Details for: DEFA3

Gene ID: 1668

Symbol: DEFA3

Ensembl ID: ENSG00000239839

Description: defensin alpha 3

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: CD4-positive, alpha-beta thymocyte (CL0000810)
    Fold Change: 7.9997
    Cell Significance Index: 137.9100
  • Cell Name: CD8-positive, alpha-beta thymocyte (CL0000811)
    Fold Change: 5.9980
    Cell Significance Index: 55.5100
  • Cell Name: intrahepatic cholangiocyte (CL0002538)
    Fold Change: 1.8188
    Cell Significance Index: 6.8500
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 1.7157
    Cell Significance Index: 24.9100
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: 1.4493
    Cell Significance Index: 14.9500
  • Cell Name: central memory CD4-positive, alpha-beta T cell (CL0000904)
    Fold Change: 0.4002
    Cell Significance Index: 3.5000
  • Cell Name: epithelial cell of thymus (CL0002293)
    Fold Change: 0.3658
    Cell Significance Index: 2.8100
  • Cell Name: follicular B cell (CL0000843)
    Fold Change: 0.3009
    Cell Significance Index: 1.5100
  • Cell Name: immature alpha-beta T cell (CL0000790)
    Fold Change: 0.2914
    Cell Significance Index: 2.1700
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 0.1911
    Cell Significance Index: 3.2200
  • Cell Name: kidney loop of Henle epithelial cell (CL1000909)
    Fold Change: 0.1685
    Cell Significance Index: 1.5700
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.0922
    Cell Significance Index: 1.0900
  • Cell Name: renal intercalated cell (CL0005010)
    Fold Change: 0.0689
    Cell Significance Index: 0.5500
  • Cell Name: CD8-positive, alpha-beta cytokine secreting effector T cell (CL0000908)
    Fold Change: 0.0620
    Cell Significance Index: 0.6600
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 0.0600
    Cell Significance Index: 0.6500
  • Cell Name: granulocyte (CL0000094)
    Fold Change: 0.0572
    Cell Significance Index: 0.6900
  • Cell Name: radial glial cell (CL0000681)
    Fold Change: 0.0556
    Cell Significance Index: 0.3300
  • Cell Name: immature neutrophil (CL0000776)
    Fold Change: 0.0525
    Cell Significance Index: 0.4000
  • Cell Name: common lymphoid progenitor (CL0000051)
    Fold Change: 0.0305
    Cell Significance Index: 0.3100
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: 0.0256
    Cell Significance Index: 0.2900
  • Cell Name: thymocyte (CL0000893)
    Fold Change: 0.0214
    Cell Significance Index: 0.2700
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.0015
    Cell Significance Index: 0.1500
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0001
    Cell Significance Index: -0.0100
  • Cell Name: hematopoietic cell (CL0000988)
    Fold Change: -0.0021
    Cell Significance Index: -0.0300
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0030
    Cell Significance Index: -0.6000
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0050
    Cell Significance Index: -0.3800
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: -0.0070
    Cell Significance Index: -0.0900
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0097
    Cell Significance Index: -1.9300
  • Cell Name: caudal ganglionic eminence derived cortical interneuron (CL4023064)
    Fold Change: -0.0100
    Cell Significance Index: -0.2000
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.0114
    Cell Significance Index: -0.4200
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0124
    Cell Significance Index: -0.5800
  • Cell Name: myeloid leukocyte (CL0000766)
    Fold Change: -0.0130
    Cell Significance Index: -0.1100
  • Cell Name: IgA plasma cell (CL0000987)
    Fold Change: -0.0140
    Cell Significance Index: -0.0900
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.0150
    Cell Significance Index: -0.4900
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.0154
    Cell Significance Index: -0.2200
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.0160
    Cell Significance Index: -0.1800
  • Cell Name: endocrine cell (CL0000163)
    Fold Change: -0.0182
    Cell Significance Index: -0.2200
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -0.0192
    Cell Significance Index: -0.4800
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -0.0213
    Cell Significance Index: -0.5200
  • Cell Name: astrocyte (CL0000127)
    Fold Change: -0.0236
    Cell Significance Index: -0.2700
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: -0.0256
    Cell Significance Index: -0.3400
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.0258
    Cell Significance Index: -0.5400
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: -0.0272
    Cell Significance Index: -0.3500
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.0284
    Cell Significance Index: -0.4200
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.0302
    Cell Significance Index: -0.5900
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: -0.0304
    Cell Significance Index: -0.3600
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: -0.0313
    Cell Significance Index: -0.4500
  • Cell Name: helper T cell (CL0000912)
    Fold Change: -0.0317
    Cell Significance Index: -0.4500
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: -0.0328
    Cell Significance Index: -0.4600
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: -0.0334
