Details for: CD320

Gene ID: 51293

Symbol: CD320

Ensembl ID: ENSG00000167775

Description: CD320 molecule

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 181.9407
    Cell Significance Index: -28.3000
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 111.0220
    Cell Significance Index: -28.1600
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 78.4323
    Cell Significance Index: -32.3100
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 72.2695
    Cell Significance Index: -29.3600
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 66.8682
    Cell Significance Index: -31.5700
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 24.4210
    Cell Significance Index: -30.1100
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 9.6198
    Cell Significance Index: -25.7700
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 7.8661
    Cell Significance Index: -31.0400
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 6.5376
    Cell Significance Index: -20.0800
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 3.7916
    Cell Significance Index: 60.8300
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 2.7453
    Cell Significance Index: 319.9300
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: 2.3380
    Cell Significance Index: 41.3200
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: 1.7675
    Cell Significance Index: 20.0800
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: 1.6291
    Cell Significance Index: 17.7100
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 1.3255
    Cell Significance Index: 79.5800
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 1.2872
    Cell Significance Index: 209.3600
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 1.1153
    Cell Significance Index: 1007.0800
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 1.0782
    Cell Significance Index: 588.8100
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 1.0190
    Cell Significance Index: 21.3300
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.8711
    Cell Significance Index: 22.9100
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 0.8128
    Cell Significance Index: 6.4900
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.7586
    Cell Significance Index: 22.2800
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 0.6958
    Cell Significance Index: 24.1800
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.6490
    Cell Significance Index: 89.1200
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.6112
    Cell Significance Index: 32.0900
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.6052
    Cell Significance Index: 41.8600
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.5683
    Cell Significance Index: 25.7600
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.4848
    Cell Significance Index: 31.2800
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.4315
    Cell Significance Index: 55.7500
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.3512
    Cell Significance Index: 16.3800
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.3490
    Cell Significance Index: 34.5200
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 0.3168
    Cell Significance Index: 4.5400
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.3162
    Cell Significance Index: 62.7500
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.2879
    Cell Significance Index: 36.9100
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.2673
    Cell Significance Index: 7.7000
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.2671
    Cell Significance Index: 50.8300
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.2325
    Cell Significance Index: 102.7800
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.2120
    Cell Significance Index: 9.9700
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.2106
    Cell Significance Index: 37.9700
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.1932
    Cell Significance Index: 23.7600
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.1897
    Cell Significance Index: 38.0500
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.1657
    Cell Significance Index: 12.3500
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.1448
    Cell Significance Index: 51.9300
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.1174
    Cell Significance Index: 3.7600
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.1072
    Cell Significance Index: 74.1100
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.1065
    Cell Significance Index: 6.7100
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.0697
    Cell Significance Index: 1.5100
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.0587
    Cell Significance Index: 44.4100
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.0527
    Cell Significance Index: 3.7300
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0289
    Cell Significance Index: 1.0200
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.0267
    Cell Significance Index: 3.1500
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0084
    Cell Significance Index: 6.1600
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.0007
    Cell Significance Index: -0.0200
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0030
    Cell Significance Index: -0.0800
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0065
    Cell Significance Index: -12.2200
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0214
    Cell Significance Index: -39.4200
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0245
    Cell Significance Index: -37.7700
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0284
    Cell Significance Index: -0.4800
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0292
    Cell Significance Index: -39.7100
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0317
    Cell Significance Index: -23.4700
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0340
    Cell Significance Index: -21.5800
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0470
    Cell Significance Index: -26.5000
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0528
    Cell Significance Index: -9.0200
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0588
    Cell Significance Index: -36.6900
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0635
    Cell Significance Index: -6.4900
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0654
    Cell Significance Index: -29.7000
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.0713
    Cell Significance Index: -0.8500
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0848
    Cell Significance Index: -24.4100
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0898
    Cell Significance Index: -4.5400
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.1006
    Cell Significance Index: -2.5700
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.1268
    Cell Significance Index: -2.7000
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.1317
    Cell Significance Index: -3.8800
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1394
    Cell Significance Index: -20.2600
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1673
    Cell Significance Index: -19.1700
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1692
    Cell Significance Index: -35.6500
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: -0.1702
    Cell Significance Index: -2.1800
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.1944
    Cell Significance Index: -14.9200
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.2280
    Cell Significance Index: -9.3400
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.2652
    Cell Significance Index: -16.3000
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.2946
    Cell Significance Index: -30.6800
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.3115
    Cell Significance Index: -17.4800
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.3303
    Cell Significance Index: -17.1600
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.3549
    Cell Significance Index: -21.7600
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.3622
    Cell Significance Index: -9.0600
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: -0.3649
    Cell Significance Index: -3.0700
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: -0.3788
    Cell Significance Index: -5.8600
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.3825
    Cell Significance Index: -30.3000
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.4015
    Cell Significance Index: -27.0000
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.4045
    Cell Significance Index: -11.0100
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.4069
    Cell Significance Index: -9.4000
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.4273
    Cell Significance Index: -22.2600
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.4307
    Cell Significance Index: -9.4300
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.4568
    Cell Significance Index: -12.2200
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.4776
    Cell Significance Index: -13.6900
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.5951
    Cell Significance Index: -6.1600
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: -0.6008
    Cell Significance Index: -3.6300
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.6215
    Cell Significance Index: -27.4900
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: -0.6407
    Cell Significance Index: -9.6000
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.7022
    Cell Significance Index: -24.6000
  • Cell Name: germ cell (CL0000586)
    Fold Change: -0.7198
    Cell Significance Index: -5.4400

