Details for: DEFA6

Gene ID: 1671

Symbol: DEFA6

Ensembl ID: ENSG00000164822

Description: defensin alpha 6

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: neuroendocrine cell (CL0000165)
    Fold Change: 24.4692
    Cell Significance Index: 309.8900
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 21.4300
    Cell Significance Index: -14.3800
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 14.1831
    Cell Significance Index: 212.5200
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 5.6815
    Cell Significance Index: -15.2200
  • Cell Name: tuft cell of small intestine (CL0009080)
    Fold Change: 4.2804
    Cell Significance Index: 43.1800
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: 2.6199
    Cell Significance Index: 39.4800
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 2.2245
    Cell Significance Index: 55.4900
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.8455
    Cell Significance Index: 182.5700
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 1.7647
    Cell Significance Index: 36.8300
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 1.7621
    Cell Significance Index: 50.7700
  • Cell Name: precursor cell (CL0011115)
    Fold Change: 1.7599
    Cell Significance Index: 13.3500
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.4709
    Cell Significance Index: 51.5300
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 1.4578
    Cell Significance Index: 36.4400
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 1.1308
    Cell Significance Index: 18.3200
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.9856
    Cell Significance Index: 107.2000
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.9520
    Cell Significance Index: 154.8400
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.8485
    Cell Significance Index: 50.9400
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.8266
    Cell Significance Index: 16.8200
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.7299
    Cell Significance Index: 138.9100
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.7118
    Cell Significance Index: 642.6800
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.7018
    Cell Significance Index: 24.6600
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.6421
    Cell Significance Index: 13.3200
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 0.5466
    Cell Significance Index: 17.4100
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.5217
    Cell Significance Index: 36.0800
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 0.4234
    Cell Significance Index: 6.3400
  • Cell Name: intestinal crypt stem cell (CL0002250)
    Fold Change: 0.4107
    Cell Significance Index: 2.8900
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.2891
    Cell Significance Index: 3.9700
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.1578
    Cell Significance Index: 3.3600
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 0.0715
    Cell Significance Index: 0.8600
  • Cell Name: urothelial cell (CL0000731)
    Fold Change: -0.0125
    Cell Significance Index: -0.0900
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0171
    Cell Significance Index: -12.6800
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0216
    Cell Significance Index: -12.1900
  • Cell Name: neural cell (CL0002319)
    Fold Change: -0.0260
    Cell Significance Index: -0.3000
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0321
    Cell Significance Index: -6.3700
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.0407
    Cell Significance Index: -0.8500
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0492
    Cell Significance Index: -9.8700
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.0521
    Cell Significance Index: -1.6700
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: -0.0539
    Cell Significance Index: -1.0600
  • Cell Name: helper T cell (CL0000912)
    Fold Change: -0.0711
    Cell Significance Index: -1.0100
  • Cell Name: mucous neck cell (CL0000651)
    Fold Change: -0.0798
    Cell Significance Index: -0.3800
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.1028
    Cell Significance Index: -4.6600
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1064
    Cell Significance Index: -12.2000
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.1212
    Cell Significance Index: -7.4300
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: -0.1311
    Cell Significance Index: -0.8600
  • Cell Name: paneth cell (CL0000510)
    Fold Change: -0.1508
    Cell Significance Index: -1.5600
  • Cell Name: lung macrophage (CL1001603)
    Fold Change: -0.1567
    Cell Significance Index: -1.7100
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.1570
    Cell Significance Index: -5.1400
  • Cell Name: pulmonary artery endothelial cell (CL1001568)
    Fold Change: -0.1571
    Cell Significance Index: -1.6800
  • Cell Name: pulmonary capillary endothelial cell (CL4028001)
    Fold Change: -0.2009
    Cell Significance Index: -2.7500
  • Cell Name: memory T cell (CL0000813)
    Fold Change: -0.2015
    Cell Significance Index: -1.6700
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: -0.2178
    Cell Significance Index: -3.7700
  • Cell Name: peptic cell (CL0000155)