    Cell Significance Index: -0.4800
  • Cell Name: type II muscle cell (CL0002212)
    Fold Change: -0.0335
    Cell Significance Index: -0.5400
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: -0.0336
    Cell Significance Index: -0.5100
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: -0.0354
    Cell Significance Index: -0.3700
  • Cell Name: basal cell (CL0000646)
    Fold Change: -0.0361
    Cell Significance Index: -0.4300
  • Cell Name: cytotoxic T cell (CL0000910)
    Fold Change: -0.0364
    Cell Significance Index: -0.5300
  • Cell Name: melanocyte of skin (CL1000458)
    Fold Change: -0.0378
    Cell Significance Index: -0.5300
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: -0.0385
    Cell Significance Index: -0.4600
  • Cell Name: tendon cell (CL0000388)
    Fold Change: -0.0397
    Cell Significance Index: -0.5400
  • Cell Name: ciliated epithelial cell (CL0000067)
    Fold Change: -0.0404
    Cell Significance Index: -0.4000
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: -0.0406
    Cell Significance Index: -0.5300
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: -0.0414
    Cell Significance Index: -0.4700
  • Cell Name: neural progenitor cell (CL0011020)
    Fold Change: -0.0414
    Cell Significance Index: -0.4100
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: -0.0420
    Cell Significance Index: -0.5200
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: -0.0424
    Cell Significance Index: -0.3900
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: -0.0428
    Cell Significance Index: -1.0900
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: -0.0428
    Cell Significance Index: -0.5200
  • Cell Name: inflammatory macrophage (CL0000863)
    Fold Change: -0.0429
    Cell Significance Index: -0.3300
  • Cell Name: adipocyte of breast (CL0002617)
    Fold Change: -0.0429
    Cell Significance Index: -0.5400
  • Cell Name: urothelial cell (CL0000731)
    Fold Change: -0.0430
    Cell Significance Index: -0.3000
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: -0.0438
    Cell Significance Index: -0.6000
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: -0.0438
    Cell Significance Index: -0.4900
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: -0.0438
    Cell Significance Index: -0.5900
  • Cell Name: goblet cell (CL0000160)
    Fold Change: -0.0453
    Cell Significance Index: -0.4100
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.0460
    Cell Significance Index: -0.5000
  • Cell Name: adipocyte of epicardial fat of left ventricle (CL1000311)
    Fold Change: -0.0465
    Cell Significance Index: -0.4900
  • Cell Name: microglial cell (CL0000129)
    Fold Change: -0.0468
    Cell Significance Index: -0.5500
  • Cell Name: neutrophil (CL0000775)
    Fold Change: -0.0488
    Cell Significance Index: -0.6100
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.0496
    Cell Significance Index: -1.3300
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: -0.0504
    Cell Significance Index: -0.5400
  • Cell Name: myelocyte (CL0002193)
    Fold Change: -0.0515
    Cell Significance Index: -0.5500
  • Cell Name: pulmonary capillary endothelial cell (CL4028001)
    Fold Change: -0.0518
    Cell Significance Index: -0.7100
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.0522
    Cell Significance Index: -0.7700
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: -0.0522
    Cell Significance Index: -0.8800
  • Cell Name: perineurial cell (CL0002576)
    Fold Change: -0.0523
    Cell Significance Index: -0.5400
  • Cell Name: erythroid progenitor cell (CL0000038)
    Fold Change: -0.0543
    Cell Significance Index: -0.7100
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: -0.0551
    Cell Significance Index: -0.6000
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0551
    Cell Significance Index: -1.4700
  • Cell Name: CD14-positive, CD16-low monocyte (CL0001055)
    Fold Change: -0.0551
    Cell Significance Index: -0.5300
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: -0.0552
    Cell Significance Index: -1.0200
  • Cell Name: large pre-B-II cell (CL0000957)
    Fold Change: -0.0553
    Cell Significance Index: -0.4800
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: -0.0560
    Cell Significance Index: -0.5400
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.0565
    Cell Significance Index: -1.6700
  • Cell Name: myeloid lineage restricted progenitor cell (CL0000839)
    Fold Change: -0.0566
    Cell Significance Index: -0.8000
  • Cell Name: basal cell of epithelium of trachea (CL1000348)
    Fold Change: -0.0570
    Cell Significance Index: -0.4900
  • Cell Name: mature neutrophil (CL0000096)
    Fold Change: -0.0574
    Cell Significance Index: -0.4700
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: -0.0577
    Cell Significance Index: -0.7400
  • Cell Name: tracheal goblet cell (CL1000329)
    Fold Change: -0.0581
    Cell Significance Index: -0.4800
  • Cell Name: monocyte (CL0000576)
    Fold Change: -0.0582
    Cell Significance Index: -0.6700
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: -0.0588
    Cell Significance Index: -0.6200
  • Cell Name: secretory cell (CL0000151)
    Fold Change: -0.0591
    Cell Significance Index: -0.4100

