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Aliases for CAMKMT Gene

Aliases for CAMKMT Gene

  • Calmodulin-Lysine N-Methyltransferase 2 3 5
  • CaM KMT 2 3 4
  • C2orf34 3 4
  • CLNMT 3 4
  • Chromosome 2 Open Reading Frame 34 2
  • EC 2.1.1.60 4
  • CaM 3
  • KMT 3

External Ids for CAMKMT Gene

Previous HGNC Symbols for CAMKMT Gene

  • C2orf34

Previous GeneCards Identifiers for CAMKMT Gene

  • GC02P044589

Summaries for CAMKMT Gene

Entrez Gene Summary for CAMKMT 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]

GeneCards Summary for CAMKMT Gene

CAMKMT (Calmodulin-Lysine N-Methyltransferase) is a Protein Coding gene. Diseases associated with CAMKMT include Hypotonia-Cystinuria Syndrome and 2P21 Microdeletion Syndrome Without Cystinuria. Among its related pathways are Metabolism of fat-soluble vitamins and Metabolism of proteins. GO annotations related to this gene include calmodulin-lysine N-methyltransferase activity.

UniProtKB/Swiss-Prot for CAMKMT Gene

  • Catalyzes the trimethylation of Lys-116 in calmodulin.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CAMKMT Gene

Genomics for CAMKMT Gene

Regulatory Elements for CAMKMT Gene

Enhancers for CAMKMT Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02F044134 1.4 Ensembl ENCODE 5.1 -225.4 -225372 5.0 HDGF PKNOX1 MLX ARNT CREB3L1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZFP36L2 PLEKHH2 CAMKMT RNU6-566P ENSG00000219391
GH02F044578 1.3 FANTOM5 Ensembl ENCODE 4.9 +217.2 217197 2.2 TBP PKNOX1 SUZ12 JUN RFX5 RCOR1 EZH2 MTA2 JUNB CEBPB CAMKMT GC02P044580 GC02P044396
GH02F044547 1 Ensembl ENCODE 4.4 +187.0 186990 2.2 HDAC1 JUN ZKSCAN1 ZNF316 GATA3 SCRT2 NR2F6 FOS MAFK TCF7L2 CAMKMT GC02P044580 GC02P044396
GH02F044437 0.3 FANTOM5 5.6 +75.9 75941 0.0 CAMKMT GC02P044396 GC02P044580
GH02F044360 1.1 ENCODE 0.8 0.0 -21 2.7 HDGF PKNOX1 ARNT CREB3L1 MLX WRNIP1 ARID4B SIN3A FEZF1 DMAP1 PLEKHH2 CAMKMT PREPL
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CAMKMT on UCSC Golden Path with GeneCards custom track

Promoters for CAMKMT Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000589319 -204 3401 HDGF PKNOX1 ARNT CREB3L1 MLX WRNIP1 ARID4B SIN3A FEZF1 DMAP1

Genomic Location for CAMKMT Gene

Chromosome:
2
Start:
44,361,904 bp from pter
End:
44,772,592 bp from pter
Size:
410,689 bases
Orientation:
Plus strand

Genomic View for CAMKMT Gene

Genes around CAMKMT on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CAMKMT Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CAMKMT Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CAMKMT Gene

Proteins for CAMKMT Gene

  • Protein details for CAMKMT Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7Z624-CMKMT_HUMAN
    Recommended name:
    Calmodulin-lysine N-methyltransferase
    Protein Accession:
    Q7Z624
    Secondary Accessions:
    • Q4ZG15
    • Q53SS6
    • Q8N6P5
    • Q9H5G8

    Protein attributes for CAMKMT Gene

    Size:
    323 amino acids
    Molecular mass:
    36128 Da
    Quaternary structure:
    • Monomer (By similarity). Interacts with HSP90, probably as a client.

    Three dimensional structures from OCA and Proteopedia for CAMKMT Gene

    Alternative splice isoforms for CAMKMT Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CAMKMT Gene

Post-translational modifications for CAMKMT Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CAMKMT Gene

Domains & Families for CAMKMT Gene

Protein Domains for CAMKMT Gene

Suggested Antigen Peptide Sequences for CAMKMT Gene

Graphical View of Domain Structure for InterPro Entry

Q7Z624

UniProtKB/Swiss-Prot:

CMKMT_HUMAN :
  • Belongs to the class I-like SAM-binding methyltransferase superfamily. CLNMT methyltransferase family.
Family:
  • Belongs to the class I-like SAM-binding methyltransferase superfamily. CLNMT methyltransferase family.
genes like me logo Genes that share domains with CAMKMT: view

No data available for Gene Families for CAMKMT Gene

Function for CAMKMT Gene

Molecular function for CAMKMT Gene

UniProtKB/Swiss-Prot CatalyticActivity:
S-adenosyl-L-methionine + calmodulin L-lysine = S-adenosyl-L-homocysteine + calmodulin N(6)-methyl-L-lysine.
UniProtKB/Swiss-Prot Function:
Catalyzes the trimethylation of Lys-116 in calmodulin.

