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CAPN8 calpain 8 [ Homo sapiens (human) ]

Gene ID: 388743, updated on 27-Nov-2024

Summary

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Official Symbol
CAPN8provided by HGNC
Official Full Name
calpain 8provided by HGNC
Primary source
HGNC:HGNC:1485
See related
Ensembl:ENSG00000203697 MIM:618777; AllianceGenome:HGNC:1485
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
Also known as
nCL-2
Summary
Predicted to enable calcium-dependent cysteine-type endopeptidase activity and identical protein binding activity. Predicted to be involved in proteolysis. Predicted to act upstream of or within calcium-dependent self proteolysis. Predicted to be located in Golgi apparatus. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Nov 2024]
Annotation information
Note: This gene aligns across a gap in the GRCh38 reference genome assembly, and therefore, the 5' end of this gene was annotated on NT_167186.2 and the 3' end was annotated on NT_004487.20 in NCBI's Homo sapiens Annotation Release 106. [17 Jun 2014]
Annotation category: suggests misassembly
Expression
Biased expression in stomach (RPKM 65.0), lung (RPKM 7.1) and 2 other tissues See more
Orthologs
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Genomic context

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See CAPN8 in Genome Data Viewer
Location:
1q41
Exon count:
24
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (223541616..223665701, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (222780346..222855423, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (223714979..223853403, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:223567321-223567822 Neighboring gene coiled-coil domain containing 185 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:223660470-223660970 Neighboring gene uncharacterized LOC105373034 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2589 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2590 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:223815955-223817154 Neighboring gene SNRPE pseudogene 10 Neighboring gene uncharacterized LOC105373281 Neighboring gene RNA, U6 small nuclear 1248, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:223888788-223889634 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:223894361-223895560 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:223895561-223896060 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2591 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:223899927-223900878 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_5382 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:223906461-223907308 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:223915193-223915853 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:223919231-223919826 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:223921601-223922461 Neighboring gene uncharacterized LOC105373046 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:223926031-223926546 Neighboring gene calpain 2

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. A novel tissue-specific calpain species expressed predominantly in the stomach comprises two alternative splicing products with and without Ca(2+)-binding domain. Sorimachi H, et al. J Biol Chem, 1993 Sep 15. PMID 7690035
  2. Both the conserved and the unique gene structure of stomach-specific calpains reveal processes of calpain gene evolution. Hata S, et al. J Mol Evol, 2001 Sep. PMID 11523006
  3. The CAPN2/CAPN8 Locus on Chromosome 1q Is Associated with Variation in Serum Alpha-Carotene Concentrations. D'Adamo CR, et al. J Nutrigenet Nutrigenomics, 2016. PMID 28002826, Free PMC Article
  4. The calpain family and human disease. Huang Y, et al. Trends Mol Med, 2001 Aug. PMID 11516996
  5. Stomach-specific calpain, nCL-2/calpain 8, is active without calpain regulatory subunit and oligomerizes through C2-like domains. Hata S, et al. J Biol Chem, 2007 Sep 21. PMID 17646163

See all (17) citations in PubMed

GeneRIFs: Gene References Into Functions

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)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

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
located_in Golgi apparatus IEA
Inferred from Electronic Annotation
more info
  
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
calpain-8
Names
new calpain 2
stomach-specific M-type calpain
NP_001137434.1
XP_016856754.1
XP_016856755.1
XP_016856756.1
XP_016856757.1
XP_054192504.1
XP_054192505.1
XP_054192506.1
XP_054192507.1

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_001143962.2 → NP_001137434.1  calpain-8

    See identical proteins and their annotated locations for NP_001137434.1

    Status: VALIDATED

    Source sequence(s)
    BC157893, BG187068, BM739137, BM843240, DA874912, FO681503
    Consensus CDS
    CCDS73038.1
    UniProtKB/Swiss-Prot
    A6NHC0, B2RXL2
    Related
    ENSP00000355837.6, ENST00000366872.10
    Conserved Domains (4) summary
    PTZ00183
    Location:618 → 692
    PTZ00183; centrin; Provisional
    cd00051
    Location:580 → 635
    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 ...
    pfam00648
    Location:46 → 342
    Peptidase_C2; Calpain family cysteine protease
    pfam01067
    Location:356 → 509
    Calpain_III; Calpain large subunit, domain III

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
    223541616..223665701 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017001265.2 → XP_016856754.1  calpain-8 isoform X1

  2. XM_017001266.2 → XP_016856755.1  calpain-8 isoform X2

  3. XM_017001267.3 → XP_016856756.1  calpain-8 isoform X3

  4. XM_017001268.2 → XP_016856757.1  calpain-8 isoform X4

    UniProtKB/TrEMBL
    B1B154
    Related
    ENSP00000355838.2, ENST00000366873.6

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    222780346..222855423 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054336529.1 → XP_054192504.1  calpain-8 isoform X1

  2. XM_054336530.1 → XP_054192505.1  calpain-8 isoform X2

  3. XM_054336531.1 → XP_054192506.1  calpain-8 isoform X3

  4. XM_054336532.1 → XP_054192507.1  calpain-8 isoform X4

    UniProtKB/TrEMBL
    B1B154
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
A6NHC0.3 GenPept UniProtKB/Swiss-Prot:A6NHC0

Gene LinkOut

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