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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

CAPN6 Gene

protein-coding GIFtS: 61
GCID: GC0XM110488

calpain 6

Explore 12 diseases affiliated with
CAPN6 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Calpain 6¹ ²		Calpain-6¹
CANPX¹ ² ³		Calpamodulin³
CalpM¹ ² ³		CALPM³
CAPNX¹ ²		Calpamodulin³
Calpain-Like Protease X-Linked² ³		EC 3.4.22⁸
DJ914P14.1²

External Ids:	HGNC: 1483¹	Entrez Gene: 827²	Ensembl: ENSG00000077274⁷	OMIM: 300146⁵	UniProtKB: Q9Y6Q1³

Export aliases for CAPN6 gene to outside databases

Previous GC identifers: GC0XM105791 GC0XM107635 GC0XM108513 GC0XM109252 GC0XM110294 GC0XM110374 GC0XM100116

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CAPN6:

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)

UniProtKB/Swiss-Prot: CAN6_HUMAN, Q9Y6Q1

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)

summary for CAPN6:

Calpains are a group of calcium-sensitive cysteine proteases that are ubiquitously expressed in mammals.

This family contains 14 members with mu-calpain (calpain 1) and m-calpain (calpain 2) being the most

well-characterized. 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. Calpains are regulated

by Ca2+ concentration, phosphorylation, calpastatin and probably by altering their subcellular localization

(limiting access to substrate). These endopeptidases have numerous functions including, but not limited to,

remodeling of cytoskeletal attachments to the plasma membrane during cell fusion and cell motility,

proteolytic modification of molecules in signal transduction pathways, degradation of enzymes controlling

progression through the cell cycle, regulation of gene expression, substrate degradation in some apoptotic

pathways, and an involvement in long-term potentiation. Perturbations in calpain activity have been

associated in pathophysiological processes contributing to type II diabetes (calpain 10), Alzheimer's

disease (calpain 1), gastric cancer (calpain 9) and muscular dystrophy (calpain 3).

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000023.10 NC_018934.1 NT_011651.17

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the CAPN6 gene promoter:
GCNF MyoD Nkx2-5 AREB6 MZF-1 GCNF-1 Cart-1 SEF-1 (1) GCNF-2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: CAPN6 promoter sequence

Search SABiosciences Chromatin IP Primers for CAPN6

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CAPN6

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xq23 Ensembl cytogenetic band: Xq23 HGNC cytogenetic band: Xq23

CAPN6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CAPN6 gene location

GeneLoc information about chromosome X GeneLoc Exon Structure

GeneLoc location for GC0XM110488: view genomic region (about GC identifiers)

Start:	110,488,327 bp from pter	End:	110,513,774 bp from pter
Size:	25,448 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: CAN6_HUMAN, Q9Y6Q1 (See protein sequence)

Recommended Name: Calpain-6

Size: 641 amino acids; 74576 Da

Subunit: Interacts (via domain III) with microtubules (By similarity). Interacts (via domain II) with ARHGEF2 (via the

N-terminal zinc finger) (By similarity)

Subcellular location: Cytoplasm, perinuclear region. Cytoplasm, cytoskeleton, spindle. Note=During mitose associated

with the mitotic spindle. At telophase colocalized to the midbody spindle

Secondary accessions: D3DUY7 Q9UEQ1 Q9UJA8

Explore the universe of human proteins at neXtProt for CAPN6: NX_Q9Y6Q1

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9Y6Q1

2 DME Specific Peptides for CAPN6 (Q9Y6Q1)

YAGIFHF

LLEKAYAK

CAPN6 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_055104.2

ENSEMBL proteins:

ENSP00000317214 ENSP00000441736

Human Recombinant Protein Products:

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	Novus Biologicals CAPN6 Protein Novus Biologicals CAPN6 Lysate
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for CAPN6

Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005874	microtubule	--	--
GO:0005876	spindle microtubule	IDA	17210638
GO:0048471	perinuclear region of cytoplasm	IDA	17210638

CAPN6 for ontologies About GeneDecksing

CAPN6 Antibody Products:

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	Novus Biologicals CAPN6 Antibodies
	Search for Antibodies for CAPN6 at Abcam
	Uscn Antibodies for CAPN6
	ThermoFisher Antibodies for CAPN6

Assay Products for CAPN6:

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	GenScript Custom Assay Services for CAPN6
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for CAPN6

