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Aliases for CAPN6 Gene

Aliases for CAPN6 Gene

  • Calpain 6 2 3 5
  • Calpain-Like Protease X-Linked 3 4
  • Calpamodulin 3 4
  • CANPX 3 4
  • CalpM 3 4
  • DJ914P14.1 3
  • Calpain-6 3
  • EC 3.4.22 61
  • CAPNX 3

External Ids for CAPN6 Gene

Previous GeneCards Identifiers for CAPN6 Gene

  • GC0XM105791
  • GC0XM107635
  • GC0XM108513
  • GC0XM109252
  • GC0XM110294
  • GC0XM110374
  • GC0XM110488
  • GC0XM100116

Summaries for CAPN6 Gene

Entrez Gene Summary for CAPN6 Gene

  • Calpains are ubiquitous, well-conserved family of calcium-dependent, cysteine proteases. The calpain proteins are heterodimers consisting of an invariant small subunit and variable large subunits. The large subunit possesses a cysteine protease domain, and both subunits possess calcium-binding domains. Calpains have been implicated in neurodegenerative processes, as their activation can be triggered by calcium influx and oxidative stress. The protein encoded by this gene is highly expressed in the placenta. Its C-terminal region lacks any homology to the calmodulin-like domain of other calpains. The protein lacks critical active site residues and thus is suggested to be proteolytically inactive. The protein may play a role in tumor formation by inhibiting apoptosis and promoting angiogenesis. [provided by RefSeq, Nov 2009]

GeneCards Summary for CAPN6 Gene

CAPN6 (Calpain 6) is a Protein Coding gene. Diseases associated with CAPN6 include Leiomyosarcoma and Corneal Dystrophy, Posterior Polymorphous, 1. Among its related pathways are Arrhythmogenic right ventricular cardiomyopathy (ARVC) and DREAM Repression and Dynorphin Expression. GO annotations related to this gene include microtubule binding and calcium-dependent cysteine-type endopeptidase activity. An important paralog of this gene is CAPN5.

UniProtKB/Swiss-Prot for CAPN6 Gene

  • Microtubule-stabilizing protein that may be involved in the regulation of microtubule dynamics and cytoskeletal organization. May act as a regulator of RAC1 activity through interaction with ARHGEF2 to control lamellipodial formation and cell mobility. Does not seem to have protease activity as it has lost the active site residues (By similarity).

Tocris Summary for CAPN6 Gene

  • Calpains are a group of calcium-sensitive cysteine proteases that are ubiquitously expressed in mammals. Structurally, calpains contain two subunits; an 80 kDa catalytic subunit and a 28 kDa regulatory subunit that functions as a chaperone to stabilize the 80 kDa structure.

No data available for Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CAPN6 Gene

Genomics for CAPN6 Gene

Regulatory Elements for CAPN6 Gene

Enhancers for CAPN6 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XF111282 0.2 ENCODE 4.1 -12.6 -12562 2.2 CHRDL1 CAPN6 GC0XP111369
GH0XF111268 0.2 ENCODE 0.8 +1.8 1780 1.0 CHRDL1 CAPN6 GC0XP111245
GH0XF111269 0.6 ENCODE 0.8 +0.5 481 1.1 JUND PRDM10 CAPN6 GC0XP111245
GH0XF111263 0.5 ENCODE 0.4 +6.4 6421 1.0 RAD21 CAPN6 GC0XP111245
GH0XF111261 0.2 ENCODE 0.4 +8.4 8393 1.6 ZNF512 PRDM1 CAPN6 GC0XP111245
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around CAPN6 on UCSC Golden Path with GeneCards custom track

Promoters for CAPN6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001918379 246 600 JUND PRDM10

Genomic Location for CAPN6 Gene

Chromosome:
X
Start:
111,245,099 bp from pter
End:
111,270,546 bp from pter
Size:
25,448 bases
Orientation:
Minus strand

Genomic View for CAPN6 Gene

Genes around CAPN6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CAPN6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CAPN6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CAPN6 Gene

Proteins for CAPN6 Gene

  • Protein details for CAPN6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y6Q1-CAN6_HUMAN
    Recommended name:
    Calpain-6
    Protein Accession:
    Q9Y6Q1
    Secondary Accessions:
    • D3DUY7
    • Q9UEQ1
    • Q9UJA8

    Protein attributes for CAPN6 Gene

    Size:
    641 amino acids
    Molecular mass:
    74576 Da
    Quaternary structure:
    • Interacts (via domain III) with microtubules. Interacts (via domain II) with ARHGEF2 (via the N-terminal zinc finger).

