Gene Gene information from NCBI Gene database.
Entrez ID 79823
Gene name Calmodulin-lysine N-methyltransferase
Gene symbol CAMKMT
Synonyms (NCBI Gene)
C2orf34CLNMTCaM KMTCamKMT
Chromosome 2
Chromosome location 2p21
Summary 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]
miRNA miRNA information provided by mirtarbase database.
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
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
18
GO ID Ontology Definition Evidence Reference
GO:0005634 Component Nucleus IEA
GO:0005654 Component Nucleoplasm IDA
GO:0005730 Component Nucleolus IDA
GO:0005737 Component Cytoplasm IDA 23349634
GO:0005737 Component Cytoplasm IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609559 26276 ENSG00000143919
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
ASLVDAIKRLLQPRGKAMVFAPRRGNTLNQFCNLAEKA
GFCIQRHENYDEHISNFHSKLK
KENPDIYEENLHYPLLLILTKHG
Sequence length 323
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Lysine degradation
Metabolic pathways
  Inactivation, recovery and regulation of the phototransduction cascade
Protein methylation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
18
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATYPICAL HYPOTONIA CYSTINURIA SYNDROME Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATYPICAL HYPOTONIA-CYSTINURIA SYNDROME Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CANNABIS DEPENDENCE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
2p21 microdeletion syndrome 2p21 microdeletion syndrome ORPHANET_DG 11524703
★☆☆☆☆
Found in Text Mining only
2p21 microdeletion syndrome 2p21 microdeletion syndrome Orphanet
★☆☆☆☆
Found in Text Mining only
2p21 microdeletion syndrome without cystinuria 2p21 microdeletion syndrome without cystinuria ORPHANET_DG 23794250
★☆☆☆☆
Found in Text Mining only
2p21 microdeletion syndrome without cystinuria 2p21 microdeletion syndrome without cystinuria Orphanet
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 8169749
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of colon Adenocarcinoma Of Colon BEFREE 26824338
★☆☆☆☆
Found in Text Mining only
Adenoid Cystic Carcinoma Adenocarcinoma BEFREE 9374166
★☆☆☆☆
Found in Text Mining only
Adult Learning Disorders Learning Disorders CTD_human_DG 26247364
★☆☆☆☆
Found in Text Mining only
Adult onset autosomal dominant leukodystrophy Leukodystrophy BEFREE 19725832
★☆☆☆☆
Found in Text Mining only
Anemia, Sickle Cell Anemia BEFREE 14755370
★☆☆☆☆
Found in Text Mining only