    Fold Change: -0.2419
    Cell Significance Index: -2.1500
  • Cell Name: blood vessel endothelial cell (CL0000071)
    Fold Change: -0.2504
    Cell Significance Index: -2.7200
  • Cell Name: CD141-positive myeloid dendritic cell (CL0002394)
    Fold Change: -0.2511
    Cell Significance Index: -2.7200
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.2577
    Cell Significance Index: -14.4600
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.2634
    Cell Significance Index: -5.6900
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.2723
    Cell Significance Index: -5.7800
  • Cell Name: CD1c-positive myeloid dendritic cell (CL0002399)
    Fold Change: -0.2723
    Cell Significance Index: -2.8200
  • Cell Name: suprabasal keratinocyte (CL4033013)
    Fold Change: -0.2730
    Cell Significance Index: -4.3900
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: -0.2793
    Cell Significance Index: -2.8900
  • Cell Name: microglial cell (CL0000129)
    Fold Change: -0.2798
    Cell Significance Index: -3.2900
  • Cell Name: naive thymus-derived CD4-positive, alpha-beta T cell (CL0000895)
    Fold Change: -0.2978
    Cell Significance Index: -2.5700
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -0.3067
    Cell Significance Index: -7.6600
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: -0.3078
    Cell Significance Index: -4.6800
  • Cell Name: cytotoxic T cell (CL0000910)
    Fold Change: -0.3177
    Cell Significance Index: -4.6300
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: -0.3340
    Cell Significance Index: -5.7100
  • Cell Name: melanocyte of skin (CL1000458)
    Fold Change: -0.3439
    Cell Significance Index: -4.8200
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: -0.3508
    Cell Significance Index: -3.7000
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: -0.3583
    Cell Significance Index: -9.1300
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.3626
    Cell Significance Index: -7.1700
  • Cell Name: basal-myoepithelial cell of mammary gland (CL0002324)
    Fold Change: -0.3822
    Cell Significance Index: -2.8300
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.3923
    Cell Significance Index: -8.5000
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.4572
    Cell Significance Index: -11.6800
  • Cell Name: endothelial cell of vascular tree (CL0002139)
    Fold Change: -0.4617
    Cell Significance Index: -6.3400
  • Cell Name: caudal ganglionic eminence derived cortical interneuron (CL4023064)
    Fold Change: -0.4649
    Cell Significance Index: -9.2700
  • Cell Name: CD8-positive, alpha-beta memory T cell (CL0000909)
    Fold Change: -0.4691
    Cell Significance Index: -4.7600
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.4697
    Cell Significance Index: -4.8600
  • Cell Name: endothelial cell of uterus (CL0009095)
    Fold Change: -0.4775
    Cell Significance Index: -2.9900
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.4842
    Cell Significance Index: -9.7200
  • Cell Name: basal cell (CL0000646)
    Fold Change: -0.4899
    Cell Significance Index: -5.8300
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: -0.4949
    Cell Significance Index: -2.9900
  • Cell Name: CD8-positive, alpha-beta memory T cell, CD45RO-positive (CL0001203)
    Fold Change: -0.5168
    Cell Significance Index: -5.3600
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.5348
    Cell Significance Index: -11.7100
  • Cell Name: progenitor cell (CL0011026)
    Fold Change: -0.5403
    Cell Significance Index: -5.7400
  • Cell Name: thymocyte (CL0000893)
    Fold Change: -0.5722
    Cell Significance Index: -7.2300
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.5967
    Cell Significance Index: -8.8100
  • Cell Name: enterocyte (CL0000584)
    Fold Change: -0.6020
    Cell Significance Index: -3.7400
  • Cell Name: Schwann cell (CL0002573)
    Fold Change: -0.6154
    Cell Significance Index: -6.8900
  • Cell Name: chondrocyte (CL0000138)
    Fold Change: -0.6221
    Cell Significance Index: -7.1700
  • Cell Name: embryonic fibroblast (CL2000042)
    Fold Change: -0.6250
    Cell Significance Index: -2.9900
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: -0.6515
    Cell Significance Index: -8.4300
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: -0.6583
    Cell Significance Index: -4.3700
  • Cell Name: P/D1 enteroendocrine cell (CL0002268)
    Fold Change: -0.6660
    Cell Significance Index: -7.4500
  • Cell Name: epithelial cell of lung (CL0000082)
    Fold Change: -0.6782
    Cell Significance Index: -6.3800
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.6797
    Cell Significance Index: -11.3800
  • Cell Name: CD4-positive helper T cell (CL0000492)
    Fold Change: -0.6800
    Cell Significance Index: -6.8700
  • Cell Name: pericyte (CL0000669)
    Fold Change: -0.7038
    Cell Significance Index: -8.4400
  • Cell Name: plasmacytoid dendritic cell (CL0000784)
    Fold Change: -0.7300
    Cell Significance Index: -9.5800
  • Cell Name: conventional dendritic cell (CL0000990)
    Fold Change: -0.7498
    Cell Significance Index: -8.8600
  • Cell Name: CD14-positive monocyte (CL0001054)
    Fold Change: -0.7544
    Cell Significance Index: -14.7500

