TCN2
entrez
6948
canonical
uniprot
P20062
canonical
ensembl
ENSG00000185339
resolver
ensp
ENSP00000215838
resolver
ensp
ENSP00000384914
resolver
genesymbol
TCN2
resolver
genesymbol_syn
TC2
resolver
hgnc
HGNC:11653
resolver
uniprot
Q96FD4
resolver
uniprot
Q9BVI8
resolver
uniprot
Q9UCI5
resolver
uniprot
Q9UCI6
resolver
uniprot
Q9UDM0
resolver
uniprot_entry
TCO2_HUMAN
resolver
uniprot_sec
Q96FD4
resolver
uniprot_sec
Q9BVI8
resolver
uniprot_sec
Q9UCI5
resolver
uniprot_sec
Q9UCI6
resolver
uniprot_sec
Q9UDM0
resolver
amino_acid_sequence
MRHLGAFLFLLGVLGALTEMCEIPEMDSHLVEKLGQHLLPWMDRLSLEHLNPSIYVGLRLSSLQAGTKEDLYLHSLKLGYQQCLLGSAFSEDDGDCQGKPSMGQLALYLLALRANCEFVRGHKGDRLVSQLKWFLEDEKRAIGHDHKGHPHTSYYQYGLGILALCLHQKRVHDSVVDKLLYAVEPFHQGHHSVDTAAMAGLAFTCLKRSNFNPGRRQRITMAIRTVREEILKAQTPEGHFGNVYSTPLALQFLMTSPMRGAELGTACLKARVALLASLQDGAFQNALMISQLLPVLNHKTYIDLIFPDCLAPRVMLEPAAETIPQTQEIISVTLQVLSLLPPYRQSISVLAGSTVEDVLKKAHELGGFTYETQASLSGPYLTSVMGKAAGEREFWQLLRDPNTPLLQGIADYRPKDGETIELRLVSW
uniprot
proteins
disease_involvement
DISEASE: Transcobalamin II deficiency (TCN2D) [MIM:275350]: An autosomal recessive disorder manifesting in early infancy and characterized by failure to thrive, megaloblastic anemia, pancytopenia, and agammaglobulinemia. Additional features include methylmalonic aciduria, recurrent infections, vomiting and diarrhea. TCN2D may be accompanied by neurological complications, including psychomotor and mental developmental delay, if untreated. {ECO:0000269|PubMed:14632784, ECO:0000269|PubMed:19373259, ECO:0000269|PubMed:32841161, ECO:0000269|PubMed:33023511}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Primary vitamin B12-binding and transport protein. Delivers cobalamin to cells. {ECO:0000269|PubMed:8443384}.
uniprot
proteins
mass_dalton
47535
uniprot
proteins
protein_family
Eukaryotic cobalamin transport proteins family
uniprot
proteins
pubmed
10591208
uniprot
proteins
pubmed
11159542
uniprot
proteins
pubmed
14632784
uniprot
proteins
pubmed
15461802
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16537422
uniprot
proteins
pubmed
1708393
uniprot
proteins
pubmed
19373259
uniprot
proteins
pubmed
27411955
uniprot
proteins
pubmed
32841161
uniprot
proteins
pubmed
33023511
uniprot
proteins
pubmed
3782074
uniprot
proteins
pubmed
7742531
uniprot
proteins
pubmed
8439564
uniprot
proteins
pubmed
8443384
uniprot
proteins
sequence_length
427
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:3782074, ECO:0000269|PubMed:8443384}.
uniprot
proteins