CELA2B

Summary

CELA2B (chymotrypsin like elastase 2B, HGNC:29995) is a protein-coding gene on chromosome 1p36.21, encoding Chymotrypsin-like elastase family member 2B (P08218). Acts upon elastin.

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. Like most of the human elastases, elastase 2B is secreted from the pancreas as a zymogen. In other species, elastase 2B has been shown to preferentially cleave proteins after leucine, methionine, and phenylalanine residues.

Source: NCBI Gene 51032 — RefSeq curated summary.

At a glance

• GWAS associations: 16
• Clinical variants (ClinVar): 64 total
• MANE Select transcript: NM_015849

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29995
Approved symbol	CELA2B
Name	chymotrypsin like elastase 2B
Location	1p36.21
Locus type	gene with protein product
Status	Approved
Aliases	RP11-265F14.2, ELA2B
Ensembl gene	ENSG00000215704
Ensembl biotype	protein_coding
OMIM	609444
Entrez	51032

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 2 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000375910, ENST00000422901, ENST00000488764, ENST00000494280

RefSeq mRNA: 1 — MANE Select: NM_015849 NM_015849

CCDS: CCDS30605

Canonical transcript exons

ENST00000375910 — 8 exons

Exon	Start	End
ENSE00001603754	15483264	15483400
ENSE00001617452	15485901	15486046
ENSE00001836986	15491295	15491395
ENSE00002725094	15476104	15476165
ENSE00003478327	15481098	15481195
ENSE00003550386	15482265	15482393
ENSE00003617286	15476457	15476545
ENSE00003679688	15487285	15487437

Expression profiles

Bgee: expression breadth ubiquitous, 162 present calls, max score 99.42.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 3.0911 / max 5601.5055, expressed in 13 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
880	2.8470	13
872	0.1323	1
875	0.0653	2
874	0.0247	1
873	0.0219	1

Top tissues by expression

285 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
body of pancreas	UBERON:0001150	99.42	gold quality
pancreas	UBERON:0001264	94.71	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	88.52	gold quality
islet of Langerhans	UBERON:0000006	86.63	gold quality
epithelial cell of pancreas	CL:0000083	83.42	gold quality
pancreatic ductal cell	CL:0002079	80.61	silver quality
tendon of biceps brachii	UBERON:0008188	72.89	gold quality
left adrenal gland cortex	UBERON:0035825	70.97	gold quality
left adrenal gland	UBERON:0001234	70.90	gold quality
right adrenal gland cortex	UBERON:0035827	70.56	gold quality
right adrenal gland	UBERON:0001233	69.44	gold quality
adrenal cortex	UBERON:0001235	68.75	gold quality
lower esophagus mucosa	UBERON:0035834	68.73	gold quality
right hemisphere of cerebellum	UBERON:0014890	66.61	gold quality
adrenal gland	UBERON:0002369	66.56	gold quality
left ovary	UBERON:0002119	66.13	gold quality
cerebellar hemisphere	UBERON:0002245	66.06	gold quality
cerebellar cortex	UBERON:0002129	65.85	gold quality
stromal cell of endometrium	CL:0002255	65.01	gold quality
triceps brachii	UBERON:0001509	64.92	gold quality
gluteal muscle	UBERON:0002000	64.71	gold quality
buccal mucosa cell	CL:0002336	64.25	gold quality
cerebellum	UBERON:0002037	63.95	gold quality
ectocervix	UBERON:0012249	63.16	gold quality
right ovary	UBERON:0002118	63.11	gold quality
adrenal tissue	UBERON:0018303	62.62	gold quality
ovary	UBERON:0000992	62.40	gold quality
adenohypophysis	UBERON:0002196	61.51	gold quality
endocervix	UBERON:0000458	61.46	gold quality
popliteal artery	UBERON:0002250	61.33	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-GEOD-81547	yes	2778.90
E-ENAD-27	yes	848.72
E-MTAB-5061	yes	17.91
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	ela2	ENSDARG00000056744
danio_rerio	ela2l	ENSDARG00000056765
mus_musculus	Cela2a	ENSMUSG00000058579
rattus_norvegicus	Cela2a	ENSRNOG00000013628

Paralogs (6): CELA1 (ENSG00000139610), CELA2A (ENSG00000142615), CELA3A (ENSG00000142789), PRTN3 (ENSG00000196415), ELANE (ENSG00000197561), CELA3B (ENSG00000219073)

Protein

Protein identifiers

Chymotrypsin-like elastase family member 2B — P08218 (reviewed: P08218)

Alternative names: Elastase-2B

All UniProt accessions (2): P08218, Q5JRU4

UniProt curated annotations — full annotation on UniProt →

Function. Acts upon elastin.

