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Aliases for DEFB116 Gene

Aliases for DEFB116 Gene

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

Genomic Location for DEFB116 Gene

Start:
31,303,212 bp from pter
End:
31,308,585 bp from pter
Size:
5,374 bases
Orientation:
Minus strand

Genomic View for DEFB116 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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
    Secondary Accessions:

    Protein attributes for DEFB116 Gene

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

neXtProt entry for DEFB116 Gene

Proteomics data for DEFB116 Gene at MOPED

Post-translational modifications for DEFB116 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DEFB116 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for DEFB116 Gene

Domains for DEFB116 Gene

Gene Families for DEFB116 Gene

HGNC:
  • DEFB :Defensins, beta

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 :
  • Q30KQ4
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.

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

Localization for DEFB116 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DEFB116 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DEFB116 Gene COMPARTMENTS Subcellular localization image for DEFB116 gene
Compartment Confidence
extracellular 3

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 for DEFB116 Gene

SuperPathways for DEFB116 Gene

Superpath Contained pathways
1 Defensins
.80
genes like me logo Genes that share pathways with DEFB116: view

Pathways by source for DEFB116 Gene

2 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:0042742 defense response to bacterium IBA --
GO:0045087 innate immune response IBA --
genes like me logo Genes that share ontologies with DEFB116: view

Transcripts for DEFB116 Gene

mRNA/cDNA for DEFB116 Gene

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

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 for DEFB116 Gene

SOURCE GeneReport for Unigene cluster for DEFB116 Gene Hs.580703

genes like me logo Genes that share expressions 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 expression 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
chimpanzee
(Pan troglodytes)
Mammalia DEFB116 35
  • 100 (n)
  • 100 (a)
DEFB116 36
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CBD116 36
  • 73 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Defb29 35
  • 72.29 (n)
  • 57.14 (a)
Defb29 16
Defb29 36
  • 56 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Defb29 35
  • 75 (n)
  • 64.47 (a)
Species with no ortholog for DEFB116:
  • 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 Sequence Context AA Info Type MAF
rs1543866 -- 31,303,053(-) TAGGA(A/T)TGGCC downstream-variant-500B
rs2206379 -- 31,310,102(-) taagg(G/T)ataca upstream-variant-2KB
rs2376546 -- 31,309,227(+) CAATT(G/T)TTTTA upstream-variant-2KB
rs4142627 -- 31,304,935(+) GCCCA(A/G)TTTTA intron-variant
rs4270426 -- 31,307,826(+) CTTTA(A/G)GCAAA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv458960 CNV Gain 19166990
nsv470546 CNV Gain 18288195
nsv458961 CNV Gain 19166990

Relevant External Links for DEFB116 Gene

HapMap Linkage Disequilibrium report
DEFB116

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

Disorders for DEFB116 Gene

No disorders were found for DEFB116 Gene.

No data available for UniProtKB/Swiss-Prot 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
  2. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P. … Rogers J. (Nature 2001) 3 4
  3. 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

Products for DEFB116 Gene

Sources for DEFB116 Gene

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