TCN1 (transcobalamin 1)

2012-06-01 Affiliation

Identity

HGNC

TCN1

LOCATION

11q12.1

LOCUSID

6947

ALIAS

HC,TC-1,TC1,TCI

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 6947
MIM: 189905
HGNC: 11652
Ensembl: ENSG00000134827

Variants:

dbSNP: 6947
ClinVar: 6947
TCGA: ENSG00000134827
COSMIC: TCN1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000134827	ENST00000257264	P20061

Expression (GTEx)

500

1000

1500

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

Pathway	Source	External ID
Immune System	REACTOME	R-HSA-168256
Innate Immune System	REACTOME	R-HSA-168249
Metabolism	REACTOME	R-HSA-1430728
Metabolism of vitamins and cofactors	REACTOME	R-HSA-196854
Metabolism of water-soluble vitamins and cofactors	REACTOME	R-HSA-196849
Cobalamin (Cbl, vitamin B12) transport and metabolism	REACTOME	R-HSA-196741
Neutrophil degranulation	REACTOME	R-HSA-6798695

References

Pubmed ID	Year	Title	Citations
19913121	2009	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	85
16470748	2006	Study 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
15941899	2005	Transcobalamin 776C->G polymorphism negatively affects vitamin B-12 metabolism.	22
17891500	2007	One-carbon metabolism gene polymorphisms and risk of non-Hodgkin lymphoma in Australia.	20
11788601	2002	Comparative analysis of cobalamin binding kinetics and ligand protection for intrinsic factor, transcobalamin, and haptocorrin.	16
17487979	2007	Mechanisms of discrimination between cobalamins and their natural analogues during their binding to the specific B12-transporting proteins.	13
18830263	2009	Polymorphisms in DNA repair and one-carbon metabolism genes and overall survival in diffuse large B-cell lymphoma and follicular lymphoma.	13
19948975	2009	Integrative predictive model of coronary artery calcification in atherosclerosis.	13
12194912	2002	Polymorphisms in the transcobalamin gene: association with plasma homocysteine in healthy individuals and vascular disease patients.	12
15201366	2004	Association of IL-1 RN*2 allele and methionine synthase 2756 AA genotype with dementia severity of sporadic Alzheimer's disease.	11

Citation

Dessen P

TCN1 (transcobalamin 1)

Atlas Genet Cytogenet Oncol Haematol. 2012-06-01

Online version: http://atlasgeneticsoncology.org/gene/52729/tcn1