Subcellular location. Secreted.

Tissue specificity. Pancreas.

Similarity. Belongs to the peptidase S1 family. Elastase subfamily.

RefSeq proteins (1): NP_056933* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001254	Trypsin_dom	Domain
IPR001314	Peptidase_S1A	Family
IPR009003	Peptidase_S1_PA	Homologous_superfamily
IPR018114	TRYPSIN_HIS	Active_site
IPR033116	TRYPSIN_SER	Active_site
IPR043504
IPR050850	Peptidase_S1_Elastase_sf	Family

Pfam: PF00089

UniProt features (15 total): disulfide bond 4, sequence variant 4, active site 3, signal peptide 1, propeptide 1, chain 1, domain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P08218-F1	92.37	0.83

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (3): 73 (charge relay system); 121 (charge relay system); 216 (charge relay system)

Disulfide bonds (4): 212–243, 58–74, 155–222, 186–202

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 87 (showing top): GOBP_REGULATION_OF_CELL_ACTIVATION, MORF_MSH3, GOBP_PLATELET_ACTIVATION, MORF_BRCA1, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, MORF_RAD51L3, GOBP_WOUND_HEALING, GOBP_CELL_CELL_ADHESION, GOBP_REGULATION_OF_PLATELET_AGGREGATION, MODULE_109, TAKEDA_TARGETS_OF_NUP98_HOXA9_FUSION_10D_UP, MODULE_165, MODULE_88, GOBP_REGULATION_OF_HOMOTYPIC_CELL_CELL_ADHESION, GOBP_HOMOTYPIC_CELL_CELL_ADHESION

GO Biological Process (1): proteolysis (GO:0006508)

GO Molecular Function (5): serine-type endopeptidase activity (GO:0004252), protein binding (GO:0005515), peptidase activity (GO:0008233), serine-type peptidase activity (GO:0008236), hydrolase activity (GO:0016787)

GO Cellular Component (2): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
protein metabolic process	1
endopeptidase activity	1
serine-type peptidase activity	1
binding	1
hydrolase activity	1
catalytic activity, acting on a protein	1
peptidase activity	1
serine hydrolase activity	1
catalytic activity	1
cellular anatomical structure	1

Protein interactions and networks

STRING

713 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CELA2B	ELN	P15502	632
CELA2B	DNAJC16	Q9Y2G8	507
CELA2B	SLC19A4P	Q53S99	448
CELA2B	FAM219A	Q8IW50	400
CELA2B	A2M	P01023	396
CELA2B	CUZD1	Q86UP6	386
CELA2B	PNLIP	P16233	370
CELA2B	ZNF511	Q8NB15	368
CELA2B	FAM24B	Q8N5W8	348
CELA2B	ERP27	Q96DN0	346
CELA2B	CPA1	P15085	342
CELA2B	SERPINI2	O75830	319
CELA2B	PLA2G1B	P04054	305
CELA2B	TMEM52	Q8NDY8	301
CELA2B	REG1B	P48304	298

IntAct

15 interactions, top by confidence:

