Details for: DEFA5

Gene ID: 1670

Symbol: DEFA5

Ensembl ID: ENSG00000164816

Description: defensin alpha 5

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: blood vessel endothelial cell (CL0000071)
    Fold Change: 3.14
    Marker Score: 3157
  • Cell Name: enterocyte of colon (CL1000347)
    Fold Change: 2.21
    Marker Score: 3400
  • Cell Name: intestinal crypt stem cell (CL0002250)
    Fold Change: 1.85
    Marker Score: 698
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 1.3
    Marker Score: 1298
  • Cell Name: alpha-beta T cell (CL0000789)
    Fold Change: 1.23
    Marker Score: 934.5
  • Cell Name: naive T cell (CL0000898)
    Fold Change: 1.11
    Marker Score: 716
  • Cell Name: epithelial fate stem cell (CL0000036)
    Fold Change: 1.09
    Marker Score: 313
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71801
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48030
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30406
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.98
    Marker Score: 503
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.97
    Marker Score: 457
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2411
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 0.95
    Marker Score: 6302
  • Cell Name: intestine goblet cell (CL0019031)
    Fold Change: 0.94
    Marker Score: 901
  • Cell Name: plasma cell (CL0000786)
    Fold Change: 0.92
    Marker Score: 1033
  • Cell Name: paneth cell (CL0000510)
    Fold Change: 0.92
    Marker Score: 642
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.92
    Marker Score: 5248
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.92
    Marker Score: 2741
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 0.9
    Marker Score: 4316
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.9
    Marker Score: 323
  • Cell Name: intraepithelial lymphocyte (CL0002496)
    Fold Change: 0.88
    Marker Score: 980
  • Cell Name: lymphocyte (CL0000542)
    Fold Change: 0.88
    Marker Score: 444
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5284
  • Cell Name: type L enteroendocrine cell (CL0002279)
    Fold Change: 0.84
    Marker Score: 229
  • Cell Name: precursor cell (CL0011115)
    Fold Change: 0.8
    Marker Score: 193
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.78
    Marker Score: 312.5
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.77
    Marker Score: 1255
  • Cell Name: enterocyte of epithelium proper of ileum (CL1000342)
    Fold Change: 0.76
    Marker Score: 219
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.76
    Marker Score: 392
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.74
    Marker Score: 679
  • Cell Name: innate lymphoid cell (CL0001065)
    Fold Change: 0.73
    Marker Score: 263
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.71
    Marker Score: 456
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.68
    Marker Score: 2841
  • Cell Name: B cell (CL0000236)
    Fold Change: 0.67
    Marker Score: 636.5
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: 0.64
    Marker Score: 1028
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.59
    Marker Score: 272
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.55
    Marker Score: 442
  • Cell Name: large intestine goblet cell (CL1000320)
    Fold Change: 0.55
    Marker Score: 146
  • Cell Name: M cell of gut (CL0000682)
    Fold Change: 0.52
    Marker Score: 136
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.47
    Marker Score: 321
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.46
    Marker Score: 274
  • Cell Name: T cell (CL0000084)
    Fold Change: 0.44
    Marker Score: 750
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.41
    Marker Score: 296
  • Cell Name: neuroendocrine cell (CL0000165)
    Fold Change: 0.37
    Marker Score: 145
  • Cell Name: glial cell (CL0000125)
    Fold Change: 0.34
    Marker Score: 375
  • Cell Name: activated CD4-positive, alpha-beta T cell, human (CL0001043)
    Fold Change: 0.34
    Marker Score: 154
  • Cell Name: stem cell (CL0000034)
    Fold Change: 0.34
    Marker Score: 800
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.31
    Marker Score: 76
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.3
    Marker Score: 175.5
  • Cell Name: endothelial cell of artery (CL1000413)
    Fold Change: 0.3
    Marker Score: 125
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 0.3
