CAMKMT (calmodulin-lysine N-methyltransferase)

2014-11-01 Affiliation

Identity

HGNC

CAMKMT

LOCATION

2p21

LOCUSID

79823

ALIAS

C2orf34,CLNMT,CaM KMT,Cam,KMT

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 79823
MIM: 609559
HGNC: 26276
Ensembl: ENSG00000143919

Variants:

dbSNP: 79823
ClinVar: 79823
TCGA: ENSG00000143919
COSMIC: CAMKMT

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000143919	ENST00000378494	Q7Z624
ENSG00000143919	ENST00000402247	B5MC16
ENSG00000143919	ENST00000403853	Q7Z624
ENSG00000143919	ENST00000407131	B5MC79
ENSG00000143919	ENST00000428929	H7C2T0
ENSG00000143919	ENST00000428993	H7C3B0
ENSG00000143919	ENST00000454433	H7C2N4
ENSG00000143919	ENST00000613618	A0A0C4DGY0

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Lysine degradation	KEGG	ko00310
Lysine degradation	KEGG	hsa00310
Metabolism of proteins	REACTOME	R-HSA-392499
Post-translational protein modification	REACTOME	R-HSA-597592
Signal Transduction	REACTOME	R-HSA-162582
Visual phototransduction	REACTOME	R-HSA-2187338
The phototransduction cascade	REACTOME	R-HSA-2514856
Inactivation, recovery and regulation of the phototransduction cascade	REACTOME	R-HSA-2514859
Protein methylation	REACTOME	R-HSA-8876725

References

Pubmed ID	Year	Title	Citations
20379614	2010	Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.	62
20975703	2010	Calmodulin methyltransferase is an evolutionarily conserved enzyme that trimethylates Lys-115 in calmodulin.	43
20200953	2010	Genome-wide pleiotropy of osteoporosis-related phenotypes: the Framingham Study.	27
18234729	2008	Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia-cystinuria syndrome.	15
23285036	2012	Human calmodulin methyltransferase: expression, activity on calmodulin, and Hsp90 dependence.	8
23794250	2013	Further delineation of genotype-phenotype correlation in homozygous 2p21 deletion syndromes: first description of patients without cystinuria.	8
19575798	2009	Cooperation between NRF-2 and YY-1 transcription factors is essential for triggering the expression of the PREPL-C2ORF34 bidirectional gene pair.	6

Citation

Dessen P

CAMKMT (calmodulin-lysine N-methyltransferase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61396/camkmt