A	B	Type	Score
CELA2B	CALCOCO2	psi-mi:“MI:0915”(physical association)	0.560
CELA2B	KRTAP3-1	psi-mi:“MI:0915”(physical association)	0.560
CELA2B	ZDHHC15	psi-mi:“MI:0915”(physical association)	0.560
CELA2B	AURKA	psi-mi:“MI:0914”(association)	0.530
CELA2B		psi-mi:“MI:0915”(physical association)	0.400
CELA2B	HSPA5	psi-mi:“MI:0914”(association)	0.350
CELA2A	CELA2B	psi-mi:“MI:0914”(association)	0.350
CELA2B	CALCOCO2	psi-mi:“MI:0915”(physical association)	0.000
CELA2B	KRTAP3-1	psi-mi:“MI:0915”(physical association)	0.000
CELA2B	ZDHHC15	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (54): KRT40 (Two-hybrid), STXBP3 (Affinity Capture-MS), GRN (Affinity Capture-MS), MRE11A (Affinity Capture-MS), NBN (Affinity Capture-MS), UBE3A (Affinity Capture-MS), ATXN2 (Affinity Capture-MS), RAD50 (Affinity Capture-MS), AURKA (Affinity Capture-MS), COL4A2 (Affinity Capture-MS), TP53 (Affinity Capture-MS), FTSJ2 (Affinity Capture-MS), RPUSD2 (Affinity Capture-MS), C16orf70 (Affinity Capture-MS), CD109 (Affinity Capture-MS)

ESM2 similar proteins: A0A126GUP6, A0A1S4H5M5, A0A6J1W8N1, B5U2W0, F5HKX0, O19023, O46644, O97366, P00772, P00773, P00774, P05208, P05805, P06871, P06872, P07477, P07478, P08217, P08218, P08419, P08861, P09093, P13582, P16049, P21902, P47796, P55091, P80009, P80010, Q29461, Q2VG86, Q3SYP2, Q49QW1, Q5R1M5, Q7M3E1, Q7M4I3, Q7PEV7, Q7QBP4, Q867B0, Q8I6K0

Diamond homologs: A0A126GUP6, A0A1S4GMJ4, A8JUP7, B5U2W0, G3V801, O08762, O46683, O60235, O97366, O97370, P00741, P00745, P00746, P00747, P00748, P00749, P04070, P05049, P08217, P08218, P08419, P10323, P12545, P13582, P14272, P15120, P16227, P21902, P23578, P26262, P29293, P29598, P29787, P31394, P33587, P35035, P35036, P35037, P35038, P35041

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

64 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	49
Likely benign	8
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

1854 predictions. Top by Δscore:

Variant	Effect	Δscore
1:15465997:A:AG	acceptor_gain	1.0000
1:15465998:G:GC	acceptor_gain	1.0000
1:15465998:GC:G	acceptor_gain	1.0000
1:15465998:GCC:G	acceptor_gain	1.0000
1:15465998:GCCA:G	acceptor_gain	1.0000
1:15467538:GGTAA:G	donor_loss	1.0000
1:15467539:GTAA:G	donor_loss	1.0000
1:15467540:T:G	donor_loss	1.0000
1:15476163:GAGGT:G	donor_loss	1.0000
1:15476164:AGGTA:A	donor_loss	1.0000
1:15476165:GGT:G	donor_loss	1.0000
1:15476166:G:GA	donor_loss	1.0000
1:15476167:T:A	donor_loss	1.0000
1:15481093:CCCA:C	acceptor_loss	1.0000
1:15481094:CCA:C	acceptor_loss	1.0000
1:15481095:CAG:C	acceptor_loss	1.0000
1:15481191:ATCAG:A	donor_loss	1.0000
1:15481192:TCAGG:T	donor_loss	1.0000
1:15481193:CAGGT:C	donor_loss	1.0000
1:15481194:AGGTA:A	donor_loss	1.0000
1:15481195:GG:G	donor_loss	1.0000
1:15481197:T:G	donor_loss	1.0000
1:15482263:A:AG	acceptor_gain	1.0000
1:15482264:G:GG	acceptor_gain	1.0000
1:15483396:GCAGA:G	donor_gain	1.0000
1:15483399:GA:G	donor_gain	1.0000
1:15483401:G:GG	donor_gain	1.0000
1:15485897:TCA:T	acceptor_loss	1.0000
1:15485898:CAGCC:C	acceptor_loss	1.0000
1:15485899:A:AG	acceptor_gain	1.0000

