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Set Analyses:

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CKM Gene

protein-coding GIFtS: 68
GCID: GC19M045809

Creatine Kinase, Muscle

(Previous symbol: CKMM)

See related diseases
at

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(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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Aliases
Creatine Kinase, Muscle¹ ²		EC 2.7.3.2³ ⁸
CKMM¹ ² ³ ⁵		Creatine Kinase M-Type²
Creatine Kinase M Chain² ³		EC 2.7.3⁸
M-CK² ³

External Ids:	HGNC: 1994¹	Entrez Gene: 1158²	Ensembl: ENSG00000104879⁷	OMIM: 123310⁵	UniProtKB: P06732³

Export aliases for CKM gene to outside databases

Previous GC identifers: GC19M046454 GC19M046200 GC19M050485 GC19M050501 GC19M042241

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for CKM Gene:

The protein encoded by this gene is a cytoplasmic enzyme involved in energy homeostasis and is an important serum

marker for myocardial infarction. The encoded protein reversibly catalyzes the transfer of phosphate between ATP

and various phosphogens such as creatine phosphate. It acts as a homodimer in striated muscle as well as in other

tissues, and as a heterodimer with a similar brain isozyme in heart. The encoded protein is a member of the

ATP:guanido phosphotransferase protein family. (provided by RefSeq, Jul 2008)

GeneCards Summary for CKM Gene:

CKM (creatine kinase, muscle) is a protein-coding gene. Diseases associated with CKM include subvalvular aortic stenosis, and mcleod syndrome. GO annotations related to this gene include creatine kinase activity. An important paralog of this gene is CKB.

UniProtKB/Swiss-Prot: KCRM_HUMAN, P06732

Function: Reversibly catalyzes the transfer of phosphate between ATP and various phosphogens (e.g. creatine

phosphate). Creatine kinase isoenzymes play a central role in energy transduction in tissues with large,

fluctuating energy demands, such as skeletal muscle, heart, brain and spermatozoa

Gene Wiki entry for CKM Gene

(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:

NC_000019.10 NT_011109.17 NC_018930.2

Regulatory elements:

Regulatory transcription factor binding sites in the CKM gene promoter:
USF1 USF-1 MyoD Pax-4a Arnt Roaz
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: CKM promoter sequence

Search Chromatin IP Primers for CKM

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CKM

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

Entrez Gene cytogenetic band: 19q13.32 Ensembl cytogenetic band: 19q13.32 HGNC cytogenetic band: 19q13.32

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

GeneLoc information about chromosome 19 GeneLoc Exon Structure

GeneLoc location for GC19M045809: view genomic region (about GC identifiers)

Start:	45,809,671 bp from pter	End:	45,826,235 bp from pter
Size:	16,565 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: KCRM_HUMAN, P06732 (See protein sequence)

Recommended Name: Creatine kinase M-type

Size: 381 amino acids; 43101 Da

Subunit: Dimer of identical or non-identical chains. With MM being the major form in skeletal muscle and

myocardium, MB existing in myocardium, and BB existing in many tissues, especially brain

1 PDB 3D structure from and Proteopedia for CKM:

1I0E (3D)

Secondary accessions: Q96QL9

Explore the universe of human proteins at neXtProt for CKM: NX_P06732

Explore proteomics data for CKM at MOPED

Post-translational modifications:

Modification sites at neXtProt

Modification sites at PhosphoSitePlus

Selected DME Specific Peptides for CKM (P06732) (see all 26)

CPSNLGT

NEEDHLR

GGDDLDP

AGDEESY

See CKM Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_001815.2

ENSEMBL proteins:

ENSP00000221476

Reactome Protein details: P06732

CKM Human Recombinant Protein Products:

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	Novus Biologicals CKM Proteins Novus Biologicals CKM Lysates
	Sino Biological Recombinant Protein for CKM Browse Sino Biological Cell Lysates
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	Cloud-Clone Corp. Proteins for CKM

