CD320 CD320 molecule [Homo sapiens (human)] - Gene

Summary

Official Symbol: CD320provided by HGNC
Official Full Name: CD320 moleculeprovided by HGNC
Primary source: HGNC:HGNC:16692
See related: Ensembl:ENSG00000167775 MIM:606475; AllianceGenome:HGNC:16692
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: 8D6; 8D6A; TCBLR; TCN2R; TCII-R; sCD320
Summary: This gene encodes the transcobalamin receptor that is expressed at the cell surface. It mediates the cellular uptake of transcobalamin bound cobalamin (vitamin B12), and is involved in B-cell proliferation and immunoglobulin secretion. Mutations in this gene are associated with methylmalonic aciduria. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2011]
Expression: Ubiquitous expression in spleen (RPKM 26.7), colon (RPKM 20.1) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19p13.2

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (8302127..8308358, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (8288656..8294880, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (8367011..8373242, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

Transcobalamin receptor gene polymorphisms and mutation in an elderly population.
Title: Transcobalamin receptor gene polymorphisms and mutation in an elderly population.
Probing the functional consequence and clinical relevance of CD320 p.E88del, a variant in the transcobalamin receptor gene.
Title: Probing the functional consequence and clinical relevance of CD320 p.E88del, a variant in the transcobalamin receptor gene.
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.
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.
Cellular uptake of vitamin B12: Role and fate of TCblR/CD320, the transcobalamin receptor.
Title: Cellular uptake of vitamin B(12): Role and fate of TCblR/CD320, the transcobalamin receptor.
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.
A known pathogenic CD320 variant (c.262_264GAG; p.Glu88del) in methylmalonic aciduria cases.
Title: Transcobalamin receptor defect: Identification of two new cases through positive newborn screening for propionic/methylmalonic aciduria and long-term outcome.
It has been proposed that the transcobalamin 2 receptor (TCN2R) is associated with idiopathic recurrent spontaneous abortion (RSA). The findings showed no significant association between TCN2R rs2336573 polymorphisms and the risk/protection of recurrent spontaneous abortion.
Title: Evaluation of transcobalamin II rs1801198 and transcobalamin II receptor rs2336573 gene polymorphisms in recurrent spontaneous abortion.
the crystal structure of human holo-transcobalamin (TC) in complex with the extracellular domain of CD320, visualizing the structural basis of the TC-CD320 interaction, is reported.
Title: Structural basis of transcobalamin recognition by human CD320 receptor.
There was no significant difference in the expression of soluble csf CD320 between patients and controls.
Title: The soluble transcobalamin receptor (sCD320) in relation to Alzheimer's disease and cognitive scores.

Submit: New GeneRIF Correction See all GeneRIFs (23)

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
Methylmalonic acidemia due to transcobalamin receptor defect MedGen: C4749905 OMIM: 613646 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
HIV-1 infection (VSV-G pseudotyped) of CEMT4 T cells downregulates plasma membrane expression of CD320	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Nef	nef	The yeast two-hybrid screen identifies the HIV-1 Nef interacting human protein CD320 (TCBLR), which co-localizes with Nef mainly at the perinuclear region	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium ion binding	IDA Inferred from Direct Assay more info	PubMed
enables cargo receptor activity	EXP Inferred from Experiment more info	PubMed
enables cobalamin binding	IDA Inferred from Direct Assay more info	PubMed
enables growth factor activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in B cell costimulation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cobalamin transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cobalamin transport	TAS Traceable Author Statement more info
involved_in positive regulation of B cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of vitamin metabolic process	IEA Inferred from Electronic Annotation more info
involved_in signal transduction	IEA Inferred from Electronic Annotation more info
involved_in ventral spinal cord development	IBA Inferred from Biological aspect of Ancestor more info
involved_in vesicle-mediated transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in caveola	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info
located_in membrane	HDA more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: CD320 antigen

Names: 8D6 antigen; FDC-SM-8D6; FDC-signaling molecule 8D6; soluble CD320; transcobalamin 2 receptor; transcobalamin receptor

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_028124.2 RefSeqGene

Range

5000..11231

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001165895.2 → NP_001159367.1 CD320 antigen isoform 2 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an in-frame coding exon compared to variant 1, resulting in a shorter isoform (2) missing an internal protein segment compared to isoform 1.

Source sequence(s)

AC010323

Consensus CDS

CCDS54210.1

UniProtKB/Swiss-Prot

Q9NPF0

Related

ENSP00000437697.1, ENST00000537716.6

Conserved Domains (1) summary

cd00112
Location:90 → 125

LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
NM_016579.4 → NP_057663.1 CD320 antigen isoform 1 precursor

See identical proteins and their annotated locations for NP_057663.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AC010323

Consensus CDS

CCDS12198.1

UniProtKB/Swiss-Prot

B2RDS5, D6W668, F5H6D3, Q53HF7, Q9NPF0

Related

ENSP00000301458.4, ENST00000301458.10

Conserved Domains (1) summary

cd00112
Location:54 → 89

LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...