Human Gene DEFB119 (ENST00000376321.4) from GENCODE V44
  Description: Homo sapiens defensin beta 119 (DEFB119), transcript variant 7, non-coding RNA. (from RefSeq NR_126440)
RefSeq Summary (NM_153289): This gene encodes a member of the beta subfamily of defensins. Beta-defensins are antimicrobial peptides that protect tissues and organs from infection by a variety of microorganisms. This gene is found in a cluster with other beta-defensin genes on the long arm of chromosome 20. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2014].
Gencode Transcript: ENST00000376321.4
Gencode Gene: ENSG00000180483.7
Transcript (Including UTRs)
   Position: hg38 chr20:31,377,164-31,390,590 Size: 13,427 Total Exon Count: 2 Strand: -
Coding Region
   Position: hg38 chr20:31,377,246-31,390,483 Size: 13,238 Coding Exon Count: 2 

Page IndexSequence and LinksUniProtKB CommentsPrimersRNA-Seq ExpressionMicroarray Expression
RNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA DescriptionsPathways
Other NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr20:31,377,164-31,390,590)mRNA (may differ from genome)Protein (84 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCLynxMGIneXtProtOMIMPubMed
ReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: DB119_HUMAN
DESCRIPTION: RecName: Full=Beta-defensin 119; AltName: Full=Beta-defensin 120; AltName: Full=Beta-defensin 19; Short=DEFB-19; AltName: Full=Beta-defensin 20; Short=DEFB-20; AltName: Full=Defensin, beta 119; AltName: Full=Defensin, beta 120; AltName: Full=ESC42-RELA; Flags: Precursor;
FUNCTION: Has antibacterial activity (Potential).
SUBCELLULAR LOCATION: Secreted (Potential).
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


-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 150.82 RPKM in Testis
Total median expression: 150.97 RPKM



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

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -29.10107-0.272 Picture PostScript Text
3' UTR -13.7082-0.167 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  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 Q8N690
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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
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

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

Biological Process:
GO:0006952 defense response
GO:0042742 defense response to bacterium
GO:0045087 innate immune response
GO:0050829 defense response to Gram-negative bacterium
GO:0050830 defense response to Gram-positive bacterium
GO:0061760 antifungal innate immune response

Cellular Component:
GO:0005576 extracellular region
GO:0009986 cell surface


-  Descriptions from all associated GenBank mRNAs
  KJ895884 - Synthetic construct Homo sapiens clone ccsbBroadEn_05278 DEFB119 gene, encodes complete protein.
BC062212 - Homo sapiens defensin, beta 119, mRNA (cDNA clone MGC:71893 IMAGE:6621528), complete cds.
AY122472 - Homo sapiens defensin beta 119 (DEFB119) mRNA, complete cds.
LP896227 - Sequence 1091 from Patent EP3253886.
AY358860 - Homo sapiens clone DNA101925 DEFB119 (UNQ2449) mRNA, complete cds.
AY501001 - Homo sapiens beta-defensin 119 isoform b (DEFB119) mRNA, complete cds, alternatively spliced.
JD239656 - Sequence 220680 from Patent EP1572962.
JD062409 - Sequence 43433 from Patent EP1572962.
AF479698 - Homo sapiens ESC42-RELA mRNA, complete cds.
AY122473 - Homo sapiens defensin beta 120 (DEFB120) mRNA, complete cds.
AF479699 - Homo sapiens ESC42-RELB mRNA, complete cds.
JD371374 - Sequence 352398 from Patent EP1572962.
JD535609 - Sequence 516633 from Patent EP1572962.
JD156268 - Sequence 137292 from Patent EP1572962.
JD468130 - Sequence 449154 from Patent EP1572962.

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

Protein Q8N690 (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: DB119_HUMAN, DEFB120, DEFB19, DEFB20, ENST00000376321.1, ENST00000376321.2, ENST00000376321.3, NR_126440, Q5GRG1, Q5JWP1, Q5TH42, Q8N689, Q8N690, uc002wvt.1, uc002wvt.2, uc002wvt.3, uc002wvt.4, uc002wvt.5, uc002wvt.6, UNQ2449/PRO5729
UCSC ID: ENST00000376321.4
RefSeq Accession: NM_153289
Protein: Q8N690 (aka DB119_HUMAN or D119_HUMAN)
CCDS: CCDS13178.1

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