TCN2 transcobalamin 2 [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

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_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

"Progressive myoclonic ataxia and developmental/epileptic encephalopathy associated with a novel homozygous mutation in TCN2 gene".
Title: "Progressive myoclonic ataxia and developmental/epileptic encephalopathy associated with a novel homozygous mutation in TCN2 gene".
Folate metabolizing gene polymorphisms and genetic vulnerability to preterm birth in Korean women.
Title: Folate metabolizing gene polymorphisms and genetic vulnerability to preterm birth in Korean women.
Transcobalamin II deficiency in twins with a novel variant in the TCN2 gene: case report and review of literature.
Title: Transcobalamin II deficiency in twins with a novel variant in the TCN2 gene: case report and review of literature.
Intracellular and Tissue Levels of Vitamin B12 in Hepatocytes Are Modulated by CD320 Receptor and TCN2 Transporter.
Title: Intracellular and Tissue Levels of Vitamin B12 in Hepatocytes Are Modulated by CD320 Receptor and TCN2 Transporter.
Relationship between cobalt transporter II gene rs9606756 site mutant and serum homocysteine level and recurrent cerebral infarction in young and middle-aged people.
Title: Relationship between cobalt transporter II gene rs9606756 site mutant and serum homocysteine level and recurrent cerebral infarction in young and middle-aged people.
3'-UTR Polymorphisms of Vitamin B-Related Genes Are Associated with Osteoporosis and Osteoporotic Vertebral Compression Fractures (OVCFs) in Postmenopausal Women.
Title: 3'-UTR Polymorphisms of Vitamin B-Related Genes Are Associated with Osteoporosis and Osteoporotic Vertebral Compression Fractures (OVCFs) in Postmenopausal Women.
Association of single nucleotide polymorphisms of MTHFR, TCN2, RNF213 with susceptibility to hypertension and blood pressure.
Title: Association of single nucleotide polymorphisms of MTHFR, TCN2, RNF213 with susceptibility to hypertension and blood pressure.
A decreased risk of cleft for children carrying the 667G allele at TCN2 gene (P = 0.02).
Title: Association between oral cleft and transcobalamin 2 polymorphism in a sample study from Nassiriya, Iraq.
In genotype combination analysis, two combinations containing the TCN2 67 polymorphism AG type were associated with RIF risk. Our study showed that the polymorphisms of TCN2 and TCblR are associated with RIF and are potential genetic predisposing factors for RIF among Korean women.
Title: Genetic polymorphisms of the cobalamin transport system are associated with idiopathic recurrent implantation failure.
12 articles were included in this study. The pooled results did not reveal a significant association of the MTRR A66G polymorphism (G vs. A: OR = 0.99, 95% CI = 0.82-1.18, p = 0.72) with Nonsyndromic Cleft Lip With or Without Cleft Palate risk
Title: Associations Between MTR A2756G, MTRR A66G, and TCN2 C776G Polymorphisms and Risk of Nonsyndromic Cleft Lip With or Without Cleft Palate: A Meta-Analysis.

Submit: New GeneRIF Correction See all GeneRIFs (72)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

TCN2_8668 (e-PCR)
- UniSTS:468736

STS-AA036886 (e-PCR)
- UniSTS:16157

D8S2279 (e-PCR)
- UniSTS:473907

GDB:594872 (e-PCR)
- UniSTS:158003

GDB:594873 (e-PCR)
- UniSTS:158004

GDB:594875 (e-PCR)
- UniSTS:158005

GDB:594882 (e-PCR)
- UniSTS:158006

GDB:594884 (e-PCR)
- UniSTS:158007

GDB:594886 (e-PCR)
- UniSTS:158008

GDB:594889 (e-PCR)
- UniSTS:158009

GDB:594891 (e-PCR)
- UniSTS:158010

RH27837 (e-PCR)
- UniSTS:88662

D22S750 (e-PCR)
- UniSTS:28020

SHGC-12522 (e-PCR)
- UniSTS:45468

STS-L02648 (e-PCR)
- UniSTS:68001

GDB:681759 (e-PCR)
- UniSTS:158633

G18183 (e-PCR)
- UniSTS:43498

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

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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

NG_007263.1 RefSeqGene

Range

4910..24887

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_116

mRNA and Protein(s)

NM_000355.4 → NP_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:19 → 316

Cobalamin_bind; Eukaryotic cobalamin-binding protein

pfam14478
Location:353 → 426

DUF4430; Domain of unknown function (DUF4430)
NM_001184726.2 → NP_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:19 → 297

Cobalamin_bind; Eukaryotic cobalamin-binding protein

pfam14478
Location:326 → 399

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

NC_000022.11 Reference GRCh38.p14 Primary Assembly

Range

30607174..30627271

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

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

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).