Details for: TCN2

Gene ID: 6948

Symbol: TCN2

Ensembl ID: ENSG00000185339

Description: transcobalamin 2

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: 102.4139
    Cell Significance Index: -15.9300
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 60.9911
    Cell Significance Index: -15.4700
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 38.6455
    Cell Significance Index: -15.7000
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 34.8744
    Cell Significance Index: -16.4700
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 16.4442
    Cell Significance Index: -15.7000
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 12.9526
    Cell Significance Index: -15.9700
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 6.3497
    Cell Significance Index: -17.0100
  • Cell Name: liver dendritic cell (CL2000055)
    Fold Change: 4.2533
    Cell Significance Index: 11.2200
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: 1.0260
    Cell Significance Index: 18.1300
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: 0.5942
    Cell Significance Index: 6.7500
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.5744
    Cell Significance Index: 518.6000
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.5664
    Cell Significance Index: 56.0300
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.5565
    Cell Significance Index: 60.5400
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.3251
    Cell Significance Index: 52.8700
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.3146
    Cell Significance Index: 21.7600
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.2267
    Cell Significance Index: 26.4200
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.2056
    Cell Significance Index: 28.2400
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.1713
    Cell Significance Index: 61.4500
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.1343
    Cell Significance Index: 2.9100
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.1309
    Cell Significance Index: 1.5600
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.1179
    Cell Significance Index: 81.5400
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.1122
    Cell Significance Index: 20.2200
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 0.0757
    Cell Significance Index: 1.4000
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.0752
    Cell Significance Index: 14.3100
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.0676
    Cell Significance Index: 3.0700
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 0.0575
    Cell Significance Index: 0.8900
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0493
    Cell Significance Index: 1.4200
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0374
    Cell Significance Index: 20.4500
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 0.0363
    Cell Significance Index: 0.2900
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.0332
    Cell Significance Index: 6.5900
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.0168
    Cell Significance Index: 0.4200
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0117
    Cell Significance Index: 0.4100
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.0013
    Cell Significance Index: 0.1600
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0001
    Cell Significance Index: -0.1100
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0047
    Cell Significance Index: -3.4500
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0047
    Cell Significance Index: -0.4800
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0051
    Cell Significance Index: -0.6500
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0105
    Cell Significance Index: -19.4100
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0123
    Cell Significance Index: -1.5900
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0125
    Cell Significance Index: -19.2100
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0126
    Cell Significance Index: -9.5400
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0142
    Cell Significance Index: -19.3500
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0145
    Cell Significance Index: -9.1900
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.0150
    Cell Significance Index: -0.7800
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0192
    Cell Significance Index: -14.2500
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.0216
    Cell Significance Index: -9.5400
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.0217
    Cell Significance Index: -1.3700
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0299
    Cell Significance Index: -16.8500
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0303
    Cell Significance Index: -18.9000
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0322
    Cell Significance Index: -1.5000
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0340
    Cell Significance Index: -15.4500
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0522
    Cell Significance Index: -15.0200
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0635
    Cell Significance Index: -10.8500
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0639
    Cell Significance Index: -12.8200
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.0639
    Cell Significance Index: -3.9200
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0657
    Cell Significance Index: -1.4000
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0755
    Cell Significance Index: -10.9700
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.0898
    Cell Significance Index: -0.9300
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0906
    Cell Significance Index: -19.0900
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: -0.0929
    Cell Significance Index: -0.7100
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.1077
    Cell Significance Index: -6.6200
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.1087
    Cell Significance Index: -2.3800
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1173
    Cell Significance Index: -13.4400
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.1285
    Cell Significance Index: -9.5800
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.1385
    Cell Significance Index: -7.7700
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.1400
    Cell Significance Index: -2.9300
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.1450
    Cell Significance Index: -17.1000
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: -0.1496
    Cell Significance Index: -1.2200
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1522
    Cell Significance Index: -15.8500
  • Cell Name: endothelial cell of uterus (CL0009095)
    Fold Change: -0.1581
    Cell Significance Index: -0.9900
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.1605
    Cell Significance Index: -4.3000
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.1688
    Cell Significance Index: -12.9600
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1880
    Cell Significance Index: -14.8900
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.1893
    Cell Significance Index: -13.3900
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.2031
    Cell Significance Index: -13.1000
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.2098
    Cell Significance Index: -6.7200
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.2195
    Cell Significance Index: -10.3200
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: -0.2222
    Cell Significance Index: -3.3300
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.2428
    Cell Significance Index: -12.7500
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.2583
    Cell Significance Index: -17.3700
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.2594
    Cell Significance Index: -6.8200
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.2679
    Cell Significance Index: -7.6800
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.2726
    Cell Significance Index: -14.2000
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.2886
    Cell Significance Index: -7.7200
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.3219
    Cell Significance Index: -6.8800
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: -0.3358
    Cell Significance Index: -4.8300
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.3363
    Cell Significance Index: -11.6900
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.3449
    Cell Significance Index: -15.2600
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.3450
    Cell Significance Index: -15.0000
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.3454
    Cell Significance Index: -17.4500
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.3653
    Cell Significance Index: -10.2100
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.3794
    Cell Significance Index: -15.5500
  • Cell Name: thyroid follicular cell (CL0002258)
    Fold Change: -0.4038
    Cell Significance Index: -4.2900
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.4220
    Cell Significance Index: -15.9800
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.4258
    Cell Significance Index: -5.8100
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.4438
    Cell Significance Index: -16.2900
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.4441
    Cell Significance Index: -11.3500
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.4482
    Cell Significance Index: -15.7000
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.4694
    Cell Significance Index: -7.8600
  • Cell Name: endothelial cell of hepatic sinusoid (CL1000398)
    Fold Change: -0.4744
    Cell Significance Index: -4.5100

