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 re... See more...

Aliases for CTRB2 Gene

Aliases for CTRB2 Gene

  • Chymotrypsinogen B2 2 3 4 5
  • EC 3.4.21.1 4 50
  • Chymotrypsin B2 3
  • EC 3.4.21 50
  • CTRB2 5

External Ids for CTRB2 Gene

Previous GeneCards Identifiers for CTRB2 Gene

  • GC00U990074
  • GC16M073796
  • GC16M075237
  • GC16M060989

Summaries for CTRB2 Gene

Entrez Gene Summary for CTRB2 Gene

  • 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]

GeneCards Summary for CTRB2 Gene

CTRB2 (Chymotrypsinogen B2) is a Protein Coding gene. Diseases associated with CTRB2 include Pancreatitis and Type 1 Diabetes Mellitus 15. Among its related pathways are Metabolism of water-soluble vitamins and cofactors and Cobalamin (Cbl, vitamin B12) transport and metabolism. Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase activity. An important paralog of this gene is CTRB1.

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CTRB2 Gene

Genomics for CTRB2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CTRB2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16J075206 Promoter/Enhancer 1.1 EPDnew Ensembl ENCODE dbSUPER 263.5 -0.1 -110 1.3 EBF1 HNRNPL EGR2 TCF12 ZFHX2 CTRB2 HSALNG0112726 lnc-BCAR1-2 BCAR1 ENSG00000261783 CTRB1
GH16J075207 Enhancer 0.5 Ensembl ENCODE 263.3 -1.6 -1568 1.5 SAFB HNRNPL CTRB2 HSALNG0112726 lnc-BCAR1-2 ENSG00000261783 BCAR1 ADAT1 CTRB1
GH16J075233 Enhancer 1.3 Ensembl ENCODE dbSUPER 22.7 -27.4 -27440 2.4 BCLAF1 ZNF654 ZNF600 MYC NFIC MXD4 CTCF REST SIN3A BHLHE40 BCAR1 CTRB2 RFWD3 ENSG00000261783 HSALNG0112728 LOC100506281 CTRB1
GH16J075215 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 13.2 -11.0 -10989 5.1 CEBPA BCL11A IRF2 FOXA2 IRF4 EBF1 THRB BHLHE40 MYRF BATF CTRB1 CTRB2 BCAR1 ENSG00000261783 CFDP1 HSALNG0112726
GH16J075260 Promoter/Enhancer 2.3 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 8.1 -57.6 -57572 7.9 ZNF207 ZNF600 MYC SSRP1 JUND ZNF592 ZMYM3 ZNF10 POLR2A NFIC HSALNG0112730 BCAR1 CTRB2 ENSG00000261783 TMEM170A TERF2IP LOC105371344 CTRB1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CTRB2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CTRB2

Top Transcription factor binding sites by QIAGEN in the CTRB2 gene promoter:
  • GATA-1
  • GATA-2
  • GATA-3
  • ITF-2
  • NF-1
  • PPAR-gamma1
  • PPAR-gamma2
  • SREBP-1a
  • SREBP-1b
  • Tal-1beta

Genomic Locations for CTRB2 Gene

Latest Assembly
chr16:75,204,103-75,207,161
(GRCh38/hg38)
Size:
3,059 bases
Orientation:
Minus strand

Previous Assembly
chr16:75,238,001-75,241,059
(GRCh37/hg19 by Entrez Gene)
Size:
3,059 bases
Orientation:
Minus strand

chr16:75,237,994-75,241,083
(GRCh37/hg19 by Ensembl)
Size:
3,090 bases
Orientation:
Minus strand

Alternative Locations (GRCh38/hg38)

  • chr16(PATCHES):34,306-40,146 (-)

Genomic View for CTRB2 Gene

Genes around CTRB2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CTRB2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CTRB2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CTRB2 Gene

Proteins for CTRB2 Gene

  • Protein details for CTRB2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6GPI1-CTRB2_HUMAN
    Recommended name:
    Chymotrypsinogen B2
    Protein Accession:
    Q6GPI1
    Secondary Accessions:
    • A8K707

    Protein attributes for CTRB2 Gene

    Size:
    263 amino acids
    Molecular mass:
    27923 Da
    Quaternary structure:
    No Data Available

neXtProt entry for CTRB2 Gene

Selected DME Specific Peptides for CTRB2 Gene

Q6GPI1:
  • LKIAKVFKN
  • DDFPAGTLC
  • GDSGGPL
  • DVVVAGEFDQGSDEEN
  • WVVTAAHC
  • SGGPLVC
  • FCGGSLI
  • GIVSWGS
  • HFCGGSL
  • WPWQVSL

Post-translational modifications for CTRB2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CTRB2 Gene

Domains & Families for CTRB2 Gene

Gene Families for CTRB2 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for CTRB2 Gene

