CAPN14 calpain 14 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CAPN14provided by HGNC
Official Full Name: calpain 14provided by HGNC
Primary source: HGNC:HGNC:16664
See related: Ensembl:ENSG00000214711 MIM:610229; AllianceGenome:HGNC:16664
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: Calpains are a family of cytosolic calcium-activated cysteine proteases involved in a variety of cellular processes including apoptosis, cell division, modulation of integrin-cytoskeletal interactions, and synaptic plasticity (Dear et al., 2000 [PubMed 10964513]). CAPN14 belongs to the calpain large subunit family.[supplied by OMIM, Mar 2008]
Expression: Restricted expression toward esophagus (RPKM 73.0) See more
Orthologs: all
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Genomic context

Location:: 2p23.1

Exon count:: 26

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (31173056..31233957, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (31217215..31278121, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (31395922..31456823, complement)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Very early onset eosinophilic esophagitis is common, responds to standard therapy, and demonstrates enrichment for CAPN14 genetic variants.
Title: Very early onset eosinophilic esophagitis is common, responds to standard therapy, and demonstrates enrichment for CAPN14 genetic variants.
Pathogenesis of Eosinophilic Esophagitis: A Comprehensive Review of the Genetic and Molecular Aspects.
Title: Pathogenesis of Eosinophilic Esophagitis: A Comprehensive Review of the Genetic and Molecular Aspects.
The risk variant (SNP) in CAPN14 promoter dampens CAPN14 expression in differentiated esophageal epithelial cells following IL-13/STAT6 induction of CAPN14 promoter activity.
Title: Genetic, Inflammatory, and Epithelial Cell Differentiation Factors Control Expression of Human Calpain-14.
CAPN14 is a unique protease with distinct tissue-specific expression and function in patients with EoE and is a potential therapeutic target for EoE and related eosinophilic and allergic diseases
Title: Calpain-14 and its association with eosinophilic esophagitis.
Eosinophilic esophagitis was associate with increased expression of CAPN14.
Title: GWAS identifies four novel eosinophilic esophagitis loci.

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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

EBI GWAS Catalog

Description
Genome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
GWAS identifies four novel eosinophilic esophagitis loci. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	HIV-1 gp120-treated vaginal epithelial cells show upregulation of calpain 14 (CAPN14) expression as compared to untreated control	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G59706 (e-PCR)
- UniSTS:137005

D2S2283 (e-PCR), detects polymorphism
- UniSTS:45537

D2S2741 (e-PCR)
- UniSTS:15598

SHGC-105147 (e-PCR)
- UniSTS:169206

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables calcium-dependent cysteine-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
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: calpain-14

Names: CANP 14; calcium-activated neutral proteinase 14

NP_001138594.1

EC 3.4.22.-

NP_001308199.1

EC 3.4.22.-

XP_011531166.1

EC 3.4.22.-

XP_011531167.1

EC 3.4.22.-

XP_047300363.1

EC 3.4.22.-

XP_054198105.1

EC 3.4.22.-

XP_054198106.1

EC 3.4.22.-

XP_054198107.1

EC 3.4.22.-

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)

NM_001145122.2 → NP_001138594.1 calpain-14 isoform 1

See identical proteins and their annotated locations for NP_001138594.1

Status: VALIDATED

Source sequence(s)

AA743820, AC015980, AK092257, AK296910, DC347418

Consensus CDS

CCDS46254.1

UniProtKB/Swiss-Prot

A8MX76, B3KRU9

UniProtKB/TrEMBL

B7Z467

Related

ENSP00000385247.3, ENST00000403897.4

Conserved Domains (3) summary

pfam00648
Location:44 → 334

Peptidase_C2; Calpain family cysteine protease

pfam01067
Location:348 → 496

Calpain_III; Calpain large subunit, domain III

cl08302
Location:562 → 616

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
NM_001321270.2 → NP_001308199.1 calpain-14 isoform 2

Status: VALIDATED

Source sequence(s)

AC015980, AK092257, BX091474, DC372029

UniProtKB/Swiss-Prot

A8MX76

Conserved Domains (2) summary

pfam01067
Location:172 → 320

Calpain_III; Calpain large subunit, domain III

cl00051
Location:13 → 158

CysPc; Calpains, domains IIa, IIb; calcium-dependent cytoplasmic cysteine proteinases, papain-like. Functions in cytoskeletal remodeling processes, cell differentiation, apoptosis and signal transduction.

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

31173056..31233957 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011532864.4 → XP_011531166.1 calpain-14 isoform X1

See identical proteins and their annotated locations for XP_011531166.1

UniProtKB/Swiss-Prot

A8MX76, B3KRU9

UniProtKB/TrEMBL

B7Z467

Conserved Domains (3) summary

pfam00648
Location:44 → 334

Peptidase_C2; Calpain family cysteine protease

pfam01067
Location:348 → 496

Calpain_III; Calpain large subunit, domain III

cl08302
Location:562 → 616

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
XM_011532865.2 → XP_011531167.1 calpain-14 isoform X1

See identical proteins and their annotated locations for XP_011531167.1

UniProtKB/Swiss-Prot

A8MX76, B3KRU9

UniProtKB/TrEMBL

B7Z467

Conserved Domains (3) summary

pfam00648
Location:44 → 334

Peptidase_C2; Calpain family cysteine protease

pfam01067
Location:348 → 496

Calpain_III; Calpain large subunit, domain III

cl08302
Location:562 → 616

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
XM_047444407.1 → XP_047300363.1 calpain-14 isoform X1

UniProtKB/Swiss-Prot

A8MX76, B3KRU9