Property Summary

NCBI Gene PubMed Count 14
PubMed Score 166.32
PubTator Score 9.17

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (3)

Disease Target Count P-value
osteosarcoma 7933 4.92098554704182E-5
astrocytic glioma 2241 0.0012463865601126
oligodendroglioma 2849 0.00307622421330951
ependymoma 2514 0.00680897587892137
Disease Target Count Z-score Confidence
Fibrosarcoma 12 5.972 3.0
Cystinuria 18 4.564 2.3

Expression

  Differential Expression (4)

Disease log2 FC p
astrocytic glioma -1.800 0.001
ependymoma -1.600 0.007
oligodendroglioma -1.800 0.003
osteosarcoma -2.272 0.000

Synonym

Accession Q7Z624 Q4ZG15 Q53SS6 Q8N6P5 Q9H5G8 CLNMT
Symbols Cam
KMT
CLNMT
C2orf34
CaM KMT

Gene

PDB

4PWY  

  Ortholog (5)

Species Source
Macaque OMA EggNOG Inparanoid
Mouse OMA EggNOG Inparanoid
Dog OMA EggNOG Inparanoid
Cow OMA EggNOG
Xenopus OMA EggNOG Inparanoid

Gene RIF (7)

PMID Text
23794250 Deletion of CAMKMT is associated with Hypotonia-cystinuria syndrome.
23285036 The CaM KMT is the major, possibly the single, methyltransferase of calmodulin in human cells with a wide tissue distribution and is a novel Hsp90 client protein.
20975703 Calmodulin methyltransferase is an evolutionarily conserved enzyme that trimethylates Lys-115 in calmodulin.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20200953 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
19575798 Two key transcription factors, NRF-2 and YY-1, were further identified to coordinately participate in driving gene expressions of PREPL-C2ORF34 genes pairin an additive manner.
18234729 a deletion of C2orf34 causes atypical hypotonia-cystinuria syndrome

AA Sequence

MESRVADAGTGETARAAGGSPAVGCTTRGPVVSAPLGAARWKLLRQVLKQKHLDDCLRHVSVRRFESFNL      1 - 70
FSVTEGKERETEEEVGAWVQYTSIFCPEYSISLRHNSGSLNVEDVLTSFDNTGNVCIWPSEEVLAYYCLK     71 - 140
HNNIFRALAVCELGGGMTCLAGLMVAISADVKEVLLTDGNEKAIRNVQDIITRNQKAGVFKTQKISSCVL    141 - 210
RWDNETDVSQLEGHFDIVMCADCLFLDQYRASLVDAIKRLLQPRGKAMVFAPRRGNTLNQFCNLAEKAGF    211 - 280
CIQRHENYDEHISNFHSKLKKENPDIYEENLHYPLLLILTKHG                               281 - 323
//

Text Mined References (19)

PMID Year Title
24025145 2013 A genome-wide association study of chemotherapy-induced alopecia in breast cancer patients.
23794250 2013 Further delineation of genotype-phenotype correlation in homozygous 2p21 deletion syndromes: first description of patients without cystinuria.
23349634 2013 A newly uncovered group of distantly related lysine methyltransferases preferentially interact with molecular chaperones to regulate their activity.
23285036 2012 Human calmodulin methyltransferase: expression, activity on calmodulin, and Hsp90 dependence.
22610502 2012 Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.
21269460 2011 Initial characterization of the human central proteome.
20975703 2010 Calmodulin methyltransferase is an evolutionarily conserved enzyme that trimethylates Lys-115 in calmodulin.
20881960 2010 Hundreds of variants clustered in genomic loci and biological pathways affect human height.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20200953 2010 Genome-wide pleiotropy of osteoporosis-related phenotypes: the Framingham Study.
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