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Aliases for DEFB4B Gene

Aliases for DEFB4B Gene

  • Defensin Beta 4B 2 3 5
  • Beta-Defensin 2 2 3 4
  • Defensin, Beta 4, Pseudogene 2 3
  • Defensin, Beta 4B 2 3
  • Beta Defensin 2 2 3
  • Beta Defensin-2 2 3
  • Skin-Antimicrobial Peptide 1 4
  • Defensin, Beta 2 4
  • DEFB4A DEFB4B 4
  • 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. Among its related pathways are Immune System and Defensins. An important paralog of this gene is DEFB4A.

UniProtKB/Swiss-Prot for DEFB4B Gene

  • Has antibacterial activity.

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

Genomics for DEFB4B Gene

Genomic Location for DEFB4B Gene

Chromosome:
8
Start:
7,414,860 bp from pter
End:
7,416,863 bp from pter
Size:
2,004 bases
Orientation:
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

No data available for Regulatory Elements for DEFB4B Gene

Proteins for DEFB4B Gene

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

    Protein Symbol:
    O15263-DFB4A_HUMAN
    Recommended name:
    Beta-defensin 4A
    Protein Accession:
    O15263
    Secondary Accessions:
    • Q52LC0

    Protein attributes for DEFB4B Gene

    Size:
    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

Proteomics data for DEFB4B Gene at MOPED

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

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

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 DEFB4B: view

Function for DEFB4B Gene

Molecular function for DEFB4B Gene

UniProtKB/Swiss-Prot Function:
Has antibacterial activity.
UniProtKB/Swiss-Prot Induction:
By inflammation.

Phenotypes for DEFB4B Gene

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

Animal Model Products

miRNA for DEFB4B Gene

miRTarBase miRNAs that target DEFB4B

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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

COMPARTMENTS
Jensen Localization Image for DEFB4B Gene COMPARTMENTS Subcellular localization image for DEFB4B gene
Compartment Confidence
extracellular 5
golgi apparatus 4

No data available for Gene Ontology (GO) - Cellular Components for DEFB4B Gene

Pathways & Interactions for DEFB4B Gene

SuperPathways for DEFB4B Gene

Superpath Contained pathways
1 Immune System
2 Defensins
.82
genes like me logo Genes that share pathways with DEFB4B: view

Pathways by source for DEFB4B Gene

4 Reactome pathways for DEFB4B Gene

Interacting Proteins for DEFB4B Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000424598%0d%0a9606.ENSP00000303532%0d%0a
Selected Interacting proteins: O15263-DFB4A_HUMAN ENSP00000424598 for DEFB4B Gene via I2D STRING

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:0045087 innate immune 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
DEFB4B
ECgene alternative splicing isoforms for
DEFB4B

Expression for DEFB4B Gene

mRNA expression in normal human tissues 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



SOURCE GeneReport for Unigene cluster for DEFB4B Gene Hs.740237

mRNA Expression by UniProt/SwissProt for DEFB4B Gene

O15263-DFB4A_HUMAN
Tissue specificity: Expressed in the skin and respiratory tract.
genes like me logo Genes that share expression patterns with DEFB4B: view

In Situ Assay 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 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
chimpanzee
(Pan troglodytes)
Mammalia DEFB4A 36
  • 98 (a)
OneToMany
Species with no ortholog for DEFB4B:
  • 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

ENSEMBL:
Gene Tree for DEFB4B (if available)
TreeFam:
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 Sequence Context AA Info Type
rs2409862 -- 7,418,832(+) TGCCA(C/G)CACCC upstream-variant-2KB
rs4840278 -- 7,418,170(+) GGTAA(C/T)GATAT upstream-variant-2KB
rs4840752 -- 7,418,504(+) GGTCA(A/G)ATGCT upstream-variant-2KB
rs10089746 -- 7,415,725(+) cctcc(C/T)tccct intron-variant
rs12548109 -- 7,418,515(+) GTCAG(A/T)ACTGC upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
nsv428194 CNV Gain+Loss 18775914
dgv2191e1 CNV Complex 17122850
nsv515968 CNV Gain+Loss 19592680
nsv821656 CNV Gain 15273396
dgv2192e1 CNV Complex 17122850
nsv890074 CNV Gain 21882294
esv2736558 CNV Deletion 23290073
nsv510977 CNV Complex 20534489
dgv2193e1 CNV Complex 17122850
dgv7659n71 CNV Gain 21882294
esv21583 CNV Gain+Loss 19812545
nsv890078 CNV Gain 21882294
esv33606 CNV Gain+Loss 17666407
dgv7661n71 CNV Gain 21882294
dgv7662n71 CNV Gain 21882294
nsv8281 CNV Gain+Loss 18304495
nsv890085 CNV Loss 21882294
dgv7663n71 CNV Loss 21882294
dgv7664n71 CNV Loss 21882294
dgv2194e1 CNV Complex 17122850
nsv471650 CNV Gain+Loss 15918152
dgv2195e1 CNV Complex 17122850
dgv7666n71 CNV Gain 21882294
dgv7667n71 CNV Gain+Loss 21882294
dgv7668n71 CNV Gain 21882294
dgv7669n71 CNV Gain 21882294
dgv7670n71 CNV Loss 21882294
dgv7671n71 CNV Gain+Loss 21882294
dgv7672n71 CNV Gain+Loss 21882294
dgv7673n71 CNV Gain+Loss 21882294
esv996398 CNV Gain 20482838
nsv890110 CNV Gain 21882294
esv2752265 CNV Gain 17911159
nsv824519 CNV Loss 20364138
nsv824521 CNV Gain 20364138
nsv515100 CNV Complex 21397061
dgv31n14 CNV Loss 18776910
dgv7675n71 CNV Loss 21882294
nsv890153 CNV Loss 21882294
nsv442397 CNV CNV 18776908
nsv469521 CNV Complex 16826518
dgv7677n71 CNV Gain+Loss 21882294
dgv7678n71 CNV Gain 21882294
dgv7679n71 CNV Gain 21882294

Variation tolerance for DEFB4B Gene

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

Relevant External Links for DEFB4B Gene

HapMap Linkage Disequilibrium report
DEFB4B

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

Disorders for DEFB4B Gene

Relevant External Links for DEFB4B

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DEFB4B

No disorders were found for DEFB4B Gene.

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

Publications for DEFB4B Gene

  1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 4 67
  2. Shotgun sequencing of the human transcriptome with ORF expressed sequence tags. (PMID: 10737800) Dias Neto E. … Simpson A.J.G. (Proc. Natl. Acad. Sci. U.S.A. 2000) 3
  3. Human beta-defensin 2 is a salt-sensitive peptide antibiotic expressed in human lung. (PMID: 9727055) Bals R. … Wilson J.M. (J. Clin. Invest. 1998) 3

Products for DEFB4B Gene

Sources for DEFB4B Gene

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