neXtProt entry for CAPN6 Gene

Selected DME Specific Peptides for CAPN6 Gene

Q9Y6Q1:
  • YAGIFHF
  • LLEKAYAK

Post-translational modifications for CAPN6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CAPN6 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cloud-Clone Corp. Antibodies for CAPN6

Domains & Families for CAPN6 Gene

Gene Families for CAPN6 Gene

Suggested Antigen Peptide Sequences for CAPN6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y6Q1

UniProtKB/Swiss-Prot:

CAN6_HUMAN :
  • Contains 1 C2 domain.
  • Belongs to the peptidase C2 family.
Domain:
  • Contains 1 C2 domain.
  • Contains 1 calpain catalytic domain.
Family:
  • Belongs to the peptidase C2 family.
genes like me logo Genes that share domains with CAPN6: view

Function for CAPN6 Gene

Molecular function for CAPN6 Gene

GENATLAS Biochemistry:
calpain,class C,large polypeptide,likely lacking a protease activity,papain superfamily,nCL-3 type,expressed only in placenta,homolog to C elegans sex determination gene tra3
UniProtKB/Swiss-Prot Function:
Microtubule-stabilizing protein that may be involved in the regulation of microtubule dynamics and cytoskeletal organization. May act as a regulator of RAC1 activity through interaction with ARHGEF2 to control lamellipodial formation and cell mobility. Does not seem to have protease activity as it has lost the active site residues (By similarity).

Enzyme Numbers (IUBMB) for CAPN6 Gene

Gene Ontology (GO) - Molecular Function for CAPN6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004198 calcium-dependent cysteine-type endopeptidase activity IEA,TAS --
GO:0008017 microtubule binding IEA,ISS --
genes like me logo Genes that share ontologies with CAPN6: view
genes like me logo Genes that share phenotypes with CAPN6: view

Animal Models for CAPN6 Gene

MGI Knock Outs for CAPN6:

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CAPN6 Gene

Localization for CAPN6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CAPN6 Gene

Cytoplasm, perinuclear region. Cytoplasm, cytoskeleton, spindle. Note=During mitose associated with the mitotic spindle. At telophase colocalized to the midbody spindle.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CAPN6 Gene COMPARTMENTS Subcellular localization image for CAPN6 gene
Compartment Confidence
cytoskeleton 5
cytosol 4
nucleus 2
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for CAPN6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005737 cytoplasm IEA --
GO:0005819 spindle IEA --
GO:0005856 cytoskeleton IEA --
GO:0005874 microtubule IEA --
genes like me logo Genes that share ontologies with CAPN6: view

Pathways & Interactions for CAPN6 Gene

genes like me logo Genes that share pathways with CAPN6: view

Pathways by source for CAPN6 Gene

1 Sino Biological pathway for CAPN6 Gene
1 BioSystems pathway for CAPN6 Gene

Gene Ontology (GO) - Biological Process for CAPN6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001578 microtubule bundle formation ISS --
GO:0006508 proteolysis IEA --
GO:0051493 regulation of cytoskeleton organization ISS --
genes like me logo Genes that share ontologies with CAPN6: view

No data available for SIGNOR curated interactions for CAPN6 Gene

Drugs & Compounds for CAPN6 Gene

(1) Drugs for CAPN6 Gene - From: Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Acetyl-Calpastatin (184-210) (human) Pharma Calpain I/II inhibitor, Selective calpain inhibitor 0

(1) Additional Compounds for CAPN6 Gene - From: Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
MG 132
133407-82-6

(2) Tocris Compounds for CAPN6 Gene

Compound Action Cas Number
Acetyl-Calpastatin (184-210) (human) Selective calpain inhibitor 123714-50-1
MG 132 Proteasome and calpain inhibitor. Inhibits NF-kappaB activation 133407-82-6
genes like me logo Genes that share compounds with CAPN6: view

Transcripts for CAPN6 Gene

mRNA/cDNA for CAPN6 Gene

(1) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(162) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CAPN6 Gene

Calpain 6:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CAPN6 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13a · 13b
SP1: -
SP2: - - - -
SP3: - - - - -
SP4: -
SP5:

Relevant External Links for CAPN6 Gene

GeneLoc Exon Structure for
CAPN6
ECgene alternative splicing isoforms for
CAPN6

Expression for CAPN6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CAPN6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CAPN6 Gene

This gene is overexpressed in Uterus (x10.3).