CKM Antibody Products:

	Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	R&D Systems Antibodies for CKM (Creatine Kinase, Muscle/CKMM)
	OriGene Antibodies for CKM OriGene Custom Antibody Services for CKM
	Novus Biologicals CKM Antibodies
	Abcam antibodies for CKM (P06732, P12277)
	Cloud-Clone Corp. Antibodies for CKM
	ThermoFisher Antibodies for CKM
	LSBio Antibodies in human, mouse, rat for CKM

CKM Assay Products:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Assay Services for CKM
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for CKM
	Browse Enzo Life Sciences for kits & assays
	Cloud-Clone Corp. ELISAs for CKM Cloud-Clone Corp. CLIAs for CKM

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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4 InterPro protein domains:

IPR014746 Gln_synth/guanido_kin_cat_dom

IPR022413 ATP-guanido_PTrfase_N

IPR022415 ATP-guanido_PTrfase_AS

IPR022414 ATP-guanido_PTrfase_cat

Graphical View of Domain Structure for InterPro Entry P06732

ProtoNet protein and cluster: P06732

1 Blocks protein domain: IPB000749 ATP:guanido phosphotransferase

UniProtKB/Swiss-Prot: KCRM_HUMAN, P06732

Similarity: Belongs to the ATP:guanido phosphotransferase family

Similarity: Contains 1 phosphagen kinase C-terminal domain

Similarity: Contains 1 phosphagen kinase N-terminal domain

CKM for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

UniProtKB/Swiss-Prot Summary: KCRM_HUMAN, P06732

Function: Reversibly catalyzes the transfer of phosphate between ATP and various phosphogens (e.g. creatine

phosphate). Creatine kinase isoenzymes play a central role in energy transduction in tissues with large,

fluctuating energy demands, such as skeletal muscle, heart, brain and spermatozoa

Catalytic activity: ATP + creatine = ADP + phosphocreatine

Genatlas biochemistry entry for CKM:

creatine kinase,muscle

Enzyme Numbers (IUBMB): EC 2.7.3.2¹ ² EC 2.7.3²

Gene Ontology (GO): 4 molecular function terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004111	creatine kinase activity	IEA	--
GO:0005524	ATP binding	IEA	--
GO:0016301	kinase activity	--	--
GO:0016772	transferase activity, transferring phosphorus-containing groups	--	--

CKM for ontologies About GeneDecksing

Phenotypes:
1 GenomeRNAi human phenotype for CKM:

Increased viability after born

5 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Ckm):

cardiovascular system

cellular

growth/size/body

homeostasis/metabolism

muscle

CKM for phenotypes About GeneDecksing

Animal Models:
MGI mouse knock-outs for CKM: Ckm^tm1Bew Ckm^tm2Bew

inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CKM

inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CKM

genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CKM

genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CKM

miRNA Products:		Block miRNA regulation of human, mouse, rat CKM using miScript Target Protectors
		3 qRT-PCR Assays for microRNAs that regulate CKM:
		hsa-miR-3140-3p hsa-miR-663 hsa-miR-1908
		SwitchGear 3'UTR luciferase reporter plasmid: CKM 3' UTR sequence

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for CKM
		Predesigned siRNA for gene silencing in human, mouse, rat CKM

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for CKM

Clone Products:		OriGene clones in human, mouse for CKM (see all 7) OriGene ORF clones in mouse, rat for CKM OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: CKM (NM_001824)
		Sino Biological Human cDNA Clone for CKM
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for CKM
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CKM

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for CKM
		Browse ESI BIO Cell Lines and PureStem Progenitors for CKM

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CKM

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot

KCRM_HUMAN, P06732: Cytoplasm

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
cytosol	4
cytoskeleton	2
mitochondrion	2
nucleus	2
plasma membrane	2
extracellular	1
peroxisome	1

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Gene Ontology (GO): 2 cellular component terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	--	--
GO:0005829	cytosol	TAS	--