Enzyme Numbers (IUBMB) for CAMKMT Gene

Gene Ontology (GO) - Molecular Function for CAMKMT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008168 methyltransferase activity IEA --
GO:0016740 transferase activity IEA --
GO:0018025 calmodulin-lysine N-methyltransferase activity TAS --
genes like me logo Genes that share ontologies with CAMKMT: view
genes like me logo Genes that share phenotypes with CAMKMT: view

Human Phenotype Ontology for CAMKMT Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CAMKMT Gene

MGI Knock Outs for CAMKMT:

Animal Model Products

miRNA for CAMKMT Gene

miRTarBase miRNAs that target CAMKMT

Inhibitory RNA Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for CAMKMT Gene

Localization for CAMKMT Gene

Subcellular locations from UniProtKB/Swiss-Prot for CAMKMT Gene

Isoform 1: Cytoplasm. Nucleus.
Isoform 2: Golgi apparatus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CAMKMT gene
Compartment Confidence
nucleus 5
cytosol 5
golgi apparatus 3
cytoskeleton 2
extracellular 1

Gene Ontology (GO) - Cellular Components for CAMKMT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005737 cytoplasm IEA --
GO:0005794 Golgi apparatus IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with CAMKMT: view

Pathways & Interactions for CAMKMT Gene

genes like me logo Genes that share pathways with CAMKMT: view

Gene Ontology (GO) - Biological Process for CAMKMT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007005 mitochondrion organization IEA --
GO:0018022 peptidyl-lysine methylation IEA --
GO:0022400 regulation of rhodopsin mediated signaling pathway TAS --
GO:0032259 methylation IEA --
genes like me logo Genes that share ontologies with CAMKMT: view

No data available for SIGNOR curated interactions for CAMKMT Gene

Drugs & Compounds for CAMKMT Gene

(2) Drugs for CAMKMT Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
S-Adenosylmethionine Approved Nutra 0
s-adenosylhomocysteine Experimental Pharma 0
genes like me logo Genes that share compounds with CAMKMT: view

Transcripts for CAMKMT Gene

Unigene Clusters for CAMKMT Gene

Calmodulin-lysine N-methyltransferase:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CAMKMT Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14
SP1: - - -
SP2: -
SP3: - -

Relevant External Links for CAMKMT Gene

GeneLoc Exon Structure for
CAMKMT
ECgene alternative splicing isoforms for
CAMKMT

Expression for CAMKMT Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CAMKMT Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CAMKMT Gene

This gene is overexpressed in Heart (58.6) and Fetal ovary (10.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CAMKMT Gene



Protein tissue co-expression partners for CAMKMT Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CAMKMT Gene:

CAMKMT

SOURCE GeneReport for Unigene cluster for CAMKMT Gene:

Hs.468349

mRNA Expression by UniProt/SwissProt for CAMKMT Gene:

Q7Z624-CMKMT_HUMAN
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 patients with hypotonia-cystinuria syndrome.
genes like me logo Genes that share expression patterns with CAMKMT: view

Primer Products

No data available for mRNA differential expression in normal tissues for CAMKMT Gene

Orthologs for CAMKMT Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CAMKMT Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CAMKMT 34 35
  • 99.69 (n)
dog
(Canis familiaris)
Mammalia CAMKMT 34 35
  • 92.05 (n)
cow
(Bos Taurus)
Mammalia CAMKMT 34 35
  • 91.23 (n)
oppossum
(Monodelphis domestica)
Mammalia CAMKMT 35
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Camkmt 34 16 35
  • 88.24 (n)
rat
(Rattus norvegicus)
Mammalia Camkmt 34
  • 86.89 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CAMKMT 35
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves CAMKMT 34
  • 80.26 (n)
lizard
(Anolis carolinensis)
Reptilia CAMKMT 35
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia camkmt 34
  • 72.66 (n)
zebrafish
(Danio rerio)
Actinopterygii si:ch73-54n14.2 34
  • 62.32 (n)
camkmt 35
  • 60 (a)
OneToMany
CAMKMT (1 of 2) 35
  • 38 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009131 34
  • 48.95 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG10947 34 35
  • 47.03 (n)
worm
(Caenorhabditis elegans)
Secernentea Y48E1C.1 35
  • 8 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G35987 34
  • 45.57 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 33 (a)
OneToOne
Species where no ortholog for CAMKMT was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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 urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CAMKMT Gene

ENSEMBL:
Gene Tree for CAMKMT (if available)
TreeFam:
Gene Tree for CAMKMT (if available)

