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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 Protein methylation and Phototransduction. 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.

Additional gene information for CAMKMT Gene

No data available for CIViC summary , 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
GH02H044578 1.3 FANTOM5 Ensembl ENCODE 4.9 +217.1 217089 1 PKNOX1 JUN BATF RFX5 RCOR1 ATF7 RUNX3 DEK CHD2 JUNB CAMKMT GC02P044580 GC02P044396
GH02H044134 1.2 Ensembl ENCODE dbSUPER 5.1 -225.4 -225372 4 GTF2F1 FOXA2 JUN MAX CEBPG CTBP1 POLR2A RCOR1 NFE2 CEBPB CAMKMT RNU6-566P ENSG00000219391
GH02H044420 0.4 dbSUPER 5.5 +59.4 59416 0 ATF2 EZH2 CAMKMT GC02P044396 GC02P044580
GH02H044419 0.4 dbSUPER 4.5 +57.7 57656 0 ATF7 ATF2 CAMKMT GC02P044396 GC02P044580
GH02H044437 0.3 FANTOM5 5.6 +75.9 75941 0 CAMKMT GC02P044396 GC02P044580
- 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
ENSR00000116294 -4 2601 HDGF FOXA2 PKNOX1 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 YY1

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

Gene 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

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

Phenotypes From GWAS Catalog 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 --
GO:0031072 heat shock protein binding IPI 23349634
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

CRISPR Products

miRNA for CAMKMT Gene

miRTarBase miRNAs that target CAMKMT

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for CAMKMT
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CAMKMT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005737 cytoplasm IDA 23349634
GO:0005794 Golgi apparatus IEA --
GO:0005829 cytosol TAS --
GO:0043234 protein complex IDA 23349634
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:0006479 protein methylation TAS --
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

(1) Drugs for CAMKMT Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
s-adenosylhomocysteine Experimental Pharma 0

(1) Additional Compounds for CAMKMT Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
s-adenosylmethionine
  • (3S)-5'-[(3-amino-3-carboxypropyl)methylsulfonio]-5'-deoxyadenosine
  • 2-S-Adenosyl-L-methionine
  • 5'-Deoxyadenosine-5'-L-methionine disulfate ditosylate
  • 5'-Deoxyadenosine-5'-L-methionine disulphate ditosylate
  • Active methionine
29908-03-0
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for CAMKMT
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 CGAP 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.

Evidence on tissue expression from TISSUES for CAMKMT Gene

  • Lung(4.2)
  • Nervous system(4.2)
  • Intestine(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CAMKMT Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • chin
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • pituitary gland
  • skull
  • vocal cord
Thorax:
  • breast
  • heart
  • lung
Abdomen:
  • intestine
  • kidney
  • large intestine
  • small intestine
  • stomach
Pelvis:
  • ovary
  • penis
  • prostate
  • testicle
  • ureter
  • urinary bladder
  • uterus
  • vagina
  • vulva
General:
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
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 33 34
  • 99.69 (n)
dog
(Canis familiaris)
Mammalia CAMKMT 33 34
  • 92.05 (n)
cow
(Bos Taurus)
Mammalia CAMKMT 33 34
  • 91.23 (n)
oppossum
(Monodelphis domestica)
Mammalia CAMKMT 34
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Camkmt 33 16 34
  • 88.24 (n)
rat
(Rattus norvegicus)
Mammalia Camkmt 33
  • 86.89 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CAMKMT 34
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves CAMKMT 33
  • 80.26 (n)
lizard
(Anolis carolinensis)
Reptilia CAMKMT 34
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia camkmt 33
  • 72.66 (n)
zebrafish
(Danio rerio)
Actinopterygii si:ch73-54n14.2 33
  • 62.32 (n)
camkmt 34
  • 60 (a)
OneToMany
CAMKMT (1 of 2) 34
  • 38 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009131 33
  • 48.95 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG10947 33 34
  • 47.03 (n)
worm
(Caenorhabditis elegans)
Secernentea Y48E1C.1 34
  • 8 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G35987 33
  • 45.57 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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
rs1000007622 -- 44,365,182(+) GTGGG(A/G)CATCT intron-variant
rs1000033758 -- 44,665,133(+) TGGTG(C/T)GATCT intron-variant
rs1000035144 -- 44,417,609(+) GTACA(C/T)TTAAC intron-variant
rs1000036992 -- 44,519,446(+) TGTCT(A/G)AACTG intron-variant
rs1000040288 -- 44,364,989(+) TTCCT(G/T)GGAGG intron-variant

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

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

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
  • cystinuria with mitochondrial disease
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 RL (Nature communications 2010) 2 3 4 60
  2. Human calmodulin methyltransferase: expression, activity on calmodulin, and Hsp90 dependence. (PMID: 23285036) Magen S … Parvari R (PloS one 2012) 3 4 60
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 60
  5. 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 genetics 2013) 3 60

Products for CAMKMT Gene

Sources for CAMKMT Gene

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