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

  • Defensin Beta 4A 2 3 5
  • Defensin, Beta 2 2 3 4
  • HBD-2 2 3 4
  • SAP1 2 3 4
  • Skin-Antimicrobial Peptide 1 3 4
  • Defensin, Beta 4 2 3
  • Beta-Defensin 4A 3 4
  • Beta Defensin-2 2 3
  • Beta-Defensin 2 2 4
  • DEFB102 3 4
  • DEFB-2 2 3
  • DEFB2 3 4
  • DEFB4 3 4
  • BD-2 3 4
  • Defensin, Beta 4A 2
  • Beta Defensin 2 2
  • DEFB4A 5

External Ids for DEFB4A Gene

Previous HGNC Symbols for DEFB4A Gene

  • DEFB102
  • DEFB2
  • DEFB4

Previous GeneCards Identifiers for DEFB4A Gene

  • GC08P007752

Summaries for DEFB4A Gene

Entrez Gene Summary 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 Urethritis. Among its related pathways are Bacterial infections in CF airways and Defensins. 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).

Gene Wiki entry for DEFB4A Gene

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 250.7 0.0 -19 0.1 DEFB4A HSALNG0063225 HSPD1P2 DEFB103A
GH08J007913 Enhancer 0.8 Ensembl dbSUPER 0.4 +18.8 18805 1 ZNF654 ZNF600 REST TRIM22 RAD21 SMC3 CTCF ZNF2 TAF7 GLIS1 piR-41695-002 piR-32559-428 ZNF705B DEFB4A
GH08J007901 Enhancer 0.4 Ensembl dbSUPER 0.4 +8.5 8533 1.2 ZNF585B piR-32559-427 piR-30444-309 piR-37567-213 FAM90A11P DEFB4A ZNF705B
GH08J007886 Enhancer 0.4 Ensembl 0.4 -7.4 -7376 0.2 ZNF654 CEBPA CTCF RAD21 HSALNG0063224 DEFB103A DEFB4A lnc-DEFB105A-1
GH08J007902 Enhancer 0.3 Ensembl dbSUPER 0.4 +7.2 7224 0.2 piR-32559-427 DEFB4A ZNF705B
- 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

Latest Assembly
chr8:7,894,677-7,896,716
(GRCh38/hg38)
Size:
2,040 bases
Orientation:
Plus strand

Previous Assembly
chr8:7,752,199-7,754,238
(GRCh37/hg19 by Entrez Gene)
Size:
2,040 bases
Orientation:
Plus strand

chr8:7,752,151-7,754,233
(GRCh37/hg19 by Ensembl)
Size:
2,083 bases
Orientation:
Plus strand

Alternative Locations (GRCh38/hg38)

  • chr8(PATCHES):802,503-804,519 (+)

Genomic View for DEFB4A Gene

Genes around DEFB4A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DEFB4A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DEFB4A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene 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
    Secondary Accessions:
    • Q52LC0

    Protein attributes for DEFB4A Gene

    Size:
    64 amino acids
    Molecular mass:
    7038 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for DEFB4A Gene

neXtProt entry for DEFB4A Gene

Post-translational modifications for DEFB4A Gene

No Post-translational modifications

Other Protein References for DEFB4A Gene

ENSEMBL proteins:
REFSEQ proteins:

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

Graphical View of Domain Structure for InterPro Entry

O15263

UniProtKB/Swiss-Prot:

DFB4A_HUMAN :
  • Belongs to the beta-defensin family. LAP/TAP subfamily.
Family:
  • Belongs to the beta-defensin family. LAP/TAP subfamily.
genes like me logo Genes that share domains with DEFB4A: view

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.

Gene Ontology (GO) - Molecular Function for DEFB4A Gene

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
genes like me logo Genes that share ontologies with DEFB4A: view
genes like me logo Genes that share phenotypes with DEFB4A: view

miRNA for DEFB4A Gene

miRTarBase miRNAs that target DEFB4A

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DEFB4A

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.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DEFB4A gene
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

Gene Ontology (GO) - Cellular Components for DEFB4A Gene

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 --
genes like me logo Genes that share ontologies with DEFB4A: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for DEFB4A Gene

Pathways & Interactions for DEFB4A Gene

PathCards logo

SuperPathways for DEFB4A Gene

SuperPathway Contained pathways
1 Defensins
.81
2 Innate Immune System
3 Bacterial infections in CF airways
.78
.78
4 IL-17 Family Signaling Pathways
5 NOD-like receptor signaling pathway
genes like me logo Genes that share pathways with DEFB4A: view

Pathways by source 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

Gene Ontology (GO) - Biological Process for DEFB4A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006935 chemotaxis TAS,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 --
genes like me logo Genes that share ontologies with DEFB4A: view

No data available for SIGNOR curated interactions for DEFB4A Gene

Drugs & Compounds for DEFB4A Gene

(15) Drugs for DEFB4A Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(16) Additional Compounds for DEFB4A Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with DEFB4A: view

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 :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DEFB4A

Alternative Splicing Database (ASD) splice patterns (SP) for DEFB4A Gene

No ASD Table

Relevant External Links for DEFB4A Gene

GeneLoc Exon Structure for
DEFB4A

Expression for DEFB4A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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.105924

mRNA 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(2.4)
  • Lung(2.2)
  • Intestine(2.2)
  • Spleen(2.1)
  • Lymph node(2.1)
genes like me logo Genes that share expression patterns with DEFB4A: view

Primer products for research

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.

