Format

Send to:

Choose Destination

TCN2 transcobalamin 2 [ Homo sapiens (human) ]

Gene ID: 6948, updated on 13-Feb-2019

Summary

Official Symbol
TCN2provided by HGNC
Official Full Name
transcobalamin 2provided by HGNC
Primary source
HGNC:HGNC:11653
See related
Ensembl:ENSG00000185339 MIM:613441
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
II; TC; TC2; TC-2; TCII; TC II; D22S676; D22S750
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]
Expression
Broad expression in kidney (RPKM 50.7), gall bladder (RPKM 33.1) and 22 other tissues See more
Orthologs

Genomic context

See TCN2 in Genome Data Viewer
Location:
22q12.2
Exon count:
9
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 22 NC_000022.11 (30607083..30627060)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (31003070..31023047)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene galactose-3-O-sulfotransferase 1 Neighboring gene pescadillo ribosomal biogenesis factor 1 Neighboring gene solute carrier family 35 member E4 Neighboring gene ribosomal protein L13a pseudogene 26 Neighboring gene dual specificity phosphatase 18 Neighboring gene oxysterol binding protein 2 Neighboring gene microRNA 3200

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Transcobalamin II deficiency
MedGen: C0342701 OMIM: 275350 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
A genome-wide association study identifies susceptibility loci for Wilms tumor.
NHGRI GWA Catalog

Pathways from BioSystems

  • Cobalamin (Cbl, vitamin B12) transport and metabolism, organism-specific biosystem (from REACTOME)
    Cobalamin (Cbl, vitamin B12) transport and metabolism, organism-specific biosystemVitamin B12 (cobalamin, Cbl) is a water-soluble vitamin with a key role in blood formation and normal functioning of the brain and nervous system. Cbl consists of a planar corrin ring coordinating wi...
  • Defective CD320 causes methylmalonic aciduria, organism-specific biosystem (from REACTOME)
    Defective CD320 causes methylmalonic aciduria, organism-specific biosystemDefects in CD320 cause methylmalonic aciduria type TCblR (MMATC aka methylmalonic aciduria; MIM:613646) resulting in elevated methylmalonic acid (MMA) and homocysteine (HCYS) in newborns (Quadros et ...
  • Defective TCN2 causes hereditary megaloblastic anemia, organism-specific biosystem (from REACTOME)
    Defective TCN2 causes hereditary megaloblastic anemia, organism-specific biosystemDefective transcobalamin II (produced by the TCN2 gene) results in TCN2 deficiency (MIM:275350), an autosomal recessive disorder with early-onset in infancy characterized by failure to thrive, megalo...
  • Defects in cobalamin (B12) metabolism, organism-specific biosystem (from REACTOME)
    Defects in cobalamin (B12) metabolism, organism-specific biosystemCobalamin (Cbl, vitamin B12) is a nutrient essential for normal functioning of the brain and nervous system and for the formation of blood. Cbl-dependent methionine synthase (MTR) is required for con...
  • Defects in vitamin and cofactor metabolism, organism-specific biosystem (from REACTOME)
    Defects in vitamin and cofactor metabolism, organism-specific biosystemVitamins are essential nutrients, required in small amounts from the diet for the normal growth and development of a multicellular organism. Where there is vitamin deficiency, either by poor diet or ...
  • Disease, organism-specific biosystem (from REACTOME)
    Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
  • Diseases of metabolism, organism-specific biosystem (from REACTOME)
    Diseases of metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of vitamins and cofactors, organism-specific biosystem (from REACTOME)
    Metabolism of vitamins and cofactors, organism-specific biosystemVitamins are a diverse group of organic compounds, classified according to their solubility, either fat-soluble or water-soluble, that are either not synthesized or synthesized only in limited amount...
  • Metabolism of water-soluble vitamins and cofactors, organism-specific biosystem (from REACTOME)
    Metabolism of water-soluble vitamins and cofactors, organism-specific biosystemVitamins are a diverse group of organic compounds, required in small amounts in the diet. They have distinct biochemical roles, often as coenzymes, and are either not synthesized or synthesized only ...
  • One Carbon Metabolism, organism-specific biosystem (from WikiPathways)
    One Carbon Metabolism, organism-specific biosystemThis one-carbon metabolism pathway is centered around folate. Folate has two key carbon-carbon double bonds. Saturating one of them yields dihydrofolate (DHF) and adding an additional molecule of hyd...
  • Vitamin B12 Metabolism, organism-specific biosystem (from WikiPathways)
    Vitamin B12 Metabolism, organism-specific biosystem
    Vitamin B12 Metabolism
  • Vitamin digestion and absorption, organism-specific biosystem (from KEGG)
    Vitamin digestion and absorption, organism-specific biosystemVitamins are a diverse and chemically unrelated group of organic substances that share a common feature of being essential for normal health and well-being. They catalyze numerous biochemical reactio...
  • Vitamin digestion and absorption, conserved biosystem (from KEGG)
    Vitamin digestion and absorption, conserved biosystemVitamins are a diverse and chemically unrelated group of organic substances that share a common feature of being essential for normal health and well-being. They catalyze numerous biochemical reactio...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cobalamin binding IDA
Inferred from Direct Assay
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cobalamin metabolic process TAS
Traceable Author Statement
more info
 
cobalamin transport IDA
Inferred from Direct Assay
more info
PubMed 
cobalt ion transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
endosome TAS
Traceable Author Statement
more info
 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
lysosomal lumen TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
transcobalamin-2
Names
macrocytic anemia
transcobalamin II
transcobalamin II; macrocytic anemia
vitamin B12-binding protein 2

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_007263.1 RefSeqGene

    Range
    4910..24887
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_116

mRNA and Protein(s)

  1. NM_000355.3NP_000346.2  transcobalamin-2 isoform 1 precursor

    See identical proteins and their annotated locations for NP_000346.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AC005006, BC001176
    Consensus CDS
    CCDS13881.1
    UniProtKB/Swiss-Prot
    P20062
    Related
    ENSP00000215838.3, ENST00000215838.7
    Conserved Domains (2) summary
    pfam01122
    Location:19316
    Cobalamin_bind; Eukaryotic cobalamin-binding protein
    pfam14478
    Location:353426
    DUF4430; Domain of unknown function (DUF4430)
  2. NM_001184726.1NP_001171655.1  transcobalamin-2 isoform 2 precursor

    See identical proteins and their annotated locations for NP_001171655.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
    Source sequence(s)
    AC005006, BC011239
    Consensus CDS
    CCDS54519.1
    UniProtKB/Swiss-Prot
    P20062
    Related
    ENSP00000384914.3, ENST00000407817.3
    Conserved Domains (2) summary
    pfam01122
    Location:19297
    Cobalamin_bind; Eukaryotic cobalamin-binding protein
    pfam14478
    Location:326399
    DUF4430; Domain of unknown function (DUF4430)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p12 Primary Assembly

    Range
    30607083..30627060
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001190420.1: Suppressed sequence

    Description
    NM_001190420.1: This RefSeq was permanently suppressed because the splice pattern is likely only found in rare individuals with a polymorphic splice site (rs9606756).
Support Center