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

CAPN6 for domains About GeneDecksing

5/6 InterPro domains/families (see all 6):

IPR001300 Peptidase_C2_calpain_cat

IPR008973 C2_Ca/lipid-bd_dom_CaLB

IPR022684 Calpain_cysteine_protease

IPR022683 Calpain_III

IPR022682 Calpain_domain_III

Graphical View of Domain Structure for InterPro Entry Q9Y6Q1

ProtoNet protein and cluster: Q9Y6Q1

2 Blocks protein families:

IPB000008 C2 domain

IPB001300 Calpain cysteine protease (C2) family signature

UniProtKB/Swiss-Prot: CAN6_HUMAN, Q9Y6Q1

Similarity: Belongs to the peptidase C2 family

Similarity: Contains 1 C2 domain

Similarity: Contains 1 calpain catalytic domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: CAN6_HUMAN, Q9Y6Q1

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 entry for CAPN6:

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

Enzyme Number (IUBMB): EC 3.4.22²

miRNA Products:		OriGene 3'-UTR Clone: CAPN6 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CAPN6
		8/82 QIAGEN miScript miRNA Assays for microRNAs that regulate CAPN6 (see all 82):
		hsa-miR-124* hsa-miR-361-5p hsa-miR-15a hsa-miR-4267 hsa-miR-890 hsa-miR-298 hsa-miR-3612 hsa-miR-509-3-5p

		SwitchGear 3'UTR luciferase reporter plasmid: CAPN6 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CAPN6 (see all 7) OriGene shRNA RFP: CAPN6 OriGene siRNA: CAPN6
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CAPN6

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for CAPN6

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CAPN6 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CAPN6 (see all 2) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: CAPN6 (NM_014289)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for CAPN6
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CAPN6

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for CAPN6
		Search LifeMap BioReagents cell lines for CAPN6

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CAPN6

Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004198	calcium-dependent cysteine-type endopeptidase activity	IEA	--
GO:0005515	protein binding	--	--
GO:0008017	microtubule binding	ISS	--

CAPN6 for ontologies About GeneDecksing

4 GenomeRNAi human phenotypes for CAPN6:

Decreased p24 protein expressi

Downregulation of NF-kappaB pa

Synthetic lethal with imatinib

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

DREAM Repression and Dynorphin Expression

	nNOS Signaling in Skeletal Muscle	0.37			Calpain Protease Regulates Cellular Mechanics	0.22
	Caspase Cascade	0.24

Apoptosis Pathway

Apoptosis Pathway

1.00

Integrin Pathway

FAK1 Signaling

0.67

Rho Family GTPases

ERK Signaling

0.61

Focal Adhesion

Integrin-mediated cell adhesion

0.38

Pathway sources
See GeneCards unified pathways
Show all pathways

5 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for CAPN6

	Caspase Cascade
	ERK Signaling
	Calpain Protease Regulates Cellular Mechanics
	FAK1 Signaling
	nNOS Signaling in Skeletal Muscle

1 Tocris Bioscience Pathway for CAPN6

Apoptosis Pathway

1 BioSystems Pathway for CAPN6

Integrin-mediated cell adhesion

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for CAPN6

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/74 Interacting proteins for CAPN6 (Q9Y6Q1^{2, 3} ENSP00000317214⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 74)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
EZR	P15311²^,³, ENSP00000338934⁴	MINT-73253 I2D: score=1 STRING: ENSP00000338934
SLC9A3R1	O14745²^,³, ENSP00000262613⁴	MINT-73252 I2D: score=1 STRING: ENSP00000262613
ATP6V1B2	P21281², ENSP00000276390⁴	MINT-4054731 STRING: ENSP00000276390
A2M	P01023²	MINT-4054731
ACTB	P60709²	MINT-4054731

About this table

Gene Ontology (GO): 3 biological process terms (GO ID links to tree view): About this table

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	--

CAPN6 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

EMD Millipore small molecules for CAPN6:
Small Molecule - inhibitor

Browse drugs & compounds from Enzo Life Sciences

Compounds for CAPN6 available from Tocris Bioscience About this table

Compound	Action	CAS #
Calpeptin	Calpain and cathepsin L inhibitor	[117591-20-5]
Acetyl-Calpastatin (184-210) (human)	Selective calpain inhibitor	[123714-50-1]
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]
MG 101	Calpain inhibitor; activates p53-dependent apoptosis	[110044-82-1]

