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Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Members of the defensin family are highly similar in protein sequence. This gene encodes defensin, beta 4, an antibiotic peptide which is locally regulated by inflammation. [provided by RefSeq, Jul 2008] See more...
Aliases for DEFB4A Gene
Aliases for DEFB4A Gene
External Ids for DEFB4A Gene
- HGNC: 2767
- Entrez Gene: 1673
- Ensembl: ENSG00000171711
- OMIM: 602215
- UniProtKB: O15263
Previous HGNC Symbols for DEFB4A Gene
- DEFB102
- DEFB2
- DEFB4
Previous GeneCards Identifiers for DEFB4A Gene
- GC08P007752
Summaries for DEFB4A Gene
-
Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Members of the defensin family are highly similar in protein sequence. This gene encodes defensin, beta 4, an antibiotic peptide which is locally regulated by inflammation. [provided by RefSeq, Jul 2008]
GeneCards Summary for DEFB4A Gene
DEFB4A (Defensin Beta 4A) is a Protein Coding gene. Diseases associated with DEFB4A include Oral Candidiasis and Bacterial Pneumonia. Among its related pathways are Defensins and Innate Immune System. An important paralog of this gene is DEFB4B.
UniProtKB/Swiss-Prot Summary for DEFB4A Gene
-
Exhibits antimicrobial activity against Gram-negative bacteria and Gram-positive bacteria. May act as a ligand for C-C chemokine receptor CCR6. Can bind to both human and mouse CCR6 and induce chemotactic activity of CCR6-expressing cells (PubMed:20068036).
Additional gene information for DEFB4A Gene
- HGNC(2767)
- Entrez Gene(1673)
- Ensembl(ENSG00000171711)
- OMIM(602215)
- UniProtKB(O15263)
- Open Targets Platform(ENSG00000171711)
- Search for DEFB4A at DataMed
- Search for DEFB4A at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DEFB4A Gene
Genomics for DEFB4A Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for DEFB4A Gene
| GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
|---|---|---|---|---|---|---|---|---|---|---|
| GH08J007894 | Promoter | 0.3 | EPDnew | 600.7 | 0.0 | -19 | 0.1 | DEFB4A HSPD1P2 DEFB103A | ||
| GH08J007913 | Enhancer | 0.8 | Ensembl dbSUPER | 0.4 | +18.7 | 18724 | 1.6 | REST RAD21 TRIM22 CTCF ZNF600 ZSCAN5C ESRRA ZBTB17 SMC3 ZNF654 | piR-41695-002 piR-32559-428 ZNF705B DEFB4A | |
| GH08J007901 | Enhancer | 0.4 | Ensembl dbSUPER | 0.4 | +8.2 | 8241 | 1 | ZNF585B | piR-30444-309 piR-32559-427 piR-37567-213 FAM90A11P DEFB4A ZNF705B | |
| GH08J007903 | Enhancer | 0.3 | Ensembl dbSUPER | 0.4 | +9.1 | 9081 | 0.5 | MG598800-033 piR-30444-309 piR-32559-427 piR-37567-213 DEFB4A ZNF705B | ||
| GH08J007915 | Enhancer | 0.3 | Ensembl dbSUPER | 0.4 | +22.2 | 22224 | 3.4 | L13714-425 piR-38716-153 ZNF705B DEFB4A |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around DEFB4A on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DEFB4A
Genomic Locations for DEFB4A Gene
Genomic Locations for DEFB4A Gene
- chr8:7,894,677-7,896,716
- (GRCh38/hg38)
- Size:
- 2,040 bases
- Orientation:
- Plus strand
- chr8:7,752,151-7,754,237
- (GRCh37/hg19)
- Size:
- 2,087 bases
- Orientation:
- Plus strand
Genomic View for DEFB4A Gene
Genes around DEFB4A on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 8p23.1 by HGNC
- 8p23.1 by Entrez Gene
- 8p23.1 by Ensembl
DEFB4A Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for DEFB4A Gene
Proteins for DEFB4A Gene
-
Protein details for DEFB4A Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- O15263-DFB4A_HUMAN
- Recommended name:
- Beta-defensin 4A
- Protein Accession:
- O15263
- Q52LC0
Protein attributes for DEFB4A Gene
- Size:
- 64 amino acids
- Molecular mass:
- 7038 Da
- Quaternary structure:
- No Data Available
Protein Expression for DEFB4A Gene
Post-translational modifications for DEFB4A Gene
No Post-translational modifications
Other Protein References for DEFB4A Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
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-
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-
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No data available for DME Specific Peptides for DEFB4A Gene
Domains & Families for DEFB4A Gene
Gene Families for DEFB4A Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted secreted proteins
- Transporters
Protein Domains for DEFB4A Gene
- InterPro:
- Blocks:
-
- Beta defensin
- ProtoNet:
Graphical View of Domain Structure for InterPro Entry
O15263- Family:
-
- Belongs to the beta-defensin family. LAP/TAP subfamily.