CKM for ontologies About GeneDecksing

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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SuperPaths for CKM About (see all 6)

See pathways by source

SuperPath

Contained pathways About

Metabolism of amino acids and derivatives

	Metabolism of amino acids and derivatives			Creatine metabolism	0.00
	creatine-phosphate biosynthesis	0.00

Metabolism

Metabolism

0.38

Metabolic pathways

0.38

Arginine and proline metabolism

Arginine and proline metabolism

Urea cycle and metabolism of amino groups

0.00

Regulation of retinoblastoma protein

Regulation of retinoblastoma protein

AMPK Enzyme Complex Pathway

AMPK Enzyme Complex Pathway

Pathways by source See SuperPaths
Show some pathways

1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for CKM

AMPK Enzyme Complex Pathway

3 BioSystems Pathways for CKM

	creatine-phosphate biosynthesis
	Regulation of retinoblastoma protein
	Urea cycle and metabolism of amino groups

1 Reactome Pathway for CKM

Creatine metabolism

1 PharmGKB Pathway for CKM

Abacavir Pathway, Pharmacokinetics/Pharmacodynamics

2 Kegg Pathways (Kegg details for CKM):

	Arginine and proline metabolism
	Metabolic pathways

CKM for pathways About GeneDecksing

Pathway & Disease-focused RT² Profiler PCR Array including CKM:

Cardiotoxicity in human mouse rat

Interactions:

GeneGlobe Interaction Network for CKM

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

Selected Interacting proteins for CKM (P06732³ ENSP00000221476⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 70)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
TRIM63	Q969Q1³, ENSP00000363390⁴	I2D: score=2 STRING: ENSP00000363390
CKB	P12277³, ENSP00000299198⁴	I2D: score=1 STRING: ENSP00000299198
TRIM54	Q9BYV2³, ENSP00000296098⁴	I2D: score=1 STRING: ENSP00000296098
UBC	P0CG48³, ENSP00000344818⁴	I2D: score=1 STRING: ENSP00000344818
MYOM2	P54296³, ENSP00000262113⁴	I2D: score=1 STRING: ENSP00000262113

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Gene Ontology (GO): 4 biological process terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006600	creatine metabolic process	TAS	--
GO:0034641	cellular nitrogen compound metabolic process	TAS	--
GO:0044281	small molecule metabolic process	TAS	--
GO:0046314	phosphocreatine biosynthetic process	IEA	--

CKM for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

Browse Tocris compounds for CKM (KCRM)

4 HMDB Compounds for CKM About this table

Compound	Synonyms	CAS #	PubMed Ids
ADP	adenosindiphosphorsaeure (see all 8)	58-64-0	--
Adenosine triphosphate	5'-(tetrahydrogen triphosphate) Adenosine (see all 24)	56-65-5	--
Creatine	((amino(imino)methyl)(methyl)amino)acetate (see all 17)	57-00-1	--
Phosphocreatine	Creatine phosphate (see all 15)	67-07-2	--

4 DrugBank Compounds for CKM About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
(Diaminomethyl-Methyl-Amino)-Acetic Acid	--	--	target	--	17139284 17016423 10592235
Adenosine-5'-Diphosphate	--	20398-34-9	target	--	17139284 17016423 10592235
Creatine	(alpha-Methylguanido)acetic acid (see all 6)	57-00-1	target	ligand	17000714 1731757 17389266
D-Arginine	--	157-06-2	target	--	17139284 17016423 10592235

Selected Novoseek inferred chemical compound relationships for CKM gene (see all 23) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
creatinine	84.5	273	19327508 (5), 9808283 (5), 1690725 (3), 9756613 (3) (see all 99)
phosphocreatine	39.7	2	18979206 (1)
glycogen	18.9	5	18560415 (2), 15922959 (1)
percoll	14.9	1	8833742 (1)
atp	12	4	9516180 (1), 1950416 (1), 18979206 (1)
pyruvate	9.82	1	9740064 (1)
chloramphenicol	5.5	1	1690725 (1)
calcium	3.94	1	15389566 (1)
oxygen	0	1	11708401 (1)
nitric oxide	0	1	8617220 (1)

