TCN2 - transcobalamin 2 Gene
Also Known as II; TC; TC2; TC-2; TCII; TC II; D22S676; D22S750
Species: Homo sapiens
About TCN2
This gene has 18 transcripts (splice variants), 197 orthologues, 2 paralogues and is associated with 3 phenotypes. Broad expression in kidney (RPKM 50.7), gall bladder (RPKM 33.1) and 22 other tissues.
Summary
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.[provided by RefSeq, May 2010]
TCN2 Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_000355.4 | NP_000346.2 | transcobalamin-2 isoform 1 precursor |
| NM_001184726.2 | NP_001171655.1 | transcobalamin-2 isoform 2 precursor |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables cargo receptor ligand activity |
EXP
EXP: Inferred from Experiment
|
3782074 | GOA |
| enables cobalamin binding |
IDA
IDA: Inferred from direct assay
|
8443384 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
27411955 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in cobalamin transport |
IDA
IDA: Inferred from direct assay
|
8443384 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in extracellular space |
IDA
IDA: Inferred from direct assay
|
8443384 | GOA |
TCN2 Protein Structure
Cobalamin_bind: Eukaryotic cobalamin-binding protein (1 - 326)
DUF4430: Domain of unknown function (DUF4430) (352 - 422)
- 0
- 100
- 200
- 300
- 400
- 427 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
transcobalamin-2 |
|
TCN2 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
TCN2 | P20062 | CD320 | Homo sapiens | Q9NPF0 | 27411955 | |
|
Intra
|
TCN2 | P20062 | CD320 | Homo sapiens | Q9NPF0 | 27411955 | |
|
Intra
|
TCN2 | P20062 | CD320 | Homo sapiens | Q9NPF0 | 27411955 | |
|
Intra
|
TCN2 | P20062 | CD320 | Homo sapiens | Q9NPF0 | 27411955 | |
|
Intra
|
TCN2 | P20062 | CD320 | Homo sapiens | Q9NPF0 | 27411955 |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Transcobalamin Ii Deficiency |
|
|
| Pancytopenia |
|
|
| Vitamin B12 Deficiency |
|
|
| Homocystinuria |
|
|
| Megaloblastic Anemia |
|
|
| Vitamin Metabolic Disorder |
|
|
| Methylmalonic Acidemia |
|
|
| Macrocytic Anemia |
|
|
| Megaesophagus |
|
|
| Neural Tube Defects |
|
|
| Epidemic Typhus |
|
|
| Malaria |
|
|
| Mobitz Type Ii Atrioventricular Block |
|
|
| Scrub Typhus |
|
|
| Anal Gland Adenocarcinoma |
|
|
| Fasciolopsiasis |
|
|
| Pernicious Anemia |
|
|
| Typhoid Fever |
|
|
| Anus Adenocarcinoma |
|
|
| Cerebrovascular Disease |
|
|
| Septal Myocardial Infarction |
|
|
| Colon Adenocarcinoma |
|
|
| Parasitic Protozoa Infectious Disease |
|
|
| Trypanosomiasis |
|
|
| Toxocariasis |
|
|
| Rapp-Hodgkin Syndrome |
|
|
| Glossitis |
|
|
| Spleen Angiosarcoma |
|
|
| Megacolon |
|
|
| Deficiency Anemia |
|
|
| Autism Spectrum Disorder |
|
|
| Thrombocytopenia |
|
|
| Autism |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Felis catus | TCN2 | VGNC | VGNC:66033 |
| Canis familiaris | TCN2 | VGNC | VGNC:47205 |
| Rattus norvegicus | TCN2 | RGD | RGD:620681 |
| Mus musculus | TCN2 | MGD | MGI:98534 |
| Bos taurus | TCN2 | VGNC | VGNC:35699 |
| Macaca mulatta | TCN2 | VGNC | VGNC:78293 |
| Others | TCN2 | NCBI |