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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 activ... See more...
Aliases for CAPN6 Gene
Aliases for CAPN6 Gene
External Ids for CAPN6 Gene
- HGNC: 1483
- NCBI Entrez Gene: 827
- Ensembl: ENSG00000077274
- OMIM®: 300146
- UniProtKB/Swiss-Prot: Q9Y6Q1
Previous GeneCards Identifiers for CAPN6 Gene
- GC0XM105791
- GC0XM107635
- GC0XM108513
- GC0XM109252
- GC0XM110294
- GC0XM110374
- GC0XM110488
- GC0XM100116
Summaries 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 Leiomyoma. Among its related pathways are B Cell Receptor Signaling Pathway (sino) and Degradation of the extracellular matrix. Gene Ontology (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 Summary 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).
-
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.
Additional gene information for CAPN6 Gene
- HGNC (1483)
- NCBI Entrez Gene (827)
- Ensembl (ENSG00000077274)
- OMIM® (300146)
- UniProtKB/Swiss-Prot (Q9Y6Q1)
- Open Targets Platform(ENSG00000077274)
- Alliance of Genome Resources
- Search for CAPN6 at DataMed
- Search for CAPN6 at HumanCyc
No data available for CIViC Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CAPN6 Gene
Genomics for CAPN6 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for CAPN6 Gene
| GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
|---|---|---|---|---|---|---|---|---|---|---|
| GH0XJ111268 | Promoter/Enhancer | 1.3 | EPDnew Ensembl ENCODE CraniofacialAtlas | 255.3 | +1.5 | 1482 | 3.6 | PRDM10 TAF1 | CAPN6 5MWI_A-191 CHRDL1 lnc-PAK3-1 PAK3 | |
| GH0XJ112081 | Promoter | 0.7 | Ensembl | 3.6 | -812.8 | -812818 | 1.8 | YY1 RXRA HNF4A RAD21 SP1 CTCF EZH2 | RTL4 TRPC5 CAPN6 piR-39891-088 HSALNG0139559 LHFPL1 | |
| GH0XJ111282 | Enhancer | 0.2 | ENCODE | 4.1 | -12.6 | -12625 | 2.2 | CHRDL1 CAPN6 HSALNG0139540 DCX | ||
| GH0XJ111220 | Enhancer | 0.2 | Ensembl | 4 | +50.2 | 50182 | 0.2 | CAPN6 piR-44878-076 FCF1P4 PAK3 | ||
| GH0XJ111255 | Enhancer | 0.6 | Ensembl ENCODE | 0.4 | +15.0 | 14986 | 0.2 | MAFF ZNF316 MAFK MAFG FOS EMSY | lnc-PAK3-1 5MWI_A-191 CAPN6 PAK3 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around CAPN6 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CAPN6
- Top Transcription factor binding sites by QIAGEN in the CAPN6 gene promoter:
-
- AREB6
- Cart-1
- GCNF
- GCNF-1
- GCNF-2
- MyoD
- MZF-1
- Nkx2-5
- SEF-1 (1)
Genomic Locations for CAPN6 Gene
Latest Assembly
- chrX:111,245,099-111,270,483
- (GRCh38/hg38)
- Size:
- 25,385 bases
- Orientation:
- Minus strand
Previous Assembly
- chrX:110,488,327-110,513,711
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 25,385 bases
- Orientation:
- Minus strand
Genomic View for CAPN6 Gene
Genes around CAPN6 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- Xq23 by HGNC
- Xq23 by Entrez Gene
- Xq23 by Ensembl
CAPN6 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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).