Search CenterWatch for drugs/clinical trials and news about CAPN6 / CAN6

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for CAPN6 gene:

NM_014289.3

Unigene Cluster for CAPN6:

Calpain 6

Hs.496593 [show with all ESTs]

Unigene Representative Sequence: AJ000388

2 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000324068(uc011msu.2 uc004epc.2) ENST00000541758

miRNA Products:		OriGene 3'-UTR Clone: CAPN6 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CAPN6
		8/82 QIAGEN miScript miRNA Assays for microRNAs that regulate CAPN6 (see all 82):
		hsa-miR-124* hsa-miR-361-5p hsa-miR-15a hsa-miR-4267 hsa-miR-890 hsa-miR-298 hsa-miR-3612 hsa-miR-509-3-5p

		SwitchGear 3'UTR luciferase reporter plasmid: CAPN6 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CAPN6 (see all 7) OriGene shRNA RFP: CAPN6 OriGene siRNA: CAPN6
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CAPN6

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CAPN6 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CAPN6 (see all 2) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: CAPN6 (NM_014289)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for CAPN6
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CAPN6

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CAPN6 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat CAPN6
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CAPN6
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CAPN6

Additional cDNA sequence:

AF029232.1 AJ000388.1 AK300340.1 AK312701.1 BC000730.2 L32067.1

7 DOTS entries:

DT.217595 DT.100735277 DT.100735281 DT.100822403 DT.121276879 DT.92435491 DT.91971712

24/162 AceView cDNA sequences (see all 162):

AW604228 AI672238 AU140650 CA448545 CA412062 CR603979 AU118652 AA242946

AA457238 AW604235 AA424869 AI858274 AL540944 AI811462 BQ002142 AI675891

CR607180 H94028 AA610107 AU135982 BM722094 NM_014289 BX381211 T39424

GeneLoc Exon Structure

5 Alternative Splicing Database (ASD) splice patterns (SP) for CAPN6 About this scheme

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:

ECgene alternative splicing isoforms for CAPN6

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

CAPN6 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TTTTCCAGTC

About this image

CAPN6 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

4 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Epicardium

Limb Muscle Progenitor Cells

Skeletal Muscle

Hyoid Arch Muscles

Muscle Progenitor Cells

Skeletal Muscle

Mandibular Arch Muscles

Muscle Progenitor Cells

Skeletal Muscle

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 3 LifeMap Cells

Name

Category

N2/LSB/S/F8/CHIR-induced cells (Generation of midbra...)

Posterior foregut-like cells (A scalable, suspensi...)

Extraembryonic endoderm-like cells (Generation of extrae...)

See CAPN6 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CAPN6

SOURCE GeneReport for Unigene cluster: Hs.496593

UniProtKB/Swiss-Prot: CAN6_HUMAN, Q9Y6Q1

Tissue specificity: Expressed only in placenta

SABiosciences Expression via Pathway-Focused PCR Array including CAPN6:

Necrosis in human mouse rat

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CAPN6 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat CAPN6
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CAPN6

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CAPN6

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for CAPN6 gene from 5/18 species (see all 18) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	CAPN6¹	calpain 6	62.25(n) 54.6(a)		422341 XM_420313.3 XP_420313.2
lizard (Anolis carolinensis)	Reptilia	CAPN6⁶	--	50(a)	1 ↔ 1	GL343376.1(266290-289582)
worm (Caenorhabditis elegans)	Secernentea	tra-3³	calpain (TRA-3)	36(a)		IV(14436846-14444316) --
thale cress (Arabidopsis thaliana)	eudicotyledons	ATDEK1⁶	calpain-type cysteine protease	5(a)	1 → many	1(20653820-20665095)
rice (Oryza sativa)	Liliopsida	--	calpain, putative, expressed	5(a)	1 → many	2(29335385-29352022)

