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Aliases for DEFB4B Gene

Aliases for DEFB4B Gene

  • Defensin Beta 4B 2 3 5
  • Defensin, Beta 4, Pseudogene 2 3
  • Beta Defensin 2 2 3
  • Beta-Defensin 2 2 4
  • Skin-Antimicrobial Peptide 1 4
  • Defensin, Beta 4B 2
  • Defensin, Beta 2 4
  • Beta-Defensin 4B 3
  • Beta Defensin-2 2
  • DEFB102 4
  • DEFB4P 3
  • DEFB4 4
  • HBD-2 4
  • DEFB2 4
  • BD-2 4
  • SAP1 4

External Ids for DEFB4B Gene

Previous HGNC Symbols for DEFB4B Gene

  • DEFB4P

Previous GeneCards Identifiers for DEFB4B Gene

  • GC08M007272

Summaries for DEFB4B Gene

Entrez Gene Summary for DEFB4B 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, Oct 2014]

GeneCards Summary for DEFB4B Gene

DEFB4B (Defensin Beta 4B) is a Protein Coding gene. Diseases associated with DEFB4B include Aleutian Mink Disease and Middle Ear Disease. Among its related pathways are Defensins and Innate Immune System. An important paralog of this gene is DEFB4A.

UniProtKB/Swiss-Prot for DEFB4B 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 DEFB4B Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DEFB4B Gene

Genomics for DEFB4B Gene

GeneHancer (GH) Regulatory Elements for DEFB4B Gene

Promoters and enhancers for DEFB4B Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08I007416 Promoter 0.5 EPDnew 550.8 0.0 -20 0.1 DEFB4B HSPD1P3
GH08I007397 Enhancer 0.7 Ensembl dbSUPER 0.4 +18.9 18862 0.4 CTCF ZNF654 RB1 ZSCAN5C SMC3 REST RAD21 ZNF705G DEFB4B
GH08I007394 Enhancer 0.8 Ensembl ENCODE dbSUPER 0.3 +22.2 22162 1.4 CEBPG FOXA1 ENSG00000271743 ZNF705G DEFB4B
GH08I007408 Enhancer 0.5 Ensembl dbSUPER 0.4 +8.4 8362 0.2 ZNF585B FAM90A11P DEFB4B ZNF705G
GH08I007389 Enhancer 0.4 ENCODE dbSUPER 0.3 +26.7 26712 0.5 ZNF705G DEFB4B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around DEFB4B on UCSC Golden Path with GeneCards custom track

Genomic Locations for DEFB4B Gene

Genomic Locations for DEFB4B Gene
2,004 bases
Minus strand

Genomic View for DEFB4B Gene

Genes around DEFB4B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DEFB4B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DEFB4B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DEFB4B Gene

Proteins for DEFB4B Gene

  • Protein details for DEFB4B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Beta-defensin 4A
    Protein Accession:
    Secondary Accessions:
    • Q52LC0

    Protein attributes for DEFB4B Gene

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

    Three dimensional structures from OCA and Proteopedia for DEFB4B Gene

neXtProt entry for DEFB4B Gene

Post-translational modifications for DEFB4B Gene

No Post-translational modifications

Other Protein References for DEFB4B Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DEFB4B Gene

Domains & Families for DEFB4B Gene

Gene Families for DEFB4B Gene

Human Protein Atlas (HPA):
  • Predicted secreted proteins
  • Transporters

Protein Domains for DEFB4B Gene

Suggested Antigen Peptide Sequences for DEFB4B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the beta-defensin family. LAP/TAP subfamily.
  • Belongs to the beta-defensin family. LAP/TAP subfamily.
genes like me logo Genes that share domains with DEFB4B: view

Function for DEFB4B Gene

Molecular function for DEFB4B 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 DEFB4B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031731 CCR6 chemokine receptor binding IDA --
genes like me logo Genes that share ontologies with DEFB4B: view

