full name
transcobalamin 2

synonyms
D22S676, D22S750, II, TC, TCN2, ENSG00000185339

HGNC
HGNC:11653

Entrez Gene
Gene:6948

ENSEMBL
ENSG00000185339

location
chr: 22
start: 31003070
stop: 31023047
strand: +

OMIM
OMIM:613441: TCN2 (Autosomal recessive inheritance)
OMIM:275350: Transcobalamin II deficiency

transcripts
NM_000355.3
NM_001184726.1

pathways
Cobalamin (Cbl, vitamin B12) transport and metabolism [NCBI:1270152] [REACTOME:R-HSA-196741] [PUBMED:21312325] [PUBMED:10448521] [PUBMED:20185591] [PUBMED:19832808]
Defective CD320 causes methylmalonic aciduria [NCBI:1268973] [REACTOME:R-HSA-3359485] [PUBMED:20524213]
Defective TCN2 causes hereditary megaloblastic anemia [NCBI:1268963] [REACTOME:R-HSA-3359454] [PUBMED:19373259]
Defects in cobalamin (B12) metabolism [NCBI:1268960] [REACTOME:R-HSA-3296469] [PUBMED:21312325] [PUBMED:16846473] [PUBMED:9587028] [PUBMED:21114891] [PUBMED:22547309]
Defects in vitamin and cofactor metabolism [NCBI:1268959] [REACTOME:R-HSA-3296482]
Disease [NCBI:1268854] [REACTOME:R-HSA-1643685]
Diseases of metabolism [NCBI:1268939] [REACTOME:R-HSA-5668914]
Metabolism [NCBI:1269956] [REACTOME:R-HSA-1430728]
Metabolism of vitamins and cofactors [NCBI:1270144] [REACTOME:R-HSA-196854]
Metabolism of water-soluble vitamins and cofactors [NCBI:1270145] [REACTOME:R-HSA-196849]
Vitamin digestion and absorption [NCBI:199556] [KEGG:hsa04977] [PUBMED:19173758] [PUBMED:16206251] [PUBMED:14977409] [PUBMED:14642860] [PUBMED:16688755] [PUBMED:19056639] [PUBMED:18841274] [PUBMED:20185591] [PUBMED:16462170] [PUBMED:20724488] [PUBMED:11340090] [PUBMED:11984580] [PUBMED:20166147]