Protein Expression for CAPN6 Gene
Selected DME Specific Peptides for CAPN6 Gene
- Q9Y6Q1:
-
- YAGIFHF
- LLEKAYAK
Post-translational modifications for CAPN6 Gene
Other Protein References for CAPN6 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- LifeSpan BioSciences CAPN6 / Calpain 6 Antibody
- G Biosciences Immunotag™ CAPN6 Antibody
-
Custom Antibody ServicesOriGene Antibodies for CAPN6
- Novus Biologicals Antibodies for CAPN6
-
Abcam antibodies for CAPN6
- Invitrogen Antibodies for CAPN6 (AFLGC-CAPN6)
-
Boster Bio Antibodies for CAPN6
-
Custom Antibody ServicesProSci Antibodies for CAPN6
-
Santa Cruz Biotechnology (SCBT) Antibodies for CAPN6
- Sino Biological Antibodies for CAPN6
Protein products for research
- Search Origene for MassSpec and Protein Over-expression Lysates for CAPN6
- Origene Custom Protein Services for CAPN6
- antibodies-online: Show 6 available Calpain 6 Proteins ranked by validation data
- Compare Top Calpain 6 Proteins
-
Quality Products:
Assay products for research
- G Biosciences Immunotag™ Human CAPN6 (Calpain-6) ELISA and Immunotag™ Calpain-6 ELISA Kit
- antibodies-online: Show 17 available Calpain 6 Elisa Kits ranked by validation data
- Compare Top Calpain 6 Elisa Kits
-
Quality Products:
Domains & Families for CAPN6 Gene
Gene Families for CAPN6 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Cancer-related genes
- Enzymes
- Predicted intracellular proteins
Protein Domains for CAPN6 Gene
- InterPro:
- Blocks:
-
- C2 domain
- Calpain cysteine protease (C2) family signature
Suggested Antigen Peptide Sequences for CAPN6 Gene
- GenScript: Design optimal peptide antigens:
-
- Calpamodulin (CAN6_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q9Y6Q1- Family:
-
- Belongs to the peptidase C2 family.
Function for CAPN6 Gene
Molecular function for CAPN6 Gene
- 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).
- 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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004198 | NOT calcium-dependent cysteine-type endopeptidase activity | TAS,IBA | 21873635 |
| GO:0005515 | protein binding | IPI | 32296183 |
| GO:0008017 | microtubule binding | IEA,ISS | -- |
Phenotypes for CAPN6 Gene
- MGI mutant phenotypes for CAPN6:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for CAPN6:
-
- Increased vaccinia virus (VACV) infection
- no effect
- Decreased vaccinia virus (VACV) infection
- Decreased p24 protein expression
- Decreased endosome-nucleus distance (endosomes clustered in the perinuclear region)
- Synthetic lethal with imatinib mesylate
- Decreased viability in non-small-cell lung cancer (NSCLC) lineage
- Downregulation of NF-kappaB pathway after LMP1 stimulation
- Downregulation of NF-kappaB pathway after IL-1beta stimulation
- Downregulation of NF-kappaB pathway after TNFalpha stimulation
Animal Models for CAPN6 Gene
- MGI Knock Outs for CAPN6:
-
- Capn6 Capn6<tm1Hiso>
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for CAPN6 - Starting at $85 >
- * CAPN6 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for CAPN6
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CAPN6
-
Santa Cruz Biotechnology (SCBT) CRISPR for CAPN6
miRNA for CAPN6 Gene
- miRTarBase miRNAs that target CAPN6
-
- mmu-miR-124-3p (MIRT015753)
- hsa-miR-6833-3p (MIRT659885)
- hsa-miR-4768-5p (MIRT659886)
- hsa-miR-4452 (MIRT659887)
- hsa-miR-6509-5p (MIRT659888)
- hsa-miR-6873-3p (MIRT659889)
- hsa-miR-6802-5p (MIRT659890)
- hsa-miR-6800-5p (MIRT659891)
- hsa-miR-1255b-5p (MIRT659892)
- hsa-miR-1255a (MIRT659893)
- hsa-miR-6744-5p (MIRT659894)
- hsa-miR-6870-3p (MIRT659895)
- hsa-miR-5571-5p (MIRT659896)
- hsa-miR-4290 (MIRT725599)
- hsa-miR-4772-5p (MIRT725600)
- hsa-miR-383-5p (MIRT725601)
- hsa-miR-3667-3p (MIRT725602)
- hsa-miR-6734-3p (MIRT725603)
- hsa-miR-660-3p (MIRT725604)
- hsa-miR-5193 (MIRT725605)
- hsa-miR-4667-3p (MIRT725606)
- hsa-miR-5685 (MIRT725607)
- hsa-miR-4690-3p (MIRT725608)
- hsa-miR-4687-5p (MIRT725609)
- hsa-miR-670-3p (MIRT725610)
- hsa-miR-449a (MIRT732558)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CAPN6
- Browse OriGene Inhibitory RNA Products For CAPN6
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CAPN6
Clone products for research
- Applied Biological Materials (abm): Clones for CAPN6 - Starting at $45 >
- * CAPN6 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for CAPN6
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CAPN6
Cell Lines for research
-
Horizon Cell Lines for CAPN6
No data available for Phenotypes From GWAS Catalog , 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.