Phenotypes for DEFB4B Gene

genes like me logo Genes that share phenotypes with DEFB4B: view

miRNA for DEFB4B Gene

miRTarBase miRNAs that target DEFB4B

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for DEFB4B Gene

Localization for DEFB4B Gene

Subcellular locations from UniProtKB/Swiss-Prot for DEFB4B Gene

Subcellular locations from

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 DEFB4B gene
Compartment Confidence
extracellular 5
golgi apparatus 4

Gene Ontology (GO) - Cellular Components for DEFB4B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IDA --
GO:0005622 intracellular IDA --
GO:0005796 Golgi lumen TAS --
genes like me logo Genes that share ontologies with DEFB4B: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for DEFB4B Gene

Pathways & Interactions for DEFB4B Gene

genes like me logo Genes that share pathways with DEFB4B: view

Pathways by source for DEFB4B Gene

1 KEGG pathway for DEFB4B Gene

Interacting Proteins for DEFB4B Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
Selected Interacting proteins: ENSP00000424598 O15263-DFB4A_HUMAN for DEFB4B Gene via STRING IID

Gene Ontology (GO) - Biological Process for DEFB4B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006935 chemotaxis TAS --
GO:0006952 defense response IEA --
GO:0006955 immune response TAS --
GO:0007186 G-protein coupled receptor signaling pathway TAS --
GO:0019730 antimicrobial humoral response TAS --
genes like me logo Genes that share ontologies with DEFB4B: view

No data available for SIGNOR curated interactions for DEFB4B Gene

Drugs & Compounds for DEFB4B Gene

No Compound Related Data Available

Transcripts for DEFB4B Gene

mRNA/cDNA for DEFB4B Gene

(1) REFSEQ mRNAs :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for DEFB4B Gene

No ASD Table

Relevant External Links for DEFB4B Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for DEFB4B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DEFB4B Gene

mRNA differential expression in normal tissues according to GTEx for DEFB4B Gene

This gene is overexpressed in Esophagus - Mucosa (x36.3) and Minor Salivary Gland (x7.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for DEFB4B Gene

NURSA nuclear receptor signaling pathways regulating expression of DEFB4B Gene:


SOURCE GeneReport for Unigene cluster for DEFB4B Gene:


mRNA Expression by UniProt/SwissProt for DEFB4B Gene:

Tissue specificity: Expressed in the skin and respiratory tract.

Evidence on tissue expression from TISSUES for DEFB4B Gene

  • Skin(4.4)
  • Nervous system(4)
genes like me logo Genes that share expression patterns with DEFB4B: view

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 DEFB4B Gene

Orthologs for DEFB4B Gene

This gene was present in the common ancestor of human and chimp.

Orthologs for DEFB4B Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia DEFB4A 34
  • 98 (a)
Species where no ortholog for DEFB4B 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 DEFB4B Gene

Gene Tree for DEFB4B (if available)
Gene Tree for DEFB4B (if available)

Paralogs for DEFB4B Gene

Paralogs for DEFB4B Gene

(2) SIMAP similar genes for DEFB4B Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with DEFB4B: view

Variants for DEFB4B Gene

Sequence variations from dbSNP and Humsavar for DEFB4B Gene

SNP ID Clin Chr 08 pos Variation AA Info Type
rs1000616016 -- 7,416,389(-) T/C intron_variant
rs1000756681 -- 7,417,368(-) G/A upstream_transcript_variant
rs1008132089 -- 7,416,008(-) G/A/T intron_variant
rs1008578167 -- 7,414,469(-) A/C downstream_transcript_variant
rs10089609 -- 7,415,612(-) T/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for DEFB4B Gene

