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CAPN12 calpain 12 [ Homo sapiens (human) ]

Gene ID: 147968, updated on 27-Nov-2024

Summary

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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
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Genomic context

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See CAPN12 in Genome Data Viewer
Location:
19q13.2
Exon count:
22
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (38730192..38744693, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (41534246..41548645, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (39220832..39235114, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene NANOG hESC enhancer GRCh37_chr19:39112860-39113720 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:39114367-39114868 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr19:39121815-39122606 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr19:39122654-39123853 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:39125282-39126240 Neighboring gene eukaryotic translation initiation factor 3 subunit K Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:39127485-39128424 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:39130305-39131243 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10578 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10579 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:39139812-39140010 Neighboring gene Sharpr-MPRA regulatory region 11915 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14582 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:39142765-39143374 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:39143375-39143983 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:39144522-39145390 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr19:39145391-39146259 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10580 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:39148471-39149116 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:39150898-39151588 Neighboring gene actinin alpha 4 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:39155729-39156418 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:39156419-39157108 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:39157109-39157798 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14583 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14584 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14585 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14586 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14587 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:39168839-39169424 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:39173979-39174762 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14589 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14590 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:39184359-39184950 Neighboring gene uncharacterized LOC107985291 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:39193145-39193645 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:39195255-39196024 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:39198444-39199230 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:39208396-39209241 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:39209276-39209996 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:39217269-39218152 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14592 Neighboring gene uncharacterized LOC124904711 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10581 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10582 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14593 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10583 Neighboring gene galectin 7 Neighboring gene galectin 7B

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
  • 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. Calpain 12 Function Revealed through the Study of an Atypical Case of Autosomal Recessive Congenital Ichthyosis. Bochner R, et al. J Invest Dermatol, 2017 Feb. PMID 27769845
  2. Gene structure, chromosomal localization, and expression pattern of Capn12, a new member of the calpain large subunit gene family. Dear TN, et al. Genomics, 2000 Sep 1. PMID 10964513
  3. HIV gp120 induced gene expression signatures in vaginal epithelial cells. Fanibunda SE, et al. Microbes Infect, 2013 Nov. PMID 23867815
  4. Paralog knockout profiling identifies DUSP4 and DUSP6 as a digenic dependence in MAPK pathway-driven cancers. Ito T, et al. Nat Genet, 2021 Dec. PMID 34857952
  5. High-throughput analyses of hnRNP H1 dissects its multi-functional aspect. Uren PJ, et al. RNA Biol, 2016. PMID 26760575, Free PMC Article

See all (12) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
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)

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

Homology

Clone Names

  • MGC20576

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-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)

  1. 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 ...

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_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    38730192..38744693 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047438237.1 → XP_047294193.1  calpain-12 isoform X1

    UniProtKB/Swiss-Prot
    Q6ZSI9

  2. XM_047438239.1 → XP_047294195.1  calpain-12 isoform X5

  3. XM_017026360.3 → XP_016881849.1  calpain-12 isoform X3

  4. XM_017026358.3 → XP_016881847.1  calpain-12 isoform X2

  5. XM_047438238.1 → XP_047294194.1  calpain-12 isoform X4

  6. XM_047438246.1 → XP_047294202.1  calpain-12 isoform X14

    Related
    ENSP00000473156.1, ENST00000601953.5

  7. XM_017026363.3 → XP_016881852.1  calpain-12 isoform X13

  8. XM_047438242.1 → XP_047294198.1  calpain-12 isoform X7

  9. XM_047438245.1 → XP_047294201.1  calpain-12 isoform X12

  10. XM_047438241.1 → XP_047294197.1  calpain-12 isoform X6

  11. XM_047438244.1 → XP_047294200.1  calpain-12 isoform X10

  12. XM_017026362.3 → XP_016881851.1  calpain-12 isoform X11

  13. XM_017026361.3 → XP_016881850.1  calpain-12 isoform X8

  14. XM_047438243.1 → XP_047294199.1  calpain-12 isoform X9

  15. XM_047438240.1 → XP_047294196.1  calpain-12 isoform X6

  16. XM_017026365.3 → XP_016881854.1  calpain-12 isoform X15

RNA

  1. XR_007066625.1 RNA Sequence

  2. XR_007066623.1 RNA Sequence

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_014040929.1 Reference GRCh38.p14 PATCHES

