Property Summary

NCBI Gene PubMed Count 23
Grant Count 14
R01 Count 11
Funding $1,168,961.5
PubMed Score 26.13
PubTator Score 24.88

Knowledge Summary

Patent

No data available

Expression

Gene RIF (13)

PMID Text
26205293 The soluble transcobalamin receptor is present in cerebrospinal fluid and correlates to dementia-related biomarkers tau proteins and amyloid-beta.
24750446 Transcobalamin II (TCN2 67A>G and TCN2 776C>G) and transcobalamin II receptor (TCblR 1104C>T) polymorphisms in Korean patients with idiopathic recurrent spontaneous abortion
24122983 Proliferating cancer cells express measurable levels of TCII and TCII-R.
24015289 The high urinary concentration and the strong correlation between urinary and serum sCD320 suggests that sCD320 is filtered in the kidney.
23603833 Data indicate that only the extracellular region (aa 32-229) of TCblR/CD320 is needed for transcobalamin-cobalamin (TC-Cbl) binding.
23284715 The yeast two-hybrid screen identifies the HIV-1 Nef interacting human protein CD320 (TCBLR), which co-localizes with Nef mainly at the perinuclear region
22116453 TCblr SNP were associated with omphalocele suggests that disruption of methylation reactions, in which folate, vitamin B12, and homocysteine play critical parts, may be a risk factor for omphalocele.
20627121 the cell cycle associated expression of TCblR appears to be tightly regulated in synchrony with the proliferative phase of the cell cycle.
20577008 Our data suggest that variation in TCblR plays a role in neural tube defect risk and that these variants may modulate cobalamin metabolism.
20577008 Observational study of gene-disease association. (HuGE Navigator)
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AA Sequence

MSGGWMAQVGAWRTGALGLALLLLLGLGLGLEAAASPLSTPTSAQAAGPSSGSCPPTKFQCRTSGLCVPL      1 - 70
TWRCDRDLDCSDGSDEEECRIEPCTQKGQCPPPPGLPCPCTGVSDCSGGTDKKLRNCSRLACLAGELRCT     71 - 140
LSDDCIPLTWRCDGHPDCPDSSDELGCGTNEILPEGDATTMGPPVTLESVTSLRNATTMGPPVTLESVPS    141 - 210
VGNATSSSAGDQSGSPTAYGVIAAAAVLSASLVTATLLLLSWLRAQERLRPLGLLVAMKESLLLSEQKTS    211 - 280
LP                                                                        281 - 282
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Text Mined References (26)

PMID Year Title
26205293 2015 The soluble transcobalamin receptor (sCD320) is present in cerebrospinal fluid and correlates to dementia-related biomarkers tau proteins and amyloid-beta.
24750446 2014 Transcobalamin II (TCN2 67A>G and TCN2 776C>G) and transcobalamin II receptor (TCblR 1104C>T) polymorphisms in Korean patients with idiopathic recurrent spontaneous abortion.
24122983 2013 Immunohistochemical quantification of the vitamin B12 transport protein (TCII), cell surface receptor (TCII-R) and Ki-67 in human tumor xenografts.
24015289 2013 The soluble receptor for vitamin B12 uptake (sCD320) increases during pregnancy and occurs in higher concentration in urine than in serum.
23603833 2013 Mapping the functional domains of TCblR/CD320, the receptor for cellular uptake of transcobalamin-bound cobalamin.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
22116453 2012 Folate and vitamin B12-related genes and risk for omphalocele.
20627121 2010 Characterization of the promoter region of TCblR/CD320 gene, the receptor for cellular uptake of transcobalamin-bound cobalamin.
20577008 2010 Transcobalamin II receptor polymorphisms are associated with increased risk for neural tube defects.
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).
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