Transcobalamin II deficiency

Gene Information

Names

HUGO name: TCN2

Alias(es):

  • D22S676
  • D22S750
  • TC2
  • Transcobalamin II precursor

Localization

Reference sequences

Chromosomal location

Maps

Markers

Protein Information

Description

Protein function:

Primary vitamin B12-binding and transport protein. Delivers cobalamin to cells.

Subcellular location:

Secreted

Polymorphism:

Pro/arg-259 polymorphism affects tcn2 plasma concentration and may interfere in vitamin B(12) cellular availability and homocysteine metabolism.

Similarity:

Belongs to the eukaryotic cobalamin transport proteins family.

Other features

Signal peptide: 1-18

    Transcobalamin ii: 19-427

      Disulfide bond: 21-267

        Disulfide bond: 116-309

          Disulfide bond: 165-205

            Other related resourses:

            Expression

            Expression pattern for human

            Tissue Expression (%) Clones
            spleen 14.56 2:12346
            bone_Marrow 12.24 4:29369
            blood 9.76 5:46017
            pancreas 7.98 6:67592
            mixed 7.15 25:314320
            colon 6.55 6:82275
            eye 5.57 8:128990
            ovary 5.02 4:71634
            brain 4.78 17:319574
            kidney 3.94 5:113979