CTRB2

Chymotrypsinogen B2

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 where it undergoes proteolytic activation to generate a functional enzyme. This CTRB2 gene is located head-to-head with the related CTRB1 gene. Some human populations have an alternate haplotype which inverts a 16.6 Kb region containing portions of intron 1, exon 1, and the upstream sequence of the CTRB1 and CTRB2 genes. In this inversion haplotype exon 1 and flanking sequence is swapped in CTRB1 and CTRB2. This inversion is associated with differential gene expression and increased risk for chronic pancreatitis. The GRCh38 assembly represents the minor allele for SNP rs8048956 of the CTRB1 gene. SNP rs8048956 is diagnostic for this inversion. [provided by RefSeq, Jan 2021]

Ensembl	UniProt	RefSeq	Entrez
ENST00000303037 ENSP00000303963	Q6GPI1.127 Q6GPI1	NP_001020371.3 NP_001020371	CTRB2 440387
ENST00000562106 ENSP00000454599	H3BMY1		CTRB2 440387
ENST00000562387 ENSP00000455207	H3BP92		CTRB2 440387
ENST00000567767 ENSP00000457279	H3BTQ4		CTRB2 440387