Details for: TM6SF2

Gene ID: 53345

Symbol: TM6SF2

Ensembl ID: ENSG00000213996

Description: transmembrane 6 superfamily member 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: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 4.8527
    Cell Significance Index: 139.8200
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 3.8727
    Cell Significance Index: 83.9000
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 2.1493
    Cell Significance Index: 409.0200
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 2.0373
    Cell Significance Index: 21.0900
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 1.5465
    Cell Significance Index: 251.5300
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 1.3580
    Cell Significance Index: 32.9000
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.8730
    Cell Significance Index: 94.9600
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.8509
    Cell Significance Index: 768.3100
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.8463
    Cell Significance Index: 17.5600
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.8217
    Cell Significance Index: 17.5000
  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: 0.7451
    Cell Significance Index: 4.6100
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: 0.5298
    Cell Significance Index: 8.7300
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.5186
    Cell Significance Index: 35.8700
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 0.5129
    Cell Significance Index: -1.1200
  • Cell Name: thymocyte (CL0000893)
    Fold Change: 0.5081
    Cell Significance Index: 6.4200
  • Cell Name: intestinal crypt stem cell (CL0002250)
    Fold Change: 0.3851
    Cell Significance Index: 2.7100
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: 0.2225
    Cell Significance Index: 2.8200
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 0.2032
    Cell Significance Index: 3.2600
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.1896
    Cell Significance Index: 37.6300
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.1728
    Cell Significance Index: 17.0900
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.1634
    Cell Significance Index: 5.7400
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.1484
    Cell Significance Index: 3.7100
  • Cell Name: precursor cell (CL0011115)
    Fold Change: 0.1437
    Cell Significance Index: 1.0900
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: 0.1135
    Cell Significance Index: 1.6300
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 0.0994
    Cell Significance Index: 1.6800
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 0.0838
    Cell Significance Index: 1.4100
  • Cell Name: tuft cell of small intestine (CL0009080)
    Fold Change: 0.0813
    Cell Significance Index: 0.8200
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0417
    Cell Significance Index: 8.3700
  • Cell Name: colonocyte (CL1000347)
    Fold Change: 0.0388
    Cell Significance Index: 0.2400
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.0287
    Cell Significance Index: 0.7700
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 0.0240
    Cell Significance Index: 0.3600
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.0218
    Cell Significance Index: 0.9900
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: 0.0156
    Cell Significance Index: 0.7900
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0137
    Cell Significance Index: 1.7500
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0118
    Cell Significance Index: 4.2300
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.0105
    Cell Significance Index: 0.1800
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.0082
    Cell Significance Index: 0.9600
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.0041
    Cell Significance Index: 0.1100
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0006
    Cell Significance Index: -0.0100
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.0038
    Cell Significance Index: -0.0800
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0040
    Cell Significance Index: -2.2000
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0045
    Cell Significance Index: -3.3200
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0052
    Cell Significance Index: -2.9400
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0054
    Cell Significance Index: -0.7400
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0065
    Cell Significance Index: -4.8000
  • Cell Name: cytotoxic T cell (CL0000910)
    Fold Change: -0.0069
    Cell Significance Index: -0.1000
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0119
    Cell Significance Index: -3.4200
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.0125
    Cell Significance Index: -0.4000
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0140
    Cell Significance Index: -2.5300
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.0161
    Cell Significance Index: -0.7000
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0181
    Cell Significance Index: -3.8100
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0184
    Cell Significance Index: -1.0300
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: -0.0206
    Cell Significance Index: -0.2900
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0221
    Cell Significance Index: -3.7700
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0294
    Cell Significance Index: -2.2500
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0297
    Cell Significance Index: -3.4000
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0320
    Cell Significance Index: -3.2700
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.0331
    Cell Significance Index: -1.3600
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0347
    Cell Significance Index: -4.2700
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0372
    Cell Significance Index: -4.8000
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.0386
    Cell Significance Index: -0.5700
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.0411
    Cell Significance Index: -2.5200
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0492
    Cell Significance Index: -3.3100
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0492
    Cell Significance Index: -1.3700
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0535
    Cell Significance Index: -3.2900
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.0570
    Cell Significance Index: -1.2100
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.0595
    Cell Significance Index: -3.1300
  • Cell Name: preosteoblast (CL0007010)
    Fold Change: -0.0617
    Cell Significance Index: -0.5600
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.0637
    Cell Significance Index: -3.3100
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0643
    Cell Significance Index: -4.7900
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.0685
    Cell Significance Index: -2.4000
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: -0.0756
    Cell Significance Index: -0.9200
  • Cell Name: keratocyte (CL0002363)
    Fold Change: -0.0813
    Cell Significance Index: -1.2900
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.0837
    Cell Significance Index: -2.6700
  • Cell Name: melanocyte of skin (CL1000458)
    Fold Change: -0.0838
    Cell Significance Index: -1.1700
  • Cell Name: enterocyte (CL0000584)
    Fold Change: -0.0854
    Cell Significance Index: -0.5300
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0866
    Cell Significance Index: -3.8300
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0879
    Cell Significance Index: -4.1300
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.0883
    Cell Significance Index: -2.8900
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.0889
    Cell Significance Index: -4.6300
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -0.0973
    Cell Significance Index: -0.6600
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.0996
    Cell Significance Index: -3.7700
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.1057
    Cell Significance Index: -2.7800
  • Cell Name: fast muscle cell (CL0000190)
    Fold Change: -0.1057
    Cell Significance Index: -1.3800
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.1062
    Cell Significance Index: -3.9000
  • Cell Name: respiratory suprabasal cell (CL4033048)
    Fold Change: -0.1063
    Cell Significance Index: -0.9600
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.1128
    Cell Significance Index: -1.7000
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: -0.1128
    Cell Significance Index: -1.6200
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.1159
    Cell Significance Index: -2.8900
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.1176
    Cell Significance Index: -3.2000
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.1180
    Cell Significance Index: -2.5500
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.1181
    Cell Significance Index: -3.3700
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.1193
    Cell Significance Index: -2.4900
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.1206
    Cell Significance Index: -1.3700
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: -0.1239
    Cell Significance Index: -3.9200
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.1254
    Cell Significance Index: -2.4800
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.1255
    Cell Significance Index: -2.5200
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.1269
    Cell Significance Index: -4.4100
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.1288
    Cell Significance Index: -1.4000
  • Cell Name: M cell of gut (CL0000682)
    Fold Change: -0.1296
    Cell Significance Index: -1.0800

