Property Summary

NCBI Gene PubMed Count 14
Grant Count 43
R01 Count 16
Funding $10,135,757.59
PubMed Score 166.32
PubTator Score 9.17

Knowledge Summary

Patent

No data available

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

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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