• Gene id: 6948

Gene Summary

• Gene Symbol: TCN2   Gene   UCSC   Ensembl
• Aliases: D22S676, D22S750, II, TC, TC II, TC-2, TC2, TCII
• Gene name: transcobalamin 2
• Alternate names: transcobalamin-2, macrocytic anemia, transcobalamin II, transcobalamin II; macrocytic anemia, vitamin B12-binding protein 2,
• Gene location: 22q12.2 (30607082: 30627270)     Exons: 9     NC_000022.11
• Gene summary(Entrez): 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 cobala
• OMIM: 603866

Protein Summary

• Protein general information: P20062  
  • Name: Transcobalamin 2 (TC 2) (Transcobalamin II) (TC II) (TCII)
  • Length: 427  
  • Mass: 47535
• Sequence:

  MRHLGAFLFLLGVLGALTEMCEIPEMDSHLVEKLGQHLLPWMDRLSLEHLNPSIYVGLRLSSLQAGTKEDLYLHS
  LKLGYQQCLLGSAFSEDDGDCQGKPSMGQLALYLLALRANCEFVRGHKGDRLVSQLKWFLEDEKRAIGHDHKGHP
  HTSYYQYGLGILALCLHQKRVHDSVVDKLLYAVEPFHQGHHSVDTAAMAGLAFTCLKRSNFNPGRRQRITMAIRT
  VREEILKAQTPEGHFGNVYSTPLALQFLMTSPMRGAELGTACLKARVALLASLQDGAFQNALMISQLLPVLNHKT
  YIDLIFPDCLAPRVMLEPAAETIPQTQEIISVTLQVLSLLPPYRQSISVLAGSTVEDVLKKAHELGGFTYETQAS
  LSGPYLTSVMGKAAGEREFWQLLRDPNTPLLQGIADYRPKDGETIELRLVSW

• Structural information:
  • Interpro: IPR002157  IPR027954  IPR008930  
  • Prosite: PS00468
  • PDB: 2BB5 4ZRP 4ZRQ 5NO0 5NP4 5NRP 5NSA
  • PDBsum: 2BB5 4ZRP 4ZRQ 5NO0 5NP4 5NRP 5NSA
  • STRING: ENSP00000215838
• Other Databases: GeneCards:  TCN2  Malacards:  TCN2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0015889	cobalamin transport	IBA	biological process
GO:0005615	extracellular space	IBA	cellular component
GO:0031419	cobalamin binding	IBA	molecular function
GO:0031419	cobalamin binding	IDA	molecular function
GO:0015889	cobalamin transport	IDA	biological process
GO:0005615	extracellular space	IDA	cellular component
GO:0031419	cobalamin binding	IDA	molecular function
GO:0031419	cobalamin binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0015889	cobalamin transport	IEA	biological process
GO:0031419	cobalamin binding	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0006824	cobalt ion transport	IEA	biological process
GO:0006811	ion transport	IEA	biological process
GO:0005615	extracellular space	TAS	cellular component
GO:0015889	cobalamin transport	TAS	biological process
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005768	endosome	TAS	cellular component
GO:0005768	endosome	TAS	cellular component
GO:0005768	endosome	TAS	cellular component
GO:0009235	cobalamin metabolic process	TAS	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0015889	cobalamin transport	IBA	biological process
GO:0005615	extracellular space	IBA	cellular component
GO:0031419	cobalamin binding	IBA	molecular function
GO:0031419	cobalamin binding	IDA	molecular function
GO:0015889	cobalamin transport	IDA	biological process
GO:0005615	extracellular space	IDA	cellular component
GO:0031419	cobalamin binding	IDA	molecular function
GO:0031419	cobalamin binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0015889	cobalamin transport	IEA	biological process
GO:0031419	cobalamin binding	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0006824	cobalt ion transport	IEA	biological process
GO:0006811	ion transport	IEA	biological process
GO:0005615	extracellular space	TAS	cellular component
GO:0015889	cobalamin transport	TAS	biological process
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005768	endosome	TAS	cellular component
GO:0005768	endosome	TAS	cellular component
GO:0005768	endosome	TAS	cellular component
GO:0009235	cobalamin metabolic process	TAS	biological process
GO:0005576	extracellular region	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04977	Vitamin digestion and absorption

Diseases

Associated diseases	References
Transcobalamin II deficiency	KEGG:H01190
Transcobalamin II deficiency	KEGG:H01190
Megaloblastic anemia	PMID:7849710
Parkinson's disease	PMID:20027219
Cryoglobulinemia	PMID:3574578
acute myeloid leukemia	PMID:1059479
acute lymphocytic leukemia	PMID:8754152
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881