CELA3B

protein-coding

chymotrypsin like elastase 3B, the group of Chymotrypsin like elastases

Gene summary

Elastases form a subfamily of serine proteases that hydrolyze many proteins in addition to elastin. Humans have six elastase genes which encode the structurally similar proteins elastase 1, 2, 2A, 2B, 3A, and 3B. Unlike other elastases, elastase 3B has little elastolytic activity. Like most of the human elastases, elastase 3B is secreted from the pancreas as a zymogen and, like other serine proteases such as trypsin, chymotrypsin and kallikrein, it has a digestive function in the intestine. Elastase 3B preferentially cleaves proteins after alanine residues. Elastase 3B may also function in the intestinal transport and metabolism of cholesterol. Both elastase 3A and elastase 3B have been referred to as protease E and as elastase 1, and excretion of this protein in fecal material is frequently used as a measure of pancreatic function in clinical assays. [provided by RefSeq, May 2009]

Previous symbols:

ELA3B

MANE transcript

NM_007352.4

Inheritance

—

ClinVar variants

U:48B:12

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 1.09

Max pathogenic AF

—

Genomic locus

chr1:21,977,022-21,998,642

External References & Databases

Ensembl (ENSG00000219073)

Transcript & Mutation Effects

hg38 • Region Span ~21.6 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to CELA3B variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 51

not providedTotal: 9

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_007352.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous				1 clinvar	3 clinvar	4
missense			48 clinvar	6 clinvar	1 clinvar	55
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)				1 clinvar		1
Total	0	0	48	8	4	60

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 6 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_007352.4	RefSeq	NP_031378.1	8	MANE Select
ENST00000337107.11	Ensembl	ENSP00000338369.6	8	MANE Select
ENST00000400277.2	Ensembl	ENSP00000383135.2	5	Standard
XM_047416580.1	RefSeq	XP_047272536.1	8	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Protein digestion and absorption - Homo sapiens (human)
Pancreatic secretion - Homo sapiens (human)

Biological Process

proteolysis

Molecular Function

serine-type endopeptidase activity
peptidase activity

Cellular Component

extracellular space

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000337107
Coding exons: 8
Length: 21622
Individuals with no LoFs: 125438
Homozygous LoFs: 0
Heterozygous LoFs: 309
Defined: 125747
p: 0.00123

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.809	208	178	1.17	0.0000112	1730
Missense (PolyPhen)		83	68.16	1.2177		724
Synonymous	-0.737	80	72.0	1.11	0.00000508	542
Loss of Function	-0.342	17	15.5	1.09	7.62e-7	159

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00012	0.00012	rare
Latino/Admixed American	0.00081	0.00081	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0.0047	0.0047	notable
European (Non-Finnish)	0.0014	0.0014	notable
South Asian	0.00036	0.00033	rare
Other	0.0011	0.0011	notable

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Efficient protease with alanine specificity but only little elastolytic activity.;

Intolerance Scores

LoFtool: 0.276
RVIS EVS: 1.73
RVIS percentile EVS: 96.6

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.401

Gene Damage Prediction

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