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** DEFA6 is a small, cationic peptide with a molecular weight of approximately 4 kDa. It belongs to the alpha-defensin family, which is characterized by its alpha-helical structure and positively charged amino acid residues. DEFA6 is highly expressed in cells of the innate immune system, including neutrophils, macrophages, and epithelial cells. Its expression is significantly upregulated in response to bacterial and fungal infections, suggesting a rapid and efficient response to pathogens. **Pathways and Functions** DEFA6 exhibits a range of functional activities, including: 1. **Antimicrobial activity**: DEFA6 has been shown to exhibit potent antimicrobial activity against a range of pathogens, including bacteria, fungi, and viruses. 2. **Cell membrane disruption**: DEFA6 can disrupt the plasma membrane of target cells, leading to cell lysis and death. 3. **Inflammation modulation**: DEFA6 can modulate the inflammatory response by regulating the production of pro-inflammatory cytokines. 4. **Antibacterial humoral response**: DEFA6 is involved in the humoral immune response against bacteria, where it can bind to bacterial surfaces and induce a rapid immune response. **Pathways** DEFA6 is involved in various signaling pathways, including: 1. **Alpha-defensin signaling pathway**: DEFA6 activates the alpha-defensin signaling pathway, which regulates the expression of antimicrobial genes. 2. **NLRP3 inflammasome pathway**: DEFA6 can activate the NLRP3 inflammasome, a multiprotein complex that regulates the production of pro-inflammatory cytokines. 3. **Toll-like receptor signaling pathway**: DEFA6 can interact with Toll-like receptors, which recognize pathogen-associated molecular patterns (PAMPs) and trigger an immune response. **Clinical Significance** DEFA6 has significant clinical implications, particularly in the context of immune system disorders and infections. Dysregulation of DEFA6 expression has been implicated in various diseases, including: 1. **Cystic fibrosis**: DEFA6 is significantly reduced in cystic fibrosis patients, which contributes to the development of chronic lung infections. 2. **Inflammatory bowel disease**: DEFA6 is downregulated in patients with inflammatory bowel disease, which may contribute to the development of chronic inflammation. 3. **Antimicrobial resistance**: DEFA6 may play a role in the development of antimicrobial resistance, as its disruption can lead to the selection of resistant bacterial strains. In conclusion, DEFA6 is a crucial component of the innate immune response, particularly in the defense against pathogens and foreign substances. Its expression patterns and functional roles highlight its importance in mucosal immunity, and its dysregulation has significant clinical implications in various diseases. Further research is needed to fully elucidate the mechanisms of DEFA6 and its role in immune system disorders.

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 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 2 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. 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.