    Range
    139828..154297 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054331942.1 → XP_054187917.1  calpain-12 isoform X1

    UniProtKB/Swiss-Prot
    Q6ZSI9

  2. XM_054331946.1 → XP_054187921.1  calpain-12 isoform X5

  3. XM_054331944.1 → XP_054187919.1  calpain-12 isoform X3

  4. XM_054331943.1 → XP_054187918.1  calpain-12 isoform X2

  5. XM_054331945.1 → XP_054187920.1  calpain-12 isoform X4

  6. XM_054331956.1 → XP_054187931.1  calpain-12 isoform X14

  7. XM_054331955.1 → XP_054187930.1  calpain-12 isoform X13

  8. XM_054331949.1 → XP_054187924.1  calpain-12 isoform X7

  9. XM_054331954.1 → XP_054187929.1  calpain-12 isoform X12

  10. XM_054331948.1 → XP_054187923.1  calpain-12 isoform X6

  11. XM_054331952.1 → XP_054187927.1  calpain-12 isoform X10

  12. XM_054331953.1 → XP_054187928.1  calpain-12 isoform X11

  13. XM_054331950.1 → XP_054187925.1  calpain-12 isoform X8

  14. XM_054331951.1 → XP_054187926.1  calpain-12 isoform X9

  15. XM_054331947.1 → XP_054187922.1  calpain-12 isoform X6

  16. XM_054331957.1 → XP_054187932.1  calpain-12 isoform X15

RNA

  1. XR_008485738.1 RNA Sequence

  2. XR_008485737.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    41534246..41548645 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054319933.1 → XP_054175908.1  calpain-12 isoform X16

  2. XM_054319935.1 → XP_054175910.1  calpain-12 isoform X18

  3. XM_054319939.1 → XP_054175914.1  calpain-12 isoform X3

  4. XM_054319934.1 → XP_054175909.1  calpain-12 isoform X17

  5. XM_054319936.1 → XP_054175911.1  calpain-12 isoform X2

  6. XM_054319951.1 → XP_054175926.1  calpain-12 isoform X24

  7. XM_054319950.1 → XP_054175925.1  calpain-12 isoform X13

  8. XM_054319943.1 → XP_054175918.1  calpain-12 isoform X7

  9. XM_054319946.1 → XP_054175921.1  calpain-12 isoform X23

  10. XM_054319941.1 → XP_054175916.1  calpain-12 isoform X21

  11. XM_054319938.1 → XP_054175913.1  calpain-12 isoform X20

  12. XM_054319942.1 → XP_054175917.1  calpain-12 isoform X6

  13. XM_054319937.1 → XP_054175912.1  calpain-12 isoform X19

  14. XM_054319944.1 → XP_054175919.1  calpain-12 isoform X22

  15. XM_054319948.1 → XP_054175923.1  calpain-12 isoform X10

  16. XM_054319949.1 → XP_054175924.1  calpain-12 isoform X11

  17. XM_054319945.1 → XP_054175920.1  calpain-12 isoform X8

  18. XM_054319947.1 → XP_054175922.1  calpain-12 isoform X9

  19. XM_054319940.1 → XP_054175915.1  calpain-12 isoform X6

  20. XM_054319952.1 → XP_054175927.1  calpain-12 isoform X15

RNA

  1. XR_008485107.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6ZSI9.1 GenPept UniProtKB/Swiss-Prot:Q6ZSI9

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