Protein differential expression in normal tissues from HIPED for CAPN6 Gene

This gene is overexpressed in Placenta (65.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CAPN6 Gene



NURSA nuclear receptor signaling pathways regulating expression of CAPN6 Gene:

CAPN6

SOURCE GeneReport for Unigene cluster for CAPN6 Gene:

Hs.496593

mRNA Expression by UniProt/SwissProt for CAPN6 Gene:

Q9Y6Q1-CAN6_HUMAN
Tissue specificity: Expressed only in placenta.
genes like me logo Genes that share expression patterns with CAPN6: view

Primer Products

No data available for Protein tissue co-expression partners for CAPN6 Gene

Orthologs for CAPN6 Gene

This gene was present in the common ancestor of animals.

Orthologs for CAPN6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CAPN6 34 35
  • 99.32 (n)
dog
(Canis familiaris)
Mammalia CAPN6 34 35
  • 92.98 (n)
cow
(Bos Taurus)
Mammalia CAPN6 34 35
  • 91.63 (n)
rat
(Rattus norvegicus)
Mammalia Capn6 34
  • 90.28 (n)
mouse
(Mus musculus)
Mammalia Capn6 34 16 35
  • 90.12 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CAPN6 35
  • 54 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CAPN6 35
  • 52 (a)
OneToOne
chicken
(Gallus gallus)
Aves CAPN6 34 35
  • 62.25 (n)
lizard
(Anolis carolinensis)
Reptilia CAPN6 35
  • 51 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii CR847986.1 35
  • 40 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea tra-3 36 35
  • 36 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3869 35
  • 26 (a)
OneToMany
Species where no ortholog for CAPN6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for CAPN6 Gene

ENSEMBL:
Gene Tree for CAPN6 (if available)
TreeFam:
Gene Tree for CAPN6 (if available)

Paralogs for CAPN6 Gene

(7) SIMAP similar genes for CAPN6 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with CAPN6: view

Variants for CAPN6 Gene

Sequence variations from dbSNP and Humsavar for CAPN6 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
VAR_036048 A colorectal cancer sample
rs193921059 Uncertain significance 111,246,746(-) CAGCC(A/G)AAAAT reference, missense
rs1005509 -- 111,250,521(-) ACATT(C/T)ACTAT intron-variant
rs10126427 -- 111,247,589(+) CAATT(C/T)TGGGA intron-variant
rs112040915 -- 111,251,224(+) CATCA(C/T)CAGAC reference, missense

Structural Variations from Database of Genomic Variants (DGV) for CAPN6 Gene

Variant ID Type Subtype PubMed ID
esv3361732 OTHER inversion 20981092

Variation tolerance for CAPN6 Gene

Residual Variation Intolerance Score: 10.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.40; 77.07% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CAPN6 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CAPN6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CAPN6 Gene

Disorders for CAPN6 Gene

MalaCards: The human disease database

(2) MalaCards diseases for CAPN6 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
leiomyosarcoma
  • leiomyosarcomas
corneal dystrophy, posterior polymorphous, 1
  • corneal endothelial dystrophy 1, autosomal dominant
- elite association - COSMIC cancer census association via MalaCards
Search CAPN6 in MalaCards View complete list of genes associated with diseases

Relevant External Links for CAPN6

Genetic Association Database (GAD)
CAPN6
Human Genome Epidemiology (HuGE) Navigator
CAPN6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CAPN6
genes like me logo Genes that share disorders with CAPN6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CAPN6 Gene

Publications for CAPN6 Gene

  1. A new subfamily of vertebrate calpains lacking a calmodulin-like domain: implications for calpain regulation and evolution. (PMID: 9339374) Dear T.N. … Boehm T. (Genomics 1997) 2 3 4 22 64
  2. Calpain 6 is involved in microtubule stabilization and cytoskeletal organization. (PMID: 17210638) Tonami K. … Kurihara H. (Mol. Cell. Biol. 2007) 3 4 22 64
  3. Genomic organization of mouse Capn5 and Capn6 genes confirms that they are a distinct calpain subfamily. (PMID: 9503024) Matena K. … Dear N. (Genomics 1998) 2 3 22 64
  4. Family-based association study for bipolar affective disorder. (PMID: 20414141) Secolin R. … Lopes-Cendes I. (Psychiatr. Genet. 2010) 3 46 64
  5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 46 64

Products for CAPN6 Gene

Sources for CAPN6 Gene

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