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CELA2B chymotrypsin like elastase 2B [ Homo sapiens (human) ]

Gene ID: 51032, updated on 2-Nov-2024

Summary

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Official Symbol
CELA2Bprovided by HGNC
Official Full Name
chymotrypsin like elastase 2Bprovided by HGNC
Primary source
HGNC:HGNC:29995
See related
Ensembl:ENSG00000215704 MIM:609444; AllianceGenome:HGNC:29995
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ELA2B
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. 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. [provided by RefSeq, Jul 2008]
Expression
Restricted expression toward pancreas (RPKM 4511.4) See more
Orthologs
all
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Genomic context

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See CELA2B in Genome Data Viewer
Location:
1p36.21
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (15476104..15491395)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (14920804..14936095)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (15802599..15817890)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene chymotrypsin C Neighboring gene uncharacterized LOC105376767 Neighboring gene chymotrypsin like elastase 2A Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:15809342-15809842 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:15809843-15810343 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:15826802-15827302 Neighboring gene caspase 9 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:15831890-15832390 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:15835827-15836756 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 304 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 305 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:15852999-15853502 Neighboring gene Sharpr-MPRA regulatory region 4011 Neighboring gene DnaJ heat shock protein family (Hsp40) member C16 Neighboring gene small Cajal body-specific RNA 21B

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Inactivity of recombinant ELA2B provides a new example of evolutionary elastase silencing in humans. Szepessy E, et al. Pancreatology, 2006. PMID 16327289, Free PMC Article
  2. Characterization of pancreatic elastase II cDNAs: two elastase II mRNAs are expressed in human pancreas. Kawashima I, et al. DNA, 1987 Apr. PMID 3646943
  3. Primary structure of human pancreatic elastase 2 determined by sequence analysis of the cloned mRNA. Fletcher TS, et al. Biochemistry, 1987 Nov 17. PMID 3427074
  4. Comparative gene expression profiling of in vitro differentiated megakaryocytes and erythroblasts identifies novel activatory and inhibitory platelet membrane proteins. Macaulay IC, et al. Blood, 2007 Apr 15. PMID 17192395, Free PMC Article
  5. Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity. Hosgood HD 3rd, et al. Occup Environ Med, 2009 Dec. PMID 19773279, Free PMC Article

See all (14) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Observational study of gene-disease association. (HuGE Navigator)
    Title: Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Potential readthrough

Included gene: CELA2A

Homology

Clone Names

  • MGC97052, MGC142100, MGC142102

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables serine-type endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in proteolysis IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in extracellular region TAS
Traceable Author Statement
more info
 PubMed 
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
chymotrypsin-like elastase family member 2B
Names
RP11-265F14.2
chymotrypsin like elastase family member 2B
elastase 2B
pancreatic elastase IIB (ELA2B)
NP_056933.3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_015849.3 → NP_056933.3  chymotrypsin-like elastase family member 2B preproprotein

    Status: REVIEWED

    Source sequence(s)
    AL512883
    Consensus CDS
    CCDS30605.1
    UniProtKB/Swiss-Prot
    P08218, Q14D16, Q6ISM5, Q96QV5
    UniProtKB/TrEMBL
    Q6ISP9
    Related
    ENSP00000365075.3, ENST00000375910.8
    Conserved Domains (1) summary
    cd00190
    Location:31 → 265
    Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    15476104..15491395
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    14920804..14936095
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P08218.2 GenPept UniProtKB/Swiss-Prot:P08218

Gene LinkOut

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