TCN2 (transcobalamin 2)

2010-06-01  

Identity

HGNC
LOCATION
22q12.2
LOCUSID
ALIAS
D22S676,D22S750,II,TC,TC
FUSION GENES

Other Information

Locus ID:

NCBI: 6948
MIM: 613441
HGNC: 11653
Ensembl: ENSG00000185339

Variants:

dbSNP: 6948
ClinVar: 6948
TCGA: ENSG00000185339
COSMIC: TCN2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000185339ENST00000215838P20062
ENSG00000185339ENST00000405742B5MBX2
ENSG00000185339ENST00000407817P20062
ENSG00000185339ENST00000450638F8WE86

Expression (GTEx)

0
10
20
30
40
50
60
70
80

Pathways

PathwaySourceExternal ID
Vitamin digestion and absorptionKEGGko04977
Vitamin digestion and absorptionKEGGhsa04977
DiseaseREACTOMER-HSA-1643685
Diseases of metabolismREACTOMER-HSA-5668914
Defects in vitamin and cofactor metabolismREACTOMER-HSA-3296482
Defects in cobalamin (B12) metabolismREACTOMER-HSA-3296469
Defective TCN2 causes hereditary megaloblastic anemiaREACTOMER-HSA-3359454
Defective CD320 causes methylmalonic aciduriaREACTOMER-HSA-3359485
MetabolismREACTOMER-HSA-1430728
Metabolism of vitamins and cofactorsREACTOMER-HSA-196854
Metabolism of water-soluble vitamins and cofactorsREACTOMER-HSA-196849
Cobalamin (Cbl, vitamin B12) transport and metabolismREACTOMER-HSA-196741

References

Pubmed IDYearTitleCitations
169179392006Metabolic endophenotype and related genotypes are associated with oxidative stress in children with autism.138
174363112007Large-scale population-based metabolic phenotyping of thirteen genetic polymorphisms related to one-carbon metabolism.51
174499062007Genetic polymorphisms in one-carbon metabolism: associations with CpG island methylator phenotype (CIMP) in colon cancer and the modifying effects of diet.46
170351412006Neural tube defects and folate pathway genes: family-based association tests of gene-gene and gene-environment interactions.38
188187482008Preterm birth in Caucasians is associated with coagulation and inflammation pathway gene variants.31
195275142009Racial disparity in pathophysiologic pathways of preterm birth based on genetic variants.31
191611602009An association study of 45 folate-related genes in spina bifida: Involvement of cubilin (CUBN) and tRNA aspartic acid methyltransferase 1 (TRDMT1).30
200315542008Variants of folate metabolism genes and the risk of conotruncal cardiac defects.29
206643912010Maternal folate-related gene environment interactions and congenital heart defects.27
164707482006Study of four genes belonging to the folate pathway: transcobalamin 2 is involved in the onset of non-syndromic cleft lip with or without cleft palate.26

Citation

Dessen P

TCN2 (transcobalamin 2)

Atlas Genet Cytogenet Oncol Haematol. 2010-06-01

Online version: http://atlasgeneticsoncology.org/gene/51539/tcn2