Paralogs for CAMKMT Gene

(1) SIMAP similar genes for CAMKMT Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with CAMKMT: view

No data available for Paralogs for CAMKMT Gene

Variants for CAMKMT Gene

Sequence variations from dbSNP and Humsavar for CAMKMT Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs1011797 -- 44,530,078(-) AAATA(C/T)TGACA intron-variant
rs1011798 -- 44,529,849(-) AATTA(C/G)TCACA intron-variant
rs10153682 -- 44,613,959(+) TAATT(A/G)AAGGC intron-variant
rs10153718 -- 44,615,656(+) ATTTG(A/G)GTTGG intron-variant
rs10164919 -- 44,647,949(+) agcaa(C/T)gattg intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CAMKMT Gene

Variant ID Type Subtype PubMed ID
nsv955119 CNV deletion 24416366
nsv955030 CNV deletion 24416366
nsv953777 CNV deletion 24416366
nsv953776 CNV duplication 24416366
nsv833947 CNV gain 17160897
nsv581701 CNV loss 21841781
nsv581700 CNV loss 21841781
nsv581699 CNV loss 21841781
nsv581698 CNV loss 21841781
nsv522689 CNV loss 19592680
nsv514066 CNV loss 21397061
nsv511784 CNV loss 21212237
nsv507010 OTHER sequence alteration 20534489
nsv441756 CNV loss 18776908
nsv214988 CNV deletion 16902084
nsv214031 CNV deletion 16902084
nsv1160787 CNV deletion 26073780
nsv1147867 CNV deletion 26484159
nsv1006405 CNV loss 25217958
nsv1006079 CNV loss 25217958
nsv1000271 CNV loss 25217958
esv3892026 CNV loss 25118596
esv3590568 CNV loss 21293372
esv3590567 CNV loss 21293372
esv3590565 CNV loss 21293372
esv3590563 CNV loss 21293372
esv3590562 CNV loss 21293372
esv3590559 CNV loss 21293372
esv3590557 CNV loss 21293372
esv3590556 CNV loss 21293372
esv3583773 CNV loss 25503493
esv3583772 CNV loss 25503493
esv3583770 CNV loss 25503493
esv3555911 CNV deletion 23714750
esv3555900 CNV deletion 23714750
esv3428918 CNV insertion 20981092
esv2762540 CNV loss 21179565
esv2762539 CNV loss 21179565
esv2720004 CNV deletion 23290073
esv2720003 CNV deletion 23290073
esv2671323 CNV deletion 23128226
esv2662977 CNV deletion 23128226
esv2657450 CNV deletion 23128226
esv2592933 CNV deletion 19546169
esv2480971 CNV deletion 19546169
esv22809 CNV loss 19812545
esv2253758 CNV deletion 18987734
esv1306593 CNV deletion 17803354
esv1206912 CNV deletion 17803354
dgv88n73 CNV deletion 24416366
dgv3801n100 CNV loss 25217958
dgv3800n100 CNV loss 25217958
dgv3798n100 CNV loss 25217958
dgv240e215 CNV deletion 23714750
dgv1902n106 CNV deletion 24896259
dgv1901n106 CNV deletion 24896259

Variation tolerance for CAMKMT Gene

Residual Variation Intolerance Score: 20.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.79; 16.61% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CAMKMT Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CAMKMT

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CAMKMT Gene

Disorders for CAMKMT Gene

MalaCards: The human disease database

(4) MalaCards diseases for CAMKMT Gene - From: Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
hypotonia-cystinuria syndrome
  • 2p21 microdeletion syndrome
2p21 microdeletion syndrome without cystinuria
  • del(2)(p21) without cystinuria
cystinuria
  • csnu
connective tissue cancer
  • connective tissue neoplasm
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for CAMKMT

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CAMKMT
genes like me logo Genes that share disorders with CAMKMT: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CAMKMT Gene

Publications for CAMKMT Gene

  1. Calmodulin methyltransferase is an evolutionarily conserved enzyme that trimethylates Lys-115 in calmodulin. (PMID: 20975703) Magnani R. … Houtz R.L. (Nat. Commun. 2010) 2 3 4 64
  2. Human calmodulin methyltransferase: expression, activity on calmodulin, and Hsp90 dependence. (PMID: 23285036) Magen S. … Parvari R. (PLoS ONE 2012) 3 4 64
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64
  4. A newly uncovered group of distantly related lysine methyltransferases preferentially interact with molecular chaperones to regulate their activity. (PMID: 23349634) Cloutier P. … Coulombe B. (PLoS Genet. 2013) 3 64
  5. A genome-wide association study of chemotherapy-induced alopecia in breast cancer patients. (PMID: 24025145) Chung S. … Nakamura Y. (Breast Cancer Res. 2013) 3 64

Products for CAMKMT Gene

Sources for CAMKMT Gene

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