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Aliases for DEFB4A Gene

Aliases for DEFB4A Gene

  • Defensin Beta 4A 2 3 5
  • Defensin, Beta 2 2 3 4
  • Skin-Antimicrobial Peptide 1 3 4
  • Defensin, Beta 4 2 3
  • Beta Defensin-2 2 3
  • Beta-Defensin 2 2 4
  • DEFB102 3 4
  • DEFB4 3 4
  • HBD-2 3 4
  • DEFB2 3 4
  • BD-2 3 4
  • SAP1 3 4
  • Defensin, Beta 4A 2
  • Beta-Defensin 4A 3
  • Beta Defensin 2 2
  • DEFB4A DEFB4B 4
  • DEFB-2 3

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 Tinea Corporis and Oral Candidiasis. Among its related pathways are Defensins and Immune System. An important paralog of this gene is DEFB4B.

UniProtKB/Swiss-Prot 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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DEFB4A Gene

Genomics for DEFB4A Gene

Regulatory Elements for DEFB4A Gene

Enhancers for DEFB4A Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around DEFB4A on UCSC Golden Path with GeneCards custom track

Genomic Location for DEFB4A Gene

Chromosome:
8
Start:
7,894,565 bp from pter
End:
7,896,716 bp from pter
Size:
2,152 bases
Orientation:
Plus strand

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:

Antibody Products

  • R&D Systems Antibodies for DEFB4A (beta-Defensin 2)
  • Cloud-Clone Corp. Antibodies for DEFB4A

No data available for DME Specific Peptides for DEFB4A Gene

Domains & Families for DEFB4A Gene

Gene Families for DEFB4A Gene

Protein Domains for DEFB4A Gene

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 IDA 20068036
genes like me logo Genes that share ontologies with DEFB4A: view
genes like me logo Genes that share phenotypes with DEFB4A: view

Animal Model Products

CRISPR Products

miRNA for DEFB4A Gene

miRTarBase miRNAs that target DEFB4A

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DEFB4A Gene COMPARTMENTS Subcellular localization image for DEFB4A gene
Compartment Confidence
extracellular 5
golgi apparatus 4

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 IDA 21115716
GO:0005796 Golgi lumen TAS --
genes like me logo Genes that share ontologies with DEFB4A: view

Pathways & Interactions for DEFB4A Gene

genes like me logo Genes that share pathways with DEFB4A: view

Pathways by source for DEFB4A Gene

Gene Ontology (GO) - Biological Process for DEFB4A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006935 chemotaxis IDA,TAS 20068036
GO:0006955 immune response TAS 10521347
GO:0007186 G-protein coupled receptor signaling pathway TAS 10521347
GO:0042742 defense response to bacterium IMP 21115716
GO:0045087 innate immune 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

(14) Drugs for DEFB4A Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(17) 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 :
(4) Additional mRNA sequences :
(11) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for DEFB4A Gene

Defensin, beta 4A:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for DEFB4A Gene

GeneLoc Exon Structure for
DEFB4A
ECgene alternative splicing isoforms for
DEFB4A

Expression for DEFB4A Gene

mRNA expression in normal human tissues 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, PaxDb, and MOPED for DEFB4A Gene



NURSA nuclear receptor signaling pathways regulating expression of DEFB4A Gene:

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.
genes like me logo Genes that share expression patterns with DEFB4A: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues and Protein tissue co-expression partners 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 35
  • 98 (a)
OneToMany
Species where no ortholog for DEFB4A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for DEFB4A Gene

Paralogs for DEFB4A Gene

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

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

Variants for DEFB4A Gene

Sequence variations from dbSNP and Humsavar for DEFB4A Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs3762040 -- 7,893,686(+) ACGGA(A/G)GAAGG upstream-variant-2KB
rs9329210 -- 7,892,867(+) CTGTA(C/T)GCTTT upstream-variant-2KB
rs111884862 -- 7,894,087(+) TGGGG(A/G)GTTTC upstream-variant-2KB
rs143097831 -- 7,894,733(+) CTCCT(C/T)TTCTC reference, synonymous-codon
rs11289967 -- 7,892,798(+) TATAC(-/A)AAAAA upstream-variant-2KB

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)

Relevant External Links for DEFB4A Gene

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

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

Disorders for DEFB4A Gene

MalaCards: The human disease database

(22) MalaCards diseases for DEFB4A Gene - From: DISEASES, Novoseek, and GeneCards

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

Relevant External Links for DEFB4A

Human Genome Epidemiology (HuGE) Navigator
DEFB4A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DEFB4A
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) RAPhrl J. … Hehlgans T. (J. Biol. Chem. 2010) 3 4 22 65
  2. The structure of human beta-defensin-2 shows evidence of higher order oligomerization. (PMID: 10906336) Hoover D.M. … Lubkowski J. (J. Biol. Chem. 2000) 3 4 22 65
  3. Structure and mapping of the human beta-defensin HBD-2 gene and its expression at sites of inflammation. (PMID: 9831658) Liu L. … Ganz T. (Gene 1998) 3 4 22 65
  4. A peptide antibiotic from human skin. (PMID: 9202117) Harder J. … Schroeder J.-M. (Nature 1997) 2 3 4 65
  5. The role of human beta defensins 2 and 3 in the second trimester amniotic fluid in predicting preterm labor and premature rupture of membranes. (PMID: 19554343) Iavazzo C. … Malamitsi-Puchner A. (Arch. Gynecol. Obstet. 2010) 3 22 65

Products for DEFB4A Gene

Sources for DEFB4A Gene

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