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FLASH GENE

Symbol

TCN2

contributors: mct/npt - updated : 22-02-2010

HGNC name	transcobalamin II; macrocytic anemia
HGNC id	11653

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	TCN2 transcobalamin II deficiency
Location	22q12.2      Physical location : 31.003.069 - 31.023.047
Synonym symbol(s)	TC2, D22S676, D22S750

DNA

TYPE	functioning gene
STRUCTURE	19.89 kb     9 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

Y

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000355 9 - 1987 - 427 - Regec (1995)

EXPRESSION

Type

widely

constitutive of

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol blood / hematopoietic spleen       highly Endocrine adrenal gland       highly   pancreas         Reproductive female system placenta     highly Respiratory lung         Urinary kidney

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic bone marrow     highly Epithelial secretory glandular endocrine   Epithelial secretory glandular exocrine

cell lineage
cell lines
fluid/secretion	plasma

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

interspecies	ortholog to murine Tcn2
	homolog to C.elegans K07D4.6

Homologene

FAMILY	vitamin B12-binding protein family
	eukaryotic cobalamin transport proteins family

CATEGORY

transport carrier

SUBCELLULAR LOCALIZATION	extracellular
text	secreted

basic FUNCTION	mediating the transport of cobalamin into cells
	involved in uptake of vitamin B12 and cobalamin
	plasma transport protein for cobalamin, that facilitates cellular uptake of cobalamin through receptor-mediated endocytosis of the Transcobalamin -cobalamin complex in peripheral tissues (Ratschmann 2009)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

text	vitamin B12 transporter
	cobalt ion transport

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

binding to cobalamin (optimal binding of cobalamin by TCN2 is supported by disulfide bonds C98-C291 and C147-C187 and that their disruption results in loss of cobalamin binding and their rapid degradation by the proteasomal machinery)

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

TCN2

Susceptibility

to lower vitamin B12

Variant & Polymorphism other	776G allele decreasing the transcription and cellular and plasma concentration of transcobalamin (vitamin B12)

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS