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Aliases for DEFB116 Gene

Aliases for DEFB116 Gene

  • Defensin Beta 116 2 3 5
  • Defensin, Beta 116 2 4
  • Defensin, Beta 16 2 3
  • Beta-Defensin 16 3 4
  • DEFB-16 3 4
  • Beta-Defensin 116 3
  • DEFB16 4

External Ids for DEFB116 Gene

Previous GeneCards Identifiers for DEFB116 Gene

  • GC20U990232
  • GC20M029354
  • GC20M029891
  • GC20M026679

Summaries for DEFB116 Gene

Entrez Gene Summary for DEFB116 Gene

  • Defensins form a family of antimicrobial and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. [provided by RefSeq, Oct 2014]

GeneCards Summary for DEFB116 Gene

DEFB116 (Defensin Beta 116) is a Protein Coding gene. Among its related pathways are Immune System and Defensins.

UniProtKB/Swiss-Prot for DEFB116 Gene

  • Has antibacterial activity.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DEFB116 Gene

Genomics for DEFB116 Gene

Regulatory Elements for DEFB116 Gene

Enhancers for DEFB116 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
GH20F030413 0.8 FANTOM5 11 +895.0 895046 0.4 STAT1 ZFP64 SUPT20H BRF2 KAT2B ZNF274 ZNF366 IKZF1 ZZZ3 DEFB116 MLLT10P1 ENSG00000275877
GH20F031601 2.1 VISTA FANTOM5 ENCODE 1.7 -298.9 -298867 11.5 CREB3L1 MLX ZFP64 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC MEF2D MCTS2P MYLK2 COX4I2 TSPY26P HM13 RNU6-384P HM13-AS1 KIF3B DEFB124 ID1
GH20F030402 0.6 FANTOM5 5.4 +906.1 906090 0.1 CBX3 CEBPG TCF7L2 ZBTB17 MLLT10P1 DEFB116 FRG1BP
GH20F031245 0.3 FANTOM5 5.2 +62.7 62738 0.4 LINC01597 DEFB116 DEFB121 GC20M031241 DEFB115
GH20F031228 0.3 FANTOM5 5 +79.8 79776 0.0 DEFB116 GC20M031241 CDC27P5
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DEFB116 on UCSC Golden Path with GeneCards custom track

Genomic Location for DEFB116 Gene

31,303,212 bp from pter
31,308,585 bp from pter
5,374 bases
Minus strand

Genomic View for DEFB116 Gene

Genes around DEFB116 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DEFB116 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DEFB116 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DEFB116 Gene

Proteins for DEFB116 Gene

  • Protein details for DEFB116 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Beta-defensin 116
    Protein Accession:

    Protein attributes for DEFB116 Gene

    102 amino acids
    Molecular mass:
    11544 Da
    Quaternary structure:
    No Data Available

neXtProt entry for DEFB116 Gene

Post-translational modifications for DEFB116 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DEFB116 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DEFB116 Gene

Domains & Families for DEFB116 Gene

Gene Families for DEFB116 Gene

Protein Domains for DEFB116 Gene


Suggested Antigen Peptide Sequences for DEFB116 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the beta-defensin family.
  • Belongs to the beta-defensin family.
genes like me logo Genes that share domains with DEFB116: view

Function for DEFB116 Gene

Molecular function for DEFB116 Gene

UniProtKB/Swiss-Prot Function:
Has antibacterial activity.

Phenotypes for DEFB116 Gene

GenomeRNAi human phenotypes for DEFB116:
genes like me logo Genes that share phenotypes with DEFB116: view

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for DEFB116 Gene

Localization for DEFB116 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DEFB116 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 DEFB116 gene
Compartment Confidence
extracellular 5

Gene Ontology (GO) - Cellular Components for DEFB116 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0009986 cell surface IBA --
genes like me logo Genes that share ontologies with DEFB116: view

Pathways & Interactions for DEFB116 Gene

SuperPathways for DEFB116 Gene

SuperPathway Contained pathways
1 Defensins
2 Immune System
genes like me logo Genes that share pathways with DEFB116: view

Pathways by source for DEFB116 Gene

4 Reactome pathways for DEFB116 Gene

Interacting Proteins for DEFB116 Gene

Gene Ontology (GO) - Biological Process for DEFB116 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006952 defense response IEA --
GO:0042742 defense response to bacterium IEA,IBA --
GO:0045087 innate immune response IBA --
genes like me logo Genes that share ontologies with DEFB116: view

No data available for SIGNOR curated interactions for DEFB116 Gene

Transcripts for DEFB116 Gene

mRNA/cDNA for DEFB116 Gene

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

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for DEFB116 Gene

No ASD Table

Relevant External Links for DEFB116 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for DEFB116 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DEFB116 Gene

NURSA nuclear receptor signaling pathways regulating expression of DEFB116 Gene:


SOURCE GeneReport for Unigene cluster for DEFB116 Gene:

genes like me logo Genes that share expression patterns with DEFB116: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for DEFB116 Gene

Orthologs for DEFB116 Gene

This gene was present in the common ancestor of mammals.

Orthologs for DEFB116 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia DEFB116 34 35
  • 100 (n)
(Rattus norvegicus)
Mammalia Defb29 34
  • 75 (n)
(Canis familiaris)
Mammalia CBD116 35
  • 73 (a)
(Mus musculus)
Mammalia Defb29 34 16 35
  • 72.29 (n)
Species where no ortholog for DEFB116 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)
  • 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)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • 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 DEFB116 Gene

Gene Tree for DEFB116 (if available)
Gene Tree for DEFB116 (if available)

Paralogs for DEFB116 Gene

No data available for Paralogs for DEFB116 Gene

Variants for DEFB116 Gene

Sequence variations from dbSNP and Humsavar for DEFB116 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs111922175 -- 31,302,878(+) CTTGG(A/G)GGACC downstream-variant-500B
rs112694212 -- 31,303,434(+) CCATT(A/G)TGGGA reference, synonymous-codon
rs113073659 -- 31,310,187(+) TACAG(A/T)ATTAG upstream-variant-2KB
rs113226898 -- 31,305,779(+) TTGTG(-/T)AAAAA intron-variant
rs113751431 -- 31,308,185(+) CTGCT(A/G)TACCC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DEFB116 Gene

Variant ID Type Subtype PubMed ID
esv3439918 CNV duplication 20981092
esv3567947 CNV loss 25503493
esv3645644 CNV loss 21293372
esv3645645 CNV gain 21293372
esv3645646 CNV gain 21293372
nsv458960 CNV gain 19166990
nsv458961 CNV gain 19166990
nsv470546 CNV gain 18288195
nsv585909 CNV gain 21841781
nsv585910 CNV gain 21841781
nsv585911 CNV gain 21841781
esv2763228 CNV gain 21179565
dgv4300n100 CNV gain 25217958
dgv4299n100 CNV gain 25217958
dgv4298n100 CNV gain 25217958

Variation tolerance for DEFB116 Gene

Residual Variation Intolerance Score: 71.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.20; 52.10% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DEFB116 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DEFB116 Gene

Disorders for DEFB116 Gene

Relevant External Links for DEFB116

Atlas of Genetics and Cytogenetics in Oncology and Haematology:

No disorders were found for DEFB116 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for DEFB116 Gene

Publications for DEFB116 Gene

  1. Cross-species analysis of the mammalian beta-defensin gene family: presence of syntenic gene clusters and preferential expression in the male reproductive tract. (PMID: 16033865) Patil A.A. … Zhang G. (Physiol. Genomics 2005) 2 3 4 64
  2. Discovery of five conserved beta-defensin gene clusters using a computational search strategy. (PMID: 11854508) Schutte B.C. … McCray P.B. Jr. (Proc. Natl. Acad. Sci. U.S.A. 2002) 2 3 64
  3. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P. … Rogers J. (Nature 2001) 3 4 64

Products for DEFB116 Gene

Sources for DEFB116 Gene

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