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:** TM6SF2 is a transmembrane protein with a unique structure, consisting of six transmembrane domains and an intracellular domain. Its expression is highly restricted to specific cell types, including those found in the gastrointestinal tract and immune cells. The gene is encoded by a single exon and has been identified in human and mouse genomes. TM6SF2 is characterized by its unique ability to bind to lipids and regulate their metabolic processes, as well as its role in regulating immune cell functions and responses. **Pathways and Functions:** TM6SF2 plays a critical role in regulating lipid metabolic processes, including lipid homeostasis and lipid metabolic pathways. Its ability to bind to lipids allows it to modulate their uptake, storage, and degradation, thereby influencing lipid metabolism in various cell types. TM6SF2 also regulates immune cell functions, including the activation, proliferation, and differentiation of immune cells such as monocytes and stem cells. The gene's role in regulating immune responses is mediated through its interaction with various signaling pathways, including those involved in the regulation of lipid metabolic processes. **Clinical Significance:** TM6SF2 has been implicated in various diseases, including metabolic disorders, inflammatory diseases, and cancer. Its dysregulation has been linked to impaired lipid metabolism, immune dysfunction, and increased susceptibility to disease. For example, studies have shown that TM6SF2 is overexpressed in individuals with obesity and metabolic syndrome, suggesting a potential role in the development of these diseases. Additionally, TM6SF2 has been implicated in the pathogenesis of inflammatory diseases, such as rheumatoid arthritis and atherosclerosis, where its dysregulation leads to impaired immune function and lipid metabolism. In conclusion, TM6SF2 is a critical regulator of lipid metabolism and immune function, with significant implications for human health and disease. Further research is needed to fully elucidate the mechanisms underlying its functions and to explore its therapeutic potential in various diseases. **Future Directions:** 1. Investigating the molecular mechanisms underlying TM6SF2's role in lipid metabolism and immune regulation. 2. Examining the expression and function of TM6SF2 in different disease models, including metabolic disorders and inflammatory diseases. 3. Developing therapeutic strategies targeting TM6SF2 to modulate lipid metabolism and immune function. 4. Investigating the potential role of TM6SF2 in cancer development and progression. By exploring the complex functions of TM6SF2, researchers can gain a deeper understanding of its role in human health and disease, ultimately leading to the development of novel therapeutic strategies to modulate lipid metabolism and immune function.

