Property Summary

NCBI Gene PubMed Count 14
PubMed Score 166.32
PubTator Score 9.17

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (3)

Disease Target Count P-value
osteosarcoma 7933 4.9e-05
astrocytic glioma 2241 1.2e-03
oligodendroglioma 2849 3.1e-03
ependymoma 2514 6.8e-03
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 1.2e-03
ependymoma -1.600 6.8e-03
oligodendroglioma -1.800 3.1e-03
osteosarcoma -2.272 4.9e-05

Protein-protein Interaction (5)

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.
19575798 2009 Cooperation between NRF-2 and YY-1 transcription factors is essential for triggering the expression of the PREPL-C2ORF34 bidirectional gene pair.
18234729 2008 Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia-cystinuria syndrome.
17207965 2007 hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15913950 2005 The 2p21 deletion syndrome: characterization of the transcription content.
15815621 2005 Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.