Details for: DEFA6

Gene ID: 1671

Symbol: DEFA6

Ensembl ID: ENSG00000164822

Description: defensin alpha 6

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: neuroendocrine cell (CL0000165)
    Fold Change: 19.15
    Marker Score: 7442
  • Cell Name: double negative thymocyte (CL0002489)
    Fold Change: 5.08
    Marker Score: 7005
  • Cell Name: intestinal crypt stem cell (CL0002250)
    Fold Change: 1.47
    Marker Score: 553
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 1.41
    Marker Score: 1401.5
  • Cell Name: enterocyte of colon (CL1000347)
    Fold Change: 1.39
    Marker Score: 2140
  • Cell Name: plasma cell (CL0000786)
    Fold Change: 1.22
    Marker Score: 1365
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 1.12
    Marker Score: 589
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 1.12
    Marker Score: 635
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 1.05
    Marker Score: 6949
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.99
    Marker Score: 509
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30406
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.98
    Marker Score: 462
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2411
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.92
    Marker Score: 5259
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.92
    Marker Score: 2741
  • Cell Name: double-positive, alpha-beta thymocyte (CL0000809)
    Fold Change: 0.91
    Marker Score: 1791.5
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.91
    Marker Score: 327
  • Cell Name: epithelial fate stem cell (CL0000036)
    Fold Change: 0.9
    Marker Score: 259
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5288
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.82
    Marker Score: 330.5
  • Cell Name: paneth cell (CL0000510)
    Fold Change: 0.78
    Marker Score: 544
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1261
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.76
    Marker Score: 319
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.76
    Marker Score: 693
  • Cell Name: lymphocyte (CL0000542)
    Fold Change: 0.74
    Marker Score: 375
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.72
    Marker Score: 461
  • Cell Name: B cell (CL0000236)
    Fold Change: 0.69
    Marker Score: 656
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.68
    Marker Score: 2858
  • Cell Name: type L enteroendocrine cell (CL0002279)
    Fold Change: 0.67
    Marker Score: 182
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: 0.64
    Marker Score: 1028
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 0.62
    Marker Score: 2988
  • Cell Name: intestine goblet cell (CL0019031)
    Fold Change: 0.62
    Marker Score: 595
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.55
    Marker Score: 442
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.54
    Marker Score: 249
  • Cell Name: plasmacytoid dendritic cell (CL0000784)
    Fold Change: 0.5
    Marker Score: 268
  • Cell Name: precursor cell (CL0011115)
    Fold Change: 0.49
    Marker Score: 120
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.44
    Marker Score: 299
  • Cell Name: T cell (CL0000084)
    Fold Change: 0.4
    Marker Score: 693
  • Cell Name: M cell of gut (CL0000682)
    Fold Change: 0.38
    Marker Score: 98
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.37
    Marker Score: 214
  • Cell Name: naive T cell (CL0000898)
    Fold Change: 0.37
    Marker Score: 237.5
  • Cell Name: innate lymphoid cell (CL0001065)
    Fold Change: 0.36
    Marker Score: 131
  • Cell Name: enterocyte of epithelium proper of ileum (CL1000342)
    Fold Change: 0.35
    Marker Score: 102
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.31
    Marker Score: 225
  • Cell Name: alpha-beta T cell (CL0000789)
    Fold Change: 0.28
    Marker Score: 209.5
  • Cell Name: glial cell (CL0000125)
    Fold Change: 0.27
    Marker Score: 298
  • Cell Name: large intestine goblet cell (CL1000320)
    Fold Change: 0.27
    Marker Score: 71
  • Cell Name: epithelial cell of lung (CL0000082)
    Fold Change: 0.25
    Marker Score: 1310
  • Cell Name: intraepithelial lymphocyte (CL0002496)
    Fold Change: 0.24
    Marker Score: 264
  • Cell Name: fibroblast (CL0000057)
    Fold Change: 0.24
    Marker Score: 229
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 0.23