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** The CD320 gene is a single-copy gene with an expression profile that is widespread across various cell types, including hematopoietic cells, embryonic stem cells, and smooth muscle fibers. The CD320 protein is a transmembrane molecule with a unique structure, featuring a single transmembrane domain and a cytoplasmic domain. This protein has been shown to have multiple functional domains, including a calcium-binding domain and a cargo receptor activity domain. The CD320 protein is also known to interact with various proteins, including receptors, kinases, and signaling molecules, which highlights its central role in regulating cellular signaling pathways. **Pathways and Functions:** The CD320 gene is involved in several critical signaling pathways, including: 1. **B cell costimulation**: CD320 plays a crucial role in regulating B cell proliferation and differentiation. It interacts with various co-receptors and signaling molecules to modulate B cell responses. 2. **Calcium ion binding**: The CD320 protein has a calcium-binding domain, which regulates its activity and interaction with other proteins. 3. **Cargo receptor activity**: CD320 acts as a cargo receptor, transporting cobalamin and its derivatives within the cell. 4. **Cobalamin transport and metabolism**: The CD320 protein is essential for the transport and metabolism of cobalamin, a critical cofactor for various cellular processes. 5. **Signal transduction**: CD320 interacts with various signaling molecules, including kinases and receptors, to regulate cellular signaling pathways. **Clinical Significance:** Dysregulation of the CD320 gene has been linked to various metabolic disorders, including: 1. **Defects in cobalamin (B12) metabolism**: Mutations in the CD320 gene have been associated with defects in cobalamin metabolism, leading to impaired cellular function and increased risk of neurological disorders. 2. **Defects in vitamin and cofactor metabolism**: CD320 dysfunction has been linked to defects in vitamin and cofactor metabolism, leading to impaired cellular function and increased risk of disease. 3. **Diseases of metabolism**: The CD320 gene has been implicated in various metabolic disorders, including diabetes, obesity, and cardiovascular disease. 4. **Endoplasmic reticulum dysfunction**: CD320 dysfunction has been linked to endoplasmic reticulum dysfunction, leading to impaired cellular function and increased risk of disease. In conclusion, the CD320 gene plays a critical role in regulating cobalamin metabolism and immune function. Dysregulation of this gene has been linked to various metabolic disorders and immune system dysfunctions. Further research is needed to fully understand the mechanisms underlying CD320 function and its role in human disease.

Genular Protein ID: 1229628815

Symbol: CD320_HUMAN

Name: CD320 antigen

UniProtKB Accession Codes:

Q9NPF0 B2RDS5 D6W668 F5H6D3 Q53HF7

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 1 CTD 1 ChEBI 12 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 13 Ensembl 2 ExpressionAtlas 1 GO 13 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 6 PDBsum 6 PRINTS 1 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 2 RefSeq 2 SABIO-RK 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 10727470

Title: Identification of a human follicular dendritic cell molecule that stimulates germinal center B cell growth.

PubMed ID: 10727470

DOI: 10.1084/jem.191.6.1077

PubMed ID: 11230166

Title: Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs.

PubMed ID: 11230166

DOI: 10.1101/gr.gr1547r

PubMed ID: 12975309

Title: The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.

PubMed ID: 12975309

DOI: 10.1101/gr.1293003

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15057824

Title: The DNA sequence and biology of human chromosome 19.

PubMed ID: 15057824

DOI: 10.1038/nature02399

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 15340161

Title: Signal peptide prediction based on analysis of experimentally verified cleavage sites.

PubMed ID: 15340161

DOI: 10.1110/ps.04682504

PubMed ID: 11418631

Title: The distinct roles of T cell-derived cytokines and a novel follicular dendritic cell-signaling molecule 8D6 in germinal center-B cell differentiation.

PubMed ID: 11418631

DOI: 10.4049/jimmunol.167.1.49

PubMed ID: 18779389

Title: The protein and the gene encoding the receptor for the cellular uptake of transcobalamin-bound cobalamin.

PubMed ID: 18779389

DOI: 10.1182/blood-2008-05-158949

PubMed ID: 20524213

Title: Positive newborn screen for methylmalonic aciduria identifies the first mutation in TCblR/CD320, the gene for cellular uptake of transcobalamin-bound vitamin B(12).

PubMed ID: 20524213

DOI: 10.1002/humu.21297

PubMed ID: 27411955

Title: Structural basis of transcobalamin recognition by human CD320 receptor.

PubMed ID: 27411955

DOI: 10.1038/ncomms12100

PubMed ID: 22819238

Title: Bilateral central retinal artery occlusions in an infant with hyperhomocysteinemia.

PubMed ID: 22819238

DOI: 10.1016/j.jaapos.2012.04.003

PubMed ID: 27535533

Title: Analysis of protein-coding genetic variation in 60,706 humans.

PubMed ID: 27535533

DOI: 10.1038/nature19057

Sequence Information:

  • Length: 282
  • Mass: 28991
  • Checksum: 59E172986B220E4F
  • Sequence:
    • MSGGWMAQVG AWRTGALGLA LLLLLGLGLG LEAAASPLST PTSAQAAGPS SGSCPPTKFQ 
CRTSGLCVPL TWRCDRDLDC SDGSDEEECR IEPCTQKGQC PPPPGLPCPC TGVSDCSGGT 
DKKLRNCSRL ACLAGELRCT LSDDCIPLTW RCDGHPDCPD SSDELGCGTN EILPEGDATT 
MGPPVTLESV TSLRNATTMG PPVTLESVPS VGNATSSSAG DQSGSPTAYG VIAAAAVLSA 
SLVTATLLLL SWLRAQERLR PLGLLVAMKE SLLLSEQKTS LP

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.