Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	79823
Gene name Gene Name - the full gene name approved by the HGNC.	Calmodulin-lysine N-methyltransferase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	CAMKMT
Synonyms (NCBI Gene) Gene synonyms aliases	C2orf34, CLNMT, CaM KMT, Cam, KMT
Chromosome Chromosome number	2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	2p21
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a class I protein methyltransferase that acts in the formation of trimethyllysine in calmodulin. The protein contains a AdoMet-binding motif and may play a role in calcium-dependent signaling. [provided by RefSeq, Sep 2012]

Show/Hide all(102)

miRTarBase ID	miRNA	Experiments	Reference
MIRT030210	hsa-miR-26b-5p	Microarray	19088304
MIRT860541	hsa-miR-1226	CLIP-seq
MIRT860542	hsa-miR-1286	CLIP-seq
MIRT860543	hsa-miR-1296	CLIP-seq
MIRT860544	hsa-miR-1297	CLIP-seq
MIRT860545	hsa-miR-1324	CLIP-seq
MIRT860546	hsa-miR-197	CLIP-seq
MIRT860547	hsa-miR-21	CLIP-seq
MIRT860548	hsa-miR-224	CLIP-seq
MIRT860549	hsa-miR-26a	CLIP-seq
MIRT860550	hsa-miR-26b	CLIP-seq
MIRT860551	hsa-miR-2909	CLIP-seq
MIRT860552	hsa-miR-375	CLIP-seq
MIRT860553	hsa-miR-4436b-3p	CLIP-seq
MIRT860554	hsa-miR-4465	CLIP-seq
MIRT860555	hsa-miR-4514	CLIP-seq
MIRT860556	hsa-miR-4643	CLIP-seq
MIRT860557	hsa-miR-466	CLIP-seq
MIRT860558	hsa-miR-4692	CLIP-seq
MIRT860559	hsa-miR-4733-3p	CLIP-seq
MIRT860560	hsa-miR-4761-3p	CLIP-seq
MIRT860561	hsa-miR-4789-3p	CLIP-seq
MIRT860562	hsa-miR-4789-5p	CLIP-seq
MIRT860563	hsa-miR-590-5p	CLIP-seq
MIRT860564	hsa-miR-759	CLIP-seq
MIRT860541	hsa-miR-1226	CLIP-seq
MIRT860544	hsa-miR-1297	CLIP-seq
MIRT860545	hsa-miR-1324	CLIP-seq
MIRT860546	hsa-miR-197	CLIP-seq
MIRT860547	hsa-miR-21	CLIP-seq
MIRT860548	hsa-miR-224	CLIP-seq
MIRT860549	hsa-miR-26a	CLIP-seq
MIRT860550	hsa-miR-26b	CLIP-seq
MIRT860552	hsa-miR-375	CLIP-seq
MIRT860554	hsa-miR-4465	CLIP-seq
MIRT860555	hsa-miR-4514	CLIP-seq
MIRT860558	hsa-miR-4692	CLIP-seq
MIRT860559	hsa-miR-4733-3p	CLIP-seq
MIRT860562	hsa-miR-4789-5p	CLIP-seq
MIRT860563	hsa-miR-590-5p	CLIP-seq
MIRT860541	hsa-miR-1226	CLIP-seq
MIRT860544	hsa-miR-1297	CLIP-seq
MIRT860545	hsa-miR-1324	CLIP-seq
MIRT860546	hsa-miR-197	CLIP-seq
MIRT860547	hsa-miR-21	CLIP-seq
MIRT860548	hsa-miR-224	CLIP-seq
MIRT860549	hsa-miR-26a	CLIP-seq
MIRT860550	hsa-miR-26b	CLIP-seq
MIRT860554	hsa-miR-4465	CLIP-seq
MIRT860555	hsa-miR-4514	CLIP-seq
MIRT860556	hsa-miR-4643	CLIP-seq
MIRT860557	hsa-miR-466	CLIP-seq
MIRT860558	hsa-miR-4692	CLIP-seq
MIRT860559	hsa-miR-4733-3p	CLIP-seq
MIRT860561	hsa-miR-4789-3p	CLIP-seq
MIRT860562	hsa-miR-4789-5p	CLIP-seq
MIRT860563	hsa-miR-590-5p	CLIP-seq
MIRT860542	hsa-miR-1286	CLIP-seq
MIRT860543	hsa-miR-1296	CLIP-seq
MIRT2496188	hsa-miR-185	CLIP-seq
MIRT2496189	hsa-miR-1908	CLIP-seq
MIRT860547	hsa-miR-21	CLIP-seq
MIRT860551	hsa-miR-2909	CLIP-seq
MIRT2496190	hsa-miR-3135b	CLIP-seq
MIRT2496191	hsa-miR-3616-3p	CLIP-seq
MIRT2496192	hsa-miR-4300	CLIP-seq
MIRT2496193	hsa-miR-4306	CLIP-seq
MIRT2496194	hsa-miR-4419a	CLIP-seq
MIRT860553	hsa-miR-4436b-3p	CLIP-seq
MIRT2496195	hsa-miR-4487	CLIP-seq
MIRT2496196	hsa-miR-4510	CLIP-seq
MIRT860555	hsa-miR-4514	CLIP-seq
MIRT860556	hsa-miR-4643	CLIP-seq
MIRT2496197	hsa-miR-4644	CLIP-seq
MIRT860557	hsa-miR-466	CLIP-seq
MIRT860558	hsa-miR-4692	CLIP-seq
MIRT2496198	hsa-miR-4706	CLIP-seq
MIRT2496199	hsa-miR-4728-5p	CLIP-seq
MIRT2496200	hsa-miR-4749-5p	CLIP-seq
MIRT860560	hsa-miR-4761-3p	CLIP-seq
MIRT860561	hsa-miR-4789-3p	CLIP-seq
MIRT860562	hsa-miR-4789-5p	CLIP-seq
MIRT2496201	hsa-miR-548u	CLIP-seq
MIRT2496202	hsa-miR-583	CLIP-seq
MIRT860563	hsa-miR-590-5p	CLIP-seq
MIRT2496203	hsa-miR-663	CLIP-seq
MIRT860564	hsa-miR-759	CLIP-seq
MIRT2496204	hsa-miR-920	CLIP-seq
MIRT860542	hsa-miR-1286	CLIP-seq
MIRT860543	hsa-miR-1296	CLIP-seq
MIRT860547	hsa-miR-21	CLIP-seq
MIRT860551	hsa-miR-2909	CLIP-seq
MIRT860553	hsa-miR-4436b-3p	CLIP-seq
MIRT860555	hsa-miR-4514	CLIP-seq
MIRT860556	hsa-miR-4643	CLIP-seq
MIRT860557	hsa-miR-466	CLIP-seq
MIRT860558	hsa-miR-4692	CLIP-seq
MIRT860560	hsa-miR-4761-3p	CLIP-seq
MIRT860561	hsa-miR-4789-3p	CLIP-seq
MIRT860562	hsa-miR-4789-5p	CLIP-seq
MIRT2496201	hsa-miR-548u	CLIP-seq
MIRT860563	hsa-miR-590-5p	CLIP-seq

