Details for: DEFA4

Gene ID: 1669

Symbol: DEFA4

Ensembl ID: ENSG00000164821

Description: defensin alpha 4

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: 0.5627
    Cell Significance Index: 9.7000
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 0.1144
    Cell Significance Index: 1.7700
  • Cell Name: CD8-positive, alpha-beta thymocyte (CL0000811)
    Fold Change: 0.0378
    Cell Significance Index: 0.3500
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0025
    Cell Significance Index: -0.2800
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: -0.0095
    Cell Significance Index: -0.1600
  • Cell Name: neural progenitor cell (CL0011020)
    Fold Change: -0.0117
    Cell Significance Index: -0.1200
  • Cell Name: acinar cell (CL0000622)
    Fold Change: -0.0178
    Cell Significance Index: -0.2200
  • Cell Name: pulmonary capillary endothelial cell (CL4028001)
    Fold Change: -0.0195
    Cell Significance Index: -0.2700
  • Cell Name: granulocyte (CL0000094)
    Fold Change: -0.0323
    Cell Significance Index: -0.3900
  • Cell Name: pancreatic epsilon cell (CL0005019)
    Fold Change: -0.0329
    Cell Significance Index: -0.3000
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0349
    Cell Significance Index: -6.9200
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0428
    Cell Significance Index: -4.3700
  • Cell Name: muscle fibroblast (CL1001609)
    Fold Change: -0.0450
    Cell Significance Index: -0.2800
  • Cell Name: goblet cell (CL0000160)
    Fold Change: -0.0543
    Cell Significance Index: -0.4900
  • Cell Name: immature neutrophil (CL0000776)
    Fold Change: -0.0591
    Cell Significance Index: -0.4500
  • Cell Name: hematopoietic cell (CL0000988)
    Fold Change: -0.0916
    Cell Significance Index: -1.3400
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: -0.0971
    Cell Significance Index: -1.4100
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.1579
    Cell Significance Index: -5.5500
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.1687
    Cell Significance Index: -4.9700
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: -0.1730
    Cell Significance Index: -2.1400
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.1760
    Cell Significance Index: -4.7000
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: -0.1828
    Cell Significance Index: -2.1600
  • Cell Name: erythroid lineage cell (CL0000764)
    Fold Change: -0.1941
    Cell Significance Index: -2.1400
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: -0.1986
    Cell Significance Index: -5.0600
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.2052
    Cell Significance Index: -5.4000
  • Cell Name: erythroid progenitor cell (CL0000038)
    Fold Change: -0.2118
    Cell Significance Index: -2.7700
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.2119
    Cell Significance Index: -4.6400
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.2277
    Cell Significance Index: -6.5600
  • Cell Name: progenitor cell (CL0011026)
    Fold Change: -0.2287
    Cell Significance Index: -2.4300
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.2388
    Cell Significance Index: -6.4000
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.2418
    Cell Significance Index: -6.0500
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: -0.2465
    Cell Significance Index: -2.6500
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: -0.2581
    Cell Significance Index: -3.3400
  • Cell Name: neutrophil (CL0000775)
    Fold Change: -0.2630
    Cell Significance Index: -3.2900
  • Cell Name: leukocyte (CL0000738)
    Fold Change: -0.2667
    Cell Significance Index: -4.5300
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: -0.2772
    Cell Significance Index: -4.6700
  • Cell Name: mesothelial cell (CL0000077)
    Fold Change: -0.2797
    Cell Significance Index: -3.4000
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: -0.2875
    Cell Significance Index: -3.8200
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: -0.2890
    Cell Significance Index: -4.6800
  • Cell Name: monocyte (CL0000576)
    Fold Change: -0.2903
    Cell Significance Index: -3.3400
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: -0.2941
    Cell Significance Index: -3.4600
  • Cell Name: CD14-positive monocyte (CL0001054)
    Fold Change: -0.2987
    Cell Significance Index: -5.8400
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.3051
    Cell Significance Index: -6.6100
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: -0.3062
    Cell Significance Index: -5.6600
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: -0.3141
    Cell Significance Index: -5.3700
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.3155
    Cell Significance Index: -5.2800
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.3157
    Cell Significance Index: -4.6600
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: -0.3158
    Cell Significance Index: -4.3300
  • Cell Name: myeloid lineage restricted progenitor cell (CL0000839)
    Fold Change: -0.3213
    Cell Significance Index: -4.5100
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.3292
    Cell Significance Index: -4.8600
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: -0.3508
