Property Summary

NCBI Gene PubMed Count 29
PubMed Score 9.73
PubTator Score 8.43

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (2)

Disease Target Count
Cleft Lip 91
Cleft palate 125
Disease Target Count P-value
malignant mesothelioma 3163 3.27242813812338E-9
atypical teratoid/rhabdoid tumor 1095 1.88885368639484E-5
lung cancer 4473 6.87377640651237E-4
ductal carcinoma in situ 1745 8.7822986316271E-4
Atopic dermatitis 944 9.20899628955696E-4
invasive ductal carcinoma 2950 0.00184230927230875
colon cancer 1475 0.00269747506132508
pancreatic ductal adenocarcinoma liver metastasis 1795 0.00312022945110595
breast carcinoma 1614 0.00852793332755355
nephrosclerosis 329 0.0102418849145663
subependymal giant cell astrocytoma 2287 0.012394525912431
adrenocortical carcinoma 1427 0.0249218225478081
fibroadenoma 557 0.0318592206497893
osteosarcoma 7933 0.0377341977265215

Expression

  Differential Expression (14)

Disease log2 FC p
nephrosclerosis -1.811 0.010
malignant mesothelioma 4.800 0.000
osteosarcoma 1.780 0.038
Atopic dermatitis -1.100 0.001
adrenocortical carcinoma -1.282 0.025
pancreatic ductal adenocarcinoma liver m... -2.700 0.003
lung cancer 2.100 0.001
colon cancer -1.400 0.003
breast carcinoma -1.100 0.009
fibroadenoma -1.500 0.032
atypical teratoid/rhabdoid tumor -1.100 0.000
subependymal giant cell astrocytoma 3.081 0.012
ductal carcinoma in situ -2.900 0.001
invasive ductal carcinoma -3.500 0.002

Synonym

Gene

PANTHER Protein Class (2)

  Ortholog (7)

Species Source
Chimp OMA EggNOG
Macaque OMA EggNOG Inparanoid
Mouse OMA EggNOG Inparanoid
Rat OMA EggNOG Inparanoid
Cow OMA EggNOG
Opossum OMA EggNOG Inparanoid
Platypus OMA EggNOG

Gene RIF (20)

PMID Text
26612412 A three-way interaction among maternal and fetal variants in BHMT2, GSTP1 and GPX3 contribute to congenital heart defects
26213999 The faster evolutionary rate of BHMT2 overall suggests that selective constraints were reduced relative to BHMT.
25846410 Multiple SNPs in BHMT and BHMT2 were identified to be associated with the occurrence of infant obstructive heart defects and interaction effects with maternal use of folic acid supplements.
21564312 No significant level of association was found with cleft lip with or without cleft palate and BHMT2 variants.
20662904 gene-gene interaction analysis revealed a significant epistatic interaction of BHMT2 (rs673752), PEMT (rs12325817), and PCYT1A (rs712012) with maternal NCL/P susceptibility.
20662904 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
20634891 Observational study of gene-disease association. (HuGE Navigator)
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20458436 Observational study of gene-disease association. (HuGE Navigator)
19948975 Observational study of gene-disease association, gene-gene interaction, gene-environment interaction, and genetic testing. (HuGE Navigator)
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AA Sequence

MAPAGRPGAKKGILERLESGEVVIGDGSFLITLEKRGYVKAGLWTPEAVIEHPDAVRQLHMEFLRAGSNV      1 - 70
MQTFTFSASEDNMESKWEDVNAAACDLAREVAGKGDALVAGGICQTSIYKYQKDEARIKKLFRQQLEVFA     71 - 140
WKNVDFLIAEYFEHVEEAVWAVEVLKESDRPVAVTMCIGPEGDMHDITPGECAVRLVKAGASIVGVNCRF    141 - 210
GPDTSLKTMELMKEGLEWAGLKAHLMVQPLGFHAPDCGKEGFVDLPEYPFGLESRVATRWDIQKYAREAY    211 - 280
NLGVRYIGGCCGFEPYHIRAIAEELAPERGFLPPASEKHGSWGSGLDMHTKPWIRARARREYWENLLPAS    281 - 350
GRPFCPSLSKPDF                                                             351 - 363
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Text Mined References (31)

PMID Year Title
26612412 2016 A Three-Way Interaction among Maternal and Fetal Variants Contributing to Congenital Heart Defects.
26213999 2015 Evolutionary Analyses and Natural Selection of Betaine-Homocysteine S-Methyltransferase (BHMT) and BHMT2 Genes.
25846410 2015 Obstructive heart defects associated with candidate genes, maternal obesity, and folic acid supplementation.
25343990 2015 Genome-wide association study of selenium concentrations.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23720494 2013 Genome-wide association study identifies loci affecting blood copper, selenium and zinc.
23533145 2013 In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine.
23378610 2013 Genetic variants associated with glycine metabolism and their role in insulin sensitivity and type 2 diabetes.
21564312 2011 New evidence for the role of cystathionine beta-synthase in non-syndromic cleft lip with or without cleft palate.
20662904 2010 Polymorphisms located in the region containing BHMT and BHMT2 genes as maternal protective factors for orofacial clefts.
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