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:** DEFA3 exhibits several key characteristics that enable its antimicrobial function: 1. **Antimicrobial activity**: DEFA3 exhibits broad-spectrum antimicrobial activity against a range of pathogens, including bacteria, fungi, and viruses. 2. **Peptide structure**: DEFA3 is a 29-amino acid peptide with a unique structure, comprising three disulfide bonds that contribute to its stability and function. 3. **Cellular localization**: DEFA3 is primarily found in the azurophil granules of neutrophils, where it is released upon activation to combat invading pathogens. 4. **Expression profile**: DEFA3 is expressed in various cell types, including myelocytes, goblet cells, and professional antigen-presenting cells, highlighting its diverse roles in the immune system. **Pathways and Functions:** DEFA3 participates in several key pathways and functions: 1. **Antibacterial humoral response**: DEFA3 contributes to the innate immune response against bacterial infections by disrupting the bacterial cell membrane and inducing bacterial lysis. 2. **Antimicrobial humoral immune response mediated by antimicrobial peptide**: DEFA3 interacts with other antimicrobial peptides to form a complex that enhances its antimicrobial activity. 3. **Disruption of plasma membrane integrity in another organism**: DEFA3's ability to disrupt the plasma membrane of target cells enables it to induce cell death and eliminate pathogens. 4. **Killing of cells of another organism**: DEFA3's antimicrobial activity is essential for eliminating invading pathogens and protecting the host from infection. **Clinical Significance:** The DEFA3 gene's dysregulation has been implicated in various diseases, including: 1. **Neutropenia**: Deficiencies in DEFA3 have been linked to neutropenia, a condition characterized by abnormally low neutrophil counts, increasing the risk of infections. 2. **Autoimmune disorders**: Alterations in DEFA3 expression have been observed in autoimmune diseases, such as rheumatoid arthritis, suggesting a potential role in immune system dysregulation. 3. **Cancer**: DEFA3's antimicrobial activity has been proposed as a potential mechanism for cancer prevention, as its dysregulation may contribute to the development of certain cancers. In conclusion, DEFA3 is a vital component of the human immune system, playing a crucial role in the innate immune response against microbial infections. Further research on this gene and its functions will provide valuable insights into the development of novel therapeutic strategies for the treatment of diseases associated with DEFA3 dysregulation.

