CAPN12 calpain 12 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CAPN12provided by HGNC
Official Full Name: calpain 12provided by HGNC
Primary source: HGNC:HGNC:13249
See related: Ensembl:ENSG00000182472 MIM:608839; AllianceGenome:HGNC:13249
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: The calpains, calcium-activated neutral proteases, are nonlysosomal, intracellular cysteine proteases. The mammalian calpains include ubiquitous, stomach-specific, and muscle-specific proteins. The ubiquitous enzymes consist of heterodimers with distinct large, catalytic subunits associated with a common small, regulatory subunit. This gene encodes a member of the calpain large subunit family. [provided by RefSeq, Jun 2012]
Expression: Ubiquitous expression in gall bladder (RPKM 14.2), spleen (RPKM 9.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19q13.2

Exon count:: 22

Annotation release	Status	Assembly	Chr	Location
110	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (38730192..38744693, complement)
110	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (41534246..41548426, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (39220832..39235114, complement)

Chromosome 19 - NC_000019.10 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?

calpain 12 plays an essential role during epidermal ontogenesis and normal hair follicle cycling.
Title: Calpain 12 Function Revealed through the Study of an Atypical Case of Autosomal Recessive Congenital Ichthyosis.

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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

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 12 (CAPN12) 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

SHGC-16522 (e-PCR)
- UniSTS:66920

RH16012 (e-PCR)
- UniSTS:20642

Homology

Homologs of the CAPN12 gene: The CAPN12 gene is conserved in chimpanzee, dog, cow, mouse, rat, and frog.
Orthologs from Annotation Pipeline: 201 organisms have orthologs with human gene CAPN12
Orthologs

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	PubMed

Process	Evidence Code	Pubs
involved_in proteolysis	IBA Inferred from Biological aspect of Ancestor more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info	PubMed

General protein information

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Preferred Names: calpain-12

Names: CANP 12; calcium-activated neutral proteinase 12

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_144691.4 → NP_653292.2 calpain-12

See identical proteins and their annotated locations for NP_653292.2

Status: VALIDATED

Source sequence(s)

AC022144, AK127398, BE872274, DA384049

Consensus CDS

CCDS12519.1

UniProtKB/Swiss-Prot

Q6ZSI9

Related

ENSP00000331636.3, ENST00000328867.9

Conserved Domains (3) summary

cd00214
Location:352 → 530

Calpain_III; Calpain, subdomain III. Calpains are calcium-activated cytoplasmic cysteine proteinases, participate in cytoskeletal remodeling processes, cell differentiation, apoptosis and signal transduction. Catalytic domain and the two calmodulin-like domains are ...

pfam00648
Location:46 → 339

Peptidase_C2; Calpain family cysteine protease

cl08302
Location:626 → 681

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 ...