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 be... See more...

Aliases for CD320 Gene

Aliases for CD320 Gene

  • CD320 Molecule 2 3 5
  • CD320 Antigen 2 3 4
  • 8D6 Antigen 2 3 4
  • FDC-Signaling Molecule 8D6 3 4
  • Transcobalamin Receptor 3 4
  • FDC-SM-8D6 3 4
  • 8D6A 3 4
  • Transcobalamin 2 Receptor 3
  • TCBLR 3
  • TCN2R 3
  • TCblR 4
  • 8D6 3

External Ids for CD320 Gene

Previous GeneCards Identifiers for CD320 Gene

  • GC19M008274
  • GC19M008275
  • GC19M008021
  • GC19M008367

Summaries for CD320 Gene

Entrez Gene Summary for CD320 Gene

  • 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]

GeneCards Summary for CD320 Gene

CD320 (CD320 Molecule) is a Protein Coding gene. Diseases associated with CD320 include Methylmalonic Aciduria, Transient, Due To Transcobalamin Receptor Defect and Anal Gland Adenocarcinoma. Among its related pathways are Diseases of metabolism and Metabolism of water-soluble vitamins and cofactors. Gene Ontology (GO) annotations related to this gene include growth factor activity and cobalamin binding. An important paralog of this gene is LDLRAD2.

UniProtKB/Swiss-Prot Summary for CD320 Gene

  • Receptor for transcobalamin saturated with cobalamin (TCbl) (PubMed:18779389). Plays an important role in cobalamin uptake (PubMed:18779389, PubMed:20524213). Plasma membrane protein that is expressed on follicular dendritic cells (FDC) and mediates interaction with germinal center B cells (PubMed:10727470). Functions as costimulator to promote B cell responses to antigenic stimuli; promotes B cell differentiation and proliferation (PubMed:10727470, PubMed:11418631). Germinal center-B (GC-B) cells differentiate into memory B-cells and plasma cells (PC) through interaction with T-cells and follicular dendritic cells (FDC) (PubMed:11418631). CD320 augments the proliferation of PC precursors generated by IL-10 (PubMed:11418631).

Gene Wiki entry for CD320 Gene

Additional gene information for CD320 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CD320 Gene

Genomics for CD320 Gene

GeneHancer (GH) Regulatory Elements for CD320 Gene

Promoters and enhancers for CD320 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CD320 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CD320

Top Transcription factor binding sites by QIAGEN in the CD320 gene promoter:
  • AML1a
  • ATF6
  • Bach1
  • Bach2
  • C/EBPalpha
  • CHOP-10
  • CUTL1
  • GATA-2
  • HEN1
  • RORalpha1

Genomic Locations for CD320 Gene

Genomic Locations for CD320 Gene
chr19:8,302,127-8,308,358
(GRCh38/hg38)
Size:
6,232 bases
Orientation:
Minus strand
chr19:8,367,011-8,373,240
(GRCh37/hg19)
Size:
6,230 bases
Orientation:
Minus strand

Genomic View for CD320 Gene

Genes around CD320 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CD320 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CD320 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CD320 Gene

Proteins for CD320 Gene

  • Protein details for CD320 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NPF0-CD320_HUMAN
    Recommended name:
    CD320 antigen
    Protein Accession:
    Q9NPF0
    Secondary Accessions:
    • B2RDS5
    • D6W668
    • F5H6D3
    • Q53HF7

    Protein attributes for CD320 Gene

    Size:
    282 amino acids
    Molecular mass:
    28991 Da
    Quaternary structure:
    • Interacts (via LDL-receptor class A domains) with TCN2 (PubMed:27411955).

    Three dimensional structures from OCA and Proteopedia for CD320 Gene

    Alternative splice isoforms for CD320 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CD320 Gene

Post-translational modifications for CD320 Gene

  • Glycosylation at Asn126, Asn195, and Asn213
  • Ubiquitination at Lys269 and Lys278
  • Modification sites at PhosphoSitePlus

Other Protein References for CD320 Gene

No data available for DME Specific Peptides for CD320 Gene

Domains & Families for CD320 Gene

Gene Families for CD320 Gene

HGNC:
Human Protein Atlas (HPA):
  • CD markers
  • Disease related genes
  • Predicted membrane proteins

Protein Domains for CD320 Gene

Blocks:
  • Low density lipoprotein-receptor, class A
  • 4-disulphide core signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CD320 Gene