Genular Protein ID: 3306464183

Symbol: DEF3_HUMAN

Name: Neutrophil defensin 3

UniProtKB Accession Codes:

P59666 P11479 Q14125

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 1 EvolutionaryTrace 1 ExpressionAtlas 1 GO 17 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 HGNC 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 6 PDBsum 6 PIR 1 PIRSF 1 PRIDE 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 Pumba 1 RNAct 1 Reactome 2 RefSeq 1 SMART 2 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TopDownProteomics 1 TreeFam 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 3174637

Title: Isolation and characterization of human defensin cDNA clones.

PubMed ID: 3174637

DOI: 10.1073/pnas.85.19.7327

PubMed ID: 2918759

Title: Differentiation stage-specific expression of a gene during granulopoiesis.

PubMed ID: 2918759

PubMed ID: 8477861

Title: The structure of neutrophil defensin genes.

PubMed ID: 8477861

DOI: 10.1016/0014-5793(93)80122-b

PubMed ID: 8325384

Title:

PubMed ID: 8325384

DOI: 10.1016/0014-5793(93)81813-f

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: 4056036

Title: Primary structures of three human neutrophil defensins.

PubMed ID: 4056036

DOI: 10.1172/jci112121

PubMed ID: 2917986

Title: Determination of the disulfide array in the human defensin HNP-2. A covalently cyclized peptide.

PubMed ID: 2917986

DOI: 10.1016/s0021-9258(19)84952-9

PubMed ID: 1339298

Title: Posttranslational processing of defensins in immature human myeloid cells.

PubMed ID: 1339298

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: 15772169

Title: Human alpha-defensins neutralize anthrax lethal toxin and protect against its fatal consequences.

PubMed ID: 15772169

DOI: 10.1073/pnas.0500508102

PubMed ID: 17142766

Title: Human alpha- and beta-defensins block multiple steps in herpes simplex virus infection.

PubMed ID: 17142766

DOI: 10.4049/jimmunol.177.12.8658

PubMed ID: 18435932

Title: Human alpha-defensins inhibit Clostridium difficile toxin B.

PubMed ID: 18435932

DOI: 10.1053/j.gastro.2008.03.008

PubMed ID: 25963798

Title: alpha-Defensins partially protect human neutrophils against Panton-Valentine leukocidin produced by Staphylococcus aureus.

PubMed ID: 25963798

DOI: 10.1111/lam.12438

PubMed ID: 29282039

Title: Plasma levels of alarmin HNPs 1-3 associate with lung dysfunction after cardiac surgery in children.

PubMed ID: 29282039

DOI: 10.1186/s12890-017-0558-4

PubMed ID: 2006422

Title: Crystal structure of defensin HNP-3, an amphiphilic dimer: mechanisms of membrane permeabilization.

PubMed ID: 2006422

DOI: 10.1126/science.2006422

PubMed ID: 15894545

Title: Reconstruction of the conserved beta-bulge in mammalian defensins using D-amino acids.

PubMed ID: 15894545

DOI: 10.1074/jbc.m503084200

PubMed ID: 17452329

Title: Toward understanding the cationicity of defensins. Arg and Lys versus their noncoded analogs.

PubMed ID: 17452329

DOI: 10.1074/jbc.m611003200

Sequence Information:

  • Length: 94
  • Mass: 10245
  • Checksum: 0E0F8E957376C6AF
  • Sequence:
    • MRTLAILAAI LLVALQAQAE PLQARADEVA AAPEQIAADI PEVVVSLAWD ESLAPKHPGS 
RKNMDCYCRI PACIAGERRY GTCIYQGRLW AFCC

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.