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:** 1. **Structure and Function:** TCN2 is a small, soluble protein with a molecular weight of approximately 18 kDa. It binds to cobalamin with high affinity, facilitating its transport across cell membranes. 2. **Expression Patterns:** TCN2 is highly expressed in enterocytes of the colon, alveolar capillary type 2 endothelial cells, and endothelial cells of various organs, including the uterus, lung, and brain. 3. **Metabolic Pathways:** TCN2 is involved in the transport of cobalamin within the body, facilitating its uptake by cells and its subsequent metabolism. It also plays a role in the transport of other B vitamins and cofactors. **Pathways and Functions:** 1. **Cobalamin Transport:** TCN2 binds to cobalamin in the bloodstream and facilitates its transport across cell membranes, allowing it to reach tissues where it is required. 2. **Vitamin B12 Metabolism:** TCN2 is involved in the metabolism of cobalamin, facilitating its conversion into methylcobalamin, which is then used to synthesize methionine, a crucial amino acid for DNA synthesis and fatty acid metabolism. 3. **DNA and RNA Synthesis:** Cobalamin is required for the synthesis of DNA and RNA, and TCN2 plays a crucial role in maintaining optimal cobalamin levels in these processes. 4. **Fatty Acid Synthesis:** TCN2 is also involved in the synthesis of fatty acids, which are essential for energy production and cell membrane structure. **Clinical Significance:** 1. **Vitamin B12 Deficiency:** Defects in TCN2 have been linked to vitamin B12 deficiency, a condition characterized by fatigue, weakness, and neurological symptoms. 2. **Cobalamin Metabolism Disorders:** Impaired TCN2 function can lead to defects in cobalamin metabolism, resulting in a range of clinical manifestations, including anemia, neuropathy, and cognitive impairment. 3. **Immunological Implications:** TCN2 has been implicated in the regulation of immune cell function, including the activation of macrophages and the production of cytokines. In conclusion, TCN2 plays a critical role in cobalamin metabolism and transport, and its dysfunction can lead to a range of clinical manifestations. Further research is necessary to fully elucidate the mechanisms underlying TCN2 function and to explore the therapeutic potential of targeting this protein in the treatment of vitamin B12 deficiency and related disorders.

