CTRB2

chymotrypsinogen B2

Basic information

Region (hg38): 16:75204103-75207161

Links

ENSG00000168928 ∙ NCBI:440387 ∙ OMIM:619620 ∙ HGNC:2522 ∙ Uniprot:Q6GPI1 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CTRB2 gene.

• not_specified (41 variants)
• not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CTRB2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001025200.4. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1		1
missense			40	1		41
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	40	2	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CTRB2	protein_coding	protein_coding	ENST00000303037	7	3090

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000367	0.632	125515	1	16	125532	0.0000677

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.344	124	114	1.09	0.00000713	1676
Missense in Polyphen		31	30.935	1.0021		516
Synonymous	-2.10	72	52.6	1.37	0.00000395	535
Loss of Function	0.679	6	8.08	0.742	3.49e-7	127

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.000924	0.000870
Finnish	0.00	0.00
European (Non-Finnish)	0.00000883	0.00000882
Middle Eastern	0.000924	0.000870
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.340

Haploinsufficiency Scores

• pHI: 0.0297
• hipred: N
• hipred_score: 0.146
• ghis: 0.420

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.346

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Ctrb1

Gene ontology

• Biological process: proteolysis;digestion;cobalamin metabolic process;extracellular matrix disassembly
• Cellular component: extracellular region;extracellular space
• Molecular function: serine-type endopeptidase activity;serine-type peptidase activity