GenScript: Design optimal peptide antigens:
  • Transcobalamin receptor (CD320_HUMAN)
genes like me logo Genes that share domains with CD320: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for CD320 Gene

Function for CD320 Gene

Molecular function for CD320 Gene

UniProtKB/Swiss-Prot Function:
Receptor for transcobalamin saturated with cobalamin (TCbl) (PubMed:18779389). Plays an important role in cobalamin uptake (PubMed:18779389, PubMed:20524213). Plasma membrane protein that is expressed on follicular dendritic cells (FDC) and mediates interaction with germinal center B cells (PubMed:10727470). Functions as costimulator to promote B cell responses to antigenic stimuli; promotes B cell differentiation and proliferation (PubMed:10727470, PubMed:11418631). Germinal center-B (GC-B) cells differentiate into memory B-cells and plasma cells (PC) through interaction with T-cells and follicular dendritic cells (FDC) (PubMed:11418631). CD320 augments the proliferation of PC precursors generated by IL-10 (PubMed:11418631).

Phenotypes From GWAS Catalog for CD320 Gene

Gene Ontology (GO) - Molecular Function for CD320 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IDA 27411955
GO:0005515 protein binding IPI,IEA 27411955
GO:0008083 growth factor activity IEA --
GO:0015420 cobalamin-transporting ATPase activity TAS --
GO:0031419 cobalamin binding IDA 18779389
genes like me logo Genes that share ontologies with CD320: view
genes like me logo Genes that share phenotypes with CD320: view

Human Phenotype Ontology for CD320 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for CD320

CRISPR Products

miRNA for CD320 Gene

miRTarBase miRNAs that target CD320

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for CD320 Gene

Localization for CD320 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CD320 Gene

Cell membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CD320 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 4
endosome 4
extracellular 1
cytoskeleton 1
mitochondrion 1
nucleus 1
cytosol 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CD320 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IDA --
GO:0005886 plasma membrane TAS,IDA --
GO:0005887 integral component of plasma membrane IDA 10727470
GO:0010008 endosome membrane TAS --
GO:0016020 membrane HDA,IEA 19946888
genes like me logo Genes that share ontologies with CD320: view

Pathways & Interactions for CD320 Gene

genes like me logo Genes that share pathways with CD320: view

Gene Ontology (GO) - Biological Process for CD320 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction IEA --
GO:0009235 cobalamin metabolic process TAS --
GO:0015889 cobalamin transport IMP 18779389
GO:0030656 regulation of vitamin metabolic process IEA --
GO:0030890 positive regulation of B cell proliferation IMP 10727470
genes like me logo Genes that share ontologies with CD320: view

No data available for SIGNOR curated interactions for CD320 Gene

Drugs & Compounds for CD320 Gene

(1) Drugs for CD320 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cobalamin Experimental Pharma 410
genes like me logo Genes that share compounds with CD320: view

Transcripts for CD320 Gene

mRNA/cDNA for CD320 Gene

2 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CD320 Gene

No ASD Table

Relevant External Links for CD320 Gene

GeneLoc Exon Structure for
CD320

Expression for CD320 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CD320 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CD320 Gene

This gene is overexpressed in Urine (61.2) and Placenta (7.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CD320 Gene



Protein tissue co-expression partners for CD320 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CD320

SOURCE GeneReport for Unigene cluster for CD320 Gene:

Hs.558499

mRNA Expression by UniProt/SwissProt for CD320 Gene:

Q9NPF0-CD320_HUMAN
Tissue specificity: Detected in the germinal center (GC) of lymphoid follicles (at protein level) (PubMed:11418631). Expressed abundantly on follicular dendritic cells (FDCs) (PubMed:10727470).

Evidence on tissue expression from TISSUES for CD320 Gene

  • Nervous system(4.6)
  • Kidney(4.3)
  • Stomach(4.2)
genes like me logo Genes that share expression patterns with CD320: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for CD320 Gene

Orthologs for CD320 Gene

This gene was present in the common ancestor of mammals.