| Compartment | Confidence |
|---|---|
| cytoskeleton | 5 |
| cytosol | 4 |
| nucleus | 2 |
| plasma membrane | 1 |
| extracellular | 1 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
| lysosome | 1 |
- Cytosol (3)
- Centriolar satellite (2)
- Nucleoplasm (1)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IBA | 21873635 |
| GO:0005819 | spindle | IEA | -- |
| GO:0005856 | cytoskeleton | IEA | -- |
| GO:0005874 | microtubule | IEA | -- |
| GO:0005876 | spindle microtubule | IDA | 17210638 |
Pathways & Interactions for CAPN6 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | DREAM Repression and Dynorphin Expression |
nNOS Signaling in Skeletal Muscle
.37
Caspase Cascade
.36
|
Calpain Protease Regulates Cellular Mechanics
.31
|
| 2 | Degradation of the extracellular matrix | ||
| 3 | Apoptosis Pathway | ||
| 4 | B Cell Receptor Signaling Pathway (sino) | ||
| 5 | ERK Signaling |
ERK Signaling
.61
|
|
Pathways by source for CAPN6 Gene
1 Sino Biological pathway for CAPN6 Gene
1 BioSystems pathway for CAPN6 Gene
2 Reactome pathways for CAPN6 Gene
1 Tocris pathway for CAPN6 Gene
5 Qiagen pathways for CAPN6 Gene
- Calpain Protease Regulates Cellular Mechanics
- Caspase Cascade
- ERK Signaling
- FAK1 Signaling
- nNOS Signaling in Skeletal Muscle
Interacting Proteins for CAPN6 Gene
Selected Interacting proteins:
Q9Y6Q1-CAN6_HUMAN
ENSP00000317214
for CAPN6 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for CAPN6
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001578 | microtubule bundle formation | IEA,ISS | -- |
| GO:0006508 | NOT proteolysis | IEA,IBA | 21873635 |
| GO:0051493 | regulation of cytoskeleton organization | IEA,ISS | -- |
No data available for SIGNOR curated interactions for CAPN6 Gene
Drugs & Compounds for CAPN6 Gene
(2) Tocris Compounds for CAPN6 Gene
Transcripts for CAPN6 Gene
mRNA/cDNA for CAPN6 Gene
- 1 REFSEQ mRNAs :
- 8 NCBI additional mRNA sequence :
- 1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000324068 3532 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for CAPN6 - Starting at $85 >
- * CAPN6 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for CAPN6
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CAPN6
-
Santa Cruz Biotechnology (SCBT) CRISPR for CAPN6
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CAPN6
- Browse OriGene Inhibitory RNA Products For CAPN6
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CAPN6
Clone products for research
- Applied Biological Materials (abm): Clones for CAPN6 - Starting at $45 >
- * CAPN6 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for CAPN6
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CAPN6
| 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
Expression for CAPN6 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Skeletal Muscle (Muscoskeletal System)
- Muscle Progenitor Cells Mandibular Arch Muscles
- Limb Muscle Progenitor Cells Forelimb Myotome
- Muscle Progenitor Cells Hyoid Arch Muscles
-
Heart (Cardiovascular System)
- Cardiac Fibroblasts Myocardium
- Heart Tube
-
Limb (Muscoskeletal System)
- Limb Muscle Progenitor Cells Forelimb Myotome
- Limb Bud
- Bone (Muscoskeletal System)
- Inner Cell Mass (Early Embryonic Tissues)
-
Testis (Reproductive System)
- Pre-Sertoli Cells Testis Cord
-
Peripheral Nervous System (Nervous System)
- Immature Schwann Cells Peripheral Nerve Domain
-
Fibroblasts
- Cardiac Fibroblasts Myocardium
- Gut Tube (Gastrointestinal Tract)
- Cartilage (Muscoskeletal System)
- Neural Tube (Nervous System)
- Brain (Nervous System)
mRNA differential expression in normal tissues according to GTEx for CAPN6 Gene
This gene is overexpressed in Uterus (x10.3).