    Cell Significance Index: -5.9000
  • Cell Name: innate lymphoid cell (CL0001065)
    Fold Change: -0.3589
    Cell Significance Index: -4.6100
  • Cell Name: lymphocyte (CL0000542)
    Fold Change: -0.3594
    Cell Significance Index: -4.8900
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: -0.3650
    Cell Significance Index: -4.6800
  • Cell Name: fast muscle cell (CL0000190)
    Fold Change: -0.3726
    Cell Significance Index: -4.8800
  • Cell Name: thymocyte (CL0000893)
    Fold Change: -0.3759
    Cell Significance Index: -4.7500
  • Cell Name: plasmacytoid dendritic cell (CL0000784)
    Fold Change: -0.3772
    Cell Significance Index: -4.9500
  • Cell Name: fibroblast (CL0000057)
    Fold Change: -0.3803
    Cell Significance Index: -3.5700
  • Cell Name: neuroendocrine cell (CL0000165)
    Fold Change: -0.3822
    Cell Significance Index: -4.8400
  • Cell Name: T cell (CL0000084)
    Fold Change: -0.3845
    Cell Significance Index: -4.5400
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: -0.3876
    Cell Significance Index: -5.5600
  • Cell Name: mature NK T cell (CL0000814)
    Fold Change: -0.3882
    Cell Significance Index: -4.3800
  • Cell Name: erythroblast (CL0000765)
    Fold Change: -0.3908
    Cell Significance Index: -4.6600
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: -0.3909
    Cell Significance Index: -4.4300
  • Cell Name: basal cell (CL0000646)
    Fold Change: -0.3924
    Cell Significance Index: -4.6700
  • Cell Name: promyelocyte (CL0000836)
    Fold Change: -0.3966
    Cell Significance Index: -3.9200
  • Cell Name: conventional dendritic cell (CL0000990)
    Fold Change: -0.3969
    Cell Significance Index: -4.6900
  • Cell Name: cell of skeletal muscle (CL0000188)
    Fold Change: -0.3990
    Cell Significance Index: -5.1100
  • Cell Name: adipocyte (CL0000136)
    Fold Change: -0.4058
    Cell Significance Index: -5.4100
  • Cell Name: double negative thymocyte (CL0002489)
    Fold Change: -0.4132
    Cell Significance Index: -4.9100
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: -0.4134
    Cell Significance Index: -4.6200
  • Cell Name: promonocyte (CL0000559)
    Fold Change: -0.4138
    Cell Significance Index: -4.4200
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: -0.4227
    Cell Significance Index: -4.3600
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: -0.4248
    Cell Significance Index: -5.4400
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: -0.4261
    Cell Significance Index: -5.4000
  • Cell Name: pericyte (CL0000669)
    Fold Change: -0.4274
    Cell Significance Index: -5.1300
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: -0.4316
    Cell Significance Index: -4.5400
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: -0.4351
    Cell Significance Index: -5.4900
  • Cell Name: myelocyte (CL0002193)
    Fold Change: -0.4352
    Cell Significance Index: -4.6500
  • Cell Name: memory B cell (CL0000787)
    Fold Change: -0.4371
    Cell Significance Index: -4.6500
  • Cell Name: common dendritic progenitor (CL0001029)
    Fold Change: -0.4402
    Cell Significance Index: -4.5800
  • Cell Name: endothelial cell of lymphatic vessel (CL0002138)
    Fold Change: -0.4406
    Cell Significance Index: -5.3600
  • Cell Name: caudal ganglionic eminence derived cortical interneuron (CL4023064)
    Fold Change: -0.4418
    Cell Significance Index: -8.8100
  • Cell Name: myofibroblast cell (CL0000186)
    Fold Change: -0.4436
    Cell Significance Index: -4.6500
  • Cell Name: natural killer cell (CL0000623)
    Fold Change: -0.4487
    Cell Significance Index: -4.9700
  • Cell Name: glial cell (CL0000125)
    Fold Change: -0.4491
    Cell Significance Index: -4.9200
  • Cell Name: smooth muscle cell (CL0000192)
    Fold Change: -0.4510
    Cell Significance Index: -5.2400
  • Cell Name: CD8-positive, alpha-beta cytokine secreting effector T cell (CL0000908)
    Fold Change: -0.4530
    Cell Significance Index: -4.8200
  • Cell Name: B cell (CL0000236)
    Fold Change: -0.4561
    Cell Significance Index: -5.3900
  • Cell Name: medullary thymic epithelial cell (CL0002365)
    Fold Change: -0.4608
    Cell Significance Index: -5.0400
  • Cell Name: regulatory T cell (CL0000815)
    Fold Change: -0.4638
    Cell Significance Index: -5.3800
  • Cell Name: chondrocyte (CL0000138)
    Fold Change: -0.4642
    Cell Significance Index: -5.3500
  • Cell Name: neuron (CL0000540)
    Fold Change: -0.4652
    Cell Significance Index: -4.4100
  • Cell Name: double-positive, alpha-beta thymocyte (CL0000809)
    Fold Change: -0.4656
    Cell Significance Index: -5.0200
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: -0.4658
    Cell Significance Index: -6.4600
  • Cell Name: mast cell (CL0000097)
    Fold Change: -0.4685
    Cell Significance Index: -6.1700
  • Cell Name: capillary endothelial cell (CL0002144)
    Fold Change: -0.4736
    Cell Significance Index: -5.3800
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: -0.4747
    Cell Significance Index: -5.0900
  • Cell Name: mucosal invariant T cell (CL0000940)
    Fold Change: -0.4762
    Cell Significance Index: -5.4800
  • Cell Name: kidney loop of Henle epithelial cell (CL1000909)
    Fold Change: -0.4785
    Cell Significance Index: -4.4600