Orthologs for CD320 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CD320 31
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CD320 31 30
  • 73.59 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cd320 30
  • 71.47 (n)
cow
(Bos Taurus)
Mammalia CD320 31 30
  • 71.15 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Cd320 17 31 30
  • 70.42 (n)
Species where no ortholog for CD320 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for CD320 Gene

ENSEMBL:
Gene Tree for CD320 (if available)
TreeFam:
Gene Tree for CD320 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CD320: view image

Paralogs for CD320 Gene

Paralogs for CD320 Gene

(7) SIMAP similar genes for CD320 Gene using alignment to 3 proteins:

  • CD320_HUMAN
  • M0R100_HUMAN
  • M0R1C4_HUMAN
genes like me logo Genes that share paralogs with CD320: view

Variants for CD320 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CD320 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
566210 Uncertain Significance: Methylmalonic aciduria due to transcobalamin receptor defect 8,308,280(-) C/G MISSENSE_VARIANT
648543 Uncertain Significance: Methylmalonic aciduria due to transcobalamin receptor defect 8,303,860(-) C/A MISSENSE_VARIANT
659247 Uncertain Significance: Methylmalonic aciduria due to transcobalamin receptor defect 8,308,256(-) C/A MISSENSE_VARIANT
659573 Uncertain Significance: Methylmalonic aciduria due to transcobalamin receptor defect 8,308,250(-) G/A MISSENSE_VARIANT
661454 Uncertain Significance: Methylmalonic aciduria due to transcobalamin receptor defect 8,305,097(-) C/T MISSENSE_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for CD320 Gene

Structural Variations from Database of Genomic Variants (DGV) for CD320 Gene

Variant ID Type Subtype PubMed ID
esv991034 CNV deletion 20482838
nsv1160579 CNV deletion 26073780
nsv169 CNV deletion 15895083
nsv2401 CNV deletion 18451855
nsv469677 CNV loss 16826518
nsv524436 CNV loss 19592680

Variation tolerance for CD320 Gene

Residual Variation Intolerance Score: 82.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.59; 78.07% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CD320 Gene

Human Gene Mutation Database (HGMD)
CD320
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CD320

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CD320 Gene

Disorders for CD320 Gene

MalaCards: The human disease database

(13) MalaCards diseases for CD320 Gene - From: OMIM, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
methylmalonic aciduria, transient, due to transcobalamin receptor defect
  • methylmalonic acidemia, tcblr type
anal gland adenocarcinoma
  • adenocarcinoma of anal ducts
anus adenocarcinoma
  • adenocarcinoma of anus
spleen angiosarcoma
  • angiosarcoma of spleen
spleen cancer
  • malignant splenic tumor
- elite association - COSMIC cancer census association via MalaCards
Search CD320 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CD320_HUMAN
  • Methylmalonic aciduria, transient, due to transcobalamin receptor defect (MMATC) [MIM:613646]: A metabolic disorder characterized by increased blood C3-acylcarnitine levels, elevated methylmalonate and homocysteine, and low uptake of transcobalamin-bound cobalamin, but normal conversion to adenosylcobalamin and methylcobalamin. {ECO:0000269 PubMed:20524213, ECO:0000269 PubMed:22819238, ECO:0000269 PubMed:27411955, ECO:0000269 PubMed:27535533}. Note=The disease may be caused by mutations affecting the gene represented in this entry.

Additional Disease Information for CD320

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CD320: view

No data available for Genatlas for CD320 Gene

Publications for CD320 Gene

  1. Identification of a human follicular dendritic cell molecule that stimulates germinal center B cell growth. (PMID: 10727470) Li L … Choi YS (The Journal of experimental medicine 2000) 2 3 4 23 54
  2. Structural basis of transcobalamin recognition by human CD320 receptor. (PMID: 27411955) Alam A … Locher KP (Nature communications 2016) 3 4 54
  3. Transcobalamin II receptor polymorphisms are associated with increased risk for neural tube defects. (PMID: 20577008) Pangilinan F … Brody LC (Journal of medical genetics 2010) 3 41 54
  4. Positive newborn screen for methylmalonic aciduria identifies the first mutation in TCblR/CD320, the gene for cellular uptake of transcobalamin-bound vitamin B(12). (PMID: 20524213) Quadros EV … Rosenblatt DS (Human mutation 2010) 3 4 54
  5. The protein and the gene encoding the receptor for the cellular uptake of transcobalamin-bound cobalamin. (PMID: 18779389) Quadros EV … Sequeira JM (Blood 2009) 3 4 54

Products for CD320 Gene

Sources for CD320 Gene