This gene is overexpressed in Placenta (65.3).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CAPN6 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CAPN6
SOURCE GeneReport for Unigene cluster for CAPN6 Gene:
Hs.496593mRNA Expression by UniProt/SwissProt for CAPN6 Gene:
Q9Y6Q1-CAN6_HUMAN
Tissue specificity:
Expressed only in placenta.
Evidence on tissue expression from TISSUES for CAPN6 Gene
- Muscle(2.9)
- Intestine(2.4)
Primer products for research
-
OriGene qPCR primer pairs for CAPN6
-
OriGene qPCR primer pairs and template standards for CAPN6
Gene Expression Assays for research
No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for CAPN6 Gene
Orthologs for CAPN6 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | CAPN6 29 30 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | CAPN6 29 30 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | CAPN6 29 30 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Capn6 29 |
|
||
| Mouse (Mus musculus) |
Mammalia | Capn6 29 16 30 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | CAPN6 30 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | CAPN6 30 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | CAPN6 29 30 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | CAPN6 30 |
|
OneToOne | |
| Zebrafish (Danio rerio) |
Actinopterygii | CR847986.1 30 |
|
ManyToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | tra-3 30 31 |
|
OneToMany | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.3869 30 |
|
OneToMany |
- Species where no ortholog for CAPN6 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
- 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)
- Aminode:
- Evolutionary constrained regions (ECRs) for CAPN6: view image
- Alliance of Genome Resources:
- Additional Orthologs for CAPN6
Paralogs for CAPN6 Gene
Paralogs for CAPN6 Gene
(7) SIMAP similar genes for CAPN6 Gene using alignment to 2 proteins:
- CAN6_HUMAN
- F5GWQ6_HUMAN
Variants for CAPN6 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CAPN6 Gene
| SNP ID | Clinical significance and condition | Chr 0X pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs17879776 | Benign: not provided | 111,248,637(-) |
G/A NM_014289.4(CAPN6):c.1416C>T (p.Thr472=) |
SYNONYMOUS | |
| rs193921059 | Uncertain Significance: Malignant tumor of prostate | 111,246,746(-) |
C/T NM_014289.4(CAPN6):c.1757G>A (p.Arg586Gln) |
MISSENSE | |
| VAR_036048 | A colorectal cancer sample |
p.Gly358Arg |
|||
| rs12013711 | -- |
p.Val277Leu |
|||
| rs12851517 | -- |
p.Thr518Ile |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv3361732 | OTHER | inversion | 20981092 |
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)
Additional Variant Information for CAPN6 Gene
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CAPN6 Gene
Disorders for CAPN6 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| leiomyosarcoma |
|
|
| leiomyoma |
|
|
| corneal dystrophy, endothelial, x-linked |
|
|
| coffin-siris syndrome 1 |
|
|
| corneal dystrophy, posterior polymorphous, 1 |
|
|
Search CAPN6 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for CAPN6
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for CAPN6 Gene
Publications for CAPN6 Gene
- A new subfamily of vertebrate calpains lacking a calmodulin-like domain: implications for calpain regulation and evolution. (PMID: 9339374) Dear N … Boehm T (Genomics 1997) 2 3 4 22
- Calpain 6 is involved in microtubule stabilization and cytoskeletal organization. (PMID: 17210638) Tonami K … Kurihara H (Molecular and cellular biology 2007) 3 4 22
- 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
- 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 SD … DREAM investigators (Diabetes care 2010) 3 40
- Family-based association study for bipolar affective disorder. (PMID: 20414141) Secolin R … Lopes-Cendes I (Psychiatric genetics 2010) 3 40
ExternalLinks
Products for CAPN6 Gene
- Custom Antibody ServicesOriGene Antibodies for CAPN6
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- antibodies-online: Show 16 available Calpain 6 Antibodies ranked by validation data
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- Santa Cruz Biotechnology (SCBT) Antibodies for CAPN6
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Sources for CAPN6 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Apr-2021)
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
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- (64) neXtProt
- (65) Reactome
- (66) GeneGo (Thomson Reuters)
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- (71) miRTarBase
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- (81) Illumina
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- (84) PaxDb
- (85) ApexBio
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- (91) PathCards
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- (94) Taconic Biosciences
- (95) GTEx
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- (102) diseasecard
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