Orthologs for DEFB4A Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia DEFB4A 30
  • 98 (a)
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)

Evolution for DEFB4A Gene

ENSEMBL:
Gene Tree for DEFB4A (if available)
TreeFam:
Gene Tree for DEFB4A (if available)
Alliance of Genome Resources:
Additional Orthologs for DEFB4A

Paralogs for DEFB4A Gene

Paralogs for DEFB4A Gene

(2) SIMAP similar genes for DEFB4A Gene using alignment to 1 proteins:

  • DFB4A_HUMAN
genes like me logo Genes that share paralogs with DEFB4A: view

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
rs117708479 Benign: not provided 7,894,760(+) G/A
NM_004942.4(DEFB4A):c.48G>A (p.Met16Ile)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for DEFB4A Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for DEFB4A Gene

Variant ID Type Subtype PubMed ID
dgv1170n67 CNV loss 20364138
dgv11911n54 CNV loss 21841781
dgv11913n54 CNV gain 21841781
dgv11914n54 CNV gain 21841781
dgv11928n54 CNV gain 21841781
dgv11930n54 CNV gain 21841781
dgv11931n54 CNV loss 21841781
dgv11932n54 CNV loss 21841781
dgv11933n54 CNV loss 21841781
dgv11935n54 CNV gain 21841781
dgv11936n54 CNV loss 21841781
dgv13n29 CNV gain+loss 16826518
dgv2035e212 CNV gain 25503493
dgv6882n100 CNV gain 25217958
dgv6887n100 CNV loss 25217958
dgv6890n100 CNV gain 25217958
dgv6895n100 CNV loss 25217958
dgv6896n100 CNV gain+loss 25217958
dgv6909n100 CNV gain 25217958
dgv6910n100 CNV gain+loss 25217958
dgv6911n100 CNV loss 25217958
dgv6912n100 CNV loss 25217958
dgv6915n100 CNV gain 25217958
dgv6935n100 CNV gain 25217958
dgv6936n100 CNV gain+loss 25217958
dgv6940n100 CNV loss 25217958
dgv6948n100 CNV gain+loss 25217958
dgv6949n100 CNV gain 25217958
dgv6950n100 CNV loss 25217958
dgv6955n100 CNV gain 25217958
dgv6958n100 CNV gain+loss 25217958
dgv6959n100 CNV loss 25217958
dgv6960n100 CNV loss 25217958
dgv6961n100 CNV gain+loss 25217958
dgv6962n100 CNV gain 25217958
dgv6963n100 CNV loss 25217958
dgv6964n100 CNV gain 25217958
dgv6965n100 CNV gain+loss 25217958
dgv6966n100 CNV loss 25217958
dgv6967n100 CNV gain+loss 25217958
dgv6968n100 CNV gain 25217958
dgv6969n100 CNV gain+loss 25217958
dgv6970n100 CNV gain 25217958
dgv6971n100 CNV loss 25217958
dgv6972n100 CNV loss 25217958
dgv6973n100 CNV loss 25217958
dgv6974n100 CNV gain+loss 25217958
dgv6975n100 CNV loss 25217958
dgv6976n100 CNV loss 25217958
dgv6977n100 CNV gain 25217958
dgv6978n100 CNV loss 25217958
dgv6979n100 CNV gain+loss 25217958
dgv6980n100 CNV gain 25217958
dgv6981n100 CNV loss 25217958
esv25631 CNV gain+loss 19812545
esv2752265 CNV gain 17911159
esv2752266 CNV loss 17911159
esv2759589 CNV gain+loss 17122850
esv2761169 CNV gain+loss 21179565
esv2764098 CNV gain+loss 21179565
esv33606 CNV gain+loss 17666407
esv3584574 CNV gain 24956385
esv3584577 CNV gain 24956385
esv3891318 CNV gain 25118596
esv3891321 CNV gain+loss 25118596
esv3891323 CNV gain+loss 25118596
esv992071 CNV gain 20482838
nsv1017081 CNV gain 25217958
nsv1020728 CNV gain+loss 25217958
nsv1022975 CNV loss 25217958
nsv1025485 CNV gain 25217958
nsv1030619 CNV loss 25217958
nsv1031577 CNV gain 25217958
nsv1032072 CNV gain 25217958
nsv1032809 CNV loss 25217958
nsv1145187 CNV deletion 24896259
nsv428194 CNV gain+loss 18775914
nsv433398 CNV gain 18776910
nsv442397 CNV gain 18776908
nsv471477 CNV gain 19718026
nsv471650 CNV gain+loss 15918152
nsv471651 CNV gain+loss 15918152
nsv508496 CNV deletion 20534489
nsv510977 OTHER complex 20534489
nsv515968 CNV gain+loss 19592680
nsv610102 CNV gain+loss 21841781
nsv610119 CNV gain+loss 21841781
nsv610135 CNV loss 21841781
nsv610136 CNV gain 21841781
nsv610137 CNV loss 21841781
nsv821656 CNV gain 15273396
nsv824524 CNV gain+loss 20364138
nsv8281 CNV gain+loss 18304495
nsv951093 CNV deletion 24416366
nsv971627 CNV duplication 23825009

Variation tolerance for DEFB4A Gene

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

Human Gene Mutation Database (HGMD)
DEFB4A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DEFB4A
Leiden Open Variation Database (LOVD)
DEFB4A

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DEFB4A Gene

Disorders for DEFB4A Gene

MalaCards: The human disease database

(59) MalaCards diseases for DEFB4A Gene - From: COP and GCD

Disorder Aliases PubMed IDs
oral candidiasis
  • candidiasis of mouth
urethritis
  • non-gonococcal urethritis
bacterial pneumonia
  • gram-negative pneumonia
tinea corporis
  • dermatophytosis of the body
dermatophytosis
  • tinea
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for DEFB4A

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with DEFB4A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DEFB4A Gene

Publications for DEFB4A Gene

  1. 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 22
  2. 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 22
  3. 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 22
  4. 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 22
  5. 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 22

Products for DEFB4A Gene

Sources for DEFB4A Gene