InterPro:
Blocks:
  • Serine protease, trypsin family
  • Chymotrypsin serine protease family (S1) signature

Suggested Antigen Peptide Sequences for CTRB2 Gene

GenScript: Design optimal peptide antigens:
  • Chymotrypsinogen B2 (CTRB2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6GPI1

UniProtKB/Swiss-Prot:

CTRB2_HUMAN :
  • Belongs to the peptidase S1 family.
Family:
  • Belongs to the peptidase S1 family.
genes like me logo Genes that share domains with CTRB2: view

Function for CTRB2 Gene

Molecular function for CTRB2 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=Preferential cleavage: Tyr-|-Xaa, Trp-|-Xaa, Phe-|-Xaa, Leu-|-Xaa.; EC=3.4.21.1; Evidence={ECO:0000255|PROSITE-ProRule:PRU10078, ECO:0000255|PROSITE-ProRule:PRU10079};.

Enzyme Numbers (IUBMB) for CTRB2 Gene

Phenotypes From GWAS Catalog for CTRB2 Gene

Gene Ontology (GO) - Molecular Function for CTRB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004252 serine-type endopeptidase activity IEA,IBA 21873635
GO:0008233 peptidase activity IEA --
GO:0008236 serine-type peptidase activity IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with CTRB2: view
genes like me logo Genes that share phenotypes with CTRB2: view

miRNA for CTRB2 Gene

miRTarBase miRNAs that target CTRB2

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CTRB2

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CTRB2 Gene

Localization for CTRB2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CTRB2 Gene

Secreted, extracellular space.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CTRB2 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 1
lysosome 0

Gene Ontology (GO) - Cellular Components for CTRB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IEA --
genes like me logo Genes that share ontologies with CTRB2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CTRB2 Gene

Pathways & Interactions for CTRB2 Gene

genes like me logo Genes that share pathways with CTRB2: view

Gene Ontology (GO) - Biological Process for CTRB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA,IBA 21873635
GO:0007586 digestion IEA --
GO:0009235 cobalamin metabolic process TAS --
GO:0022617 extracellular matrix disassembly TAS --
genes like me logo Genes that share ontologies with CTRB2: view

No data available for SIGNOR curated interactions for CTRB2 Gene

Drugs & Compounds for CTRB2 Gene

No Compound Related Data Available

Transcripts for CTRB2 Gene

mRNA/cDNA for CTRB2 Gene

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CTRB2

Alternative Splicing Database (ASD) splice patterns (SP) for CTRB2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b ^ 7
SP1:
SP2:
SP3: - -

Relevant External Links for CTRB2 Gene

GeneLoc Exon Structure for
CTRB2

Expression for CTRB2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CTRB2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CTRB2 Gene

This gene is overexpressed in Pancreas (x52.9).

Protein differential expression in normal tissues from HIPED for CTRB2 Gene

This gene is overexpressed in Pancreatic juice (59.1) and Pancreas (9.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CTRB2 Gene



Protein tissue co-expression partners for CTRB2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CTRB2

SOURCE GeneReport for Unigene cluster for CTRB2 Gene:

Hs.632211

Evidence on tissue expression from TISSUES for CTRB2 Gene

  • Pancreas(5)
genes like me logo Genes that share expression patterns with CTRB2: view

Primer products for research

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CTRB2 Gene

Orthologs for CTRB2 Gene

This gene was present in the common ancestor of animals.