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

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for CAPN6 gene

CAPN8² CAPN14² CAPN13² CAPN5² CAPN9² CAPN1² CAPN3² CAPN2²

CAPN7² CAPN12² SOLH² CAPN11² CAPN10²

7 SIMAP similar genes for CAPN6 using alignment to 2 protein entries: CAN6_HUMAN (see all proteins):

CAPN5 CAPN8 CAPN2 CAPN9 CAPN1 CAPN11

CAPN3

CAPN6 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr X pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs188496788^1,2		--	110487846(+)	`AGGCAC/TTTTTT`	1	--	ds500¹		0	--	--	--	--
rs148935286^1,2		--	110488005(+)	`GAGAGA/CTCTTC`	1	--	ds500¹		0	--	--	--	--
rs181308957^1,2		--	110488065(+)	`TAGGAG/TTTTCA`	1	--	ds500¹		0	--	--	--	--
rs17880373^1,2	C,	--	110488220(-)	`GAAATC/TTGAGC`	1	--	ds500¹		1		NS	170
rs17879023^1,2	C,F	--	110488539(-)	`TTCCAC/ACCCAA`	1	--	ut3¹ ese³		2		NS NA	176
rs138331193^1,2		--	110488595(+)	`AAGGAA/GGGGCA`	1	--	ut3¹		0	--	--	--	--
rs17882941^1,2	C,	--	110488681(-)	`TCTCAT/CTTTTC`	1	--	ut3¹		1		NS	174
rs185948400^1,2		--	110488781(+)	`GATGGG/TGTCTT`	1	--	ut3¹		0	--	--	--	--
rs41307389^1,2	C,	--	110488839(+)	`ACCTAA/GCAGCA`	1	--	ut3¹		1		NA	1
rs182305354^1,2		--	110489071(+)	`TTTTCC/TGTCTT`	1	--	ut3¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for CAPN6 (110488327 - 110513774 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for CAPN6: --
Locus Specific Mutation Databases (LSDB): CAPN6

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

CAPN6 for disorders           About GeneDecksing

OMIM gene information: 300146    OMIM disorders: --

12 diseases for CAPN6:    About MalaCards

muscular dystrophy gastric cancer alzheimer's disease bipolar affective disorder

uterine sarcoma leiomyosarcoma leiomyoma nephropathy

hermaphroditism sarcoma neurodegeneration cervicitis

3 Novoseek disease relationships for CAPN6 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
leiomyosarcoma	53.2	1	17291261 (1)
leiomyoma	52.8	1	12761473 (1)
tumors	0	3	18357368 (2), 17291261 (1)

Human Genome Epidemiology (HuGE) Navigator: CAPN6 (5 documents)

Export disorders for CAPN6 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for CAPN6 gene, integrated from 9 sources (see all 22):
(articles sorted by number of sources associating them with CAPN6)

Utopia: connect your pdf to the dynamic
world of online information

A new subfamily of vertebrate calpains lacking a calmodulin-like domain: implications for calpain regulation and evolution. (PubMed id 9339374)^{1, 2, 3, 9} Dear N....Boehm T. (1997)
Genomic organization of mouse Capn5 and Capn6 genes confirms that they are a distinct calpain subfamily. (PubMed id 9503024)^{1, 3, 9} Matena K....Dear N. (1998)
Calpain 6 is involved in microtubule stabilization and cytoskeletal organization. (PubMed id 17210638)^{1, 2, 9} Tonami K....Kurihara H. (2007)
The DNA sequence of the human X chromosome. (PubMed id 15772651)^{1, 2} Ross M.T.... Bentley D.R. (2005)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Calpain 6 supports tumorigenesis by inhibiting apoptosis and facilitating angiogenesis. (PubMed id 18657900)^{1, 9} Rho S.B....Chun T. (2008)
Calpain-6 is an endothelin-1 signaling dependent prote ctive factor in chemoresistant osteosarcoma. (PubMed id 21681744)¹ Marion A....Modrowski D. (2012)
Family-based association study for bipolar affective disorder. (PubMed id 20414141)¹ Secolin R....Lopes-Cendes I. (2010)
Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)¹ Bailey S.D....Anand S. (2010)
Gene-centric association signals for lipids and apoli poproteins identified via the HumanCVD BeadChip. (PubMed id 19913121)¹ Talmud P.J.... . (2009)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 827	HGNC: 1483	AceView: CAPN6	Ensembl:ENSG00000077274	euGenes: HUgn827
ECgene: CAPN6	H-InvDB: CAPN6

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for CAPN6	Pharmacogenomics, SNPs, Pathways
NIEHS-SNPs	http://egp.gs.washington.edu/data/capn6/

Intellectual Property for CAPN6 gene
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About This Section

Patent Information for CAPN6 gene:
Search GeneIP for patents involving CAPN6

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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calpain 6

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calpain 6

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