TCN2 (transcobalamin 2)

2010-06-01  

Identity

HGNC
TCN2
LOCATION
22q12.2
LOCUSID
6948
ALIAS
D22S676,D22S750,II,TC,TC
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
378006532024"Progressive myoclonic ataxia and developmental/epileptic encephalopathy associated with a novel homozygous mutation in TCN2 gene".2
378006532024"Progressive myoclonic ataxia and developmental/epileptic encephalopathy associated with a novel homozygous mutation in TCN2 gene".2
322075952021Relationship between cobalt transporter II gene rs9606756 site mutant and serum homocysteine level and recurrent cerebral infarction in young and middle-aged people.0
338030252021Intracellular and Tissue Levels of Vitamin B12 in Hepatocytes Are Modulated by CD320 Receptor and TCN2 Transporter.3
340275692021Folate metabolizing gene polymorphisms and genetic vulnerability to preterm birth in Korean women.3
322075952021Relationship between cobalt transporter II gene rs9606756 site mutant and serum homocysteine level and recurrent cerebral infarction in young and middle-aged people.0
338030252021Intracellular and Tissue Levels of Vitamin B12 in Hepatocytes Are Modulated by CD320 Receptor and TCN2 Transporter.3
340275692021Folate metabolizing gene polymorphisms and genetic vulnerability to preterm birth in Korean women.3
3249842920203'-UTR Polymorphisms of Vitamin B-Related Genes Are Associated with Osteoporosis and Osteoporotic Vertebral Compression Fractures (OVCFs) in Postmenopausal Women.7
328411612020Transcobalamin II deficiency in twins with a novel variant in the TCN2 gene: case report and review of literature.7
3249842920203'-UTR Polymorphisms of Vitamin B-Related Genes Are Associated with Osteoporosis and Osteoporotic Vertebral Compression Fractures (OVCFs) in Postmenopausal Women.7
328411612020Transcobalamin II deficiency in twins with a novel variant in the TCN2 gene: case report and review of literature.7
311239542019Genetic polymorphisms of the cobalamin transport system are associated with idiopathic recurrent implantation failure.1
316634402019Association between oral cleft and transcobalamin 2 polymorphism in a sample study from Nassiriya, Iraq.2
318152822019Association of single nucleotide polymorphisms of MTHFR, TCN2, RNF213 with susceptibility to hypertension and blood pressure.8

Citation

Dessen P

TCN2 (transcobalamin 2)

Atlas Genet Cytogenet Oncol Haematol. 2010-06-01

Online version: http://atlasgeneticsoncology.org/gene/51539/deep-insight-explorer/meetings/img/logo-atlas-4.svg