Variant ID Type Subtype PubMed ID
dgv11911n54 CNV loss 21841781
dgv11912n54 CNV loss 21841781
dgv11913n54 CNV gain 21841781
dgv11914n54 CNV gain 21841781
dgv11915n54 CNV loss 21841781
dgv11916n54 CNV loss 21841781
dgv11917n54 CNV gain 21841781
dgv11918n54 CNV loss 21841781
dgv2035e212 CNV gain 25503493
dgv31n14 CNV loss 18776910
dgv6882n100 CNV gain 25217958
dgv6884n100 CNV gain 25217958
dgv6885n100 CNV gain 25217958
dgv6887n100 CNV loss 25217958
dgv6890n100 CNV gain 25217958
dgv6893n100 CNV gain 25217958
dgv6894n100 CNV gain+loss 25217958
dgv6895n100 CNV loss 25217958
dgv6896n100 CNV gain+loss 25217958
dgv6898n100 CNV loss 25217958
dgv6902n100 CNV gain 25217958
dgv6903n100 CNV loss 25217958
dgv6904n100 CNV gain 25217958
dgv6905n100 CNV gain 25217958
dgv6906n100 CNV gain 25217958
dgv6907n100 CNV loss 25217958
dgv6908n100 CNV gain 25217958
dgv6909n100 CNV gain 25217958
dgv6910n100 CNV gain+loss 25217958
dgv6911n100 CNV loss 25217958
dgv6912n100 CNV loss 25217958
dgv6915n100 CNV gain 25217958
dgv6919n100 CNV gain+loss 25217958
dgv6920n100 CNV gain 25217958
dgv6921n100 CNV loss 25217958
dgv6922n100 CNV gain+loss 25217958
dgv6923n100 CNV gain+loss 25217958
dgv6924n100 CNV loss 25217958
dgv6925n100 CNV gain 25217958
dgv6926n100 CNV loss 25217958
dgv6927n100 CNV gain+loss 25217958
dgv6928n100 CNV gain 25217958
dgv6929n100 CNV loss 25217958
dgv6930n100 CNV gain+loss 25217958
dgv6931n100 CNV gain+loss 25217958
dgv6932n100 CNV gain+loss 25217958
dgv6933n100 CNV loss 25217958
dgv6934n100 CNV gain+loss 25217958
dgv6935n100 CNV gain 25217958
dgv6936n100 CNV gain+loss 25217958
dgv6937n100 CNV loss 25217958
dgv6938n100 CNV loss 25217958
dgv6939n100 CNV gain 25217958
esv21583 CNV gain+loss 19812545
esv2752265 CNV gain 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
esv3616114 CNV loss 21293372
esv3891318 CNV gain 25118596
esv3891321 CNV gain+loss 25118596
esv3891324 CNV gain 25118596
esv996398 CNV gain 20482838
nsv1026778 CNV gain 25217958
nsv1026835 CNV gain+loss 25217958
nsv1027709 CNV gain+loss 25217958
nsv1028208 CNV loss 25217958
nsv1031577 CNV gain 25217958
nsv1032847 CNV loss 25217958
nsv1078039 CNV duplication 25765185
nsv1110507 CNV duplication 24896259
nsv1141572 CNV duplication 24896259
nsv428194 CNV gain+loss 18775914
nsv442397 CNV gain 18776908
nsv469521 CNV gain+loss 16826518
nsv471650 CNV gain+loss 15918152
nsv510977 OTHER complex 20534489
nsv515100 CNV gain 21397061
nsv515968 CNV gain+loss 19592680
nsv610044 CNV gain 21841781
nsv610047 CNV loss 21841781
nsv821656 CNV gain 15273396
nsv824519 CNV loss 20364138
nsv824521 CNV gain 20364138
nsv8281 CNV gain+loss 18304495
nsv951092 CNV deletion 24416366
nsv981905 CNV duplication 23825009

Variation tolerance for DEFB4B Gene

Gene Damage Index Score: 1.20; 24.11% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DEFB4B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DEFB4B Gene

Disorders for DEFB4B Gene

MalaCards: The human disease database

(2) MalaCards diseases for DEFB4B Gene - From: DISEASES

Disorder Aliases PubMed IDs
aleutian mink disease
  • aleutian disease
middle ear disease
  • abnormality of the middle ear
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for DEFB4B

genes like me logo Genes that share disorders with DEFB4B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DEFB4B Gene

Publications for DEFB4B 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) 4 58
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 4 58
  3. 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) 4 58
  4. 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) 4 58
  5. Shotgun sequencing of the human transcriptome with ORF expressed sequence tags. (PMID: 10737800) Dias Neto E … Simpson AJ (Proceedings of the National Academy of Sciences of the United States of America 2000) 3 58

Products for DEFB4B Gene

Sources for DEFB4B Gene

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