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TCN2 transcobalamin 2 [ Homo sapiens (human) ]

Gene ID: 6948, updated on 24-Nov-2020

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
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Genomic context

See TCN2 in Genome Data Viewer
Location:
22q12.2
Exon count:
9
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (30607174..30627271)
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 Sharpr-MPRA regulatory region 4664 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 Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A genome-wide association study identifies susceptibility loci for Wilms tumor.
GeneReviews: Not available
Transcolabamin II deficiency
MedGen: C0342701 OMIM: 275350 GeneReviews: Not available
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Pathways from PubChem

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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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)

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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_000355.4NP_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, ENST00000215838.8
    Conserved Domains (2) summary
    pfam01122
    Location:19316
    Cobalamin_bind; Eukaryotic cobalamin-binding protein
    pfam14478
    Location:353426
    DUF4430; Domain of unknown function (DUF4430)
  2. NM_001184726.2NP_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 Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

    Range
    30607174..30627271
    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).
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