Transcobalamin II

Alternative Names

  • TCN2
  • TC II
  • Vitamin B-12 Binding Protein 2
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OMIM Number

613441

NCBI Gene ID

6948

Uniprot ID

P20062

Length

20,269 bases

No. of Exons

9

No. of isoforms

2

Protein Name

Transcobalamin-2

Molecular Mass

47535 Da

Amino Acid Count

427

Genomic Location

chr22:30,607,003-30,627,271

Gene Map Locus
22q12.2

Description

This gene encodes a member of the vitamin B12-binding protein family. This family of proteins, alternatively referred to as R binders, is expressed in various tissues and secretions. This plasma protein binds cobalamin and mediates the transport of cobalamin into cells. This protein and other mammalian cobalamin-binding proteins, such as transcobalamin I and gastric intrisic factor, may have evolved by duplication of a common ancestral gene. Alternative splicing results in multiple transcript variants. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
TCN2, 2,152-BP DEL AND 4-BP INSLebanon22q11.2-qterPathogenicPathogenicTranscobalamin II DeficiencyTCN2, 2,152-BP DEL AND 4-BP INS99
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