CD320 (CD320 molecule)

2013-12-01 Affiliation

Identity

HGNC

CD320

LOCATION

19p13.2

LOCUSID

51293

ALIAS

8D6,8D6A,TCBLR,TCN2R

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: 51293
MIM: 606475
HGNC: 16692
Ensembl: ENSG00000167775

Variants:

dbSNP: 51293
ClinVar: 51293
TCGA: ENSG00000167775
COSMIC: CD320

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000167775	ENST00000301458	Q9NPF0
ENSG00000167775	ENST00000537716	Q9NPF0
ENSG00000167775	ENST00000596002	M0R1C4
ENSG00000167775	ENST00000599573	M0R100

Expression (GTEx)

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
Disease	REACTOME	R-HSA-1643685
Diseases of metabolism	REACTOME	R-HSA-5668914
Defects in vitamin and cofactor metabolism	REACTOME	R-HSA-3296482
Defects in cobalamin (B12) metabolism	REACTOME	R-HSA-3296469
Defective CD320 causes methylmalonic aciduria	REACTOME	R-HSA-3359485
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

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
18779389	2009	The protein and the gene encoding the receptor for the cellular uptake of transcobalamin-bound cobalamin.	39
20524213	2010	Positive newborn screen for methylmalonic aciduria identifies the first mutation in TCblR/CD320, the gene for cellular uptake of transcobalamin-bound vitamin B(12).	19
20577008	2010	Transcobalamin II receptor polymorphisms are associated with increased risk for neural tube defects.	16
20577008	2010	Transcobalamin II receptor polymorphisms are associated with increased risk for neural tube defects.	16
20627121	2010	Characterization of the promoter region of TCblR/CD320 gene, the receptor for cellular uptake of transcobalamin-bound cobalamin.	8
24122983	2013	Immunohistochemical quantification of the vitamin B12 transport protein (TCII), cell surface receptor (TCII-R) and Ki-67 in human tumor xenografts.	7
22116453	2012	Folate and vitamin B12-related genes and risk for omphalocele.	4
24015289	2013	The soluble receptor for vitamin B12 uptake (sCD320) increases during pregnancy and occurs in higher concentration in urine than in serum.	4
23603833	2013	Mapping the functional domains of TCblR/CD320, the receptor for cellular uptake of transcobalamin-bound cobalamin.	3
26205293	2015	The soluble transcobalamin receptor (sCD320) is present in cerebrospinal fluid and correlates to dementia-related biomarkers tau proteins and amyloid-beta.	3

Citation

Dessen P

CD320 (CD320 molecule)

Atlas Genet Cytogenet Oncol Haematol. 2013-12-01

Online version: http://atlasgeneticsoncology.org/gene/53536/cd320