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:** Defensin alpha 4 is a member of the defensin family, which is characterized by its small size, high cysteine content, and ability to form homodimers. This peptide exhibits a broad spectrum of antimicrobial activity, including disruption of plasma membrane integrity, killing of cells, and inhibition of microbial growth. DEFA4 is primarily produced in the Golgi lumen and secreted into the extracellular space, where it interacts with microbial pathogens to induce an immune response. **Pathways and Functions:** The antimicrobial activity of DEFA4 is mediated through several pathways, including: 1. Disruption of plasma membrane integrity: DEFA4 can insert into microbial membranes, leading to changes in membrane fluidity, permeability, and ultimately, cell lysis. 2. Killing of cells: DEFA4 can interact with microbial surface components, triggering cell death through mechanisms involving reactive oxygen species production, mitochondrial disruption, and apoptosis. 3. Inhibition of microbial growth: DEFA4 can bind to microbial surface components, preventing adhesion, invasion, and colonization. 4. Activation of immune cells: DEFA4 can interact with pattern recognition receptors, such as Toll-like receptors, to activate immune cells and induce an inflammatory response. **Clinical Significance:** Dysregulation of DEFA4 has been implicated in various diseases, including: 1. Infections: Deficiencies in DEFA4 have been linked to increased susceptibility to infections, particularly those caused by gram-negative and gram-positive bacteria. 2. Autoimmune disorders: Altered expression of DEFA4 has been observed in autoimmune diseases, such as multiple sclerosis and rheumatoid arthritis. 3. Cancer: DEFA4 expression has been found to be altered in various types of cancer, including breast, lung, and colon cancer. 4. Neurological disorders: DEFA4 has been implicated in neurodegenerative diseases, such as Alzheimer's and Parkinson's disease. In conclusion, defensin alpha 4 is a crucial component of the innate immune response, playing a key role in antimicrobial, antifungal, and antibacterial humoral responses. Its dysregulation has been implicated in various diseases, highlighting the importance of DEFA4 in maintaining immune homeostasis and preventing disease.

Genular Protein ID: 4068092806

Symbol: DEF4_HUMAN

Name: N/A

UniProtKB Accession Codes:

P12838 Q6EZF8

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 7 Ensembl 2 EvolutionaryTrace 1 GO 19 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 3 PDBsum 3 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 3 RefSeq 1 SMART 2 SMR 1 STRING 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 8469233

Title: The gene encoding the human corticostatin HP-4 precursor contains a recent 86-base duplication and is located on chromosome 8.

PubMed ID: 8469233

DOI: 10.1210/mend.7.2.8469233

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: 2843187

Title: Structure of a novel human granulocyte peptide with anti-ACTH activity.

PubMed ID: 2843187

DOI: 10.1016/s0006-291x(88)81118-5

PubMed ID: 2500436

Title: Purification and characterization of human neutrophil peptide 4, a novel member of the defensin family.

PubMed ID: 2500436

DOI: 10.1016/s0021-9258(18)60449-1

PubMed ID: 2501794

Title: Antibiotic proteins of human polymorphonuclear leukocytes.

PubMed ID: 2501794

DOI: 10.1073/pnas.86.14.5610

PubMed ID: 15317502

Title: Synthesis and characterization of human alpha-defensins 4-6.

PubMed ID: 15317502

DOI: 10.1111/j.1399-3011.2004.00179.x

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: 15620707

Title: Human neutrophil alpha-defensin 4 inhibits HIV-1 infection in vitro.

PubMed ID: 15620707

DOI: 10.1016/j.febslet.2004.11.062

PubMed ID: 17088326

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

PubMed ID: 17088326

DOI: 10.1110/ps.062336606

PubMed ID: 30658057

Title: Systematic mutational analysis of human neutrophil alpha-defensin HNP4.

PubMed ID: 30658057

DOI: 10.1016/j.bbamem.2019.01.007

PubMed ID: 16959974

Title: The consensus coding sequences of human breast and colorectal cancers.

PubMed ID: 16959974

DOI: 10.1126/science.1133427

Sequence Information:

  • Length: 97
  • Mass: 10504
  • Checksum: FE14334631EC2FD3
  • Sequence:
    • MRIIALLAAI LLVALQVRAG PLQARGDEAP GQEQRGPEDQ DISISFAWDK SSALQVSGST 
RGMVCSCRLV FCRRTELRVG NCLIGGVSFT YCCTRVD

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.