CKM for compounds About GeneDecksing

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for CKM gene:

NM_001824.4

Unigene Cluster for CKM:

Creatine kinase, muscle

Hs.334347 [show with all ESTs]

Unigene Representative Sequence: NM_001824

1 Ensembl transcript including schematic representation, and UCSC links where relevant:

ENST00000221476(uc002pbd.3)

miRNA Products:		Block miRNA regulation of human, mouse, rat CKM using miScript Target Protectors
		3 qRT-PCR Assays for microRNAs that regulate CKM:
		hsa-miR-3140-3p hsa-miR-663 hsa-miR-1908
		SwitchGear 3'UTR luciferase reporter plasmid: CKM 3' UTR sequence

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for CKM
		Predesigned siRNA for gene silencing in human, mouse, rat CKM

Clone Products:		OriGene clones in human, mouse for CKM (see all 7) OriGene ORF clones in mouse, rat for CKM OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: CKM (NM_001824)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for CKM
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CKM

Primer Products:		OriGene qPCR primer pairs and template standards for CKM OriGene qSTAR qPCR primer pairs in human, mouse for CKM
		Pre-validated RT² qPCR Primer Assay in human, mouse, rat CKM
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		QuantiFast Probe-based Assays in human, mouse, rat CKM

Additional mRNA sequence:

AK129878.1 AK300730.1 AK313281.1 BC007462.1 BT006793.1 M14780.1 M16440.1

16 DOTS entries:

DT.86999432 DT.91755914 DT.100820874 DT.121502341 DT.102828559 DT.100820873 DT.121502345 DT.100820875

DT.121502338 DT.91755923 DT.100820876 DT.100820872 DT.100820877 DT.87000155 DT.95369564 DT.100031850

Selected AceView cDNA sequences (see all 987):

BQ941643 AJ573003 F21295 F24524 F15639 F29199 F33674 F25434

AL599011 F26757 F28905 F30035 F29802 F30037 F30227 F26050

AJ573041 F15513 F27276 F27175 CF552199 F34400 F18094 F22753

GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for CKM About this scheme

ExUns:	1	^	2a	·	2b	^	3a	·	3b	·	3c	^	4a	·	4b	^	5a	·	5b	^	6a	·	6b	^	7	^	8a	·	8b
SP1:
SP2:									-		-		-		-		-		-		-
SP3:											-		-
SP4:					-

ECgene alternative splicing isoforms for CKM

(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™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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CKM expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: ATCCCCGCCC

About this image

CKM expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database
selected tissues (see all 8) fully expand


Brain (Nervous System) fully expand to see all 6 entries
Cerebral Cortex

Neural Tube (Nervous System) fully expand to see all 3 entries
Metencephalon

Adipose (Muscoskeletal System)
Interscapular Brown Adipose Depot

Thyroid (Endocrine System)

Testis (Reproductive System)

CKM Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

CKM Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.334347

Pathway & Disease-focused RT² Profiler PCR Array including CKM:

Cardiotoxicity in human mouse rat

Primer Products:		OriGene qPCR primer pairs and template standards for CKM OriGene qSTAR qPCR primer pairs in human, mouse for CKM
		Pre-validated RT² qPCR Primer Assay in human, mouse, rat CKM
		QuantiTect SYBR Green Assays in human, mouse, rat CKM
		QuantiFast Probe-based Assays in human, mouse, rat CKM

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CKM

(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)
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This gene was present in the common ancestor of animals.