AlphaMissense

1747 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:15483387:G:C	W160C	0.995
1:15483387:G:T	W160C	0.995
1:15487332:G:C	W229C	0.993
1:15487332:G:T	W229C	0.993
1:15487428:G:C	W261C	0.993
1:15487428:G:T	W261C	0.993
1:15483274:G:C	A123P	0.991
1:15476542:G:C	W42C	0.990
1:15476542:G:T	W42C	0.990
1:15483372:C:G	C155W	0.989
1:15483269:A:T	D121V	0.988
1:15476540:T:A	W42R	0.987
1:15476540:T:C	W42R	0.987
1:15486011:T:A	C202S	0.987
1:15486012:G:C	C202S	0.987
1:15483269:A:C	D121A	0.986
1:15483385:T:A	W160R	0.986
1:15483385:T:C	W160R	0.986
1:15483371:G:A	C155Y	0.985
1:15487309:T:A	C222S	0.985
1:15487310:G:C	C222S	0.985
1:15487399:T:C	F252L	0.985
1:15487401:C:A	F252L	0.985
1:15487401:C:G	F252L	0.985
1:15483278:T:C	L124P	0.984
1:15483370:T:C	C155R	0.984
1:15487426:T:A	W261R	0.984
1:15487426:T:C	W261R	0.984
1:15483275:C:A	A123D	0.983
1:15485963:T:A	C186S	0.983

dbSNP variants (sampled 300 via entrez): RS1000144571 (1:15490532 A>C), RS1000689687 (1:15480474 G>C), RS1000881486 (1:15486349 G>A), RS1000964687 (1:15474916 G>A,C), RS1001148117 (1:15491673 T>C), RS1001254249 (1:15479868 G>A), RS1002015547 (1:15475236 C>T), RS1002242523 (1:15480902 T>A), RS1002257656 (1:15475016 G>A), RS1002373190 (1:15486603 T>C), RS1002430349 (1:15486754 T>A,C), RS1002965517 (1:15491714 C>A,T), RS1003257836 (1:15476426 C>T), RS1003381360 (1:15487514 G>A,T), RS1003432182 (1:15487869 T>C)

Disease associations

OMIM: gene MIM:609444 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

16 associations (top):

Study	Trait	p-value
GCST004860_132	Alcoholic chronic pancreatitis	2.000000e-10
GCST004860_133	Alcoholic chronic pancreatitis	8.000000e-09
GCST004860_18	Alcoholic chronic pancreatitis	1.000000e-07
GCST004860_35	Alcoholic chronic pancreatitis	6.000000e-09
GCST004860_43	Alcoholic chronic pancreatitis	3.000000e-22
GCST004860_47	Alcoholic chronic pancreatitis	3.000000e-06
GCST004860_67	Alcoholic chronic pancreatitis	8.000000e-10
GCST004860_68	Alcoholic chronic pancreatitis	2.000000e-07
GCST004860_69	Alcoholic chronic pancreatitis	6.000000e-07
GCST004860_81	Alcoholic chronic pancreatitis	1.000000e-16
GCST004860_94	Alcoholic chronic pancreatitis	1.000000e-11
GCST007135_4	Resistant hypertension	1.000000e-06
GCST007876_63	Estimated glomerular filtration rate	4.000000e-16
GCST008129_1	Body mass index	9.000000e-10
GCST010989_167	Body size at age 10	5.000000e-11
GCST90002384_526	Hemoglobin	5.000000e-10

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:1002006	treatment-resistant hypertension
EFO:0004340	body mass index
EFO:0009819	comparative body size at age 10, self-reported
EFO:0004509	hemoglobin measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

12 total (human), top 12 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	affects cotreatment, increases expression	1
2-methyl-4-isothiazolin-3-one	increases expression	1
tebuconazole	decreases expression	1
Air Pollutants	increases abundance, increases expression	1
Benzo(a)pyrene	affects methylation	1
Cadmium	decreases expression	1
Dexamethasone	affects cotreatment, increases expression	1
Indomethacin	affects cotreatment, increases expression	1
Triclosan	increases expression	1
1-Methyl-3-isobutylxanthine	affects cotreatment, increases expression	1
Aflatoxin B1	increases methylation	1
Particulate Matter	increases expression, increases abundance	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.