Free for academic non-profit institutions. Other users need a Commercial license

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
  • EC 3.4.22 63
  • 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 DREAM Repression and Dynorphin Expression and Focal Adhesion. GO annotations related to this gene include microtubule binding and calcium-dependent cysteine-type endopeptidase activity. An important paralog of this gene is CAPN9.

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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around CAPN6 on UCSC Golden Path with GeneCards custom track

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

Proteomics data for CAPN6 Gene at MOPED

Selected DME Specific Peptides for CAPN6 Gene

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

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 --
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

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

No data available for Gene Ontology (GO) - Cellular Components for CAPN6 Gene

Pathways & Interactions for CAPN6 Gene

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

Pathways by source for CAPN6 Gene

Gene Ontology (GO) - Biological Process for CAPN6 Gene

None

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
MDL 28170 Pharma Calpain and cathepsin B inhibitor, selective, Potent, selective calpain and cathepsin B inhibitor 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Acetyl-Calpastatin (184-210) (human)
123714-50-1
Calpeptin
117591-20-5
MG 132
133407-82-6
PD 150606
179528-45-1

(5) Tocris Compounds for CAPN6 Gene

Compound Action Cas Number
Acetyl-Calpastatin (184-210) (human) Selective calpain inhibitor 123714-50-1
Calpeptin Calpain and cathepsin L inhibitor 117591-20-5
MDL 28170 Potent, selective calpain and cathepsin B inhibitor 88191-84-8
MG 132 Proteasome and calpain inhibitor. Inhibits NF-kappaB activation 133407-82-6
PD 150606 Cell permeable calpain inhibitor 179528-45-1
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:

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 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



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
cow
(Bos Taurus)
Mammalia CAPN6 35
  • 91.63 (n)
  • 94.23 (a)
CAPN6 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CAPN6 35
  • 92.98 (n)
  • 97.19 (a)
CAPN6 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Capn6 35
  • 90.12 (n)
  • 95.16 (a)
Capn6 16
Capn6 36
  • 95 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CAPN6 35
  • 99.32 (n)
  • 99.06 (a)
CAPN6 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Capn6 35
  • 90.28 (n)
  • 95.01 (a)
oppossum
(Monodelphis domestica)
Mammalia CAPN6 36
  • 52 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CAPN6 36
  • 54 (a)
OneToOne
chicken
(Gallus gallus)
Aves CAPN6 35
  • 62.25 (n)
  • 54.6 (a)
CAPN6 36
  • 55 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CAPN6 36
  • 51 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii CR847986.1 36
  • 40 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea tra-3 37
  • 36 (a)
tra-3 36
  • 35 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3869 36
  • 26 (a)
OneToMany
Species with no ortholog for CAPN6:
  • 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
rs12013711 - 111,251,613(+) ATACA(C/G)CTTCT reference, missense
VAR_036048 A colorectal cancer sample
rs12851517 - 111,247,924(+) TCTGA(A/G)TAACT reference, missense
rs747678060 -- 111,251,425(+) AGACC(C/G)CGTGC intron-variant
rs747678122 -- 111,260,327(+) TTTGT(C/T)AAACT intron-variant

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)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Structural Variations from Database of Genomic Variants (DGV) and Relevant External Links 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
  • posterior polymorphous corneal dystrophy
- 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 23 67
  2. 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 23
  3. Calpain 6 supports tumorigenesis by inhibiting apoptosis and facilitating angiogenesis. (PMID: 18657900) Rho S.B. … Chun T. (Cancer Lett. 2008) 3 23
  4. Calpain 6 is involved in microtubule stabilization and cytoskeletal organization. (PMID: 17210638) Tonami K. … Kurihara H. (Mol. Cell. Biol. 2007) 3 23
  5. Calpain-6 is an endothelin-1 signaling dependent protective factor in chemoresistant osteosarcoma. (PMID: 21681744) Marion A. … Modrowski D. (Int. J. Cancer 2012) 3

Products for CAPN6 Gene

Sources for CAPN6 Gene

Content