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    CAPN12 calpain 12 [ Homo sapiens (human) ]

    Gene ID: 147968, updated on 28-Oct-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
    mouse all
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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 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)

    Genotypes

    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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