Show/Hide all(12)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IDA	23349634
GO:0005794	Component	Golgi apparatus	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006479	Process	Protein methylation	TAS
GO:0007005	Process	Mitochondrion organization	IEA
GO:0018022	Process	Peptidyl-lysine methylation	IEA
GO:0018025	Function	Calmodulin-lysine N-methyltransferase activity	IBA	21873635
GO:0018025	Function	Calmodulin-lysine N-methyltransferase activity	TAS
GO:0022400	Process	Regulation of rhodopsin mediated signaling pathway	TAS
GO:0031072	Function	Heat shock protein binding	IPI	23349634
GO:0032991	Component	Protein-containing complex	IDA	23349634

MIM	HGNC	e!Ensembl
609559	26276	ENSG00000143919

Protein

UniProt ID

Q7Z624

Protein name

Calmodulin-lysine N-methyltransferase (CLNMT) (CaM KMT) (EC 2.1.1.60)

Protein function

Catalyzes the trimethylation of 'Lys-116' in calmodulin.

PDB

4PWY

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF10294	Methyltransf_16	110 → 278	Lysine methyltransferase	Family

Tissue specificity

TISSUE SPECIFICITY: Isoform 1 is expressed in brain, liver, muscle colon and lung. Isoform 2 is expressed in colon, testis, kidney and brain. Isoform 1 and isoform 2 are expressed in normal lymphoblastoid cells but not in lymphoblastoid cells from patient

Sequence

MESRVADAGTGETARAAGGSPAVGCTTRGPVVSAPLGAARWKLLRQVLKQKHLDDCLRHV
SVRRFESFNLFSVTEGKERETEEEVGAWVQYTSIFCPEYSISLRHNSGSLNVEDVLTSFD
NTGNVCIWPSEEVLAYYCLKHNNIFRALAVCELGGGMTCLAGLMVAISADVKEVLLTDGN
EKAIRNVQDIITRNQKAGVFKTQKISSCVLRWDNETDVSQLEGHFDIVMCADCLFLDQYR
ASLVDAIKRLLQPRGKAMVFAPRRGNTLNQFCNLAEKAGFCIQRHENYDEHISNFHSKLK
KENPDIYEENLHYPLLLILTKHG

Sequence length

323

Interactions

View interactions

	KEGG		Reactome
	Lysine degradation Metabolic pathways		Inactivation, recovery and regulation of the phototransduction cascade Protein methylation

Show/Hide Causal Diseases (4)

Disease term	Disease name	dbSNP ID	References
Causal
Cystinuria	Cystinuria	rs121908479, rs121908480, rs121908482, rs121908483, rs121908484, rs121908485, rs121912691, rs121912693, rs121912694, rs387907276, rs797044609, rs1085307095, rs886042834, rs745319034, rs200483989 View all (20 more)
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)
Mental retardation	Moderate intellectual disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315 View all (1024 more)
Mitochondrial myopathy	Mitochondrial Myopathies	rs121434454	26247364

Show/Hide Unknown Diseases (2)

Disease term	Disease name	Source
Unknown
Metabolic Syndrome	Metabolic Syndrome	GWAS
Diabetes	Diabetes	GWAS

Show/Hide Text Mining Associations (2)

Disease Name	Relationship Type	References
Associations from Text Mining
DNA Virus Infections	Associate	26317544
Hypotonia Cystinuria Syndrome	Associate	28726805

CAMKMT (calmodulin-lysine N-methyltransferase)