559	Component	NLRP3 inflammasome complex	IBA	21873635
GO:0097153	Function	Cysteine-type endopeptidase activity involved in apoptotic process	IBA	21873635
GO:0097153	Function	Cysteine-type endopeptidase activity involved in apoptotic process	IKR	12054529
GO:0097169	Component	AIM2 inflammasome complex	IBA	21873635
GO:0097190	Process	Apoptotic signaling pathway	IEA
GO:0097194	Process	Execution phase of apoptosis	IEA
GO:0097199	Function	Cysteine-type endopeptidase activity involved in apoptotic signaling pathway	IBA	21873635
GO:0097200	Function	Cysteine-type endopeptidase activity involved in execution phase of apoptosis	IBA	21873635

Other IDs

• MIM: 608633
• HGNC: 19004
• e!Ensembl: HGNC

Protein

• UniProt ID: Q6UXS9
• Protein name: Inactive caspase-12 (CASP-12)
• Protein function: May function as a negative regulator of inflammatory responses and innate immunity. May reduce cytokine release in response to bacterial lipopolysaccharide during infection. Reduces activation of NF-kappa-B in response to TNF (PubMed:15129283).
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00619	CARD	6 → 91	Caspase recruitment domain	Domain
  PF00656	Peptidase_C14	101 → 337		Domain

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed, with highest levels in lung. {ECO:0000269|PubMed:12054529}.
• Sequence:

  MADEKPSNGVLVHMVKLLIKTFLDGIFDDLMENNVLNTDEIHLIGKCLKFVVSNAENLVD
  DITETAQIAGKIFREHLWNSKKQLSSDISSDGEREANMPGLNIRNKEFNYLHNRNGSELD
  LLGMRDLLENLGYSVVIKENLTAQEMETALRQFAAHPEHQSSDSTFLVFMSHSILNGICG
  TKHWDQEPDVLHDDTIFEIFNNRNCQSLKDKPKVIIMQACRGNGAGIVWFTTDSGKASAD
  THGRLLQGNICNDAVTKAHVEKDFIAFKSSTPHNVSWRHETNGSVFISQIIYYFREYSWS
  HHLEEIFQKVQHSFETPNILTQLPTIERLSMTRYFYLFPGN

• Sequence length: 341

Pathways

KEGG:

Protein processing in endoplasmic reticulum
Apoptosis
NOD-like receptor signaling pathway
Alzheimer disease
Amyotrophic lateral sclerosis
Prion disease
Pathways of neurodegeneration - multiple diseases
Hepatitis B

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Diabetes mellitus	Diabetes Mellitus, Insulin-Dependent, Diabetes Mellitus, Ketosis-Prone, Diabetes Mellitus, Sudden-Onset	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs80356663, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs371977235, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261	23499715

Unknown
Disease term	Disease name	Evidence	References	Source
Schizophrenia	Schizophrenia			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Arthritis Rheumatoid	Associate	24515649
Autoimmune Lymphoproliferative Syndrome	Associate	24515649
Breast Neoplasms	Associate	32682809, 35739271
Carcinoma Hepatocellular	Associate	32682809
Diabetes Mellitus	Associate	34140543
Infections	Associate	24515649
Inflammation	Associate	24515649, 28380444, 33924755
Kidney Neoplasms	Associate	19603096
Lymphatic Metastasis	Associate	31804677
Melanoma Cutaneous Malignant	Associate	31557882
Nasopharyngeal Carcinoma	Associate	28380444, 33924755
Neoplasms	Associate	28380444, 31804677
Pancreatic Neoplasms	Associate	32682809
Uterine Cervical Neoplasms	Associate	31804677