    Marker Score: 85
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 0.3
    Marker Score: 265
  • Cell Name: IgA plasma cell (CL0000987)
    Fold Change: 0.29
    Marker Score: 251
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.28
    Marker Score: 117
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 0.26
    Marker Score: 82
  • Cell Name: pericyte (CL0000669)
    Fold Change: 0.25
    Marker Score: 146
  • Cell Name: natural T-regulatory cell (CL0000903)
    Fold Change: 0.24
    Marker Score: 125
  • Cell Name: T follicular helper cell (CL0002038)
    Fold Change: 0.24
    Marker Score: 199
  • Cell Name: naive B cell (CL0000788)
    Fold Change: 0.24
    Marker Score: 210
  • Cell Name: microglial cell (CL0000129)
    Fold Change: 0.23
    Marker Score: 426
  • Cell Name: enteroendocrine cell (CL0000164)
    Fold Change: 0.22
    Marker Score: 115
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.22
    Marker Score: 63
  • Cell Name: mononuclear phagocyte (CL0000113)
    Fold Change: 0.22
    Marker Score: 219
  • Cell Name: gamma-delta T cell (CL0000798)
    Fold Change: 0.21
    Marker Score: 144
  • Cell Name: fibroblast (CL0000057)
    Fold Change: 0.21
    Marker Score: 199
  • Cell Name: IgM plasma cell (CL0000986)
    Fold Change: 0.2
    Marker Score: 71
  • Cell Name: progenitor cell of endocrine pancreas (CL0002351)
    Fold Change: 0.2
    Marker Score: 44
  • Cell Name: NKp44-negative group 3 innate lymphoid cell, human (CL0001080)
    Fold Change: 0.2
    Marker Score: 44
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: 0.2
    Marker Score: 318
  • Cell Name: activated CD4-positive, alpha-beta T cell (CL0000896)
    Fold Change: 0.2
    Marker Score: 142
  • Cell Name: NKp44-positive group 3 innate lymphoid cell, human (CL0001079)
    Fold Change: 0.19
    Marker Score: 44
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.19
    Marker Score: 61
  • Cell Name: type EC enteroendocrine cell (CL0000577)
    Fold Change: 0.19
    Marker Score: 178
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.19
    Marker Score: 64
  • Cell Name: CD8-positive, alpha-beta memory T cell (CL0000909)
    Fold Change: 0.18
    Marker Score: 155
  • Cell Name: T-helper 17 cell (CL0000899)
    Fold Change: 0.18
    Marker Score: 119
  • Cell Name: IgG plasma cell (CL0000985)
    Fold Change: 0.18
    Marker Score: 79
  • Cell Name: memory B cell (CL0000787)
    Fold Change: 0.17
    Marker Score: 125
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 0.16
    Marker Score: 45
  • Cell Name: germinal center B cell (CL0000844)
    Fold Change: 0.16
    Marker Score: 98
  • Cell Name: naive thymus-derived CD4-positive, alpha-beta T cell (CL0000895)
    Fold Change: 0.16
    Marker Score: 275
  • Cell Name: endothelial cell of lymphatic vessel (CL0002138)
    Fold Change: 0.16
    Marker Score: 100
  • Cell Name: dendritic cell (CL0000451)
    Fold Change: 0.15
    Marker Score: 106
  • Cell Name: activated CD8-positive, alpha-beta T cell (CL0000906)
    Fold Change: 0.15
    Marker Score: 112
  • Cell Name: CD4-positive, alpha-beta T cell (CL0000624)
    Fold Change: 0.15
    Marker Score: 340
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.14
    Marker Score: 45
  • Cell Name: ionocyte (CL0005006)
    Fold Change: 0.14
    Marker Score: 43
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.14
    Marker Score: 45
  • Cell Name: inflammatory macrophage (CL0000863)
    Fold Change: 0.14
    Marker Score: 42
  • Cell Name: effector memory CD4-positive, alpha-beta T cell (CL0000905)
    Fold Change: 0.13
    Marker Score: 97
  • Cell Name: conventional dendritic cell (CL0000990)
    Fold Change: 0.13
    Marker Score: 89
  • Cell Name: epithelial cell of thymus (CL0002293)
    Fold Change: 0.13
    Marker Score: 41
  • Cell Name: CD8-positive, alpha-beta T cell (CL0000625)
    Fold Change: 0.13
    Marker Score: 208
  • Cell Name: immature neutrophil (CL0000776)
    Fold Change: 0.13
    Marker Score: 43
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.13
    Marker Score: 30
  • Cell Name: vein endothelial cell (CL0002543)
    Fold Change: 0.12
    Marker Score: 111
  • Cell Name: interstitial cell of Cajal (CL0002088)
    Fold Change: 0.12
    Marker Score: 42
  • Cell Name: podocyte (CL0000653)
    Fold Change: 0.12
    Marker Score: 44
  • Cell Name: plasmacytoid dendritic cell (CL0000784)
    Fold Change: 0.12
    Marker Score: 63

