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CTRB2 chymotrypsinogen B2 [ Homo sapiens (human) ]

Gene ID: 440387, updated on 2-Mar-2021

Summary

Official Symbol
CTRB2provided by HGNC
Official Full Name
chymotrypsinogen B2provided by HGNC
Primary source
HGNC:HGNC:2522
See related
Ensembl:ENSG00000168928
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
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 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]
Expression
Restricted expression toward pancreas (RPKM 32305.1) See more
Orthologs
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Genomic context

See CTRB2 in Genome Data Viewer
Location:
16q23.1
Exon count:
7
Annotation release Status Assembly Chr Location
109.20210226 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (75204103..75207161, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (75238001..75241059, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene ZFP1 zinc finger protein Neighboring gene RPS4Y1 pseudogene 1 Neighboring gene uncharacterized LOC100506281 Neighboring gene chymotrypsinogen B1 Neighboring gene BCAR1 scaffold protein, Cas family member

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Phenotypes

Associated conditions

Description Tests
Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ42412

Gene Ontology Provided by GOA

Function Evidence Code Pubs
serine-type endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
cobalamin metabolic process TAS
Traceable Author Statement
more info
 
digestion IEA
Inferred from Electronic Annotation
more info
 
extracellular matrix disassembly TAS
Traceable Author Statement
more info
 
proteolysis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
chymotrypsinogen B2
Names
chymotrypsin B2
NP_001020371.3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001025200.4NP_001020371.3  chymotrypsinogen B2 precursor

    See identical proteins and their annotated locations for NP_001020371.3

    Status: VALIDATED

    Source sequence(s)
    AK225933
    Consensus CDS
    CCDS32489.1
    UniProtKB/Swiss-Prot
    Q6GPI1
    Related
    ENSP00000303963.8, ENST00000303037.13
    Conserved Domains (2) summary
    smart00020
    Location:33256
    Tryp_SPc; Trypsin-like serine protease
    cd00190
    Location:34259
    Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210226

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    75204103..75207161 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_018654723.1 Reference GRCh38.p13 PATCHES

    Range
    34306..40146 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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