CTRB1 (chymotrypsinogen B1)

2014-11-01  

Identity

HGNC
LOCATION
16q23.1
LOCUSID
ALIAS
CTRB

Other Information

Locus ID:

NCBI: 1504
MIM: 118890
HGNC: 2521
Ensembl: ENSG00000168925

Variants:

dbSNP: 1504
ClinVar: 1504
TCGA: ENSG00000168925
COSMIC: CTRB1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000168925ENST00000361017P17538
ENSG00000168925ENST00000495583J3QKZ2
ENSG00000168925ENST00000642378A0A2R8Y4E9

Expression (GTEx)

0
5000
10000
15000
20000

Pathways

PathwaySourceExternal ID
Pancreatic secretionKEGGko04972
Pancreatic secretionKEGGhsa04972
Protein digestion and absorptionKEGGko04974
Protein digestion and absorptionKEGGhsa04974
MetabolismREACTOMER-HSA-1430728
Metabolism of vitamins and cofactorsREACTOMER-HSA-196854
Metabolism of water-soluble vitamins and cofactorsREACTOMER-HSA-196849
Cobalamin (Cbl, vitamin B12) transport and metabolismREACTOMER-HSA-196741
Extracellular matrix organizationREACTOMER-HSA-1474244
Degradation of the extracellular matrixREACTOMER-HSA-1474228
Activation of Matrix MetalloproteinasesREACTOMER-HSA-1592389

References

Pubmed IDYearTitleCitations
287547792018Genome-wide association study identifies inversion in the CTRB1-CTRB2 locus to modify risk for alcoholic and non-alcoholic chronic pancreatitis.15
198442552010Fine mapping and association studies of a high-density lipoprotein cholesterol linkage region on chromosome 16 in French-Canadian subjects.9
280117112016Protective coding variants in CFH and PELI3 and a variant near CTRB1 are associated with age-related macular degeneration†.4

Citation

Dessen P

CTRB1 (chymotrypsinogen B1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62187/ctrb1