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Aliases for DEFB114 Gene

Aliases for DEFB114 Gene

  • Defensin Beta 114 2 3 5
  • Defensin, Beta 114 2 4
  • Beta-Defensin 14 3 4
  • DEFB-14 3 4
  • DEFB14 3 4
  • Beta-Defensin 114 3
  • Defensin, Beta 14 3

External Ids for DEFB114 Gene

Previous GeneCards Identifiers for DEFB114 Gene

  • GC06U990317
  • GC06M049924
  • GC06M049974
  • GC06M050035
  • GC06M049659

Summaries for DEFB114 Gene

Entrez Gene Summary for DEFB114 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. The protein encoded by this gene is a beta-defensin with antimicrobial activity against E. coli, S. aureus, and C. albicans. The encoded protein also binds and neutralizes lipopolysaccharide (LPS), a factor involved in inflammatory diseases and male reproductive issues. [provided by RefSeq, Nov 2014]

GeneCards Summary for DEFB114 Gene

DEFB114 (Defensin Beta 114) is a Protein Coding gene. Among its related pathways are Defensins and Innate Immune System. GO annotations related to this gene include lipopolysaccharide binding.

UniProtKB/Swiss-Prot for DEFB114 Gene

  • Has a salt-sensitive antimicrobial activity against Gram-negative bacteria, including E.coli, Gram-positive, including S.aureus, and fungi, including C.albicans. Binds to and neutralizes bacterial lipopolysaccharides (LPS), abolishing TNF production by macrophages challenged with LPS. Rescues the LPS-induced reduction of sperm motility in vitro and may protect from LPS-induced lethality.

Additional gene information for DEFB114 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DEFB114 Gene

Genomics for DEFB114 Gene

Regulatory Elements for DEFB114 Gene


Genomic Location for DEFB114 Gene

Chromosome:
6
Start:
49,960,249 bp from pter
End:
49,964,105 bp from pter
Size:
3,857 bases
Orientation:
Minus strand

Genomic View for DEFB114 Gene

Genes around DEFB114 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DEFB114 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DEFB114 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DEFB114 Gene

Proteins for DEFB114 Gene

  • Protein details for DEFB114 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q30KQ6-DB114_HUMAN
    Recommended name:
    Beta-defensin 114
    Protein Accession:
    Q30KQ6
    Secondary Accessions:
    • Q8NES9

    Protein attributes for DEFB114 Gene

    Size:
    69 amino acids
    Molecular mass:
    8318 Da
    Quaternary structure:
    No Data Available

neXtProt entry for DEFB114 Gene

Post-translational modifications for DEFB114 Gene

No Post-translational modifications

Other Protein References for DEFB114 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DEFB114 Gene

Domains & Families for DEFB114 Gene

Gene Families for DEFB114 Gene

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

Protein Domains for DEFB114 Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DEFB114 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q30KQ6

UniProtKB/Swiss-Prot:

DB114_HUMAN :
  • Belongs to the beta-defensin family.
Family:
  • Belongs to the beta-defensin family.
genes like me logo Genes that share domains with DEFB114: view

Function for DEFB114 Gene

Molecular function for DEFB114 Gene

UniProtKB/Swiss-Prot Function:
Has a salt-sensitive antimicrobial activity against Gram-negative bacteria, including E.coli, Gram-positive, including S.aureus, and fungi, including C.albicans. Binds to and neutralizes bacterial lipopolysaccharides (LPS), abolishing TNF production by macrophages challenged with LPS. Rescues the LPS-induced reduction of sperm motility in vitro and may protect from LPS-induced lethality.