No data available for Suggested Antigen Peptide Sequences for DEFB4A Gene
Function for DEFB4A Gene
Molecular function for DEFB4A Gene
- UniProtKB/Swiss-Prot Function:
- Exhibits antimicrobial activity against Gram-negative bacteria and Gram-positive bacteria. May act as a ligand for C-C chemokine receptor CCR6. Can bind to both human and mouse CCR6 and induce chemotactic activity of CCR6-expressing cells (PubMed:20068036).
- UniProtKB/Swiss-Prot Induction:
- By inflammation.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 20068036 |
| GO:0031731 | CCR6 chemokine receptor binding | IBA,IDA | 20068036 |
| GO:0042056 | chemoattractant activity | IBA | 21873635 |
Phenotypes for DEFB4A Gene
Animal Model Products
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miRNA for DEFB4A Gene
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No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for DEFB4A Gene
Localization for DEFB4A Gene
Subcellular locations from UniProtKB/Swiss-Prot for DEFB4A Gene
- Secreted.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| golgi apparatus | 4 |
| plasma membrane | 2 |
| cytoskeleton | 2 |
| nucleus | 2 |
| endosome | 2 |
| cytosol | 2 |
| lysosome | 2 |
| mitochondrion | 1 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005576 | extracellular region | TAS | -- |
| GO:0005615 | extracellular space | IBA,IDA | 9727055 |
| GO:0005796 | Golgi lumen | TAS | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for DEFB4A Gene
Pathways & Interactions for DEFB4A Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Defensins |
.81
.81
|
|
| 2 | Innate Immune System |
.61
|
|
| 3 | Bacterial infections in CF airways |
Bacterial infections in CF airways
.78
|
Immune response Bacterial infections in normal airways
.78
|
| 4 | IL-17 Family Signaling Pathways | ||
| 5 | NOD-like receptor signaling pathway | ||
Pathways by source for DEFB4A Gene
5 Reactome pathways for DEFB4A Gene
3 KEGG pathways for DEFB4A Gene
2 GeneGo (Thomson Reuters) pathways for DEFB4A Gene
- Bacterial infections in CF airways
- Immune response Bacterial infections in normal airways
Interacting Proteins for DEFB4A Gene
GPS-Prot Interaction Network for DEFB4A
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006935 | chemotaxis | IBA,IDA | 20068036 |
| GO:0006952 | defense response | IEA | -- |
| GO:0006955 | immune response | TAS | 10521347 |
| GO:0007186 | G protein-coupled receptor signaling pathway | TAS | 10521347 |
| GO:0019730 | antimicrobial humoral response | TAS | -- |
No data available for SIGNOR curated interactions for DEFB4A Gene
Drugs & Compounds for DEFB4A Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
Drug Products
- Creative Biomart Recombinant Human Beta-Defensin 2
Transcripts for DEFB4A Gene
mRNA/cDNA for DEFB4A Gene
- 1 REFSEQ mRNAs :
- 6 NCBI additional mRNA sequence :
- 1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000302247 337 nts (view in UCSC)
CRISPR Products
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-
- MG220128
- MG222346
- MR220128
- MR220128L3
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- MR222346L4
- RC219487
- RC219487L1
- RC219487L2
- RC219487L3
- RC219487L4
- RG219487
- RR213986
- RR213986L3
- RR213986L4
- RR215161
- RR215161L3
- RR215161L4
- MR220128L3V
- MR220128L4V
- MR222346L3V
- MR222346L4V
- RC219487L1V
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- RR213986L3V
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- RR215161L3V
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Relevant External Links for DEFB4A Gene
- GeneLoc Exon Structure for
- DEFB4A
Expression for DEFB4A Gene
mRNA differential expression in normal tissues according to GTEx for DEFB4A Gene
This gene is overexpressed in Esophagus - Mucosa (x31.2) and Minor Salivary Gland (x13.4).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for DEFB4A Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DEFB4A
SOURCE GeneReport for Unigene cluster for DEFB4A Gene:
Hs.105924mRNA Expression by UniProt/SwissProt for DEFB4A Gene:
O15263-DFB4A_HUMAN
Tissue specificity:
Expressed in the skin and respiratory tract.
