CTRB2 (chymotrypsinogen B2)

Gene

• Entrez ID: 440387
• Gene name: Chymotrypsinogen B2
• Gene symbol: CTRB2
• Synonyms (NCBI Gene): -
• Chromosome: 16
• Chromosome location: 16q23.1
• Summary: This gene encodes a member of the serine protease family of enzymes and forms a principal precursor of the pancreatic proteolytic enzymes. The encoded preproprotein is synthesized in the acinar cells of the pancreas and secreted into the small intestine w

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017370	hsa-miR-335-5p	Microarray	18185580

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004252	Function	Serine-type endopeptidase activity	IBA
GO:0004252	Function	Serine-type endopeptidase activity	IEA
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0006508	Process	Proteolysis	IBA
GO:0006508	Process	Proteolysis	IEA
GO:0007586	Process	Digestion	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0008236	Function	Serine-type peptidase activity	IEA
GO:0016787	Function	Hydrolase activity	IEA

Other IDs

• MIM: 619620
• HGNC: 2522
• e!Ensembl: ENSG00000168928

Protein

• UniProt ID: Q6GPI1
• Protein name: Chymotrypsinogen B2 (EC 3.4.21.1) [Cleaved into: Chymotrypsin B2 chain A; Chymotrypsin B2 chain B; Chymotrypsin B2 chain C]
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00089	Trypsin	34 → 256	Trypsin	Domain

• Sequence:

  MAFLWLLSCWALLGTTFGCGVPAIHPVLSGLSRIVNGEDAVPGSWPWQVSLQDKTGFHFC
  GGSLISEDWVVTAAHCGVRTSDVVVAGEFDQGSDEENIQVLKIAKVFKNPKFSILTVNND
  ITLLKLATPARFSQTVSAVCLPSADDDFPAGTLCATTGWGKTKYNANKTPDKLQQAALPL
  LSNAECKKSWGRRITDVMICAGASGVSSCMGDSGGPLVCQKDGAWTLVGIVSWGSRTCST
  TTPAVYARVAKLIPWVQKILAAN

• Sequence length: 263

Pathways

KEGG:

Pancreatic secretion
Protein digestion and absorption

Reactome:

Activation of Matrix Metalloproteinases
Cobalamin (Cbl, vitamin B12) transport and metabolism

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATROPHIC MACULAR DEGENERATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC NEUROPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WET MACULAR DEGENERATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Alcoholism	Associate	28754779	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Inhibit	34559995	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Associate	23674605	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus Type 1	Associate	21270831	★☆☆☆☆ Found in Text Mining only
Inflammation	Associate	28754779, 34559995	★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Associate	29346644	★☆☆☆☆ Found in Text Mining only
Nonsyndromic Holoprosencephaly	Associate	28754779	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Associate	33517887, 34559995	★☆☆☆☆ Found in Text Mining only
Pancreatitis	Associate	28754779	★☆☆☆☆ Found in Text Mining only
Pancreatitis Chronic	Associate	28754779	★☆☆☆☆ Found in Text Mining only