Gene Ontology (GO) - Molecular Function for DEFB114 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001530 lipopolysaccharide binding IDA 23482568
genes like me logo Genes that share ontologies with DEFB114: view

Phenotypes for DEFB114 Gene

GenomeRNAi human phenotypes for DEFB114:
genes like me logo Genes that share phenotypes with DEFB114: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for DEFB114
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for DEFB114 Gene

Localization for DEFB114 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DEFB114 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 DEFB114 gene
Compartment Confidence
extracellular 5
mitochondrion 1
cytosol 1

Gene Ontology (GO) - Cellular Components for DEFB114 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
genes like me logo Genes that share ontologies with DEFB114: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for DEFB114 Gene

Pathways & Interactions for DEFB114 Gene

genes like me logo Genes that share pathways with DEFB114: view

Pathways by source for DEFB114 Gene

Gene Ontology (GO) - Biological Process for DEFB114 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006952 defense response IEA --
GO:0031665 negative regulation of lipopolysaccharide-mediated signaling pathway IDA 23482568
GO:0042742 defense response to bacterium IEA --
GO:0043407 negative regulation of MAP kinase activity IMP 23482568
GO:0045087 innate immune response IMP 23482568
genes like me logo Genes that share ontologies with DEFB114: view

No data available for SIGNOR curated interactions for DEFB114 Gene

Drugs & Compounds for DEFB114 Gene

No Compound Related Data Available

Transcripts for DEFB114 Gene

mRNA/cDNA for DEFB114 Gene

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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for DEFB114
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for DEFB114 Gene

No ASD Table

Relevant External Links for DEFB114 Gene

GeneLoc Exon Structure for
DEFB114
ECgene alternative splicing isoforms for
DEFB114

Expression for DEFB114 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DEFB114 Gene

NURSA nuclear receptor signaling pathways regulating expression of DEFB114 Gene:

DEFB114

SOURCE GeneReport for Unigene cluster for DEFB114 Gene:

Hs.381372

mRNA Expression by UniProt/SwissProt for DEFB114 Gene:

Q30KQ6-DB114_HUMAN
Tissue specificity: Expressed in epididymis, predominantly in the caput (at protein level).
genes like me logo Genes that share expression patterns with DEFB114: 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 , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for DEFB114 Gene

Orthologs for DEFB114 Gene

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

Orthologs for DEFB114 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DEFB114 33 34
  • 96.62 (n)
Species where no ortholog for DEFB114 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 DEFB114 Gene

ENSEMBL:
Gene Tree for DEFB114 (if available)
TreeFam:
Gene Tree for DEFB114 (if available)

Paralogs for DEFB114 Gene

(1) SIMAP similar genes for DEFB114 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with DEFB114: view

No data available for Paralogs for DEFB114 Gene

Variants for DEFB114 Gene

Sequence variations from dbSNP and Humsavar for DEFB114 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs1000830120 -- 49,961,706(+) CATTA(A/T)GGACC intron-variant
rs1001159642 -- 49,960,273(+) TTGTT(C/T)AGAGG downstream-variant-500B
rs1001213698 -- 49,960,567(+) ATAAA(A/T)CCATG intron-variant
rs1001631049 -- 49,960,532(+) TACAT(C/T)GTATC intron-variant
rs1001778034 -- 49,960,722(+) AAAAT(A/T)CAAGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DEFB114 Gene

Variant ID Type Subtype PubMed ID
dgv1771e212 CNV loss 25503493
esv3539710 CNV deletion 23714750
nsv603091 CNV loss 21841781

Variation tolerance for DEFB114 Gene

Residual Variation Intolerance Score: 63.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.11; 2.48% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DEFB114 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DEFB114

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DEFB114 Gene

Disorders for DEFB114 Gene

Relevant External Links for DEFB114

Genetic Association Database (GAD)
DEFB114
Human Genome Epidemiology (HuGE) Navigator
DEFB114
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DEFB114

No disorders were found for DEFB114 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for DEFB114 Gene

Publications for DEFB114 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 60
  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 4 60
  3. The novel human β-defensin 114 regulates lipopolysaccharide (LPS)-mediated inflammation and protects sperm from motility loss. (PMID: 23482568) Yu H … Diao H (The Journal of biological chemistry 2013) 3 4 60
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 45 60
  5. Molecular diversity of the antimicrobial domain of beta-defensin 3 and homologous peptides. (PMID: 19888439) Nava GM … Castañeda MP (Comparative and functional genomics 2009) 22 60

Products for DEFB114 Gene

Sources for DEFB114 Gene

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