Evidence on tissue expression from TISSUES for DEFB4A Gene
- Skin(4.5)
- Nervous system(4.3)
- Blood(2.7)
- Lung(2.5)
- Intestine(2.5)
- Spleen(2.4)
- Lymph node(2.4)
- Saliva(2.2)
Primer Products
-
OriGene qPCR primer pairs for DEFB4A
-
OriGene qPCR primer pairs and template standards for DEFB4A
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for DEFB4A Gene
Orthologs for DEFB4A Gene
This gene was present in the common ancestor of human and chimp.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | DEFB4A 31 |
|
OneToMany |
- Species where no ortholog for DEFB4A was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chicken (Gallus gallus)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- Cow (Bos Taurus)
- Dog (Canis familiaris)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Fruit Fly (Drosophila melanogaster)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Lizard (Anolis carolinensis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Mouse (Mus musculus)
- Oppossum (Monodelphis domestica)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Platypus (Ornithorhynchus anatinus)
- Rainbow Trout (Oncorhynchus mykiss)
- Rat (Rattus norvegicus)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Squirt (Ciona savignyi)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Tropical Clawed Frog (Silurana tropicalis)
- Wheat (Triticum aestivum)
- Worm (Caenorhabditis elegans)
- Zebrafish (Danio rerio)
Paralogs for DEFB4A Gene
Variants for DEFB4A Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DEFB4A Gene
| SNP ID | Clinical significance and condition | Chr 08 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 773220 | Benign: not provided | 7,894,760(+) | G/A | MISSENSE_VARIANT |
Gene Damage Index Score:
0.07;
1.59% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for DEFB4A Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DEFB4A Gene
Disorders for DEFB4A Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| oral candidiasis |
|
|
| bacterial pneumonia |
|
|
| tinea corporis |
|
|
| dermatophytosis |
|
|
| cholesteatoma of middle ear |
|
Search DEFB4A in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for DEFB4A
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for DEFB4A Gene
Publications for DEFB4A Gene
- Specific binding and chemotactic activity of mBD4 and its functional orthologue hBD2 to CCR6-expressing cells. (PMID: 20068036) Röhrl J … Hehlgans T (The Journal of biological chemistry 2010) 3 4 23
- Chemical synthesis of beta-defensins and LEAP-1/hepcidin. (PMID: 12010514) Klüver E … Adermann K (The journal of peptide research : official journal of the American Peptide Society 2002) 3 4 23
- Structure determination of human and murine beta-defensins reveals structural conservation in the absence of significant sequence similarity. (PMID: 11714914) Bauer F … Sticht H (Protein science : a publication of the Protein Society 2001) 3 4 23
- Mucoid Pseudomonas aeruginosa, TNF-alpha, and IL-1beta, but not IL-6, induce human beta-defensin-2 in respiratory epithelia. (PMID: 10837369) Harder J … Schröder JM (American journal of respiratory cell and molecular biology 2000) 3 4 23
- The structure of human beta-defensin-2 shows evidence of higher order oligomerization. (PMID: 10906336) Hoover DM … Lubkowski J (The Journal of biological chemistry 2000) 3 4 23
ExternalLinks
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Sources for DEFB4A Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
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