Orthologs for CTRB2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CTRB2 30
  • 96 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia LOC479649 29
  • 87.33 (n)
CTRB1 30
  • 87 (a)
ManyToMany
-- 30
  • 85 (a)
ManyToMany
-- 30
  • 72 (a)
ManyToMany
Mouse
(Mus musculus)
Mammalia Ctrb1 29 16 30
  • 83.9 (n)
OneToMany
Rat
(Rattus norvegicus)
Mammalia Ctrb1 29
  • 83.78 (n)
Cow
(Bos Taurus)
Mammalia LOC100848132 29
  • 83.4 (n)
-- 30
  • 68 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia -- 30
  • 73 (a)
ManyToMany
-- 30
  • 54 (a)
ManyToMany
-- 30
  • 53 (a)
ManyToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 69 (a)
OneToMany
Chicken
(Gallus gallus)
Aves LOC431235 29
  • 71.74 (n)
-- 30
  • 69 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 67 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ctrl 29
  • 64.89 (n)
Zebrafish
(Danio rerio)
Actinopterygii zgc:136461 29 30
  • 70.09 (n)
ManyToMany
zgc:112160 30
  • 64 (a)
ManyToMany
ctrb1 30
  • 38 (a)
ManyToMany
Fruit Fly
(Drosophila melanogaster)
Insecta Jon99Ciii 30
  • 32 (a)
ManyToMany
Jon99Cii 30
  • 32 (a)
ManyToMany
Jon99Fii 30
  • 31 (a)
ManyToMany
Jon66Cii 30
  • 31 (a)
ManyToMany
Jon99Fi 30
  • 31 (a)
ManyToMany
Jon44E 30
  • 31 (a)
ManyToMany
CG10469 30
  • 30 (a)
ManyToMany
Jon25Bi 30
  • 30 (a)
ManyToMany
yip7 30
  • 30 (a)
ManyToMany
Jon25Biii 30
  • 30 (a)
ManyToMany
CG8952 30
  • 30 (a)
ManyToMany
Jon66Ci 30
  • 30 (a)
ManyToMany
CG7542 30
  • 29 (a)
ManyToMany
Jon99Ci 30
  • 29 (a)
ManyToMany
Jon65Aii 30
  • 29 (a)
ManyToMany
CG18179 30
  • 28 (a)
ManyToMany
Jon65Aiii 30
  • 28 (a)
ManyToMany
CG10477 30
  • 28 (a)
ManyToMany
CG10472 30
  • 28 (a)
ManyToMany
Jon65Aiv 30
  • 27 (a)
ManyToMany
Jon65Ai 30
  • 27 (a)
ManyToMany
Jon25Bii 30
  • 27 (a)
ManyToMany
CG18180 30
  • 27 (a)
ManyToMany
CG8329 30
  • 27 (a)
ManyToMany
CG11529 30
  • 27 (a)
ManyToMany
CG3088 30
  • 26 (a)
ManyToMany
CG6462 30
  • 25 (a)
ManyToMany
sphinx2 30
  • 22 (a)
ManyToMany
sphinx1 30
  • 21 (a)
ManyToMany
Jon74E 30
  • 18 (a)
ManyToMany
CG6592 30
  • 17 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 37 (a)
ManyToMany
Species where no ortholog for CTRB2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for CTRB2 Gene

ENSEMBL:
Gene Tree for CTRB2 (if available)
TreeFam:
Gene Tree for CTRB2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CTRB2: view image
Alliance of Genome Resources:
Additional Orthologs for CTRB2

Paralogs for CTRB2 Gene

Paralogs for CTRB2 Gene

Pseudogenes.org Pseudogenes for CTRB2 Gene

genes like me logo Genes that share paralogs with CTRB2: view

Variants for CTRB2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CTRB2 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
rs573232574 Likely Benign: not provided 75,205,406(-) C/T
NM_001025200.4(CTRB2):c.423G>A (p.Leu141=)
SYNONYMOUS
rs4737 -- p.Ala250Thr

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CTRB2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for CTRB2 Gene

Variant ID Type Subtype PubMed ID
dgv1638e59 OTHER inversion 20981092
dgv20n50 OTHER inversion 21212237
dgv25n47 OTHER inversion 21111241
dgv51n16 OTHER inversion 17901297
esv1000574 OTHER inversion 20482838
esv1356452 OTHER inversion 17803354
esv2504659 OTHER inversion 19546169
esv3582318 CNV loss 25503493
esv3582319 CNV loss 25503493
esv3582320 CNV loss 25503493
nsv482197 CNV gain 20164927
nsv516504 CNV gain+loss 19592680
nsv523405 CNV loss 19592680
nsv7286 OTHER inversion 18451855
nsv833282 CNV gain+loss 17160897

Variation tolerance for CTRB2 Gene

Gene Damage Index Score: 0.78; 16.46% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CTRB2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CTRB2
Leiden Open Variation Database (LOVD)
CTRB2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CTRB2 Gene

Disorders for CTRB2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for CTRB2 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
pancreatitis
type 1 diabetes mellitus 15
  • t1d15
- elite association - COSMIC cancer census association via MalaCards
Search CTRB2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CTRB2

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with CTRB2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CTRB2 Gene

Publications for CTRB2 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  2. Genomic cloning and partial characterization of human chymotrypsinogen gene. (PMID: 8186414) Hou DX … Soeda E (The Japanese journal of human genetics 1993) 2 3
  3. Molecular cloning and nucleotide sequence of human pancreatic prechymotrypsinogen cDNA. (PMID: 2917002) Tomita N … Matsubara K (Biochemical and biophysical research communications 1989) 2 3
  4. Sequencing of the complex CTRB1-CTRB2 locus in chronic pancreatitis. (PMID: 33036922) Seltsam K … Rosendahl J (Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.] 2020) 3
  5. The CTRB1-CTRB2 risk allele for chronic pancreatitis discovered in European populations does not contribute to disease risk variation in the Chinese population due to near allele fixation. (PMID: 28951524) Tang XY … Liao Z (Gut 2018) 3

Products for CTRB2 Gene

Sources for CTRB2 Gene