Genular Protein ID: 1711600972

Symbol: TCO2_HUMAN

Name: Transcobalamin-2

UniProtKB Accession Codes:

P20062 Q96FD4 Q9BVI8 Q9UCI5 Q9UCI6 Q9UDM0

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CTD 1 ChEBI 9 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 2 DrugCentral 1 EMBL 8 Ensembl 2 EvolutionaryTrace 1 ExpressionAtlas 1 GO 10 Gene3D 2 GeneCards 1 GeneTree 1 GenomeRNAi 1 HGNC 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 11 PDBsum 11 PIR 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 RNAct 1 Reactome 3 RefSeq 2 SABIO-RK 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 1708393

Title: The cDNA sequence and the deduced amino acid sequence of human transcobalamin II show homology with rat intrinsic factor and human transcobalamin I.

PubMed ID: 1708393

DOI: 10.1016/s0021-9258(20)89528-3

PubMed ID: 8439564

Title: Isolation and sequence analysis of variant forms of human transcobalamin II.

PubMed ID: 8439564

DOI: 10.1016/0167-4781(93)90264-e

PubMed ID: 7742531

Title: The cloning and characterization of the human transcobalamin II gene.

PubMed ID: 7742531

PubMed ID: 15461802

Title: A genome annotation-driven approach to cloning the human ORFeome.

PubMed ID: 15461802

DOI: 10.1186/gb-2004-5-10-r84

PubMed ID: 10591208

Title: The DNA sequence of human chromosome 22.

PubMed ID: 10591208

DOI: 10.1038/990031

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: 3782074

Title: Purification and molecular characterization of human transcobalamin II.

PubMed ID: 3782074

DOI: 10.1016/s0021-9258(18)66733-x

PubMed ID: 8443384

Title: Functional human transcobalamin II isoproteins are secreted by insect cells using the baculovirus expression system.

PubMed ID: 8443384

PubMed ID: 16537422

Title: Structural basis for mammalian vitamin B12 transport by transcobalamin.

PubMed ID: 16537422

DOI: 10.1073/pnas.0509099103

PubMed ID: 27411955

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

PubMed ID: 27411955

DOI: 10.1038/ncomms12100

PubMed ID: 11159542

Title: Transcobalamin codon 259 polymorphism in HT-29 and Caco-2 cells and in Caucasians: relation to transcobalamin and homocysteine concentration in blood.

PubMed ID: 11159542

DOI: 10.1182/blood.v97.4.1092

PubMed ID: 14632784

Title: Transcobalamin deficiency due to activation of an intra exonic cryptic splice site.

PubMed ID: 14632784

DOI: 10.1046/j.1365-2141.2003.04685.x

PubMed ID: 19373259

Title: TC II deficiency: avoidance of false-negative molecular genetics by RNA-based investigations.

PubMed ID: 19373259

DOI: 10.1038/jhg.2009.34

PubMed ID: 33023511

Title: Identification of transcobalamin deficiency with two novel mutations in the TCN2 gene in a Chinese girl with abnormal immunity: a case report.

PubMed ID: 33023511

DOI: 10.1186/s12887-020-02357-6

PubMed ID: 32841161

Title: Transcobalamin II deficiency in twins with a novel variant in the TCN2 gene: case report and review of literature.

PubMed ID: 32841161

DOI: 10.1515/jpem-2020-0096

Sequence Information:

  • Length: 427
  • Mass: 47535
  • Checksum: FD04A110941989DB
  • Sequence:
    • MRHLGAFLFL LGVLGALTEM CEIPEMDSHL VEKLGQHLLP WMDRLSLEHL NPSIYVGLRL 
SSLQAGTKED LYLHSLKLGY QQCLLGSAFS EDDGDCQGKP SMGQLALYLL ALRANCEFVR 
GHKGDRLVSQ LKWFLEDEKR AIGHDHKGHP HTSYYQYGLG ILALCLHQKR VHDSVVDKLL 
YAVEPFHQGH HSVDTAAMAG LAFTCLKRSN FNPGRRQRIT MAIRTVREEI LKAQTPEGHF 
GNVYSTPLAL QFLMTSPMRG AELGTACLKA RVALLASLQD GAFQNALMIS QLLPVLNHKT 
YIDLIFPDCL APRVMLEPAA ETIPQTQEII SVTLQVLSLL PPYRQSISVL AGSTVEDVLK 
KAHELGGFTY ETQASLSGPY LTSVMGKAAG EREFWQLLRD PNTPLLQGIA DYRPKDGETI 
ELRLVSW

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.