Free for academic non-profit institutions. Other users need a Commercial license

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 Defensins and Innate Immune System.

UniProtKB/Swiss-Prot for DEFB116 Gene

  • Has antibacterial activity.

Additional gene information for DEFB116 Gene

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

Genomics for DEFB116 Gene

GeneHancer (GH) Regulatory Elements for DEFB116 Gene

Promoters and enhancers for DEFB116 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
GH20I031308 Promoter 0.5 EPDnew 550.8 0.0 -33 0.1 DEFB116 RPL31P3
GH20I030413 Enhancer 0.7 FANTOM5 11 +895.0 895046 0.4 TCF12 ZNF366 IKZF1 ZFP64 BRF2 HES1 E4F1 DEFB116 MLLT10P1 ENSG00000275877
GH20I031601 Promoter/Enhancer 3.1 VISTA EPDnew FANTOM5 Ensembl ENCODE dbSUPER 1.7 -298.9 -298867 11.5 CLOCK MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 E2F8 ZNF143 SP3 ID1 GC20P031606 MIR3193 ASXL1 TM9SF4 MYLK2 COX4I2 HM13 RNU6-384P HM13-AS1
GH20I030402 Enhancer 0.5 FANTOM5 5.4 +906.1 906089 0.1 CTCF CBX3 PHB2 CEBPG TCF7L2 MLLT10P1 DEFB116 FRG1BP
GH20I031245 Enhancer 0.3 FANTOM5 5.2 +62.7 62737 0.4 SREBF1 LINC01597 DEFB116 DEFB121 GC20M031241 DEFB115
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around DEFB116 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DEFB116 gene promoter:

Genomic Locations for DEFB116 Gene

Genomic Locations for DEFB116 Gene
chr20:31,303,212-31,308,585
(GRCh38/hg38)
Size:
5,374 bases
Orientation:
Minus strand
chr20:29,891,015-29,896,388
(GRCh37/hg19)

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:
    Q30KQ4-DB116_HUMAN
    Recommended name:
    Beta-defensin 116
    Protein Accession:
    Q30KQ4

    Protein attributes for DEFB116 Gene

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

neXtProt entry for DEFB116 Gene

Post-translational modifications for DEFB116 Gene

No Post-translational modifications

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

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

Protein Domains for DEFB116 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DEFB116 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q30KQ4

UniProtKB/Swiss-Prot:

DB116_HUMAN :
  • Belongs to the beta-defensin family.
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

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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

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 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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for DEFB116 Gene

Pathways & Interactions for DEFB116 Gene

genes like me logo Genes that share pathways with DEFB116: view

Pathways by source 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

Drugs & Compounds for DEFB116 Gene

No Compound Related Data Available

Transcripts for DEFB116 Gene

mRNA/cDNA for DEFB116 Gene

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

Clone Products

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

No ASD Table

Relevant External Links for DEFB116 Gene

GeneLoc Exon Structure for
DEFB116
ECgene alternative splicing isoforms for
DEFB116

Expression for DEFB116 Gene

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

NURSA nuclear receptor signaling pathways regulating expression of DEFB116 Gene:

DEFB116

SOURCE GeneReport for Unigene cluster for DEFB116 Gene:

Hs.580703
genes like me logo Genes that share expression patterns with DEFB116: view

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 , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia DEFB116 33 34
  • 100 (n)
rat
(Rattus norvegicus)
Mammalia Defb29 33
  • 75 (n)
dog
(Canis familiaris)
Mammalia CBD116 34
  • 73 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Defb29 33 16 34
  • 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

ENSEMBL:
Gene Tree for DEFB116 (if available)
TreeFam:
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 Variation AA Info Type
rs1000427464 -- 31,303,294(-) G/C coding_sequence_variant, missense_variant
rs1000518031 -- 31,307,139(-) C/A intron_variant
rs1000589831 -- 31,306,805(-) G/C intron_variant
rs1001565391 -- 31,309,144(-) A/G upstream_transcript_variant
rs1002409104 -- 31,305,769(-) T/ intron_variant

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

Variant ID Type Subtype PubMed ID
dgv4298n100 CNV gain 25217958
dgv4299n100 CNV gain 25217958
dgv4300n100 CNV gain 25217958
esv2763228 CNV gain 21179565
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

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)

Additional Variant Information for DEFB116 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DEFB116

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

Disorders for DEFB116 Gene

Additional Disease Information for DEFB116

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 AA … Zhang G (Physiological genomics 2005) 2 3 4 58
  2. Discovery of five conserved beta -defensin gene clusters using a computational search strategy. (PMID: 11854508) Schutte BC … McCray PB (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3 58
  3. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P … Rogers J (Nature 2001) 3 4 58

Products for DEFB116 Gene

Sources for DEFB116 Gene

Content
Loading form....