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Other Information

**Key characteristics:** * The DEFA5 gene is located on chromosome 19p13.2. * It is a large gene with a complex structure that includes multiple exons and intron regions. * The protein encoded by DEFA5 is a transmembrane protein that is expressed in various cell types. * It is a key player in the defense against bacterial, fungal, and viral infections. **Pathways and functions:** * DEFA5 is involved in the innate immune response against a variety of pathogens, including bacteria, fungi, and viruses. * It is expressed in blood vessel endothelial cells, enterocytes of the colon, intestinal crypt stem cells, and epithelial cells of the large intestine. * Upon infection, DEFA5 is produced by these cells and is transported to the site of infection. * Once there, it binds to specific receptors on pathogens, triggering a cascade of events that lead to the activation of immune cells. * Defensins are potent antimicrobial peptides that can kill pathogens by disrupting their cellular structure and disrupting their ability to multiply. **Clinical significance:** * Mutations in the DEFA5 gene have been linked to the development of immune deficiencies, including recurrent infections and autoimmune disorders. * Defensins are currently being investigated as potential therapeutic agents for a variety of bacterial, fungal, and viral infections. * In particular, DEF5 has been shown to be effective in protecting mice from infection with a variety of pathogens, including Salmonella typhimurium, Staphylococcus aureus, and influenza virus. **Additional notes:** * The expression of DEFA5 is regulated by a variety of factors, including cytokines, growth factors, and the immune system. * Defensins can also have non-immunological effects, such as promoting wound healing and protecting against cancer.

Genular Protein ID: 3016671351

Symbol: DEF5_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q01523 A0JDY6 Q3KNV2

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BMRB 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 5 Ensembl 2 EvolutionaryTrace 1 GO 23 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 HGNC 2 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 25 PDBsum 12 PIR 1 PIRSF 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 Reactome 2 RefSeq 1 SMART 2 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 1429669

Title: Paneth cells of the human small intestine express an antimicrobial peptide gene.

PubMed ID: 1429669

DOI: 10.1016/s0021-9258(18)50079-x

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: 12021776

Title: Paneth cell trypsin is the processing enzyme for human defensin-5.

PubMed ID: 12021776

DOI: 10.1038/ni797

PubMed ID: 9588893

Title: Gene expression, immunolocalization, and secretion of human defensin-5 in human female reproductive tract.

PubMed ID: 9588893

PubMed ID: 12660734

Title: Protection against enteric salmonellosis in transgenic mice expressing a human intestinal defensin.

PubMed ID: 12660734

DOI: 10.1038/nature01520

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: 22359618

Title: Human alpha defensin 5 expression in the human kidney and urinary tract.

PubMed ID: 22359618

DOI: 10.1371/journal.pone.0031712

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: 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: 19589339

Title: Selective arginines are important for the antibacterial activity and host cell interaction of human alpha-defensin 5.

PubMed ID: 19589339

DOI: 10.1016/j.febslet.2009.06.051

PubMed ID: 23163963

Title: NMR solution structure and condition-dependent oligomerization of the antimicrobial peptide human defensin 5.

PubMed ID: 23163963

DOI: 10.1021/bi301255u

PubMed ID: 22573326

Title: Functional determinants of human enteric alpha-defensin HD5: crucial role for hydrophobicity at dimer interface.

PubMed ID: 22573326

DOI: 10.1074/jbc.m112.367995

PubMed ID: 25782105

Title: Design of a potent antibiotic peptide based on the active region of human defensin 5.

PubMed ID: 25782105

DOI: 10.1021/jm501824a

PubMed ID: 29858013

Title: Human Enteric alpha-Defensin 5 Promotes Shigella Infection by Enhancing Bacterial Adhesion and Invasion.

PubMed ID: 29858013

DOI: 10.1016/j.immuni.2018.04.014

Sequence Information:

  • Length: 94
  • Mass: 10071
  • Checksum: 19B5B00B6BAF90DA
  • Sequence:
    • MRTIAILAAI LLVALQAQAE SLQERADEAT TQKQSGEDNQ DLAISFAGNG LSALRTSGSQ 
ARATCYCRTG RCATRESLSG VCEISGRLYR LCCR

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.