    Marker Score: 66
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.23
    Marker Score: 65
  • Cell Name: pericyte (CL0000669)
    Fold Change: 0.22
    Marker Score: 129
  • Cell Name: thymocyte (CL0000893)
    Fold Change: 0.22
    Marker Score: 229
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.21
    Marker Score: 86
  • Cell Name: endothelial cell of artery (CL1000413)
    Fold Change: 0.21
    Marker Score: 85
  • Cell Name: conventional dendritic cell (CL0000990)
    Fold Change: 0.2
    Marker Score: 138
  • Cell Name: naive B cell (CL0000788)
    Fold Change: 0.2
    Marker Score: 178
  • Cell Name: stem cell (CL0000034)
    Fold Change: 0.19
    Marker Score: 461
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.19
    Marker Score: 65
  • Cell Name: endothelial cell of lymphatic vessel (CL0002138)
    Fold Change: 0.18
    Marker Score: 115
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 0.17
    Marker Score: 152
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 0.17
    Marker Score: 177.5
  • Cell Name: activated CD4-positive, alpha-beta T cell, human (CL0001043)
    Fold Change: 0.16
    Marker Score: 74
  • Cell Name: IgA plasma cell (CL0000987)
    Fold Change: 0.16
    Marker Score: 138
  • Cell Name: IgG plasma cell (CL0000985)
    Fold Change: 0.16
    Marker Score: 68
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.15
    Marker Score: 48
  • Cell Name: vein endothelial cell (CL0002543)
    Fold Change: 0.15
    Marker Score: 137
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.15
    Marker Score: 37
  • Cell Name: type EC enteroendocrine cell (CL0000577)
    Fold Change: 0.14
    Marker Score: 135
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: 0.14
    Marker Score: 227
  • Cell Name: T follicular helper cell (CL0002038)
    Fold Change: 0.14
    Marker Score: 114
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.13
    Marker Score: 34.5
  • Cell Name: stromal cell (CL0000499)
    Fold Change: 0.13
    Marker Score: 155
  • Cell Name: gamma-delta T cell (CL0000798)
    Fold Change: 0.13
    Marker Score: 87
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.13
    Marker Score: 218
  • Cell Name: memory B cell (CL0000787)
    Fold Change: 0.13
    Marker Score: 95
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.12
    Marker Score: 31
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 0.12
    Marker Score: 37
  • Cell Name: enteroendocrine cell (CL0000164)
    Fold Change: 0.12
    Marker Score: 60
  • Cell Name: dendritic cell (CL0000451)
    Fold Change: 0.1
    Marker Score: 72
  • Cell Name: activated CD8-positive, alpha-beta T cell (CL0000906)
    Fold Change: 0.1
    Marker Score: 76
  • Cell Name: inflammatory macrophage (CL0000863)
    Fold Change: 0.1
    Marker Score: 31
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.1
    Marker Score: 31
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 0.09
    Marker Score: 29
  • Cell Name: follicular dendritic cell (CL0000442)
    Fold Change: 0.09
    Marker Score: 34
  • Cell Name: T-helper 17 cell (CL0000899)
    Fold Change: 0.09
    Marker Score: 61
  • Cell Name: progenitor cell of endocrine pancreas (CL0002351)
    Fold Change: 0.09
    Marker Score: 20
  • Cell Name: leukocyte (CL0000738)
    Fold Change: 0.08
    Marker Score: 48
  • Cell Name: intestinal crypt stem cell of large intestine (CL0009016)
    Fold Change: 0.08
    Marker Score: 25
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 0.08
    Marker Score: 30
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: 0.08
    Marker Score: 30
  • Cell Name: reticular cell (CL0000432)
    Fold Change: 0.08
    Marker Score: 29
  • Cell Name: activated CD4-positive, alpha-beta T cell (CL0000896)
    Fold Change: 0.08
    Marker Score: 57
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 0.08
    Marker Score: 159
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: 0.08
    Marker Score: 42
  • Cell Name: IgM plasma cell (CL0000986)
    Fold Change: 0.07
    Marker Score: 26
  • Cell Name: germinal center B cell (CL0000844)
    Fold Change: 0.07
    Marker Score: 45
  • Cell Name: CD8-positive, alpha-beta memory T cell (CL0000909)
    Fold Change: 0.07
    Marker Score: 62
  • Cell Name: group 3 innate lymphoid cell (CL0001071)
    Fold Change: 0.07
    Marker Score: 30

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Other Information

**Key characteristics:** - DEFA6 is a transmembrane protein with a molecular weight of approximately 50 kDa. - It is expressed in a variety of cell types, including neuroendocrine cells, epithelial cells, and immune cells. - It is a key component of the innate immune response against pathogens. **Pathways and functions:** - DEFA6 is involved in the defense against various pathogens, including bacteria, fungi, and parasites. - It is produced in mucosal tissues, where it is expressed on epithelial cells and immune cells. - Upon binding to pathogens, DEFA6 triggers the activation of immune cells, leading to the production of inflammatory cytokines and the recruitment of phagocytes to the site of infection. - It also inhibits the growth of cancer cells. **Clinical significance:** - Mutations in the DEFA6 gene have been linked to an increased susceptibility to bacterial and fungal infections. - Defensins are being investigated as potential therapeutic agents for a variety of diseases, including pneumonia, sepsis, and cancer. - For example, a deficiency in DEFA6 has been associated with a higher risk of antibiotic-resistant infections in patients with cystic fibrosis. **Conclusion:** The DEFA6 gene is an important component of the innate immune response against pathogens. Its expression and activity are regulated by various factors, including cytokines and growth factors. Mutations in the DEFA6 gene have significant implications for human health, and it is a promising target for the development of novel antimicrobial therapies.

Genular Protein ID: 786578278

Symbol: DEF6_HUMAN

Name: Defensin-6

UniProtKB Accession Codes:

Q01524 Q6EZF9

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 10 Ensembl 2 EvolutionaryTrace 1 GO 14 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PDB 5 PDBsum 2 PIR 1 PIRSF 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 Reactome 2 RefSeq 1 SMART 2 SMR 1 STRING 1 SignaLink 1 TCDB 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 8417977

Title: Defensin-6 mRNA in human Paneth cells: implications for antimicrobial peptides in host defense of the human bowel.

PubMed ID: 8417977

DOI: 10.1016/0014-5793(93)81160-2

PubMed ID: 8626737

Title: Human enteric defensins. Gene structure and developmental expression.

PubMed ID: 8626737

DOI: 10.1074/jbc.271.8.4038

PubMed ID: 16421571

Title: DNA sequence and analysis of human chromosome 8.

PubMed ID: 16421571

DOI: 10.1038/nature04406

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: 27076903

Title: Proteolysis Triggers Self-Assembly and Unmasks Innate Immune Function of a Human alpha-Defensin Peptide.

PubMed ID: 27076903

DOI: 10.1039/c5sc04194e

PubMed ID: 15616305

Title: Antibacterial activity and specificity of the six human alpha-defensins.

PubMed ID: 15616305

DOI: 10.1128/aac.49.1.269-275.2005

PubMed ID: 25158166

Title: Molecular basis for self-assembly of a human host-defense peptide that entraps bacterial pathogens.

PubMed ID: 25158166

DOI: 10.1021/ja5057906

PubMed ID: 25354318

Title: Paneth cell alpha-defensin 6 (HD-6) is an antimicrobial peptide.

PubMed ID: 25354318

DOI: 10.1038/mi.2014.100

PubMed ID: 28026958

Title: Human alpha-Defensin 6 Self-Assembly Prevents Adhesion and Suppresses Virulence Traits of Candida albicans.

PubMed ID: 28026958

DOI: 10.1021/acs.biochem.6b01111

PubMed ID: 30808760

Title: Paneth cell alpha-defensins HD-5 and HD-6 display differential degradation into active antimicrobial fragments.

PubMed ID: 30808760

DOI: 10.1073/pnas.1817376116

PubMed ID: 17088326

Title: Crystal structures of human alpha-defensins HNP4, HD5, and HD6.

PubMed ID: 17088326

DOI: 10.1110/ps.062336606

PubMed ID: 22722251

Title: Human alpha-defensin 6 promotes mucosal innate immunity through self-assembled peptide nanonets.

PubMed ID: 22722251

DOI: 10.1126/science.1218831

Sequence Information:

  • Length: 100
  • Mass: 10975
  • Checksum: EDF77E033DDCE2D5
  • Sequence:
    • MRTLTILTAV LLVALQAKAE PLQAEDDPLQ AKAYEADAQE QRGANDQDFA VSFAEDASSS 
LRALGSTRAF TCHCRRSCYS TEYSYGTCTV MGINHRFCCL

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. For the full schema, download it here.