Genular Protein ID: 3093528288

Symbol: TM6S2_HUMAN

Name: Transmembrane 6 superfamily member 2

UniProtKB Accession Codes:

Q9BZW4 Q0IJ64

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 5 Ensembl 1 GO 6 GeneCards 1 GeneTree 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 2 KEGG 1 MANE-Select 1 MIM 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhylomeDB 1 Proteomes 1 RNAct 1 RefSeq 1 STRING 1 SignaLink 1 TCDB 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 neXtProt 1

Citations:

PubMed ID: 15057824

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

PubMed ID: 15057824

DOI: 10.1038/nature02399

PubMed ID: 11124529

Title: Cloning of the novel gene TM6SF1 reveals conservation of clusters of paralogous genes between human chromosomes 15q24-q26 and 19p13.3-p12.

PubMed ID: 11124529

DOI: 10.1159/000056784

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: 25566323

Title: TM6SF2 and MAC30, new enzyme homologs in sterol metabolism and common metabolic disease.

PubMed ID: 25566323

DOI: 10.3389/fgene.2014.00439

PubMed ID: 24633158

Title: Systematic evaluation of coding variation identifies a candidate causal variant in TM6SF2 influencing total cholesterol and myocardial infarction risk.

PubMed ID: 24633158

DOI: 10.1038/ng.2926

PubMed ID: 24531328

Title: Exome-wide association study identifies a TM6SF2 variant that confers susceptibility to nonalcoholic fatty liver disease.

PubMed ID: 24531328

DOI: 10.1038/ng.2901

PubMed ID: 24978903

Title: TM6SF2 rs58542926 influences hepatic fibrosis progression in patients with non-alcoholic fatty liver disease.

PubMed ID: 24978903

DOI: 10.1038/ncomms5309

PubMed ID: 24927523

Title: TM6SF2 is a regulator of liver fat metabolism influencing triglyceride secretion and hepatic lipid droplet content.

PubMed ID: 24927523

DOI: 10.1073/pnas.1323785111

Sequence Information:

  • Length: 377
  • Mass: 42554
  • Checksum: 56C2576367BBF2DF
  • Sequence:
    • MDIPPLAGKI AALSLSALPV SYALNHVSAL SHPLWVALMS ALILGLLFVA VYSLSHGEVS 
YDPLYAVFAV FAFTSVVDLI IALQEDSYVV GFMEFYTKEG EPYLRTAHGV FICYWDGTVH 
YLLYLAMAGA ICRRKRYRNF GLYWLGSFAM SILVFLTGNI LGKYSSEIRP AFFLTIPYLL 
VPCWAGMKVF SQPRALTRCT ANMVQEEQRK GLLQRPADLA LVIYLILAGF FTLFRGLVVL 
DCPTDACFVY IYQYEPYLRD PVAYPKVQML MYMFYVLPFC GLAAYALTFP GCSWLPDWAL 
VFAGGIGQAQ FSHMGASMHL RTPFTYRVPE DTWGCFFVCN LLYALGPHLL AYRCLQWPAF 
FHQPPPSDPL ALHKKQH

Genular Protein ID: 3580855730

Symbol: Q8N8A7_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q8N8A7

Database IDs:

AlphaFoldDB 1 BioGRID-ORCS 1 CTD 1 DNASU 1 DisGeNET 1 EMBL 4 GO 4 KEGG 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PeptideAtlas 1 PharmGKB 1 RefSeq 1 SAM 2

Citations:

PubMed ID: 11181995

Title: The sequence of the human genome.

PubMed ID: 11181995

DOI: 10.1126/science.1058040

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

Sequence Information:

  • Length: 213
  • Mass: 22485
  • Checksum: A246A5C01E5D04DA
  • Sequence:
    • MDIPPLAGKI AALSLSALPV SYALNHVSAL SHPLWVALMS ALILGLLFVA VYSLSHGEVS 
YDPLYAVFAV FAFTSVVDLI IALQEDSYVV GFMEFYTKEV LGGRPGSPLP HCPSESPTCP 
HRESHTCAQR TESSSATGMA LFTTSSTWPW PAPSAEGAGG RERVAPDPGR EVASSDGVPG 
QGGARSVCRR NQDASLGLQP GVARRRFQGT SQV

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.