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

Aliases for DEFB114 Gene

Aliases for DEFB114 Gene

  • Defensin Beta 114 2 3 5
  • Defensin, Beta 114 2 3 4
  • Beta-Defensin 14 3 4
  • DEFB-14 3 4
  • DEFB14 3 4
  • 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 Immune System and Defensins. 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.

No data available for 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

Proteomics data for DEFB114 Gene at MOPED

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

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.

Phenotypes for DEFB114 Gene

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

Animal Model 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 DEFB114 Gene

Localization for DEFB114 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DEFB114 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DEFB114 Gene COMPARTMENTS Subcellular localization image for DEFB114 gene
Compartment Confidence
extracellular 5
cytosol 1
mitochondrion 1

No data available for Gene Ontology (GO) - Cellular Components for DEFB114 Gene

Pathways & Interactions for DEFB114 Gene

SuperPathways for DEFB114 Gene

Superpath Contained pathways
1 Immune System
2 Defensins
.82
genes like me logo Genes that share pathways with DEFB114: view

Pathways by source for DEFB114 Gene

4 Reactome pathways for DEFB114 Gene

Interacting Proteins for DEFB114 Gene

Gene Ontology (GO) - Biological Process for DEFB114 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031665 negative regulation of lipopolysaccharide-mediated signaling pathway IDA 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 :

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 for DEFB114 Gene

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

In Situ Assay 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 and Protein tissue co-expression partners 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 35
  • 96.62 (n)
  • 91.3 (a)
DEFB114 36
  • 91 (a)
OneToOne
Species with no ortholog for DEFB114:
  • 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
rs1538193 -- 49,963,262(-) CAAAA(A/T)GATCA intron-variant
rs4715165 -- 49,964,398(+) ATCAA(C/T)GCAAA upstream-variant-2KB
rs4711937 -- 49,964,327(+) TTTGG(A/G)AGGAA upstream-variant-2KB
rs4711938 -- 49,964,685(+) TTCAC(A/G)AAACT upstream-variant-2KB
rs9357639 -- 49,962,501(+) CTTTT(A/G)TATGC intron-variant

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

HapMap Linkage Disequilibrium report
DEFB114

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) 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 A.A. … Zhang G. (Physiol. Genomics 2005) 2 3 4 67
  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
  3. The novel human I^-defensin 114 regulates lipopolysaccharide (LPS)-mediated inflammation and protects sperm from motility loss. (PMID: 23482568) Yu H. … Diao H. (J. Biol. Chem. 2013) 3
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3
  5. Molecular diversity of the antimicrobial domain of beta-defensin 3 and homologous peptides. (PMID: 19888439) Nava G.M. … CastaA+eda M.P. (Comp. Funct. Genomics 2009) 23

Products for DEFB114 Gene

Sources for DEFB114 Gene

Back to Top

Content