Human Gene DEFB114 (uc011dwp.2)
  Description: Homo sapiens defensin, beta 114 (DEFB114), mRNA.
RefSeq Summary (NM_001037499): 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]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000322066.4/ ENSP00000312702.3 Protein has antimicrobial activity :: PMID: 23482568 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END##
Transcript (Including UTRs)
   Position: hg19 chr6:49,928,005-49,931,818 Size: 3,814 Total Exon Count: 2 Strand: -
Coding Region
   Position: hg19 chr6:49,928,005-49,931,818 Size: 3,814 Coding Exon Count: 2 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr6:49,928,005-49,931,818)mRNA (may differ from genome)Protein (69 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
HGNCHPRDLynxMGIneXtProtOMIM
PubMedReactomeTreefamUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: DB114_HUMAN
DESCRIPTION: RecName: Full=Beta-defensin 114; AltName: Full=Beta-defensin 14; Short=DEFB-14; AltName: Full=Defensin, beta 114; Flags: Precursor;
FUNCTION: Has antibacterial activity (By similarity).
SUBCELLULAR LOCATION: Secreted (By similarity).
SIMILARITY: Belongs to the beta-defensin family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): DEFB114
CDC HuGE Published Literature: DEFB114

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 0.00 RPKM in Adipose - Subcutaneous
Total median expression: 0.00 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR025933 - Beta_defensin

Pfam Domains:
PF13841 - Beta defensin

ModBase Predicted Comparative 3D Structure on Q30KQ6
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
      
      
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0001530 lipopolysaccharide binding

Biological Process:
GO:0006952 defense response
GO:0031665 negative regulation of lipopolysaccharide-mediated signaling pathway
GO:0042742 defense response to bacterium
GO:0043407 negative regulation of MAP kinase activity
GO:0045087 innate immune response
GO:0050729 positive regulation of inflammatory response
GO:0050829 defense response to Gram-negative bacterium
GO:0050830 defense response to Gram-positive bacterium
GO:0061760 antifungal innate immune response
GO:1904468 negative regulation of tumor necrosis factor secretion

Cellular Component:
GO:0005576 extracellular region


-  Descriptions from all associated GenBank mRNAs
  AY122470 - Homo sapiens defensin beta 114 (DEFB114) mRNA, partial cds.
DQ012018 - Homo sapiens beta-defensin 114 (DEFB114) mRNA, complete cds.
BC156851 - Synthetic construct Homo sapiens clone IMAGE:100062518, MGC:190538 defensin, beta 114 (DEFB114) mRNA, encodes complete protein.
AB528815 - Synthetic construct DNA, clone: pF1KE0286, Homo sapiens DEFB114 gene for defensin, beta 114, without stop codon, in Flexi system.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q30KQ6 (Reactome details) participates in the following event(s):

R-HSA-1471322 Beta-defensins are secreted
R-HSA-1461973 Defensins
R-HSA-1461957 Beta defensins
R-HSA-6803157 Antimicrobial peptides
R-HSA-168249 Innate Immune System
R-HSA-168256 Immune System

-  Other Names for This Gene
  Alternate Gene Symbols: DB114_HUMAN, DEFB14, NM_001037499, NP_001032588, Q30KQ6, Q8NES9
UCSC ID: uc011dwp.2
RefSeq Accession: NM_001037499
Protein: Q30KQ6 (aka DB114_HUMAN)
CCDS: CCDS34474.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001037499.1
exon count: 2CDS single in 3' UTR: no RNA size: 210
ORF size: 210CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 520.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.