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    TCN2 transcobalamin 2 [ Homo sapiens (human) ]

    Gene ID: 6948, updated on 17-Jun-2024

    Summary

    Official Symbol
    TCN2provided by HGNC
    Official Full Name
    transcobalamin 2provided by HGNC
    Primary source
    HGNC:HGNC:11653
    See related
    Ensembl:ENSG00000185339 MIM:613441; AllianceGenome:HGNC:11653
    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
    NEW
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    Genomic context

    See TCN2 in Genome Data Viewer
    Location:
    22q12.2
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (30607174..30627271)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (31070745..31090856)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (31003161..31023258)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene MPRA-validated peak4480 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:30967053-30967554 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:30969210-30969891 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:30969892-30970572 Neighboring gene galactose-3-O-sulfotransferase 1 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr22:30982632-30983831 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:30987725-30988440 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18840 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:31002947-31003526 Neighboring gene Sharpr-MPRA regulatory region 4664 Neighboring gene pescadillo ribosomal biogenesis factor 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:31030490-31031194 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13614 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:31042177-31042759 Neighboring gene solute carrier family 35 member E4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18842 Neighboring gene ribosomal protein L13a pseudogene 26 Neighboring gene dual specificity phosphatase 18 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13615 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13616 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:31112835-31114034 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
    Transcobalamin II deficiency
    MedGen: C0342701 OMIM: 275350 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    A genome-wide association study identifies susceptibility loci for Wilms tumor.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cargo receptor ligand activity EXP
    Inferred from Experiment
    more info
    PubMed 
    enables cobalamin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables cobalamin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cobalamin transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cobalamin transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cobalamin transport TAS
    Traceable Author Statement
    more info
     
    involved_in cobalt ion transport IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in external side of plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in lysosomal lumen TAS
    Traceable Author Statement
    more info
     
    located_in plasma membrane 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)

    NEW Try the new Transcript table

    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, Q96FD4, Q9BVI8, Q9UCI5, Q9UCI6, Q9UDM0
      UniProtKB/TrEMBL
      A0A8V8TLM2, A0A8V8TN28
      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/TrEMBL
      A0A8V8TLM2, A0A8V8TN28
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      30607174..30627271
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      31070745..31090856
      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).