Orthologs for CKM gene from Selected species (see all 15) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Ckm^{1 , 5}	creatine kinase, muscle^{1, 5}	90.29(n)¹ 96.59(a)¹		7 (9.67 cM)⁵ 12715¹ NM_007710.2¹ NP_031736.1¹ 19411094⁵
chicken (Gallus gallus)	Aves	CKM¹	creatine kinase, muscle	81.45(n) 90.29(a)		396507 NM_205507.1 NP_990838.1
lizard (Anolis carolinensis)	Reptilia	CKM⁶	creatine kinase, muscle	93(a)	1 ↔ 1	GL344965.1(1198-12130)
African clawed frog (Xenopus laevis)	Amphibia	ckm-prov²	creatine kinase, muscle	80.36(n)		BC042249.1
zebrafish (Danio rerio)	Actinopterygii	ckm²	creatine kinase, muscle	82.81(n)		30095 BC056706.1
fruit fly (Drosophila melanogaster)	Insecta	Argk³	phosphorylation arginine kinase	39(a) (best of 3)		--
worm (Caenorhabditis elegans)	Secernentea	ZC434.8³	arginine kinase	39(a) (best of 4)		I(10356154-10357374) --

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

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for CKM gene

CKB² CKMT1B² CKMT2² CKMT1A²

4 SIMAP similar genes for CKM using alignment to 1 protein entry: KCRM_HUMAN:

CKB CKMT2 CKMT1B CKMT1A

CKM for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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SNP ID	Valid	Clinical significance	Chr 19 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs8111989^1,2	C,F,A,H	--	45809208(+)	`AGCCAT/CGGCAG`	1	--	int¹		29		NS EA NA WA CSA	3084
rs17875631^1,2	C,F	--	45809265(-)	`GTCCCG/ATCTGA`	1	--	int¹		2		NS	80
rs189610964^1,2		--	45809333(+)	`CTCAAA/CACTGG`	1	--	int¹		0	--	--	--	--
rs17875630^1,2	C,F	--	45809344(-)	`CCCAAC/TGGTCT`	1	--	int¹		4		NS WA	200
rs181668808^1,2		--	45809554(+)	`AACTTA/TGCCTC`	1	--	int¹		0	--	--	--	--
rs111843749^1,2	C	--	45809672(+)	`AAGCTT/AAGGCC`	1	--	ut3¹		1		CSA	1
rs75379365^1,2	F	--	45809685(+)	`CAATGC/TTTTTA`	1	--	ut3¹		1		NA	120
rs186189112^1,2		--	45809697(+)	`TTATCA/GCTTTG`	1	--	ut3¹		0	--	--	--	--
rs17875629^1,2	C,F,H	--	45809750(-)	`TCTAGT/CTAATG`	1	--	ut3¹ ese³		14		NS NA WA	1526
rs17875628^1,2	C,F	--	45809886(-)	`CTCTCT/CCCACC`	1	--	ut3¹ ese³		4		NS WA	210

HapMap Linkage Disequilibrium report for CKM (45809671 - 45826235 bp)

Structural Variations
Database of Genomic Variants (DGV) 10 variations for CKM: About this table

Variant ID	Type	Subtype	PubMed ID
esv2660204	CNV	Deletion	23128226
nsv912147	CNV	Loss	21882294
nsv833845	CNV	Loss	17160897
nsv912151	CNV	Loss	21882294
nsv912145	CNV	Loss	21882294
nsv833844	CNV	Loss	17160897
dgv3951n71	CNV	Loss	21882294
nsv912146	CNV	Loss	21882294
dgv3952n71	CNV	Gain	21882294
nsv912150	CNV	Gain	21882294

Human Gene Mutation Database (HGMD): CKM

Site Specific Mutation Identification with PCR Assays

SeqTarget long-range PCR primers for resequencing CKM

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 123310 OMIM disorders: --

Selected diseases for CKM (see all 38):
About MalaCards

subvalvular aortic stenosis mcleod syndrome neuroacanthocytosis hemophilia b

myocardial infarction hemophilia varicocele myotonic dystrophy

duchenne muscular dystrophy ischemic heart disease cblc acute myocardial infarction

neuromuscular disease dengue hemorrhagic fever glucose intolerance glycogen storage disease

myositis muscular dystrophy hemorrhagic fever epididymitis

2 diseases from the University of Copenhagen DISEASES database for CKM:

Myocardial infarction Myopathy

CKM for disorders About GeneDecksing

Selected Novoseek inferred disease relationships for CKM gene (see all 15) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
myotonic dystrophy	75.8	19	2016086 (2), 2320244 (1), 1971149 (1), 2300239 (1) (see all 14)
muscular dystrophies	53.9	2	12609502 (1), 11287429 (1)
muscular dystrophy duchenne	37	1	9274724 (1)
rhabdomyolysis	22.1	1	9522498 (1)
ureteral stone	19.6	2	1921018 (1), 1413305 (1)
acute myocardial infarction	14.4	1	7656437 (1)
urolithiasis	14.1	2	1921018 (1), 1413305 (1)
myositis	9.45	1	1370861 (1)
renal stone	7.03	2	1921018 (1), 1413305 (1)
necrosis	3.86	1	8617220 (1)

Genetic Association Database (GAD): CKM
Human Genome Epidemiology (HuGE) Navigator: CKM (13 documents)

Export disorders for CKM 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)
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PubMed articles for CKM gene, integrated from 10 sources (see all 250):
(articles sorted by number of sources associating them with CKM)

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

Muscle-specific creatine kinase gene polymorphism and running economy responses to an 18-week 5000-m training programme. (PubMed id 17000714)^{1, 4, 7, 9} Zhou D.Q....Wen L. (Br J Sports Med 2006)
Is there an association between ACE and CKMM polymorphisms and cycling performance status during 3-week races? (PubMed id 16037885)^{1, 4, 9} LucA-a A....Earnest C.P. (Int J Sports Med 2005)
Muscle creatine kinase isoenzyme expression in adult human brain. (PubMed id 1690725)^{1, 2, 9} Hamburg R.J.... Perryman M.B. (J. Biol. Chem. 1990)
Does the polygenic profile determine the potential for becoming a world-class athlete? Insights from the sport of rowing. (PubMed id 19422651)^{1, 4, 9} Santiago C....Lucia A. (amp 2010)
[An A/G polymorphism in muscle-specific creatine kinase gene in Han population in Northern China]. (PubMed id 16120572)^{1, 4, 9} Zhou D.Q....Gong L. (Yi Chuan 2005)
The caregene study: muscle-specific creatine kinase gene and aerobic power in coronary artery disease. (PubMed id 16079652)^{1, 4, 9} Defoor J....Vanhees L. (amp 2005)
Crystallization and preliminary X-ray analysis of human muscle creatine kinase. (PubMed id 10089465)^{1, 2, 9} Tang L.... Lin Z.J. (Acta Crystallogr. D 1999)
Dengue hemorrhagic fever is associated with polymorphisms in JAK1. (PubMed id 20588308)^{1, 4} Silva L.K....Teixeira M.G. (Eur. J. Hum. Genet. 2010)
Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)^{1, 4} Bailey S.D....Anand S. (Diabetes Care 2010)
World-class performance in lightweight rowing: is it genetically influenced? A comparison with cyclists, runners and non-athletes. (PubMed id 18801770)^{1, 4} Muniesa C.A....Lucia A. (Br J Sports Med 2010)

(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)
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Entrez Gene: 1158	HGNC: 1994	AceView: CKM	Ensembl:ENSG00000104879	euGenes: HUgn1158
ECgene: CKM	Kegg: 1158	H-InvDB: CKM

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for CKM	Pharmacogenomics, SNPs, Pathways
Wikipedia	http://en.wikipedia.org/wiki/Creatine_kinase
SeattleSNPs	http://pga.gs.washington.edu/data/ckm/
Wikipedia	http://en.wikipedia.org/wiki/CKM_(gene)

Intellectual Property for CKM gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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

GeneCards and IP:
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(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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