CELA2B

chymotrypsin like elastase 2B, the group of Chymotrypsin like elastases

Basic information

Region (hg38): 1:15465908-15491395

Links

ENSG00000215704 ∙ NCBI:51032 ∙ OMIM:609444 ∙ HGNC:29995 ∙ Uniprot:P08218 ∙ 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 CELA2B gene.

• Inborn genetic diseases (7 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CELA2B gene is commonly pathogenic or not.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous					1	1
missense			4	3		7
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	4	3	1

Variants in CELA2B

This is a list of pathogenic ClinVar variants found in the CELA2B region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
1-15466001-A-T		not specified	Uncertain significance (Nov 17, 2022)
1-15466005-G-A		not specified	Uncertain significance (Feb 16, 2023)
1-15466035-G-A		not specified	Uncertain significance (Mar 11, 2024)
1-15466073-G-A		not specified	Uncertain significance (Feb 08, 2023)
1-15466137-G-C		not specified	Uncertain significance (Mar 08, 2024)
1-15466143-A-G		not specified	Uncertain significance (Jan 23, 2024)
1-15466145-G-C		Hypertensive disorder;Hypertriglyceridemia;Diabetes;Coronary artery disorder • Abdominal obesity-metabolic syndrome 4	Pathogenic (Oct 11, 2019)
1-15467429-G-A		not specified	Likely benign (Dec 21, 2023)
1-15467443-G-A			Uncertain significance (Nov 22, 2022)
1-15467497-G-A		not specified	Uncertain significance (Dec 20, 2023)
1-15467537-C-T		not specified	Uncertain significance (Jan 31, 2023)
1-15476520-C-T		not specified	Likely benign (Oct 05, 2021)
1-15481125-C-A		not specified	Likely benign (Dec 01, 2022)
1-15481143-G-A		not specified	Uncertain significance (Jan 10, 2023)
1-15481177-C-T		not specified	Uncertain significance (Feb 21, 2024)
1-15482276-T-C		not specified	Likely benign (Nov 21, 2023)
1-15482311-G-A		not specified	Uncertain significance (Feb 16, 2023)
1-15482323-G-A		not specified	Uncertain significance (Jan 09, 2024)
1-15482335-G-A		not specified	Uncertain significance (Dec 13, 2023)
1-15483298-G-A		not specified	Uncertain significance (Aug 10, 2021)
1-15485985-G-A		not specified	Uncertain significance (Jun 21, 2023)
1-15486014-G-C		not specified	Uncertain significance (Nov 10, 2022)
1-15487322-A-T		not specified	Uncertain significance (Jan 29, 2024)
1-15487327-C-T		not specified	Uncertain significance (Feb 28, 2024)
1-15487328-G-A		not specified	Likely benign (Mar 06, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CELA2B	protein_coding	protein_coding	ENST00000375910	8	25492

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000257	0.759	125532	1	214	125747	0.000855

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.430	183	167	1.09	0.0000101	1739
Missense in Polyphen		72	61.311	1.1743		678
Synonymous	-1.02	89	77.5	1.15	0.00000573	535
Loss of Function	1.23	11	16.4	0.672	8.01e-7	159

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000937	0.000937
Ashkenazi Jewish	0.00	0.00
East Asian	0.00864	0.00863
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000158	0.000158
Middle Eastern	0.00864	0.00863
South Asian	0.000392	0.000392
Other	0.000978	0.000978

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Acts upon elastin.
• Pathway: Protein digestion and absorption - Homo sapiens (human);Pancreatic secretion - Homo sapiens (human) (Consensus)

Intolerance Scores

• loftool: 0.306
• rvis_EVS: 0.31
• rvis_percentile_EVS: 72.38

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.112
• ghis: 0.408

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0146

Gene Damage Prediction

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

Gene ontology

• Biological process: proteolysis
• Cellular component: extracellular region;extracellular space
• Molecular function: serine-type endopeptidase activity