Human Gene DEFB103A (ENST00000314357.4) from GENCODE V44
  Description: Homo sapiens defensin beta 103A (DEFB103A), mRNA. (from RefSeq NM_001081551)
RefSeq Summary (NM_001081551): Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Members of the defensin family are highly similar in protein sequence. This gene encodes defensin, beta 103, an antibiotic peptide which is induced by bacteria and interferon gamma, and which displays antimicrobial activity against S. aureus, S. pyogenes, P. aeruginosa, E. coli, and C. albicans. [provided by RefSeq, Oct 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.
Gencode Transcript: ENST00000314357.4
Gencode Gene: ENSG00000176797.4
Transcript (Including UTRs)
   Position: hg38 chr8:7,881,392-7,882,663 Size: 1,272 Total Exon Count: 2 Strand: +
Coding Region
   Position: hg38 chr8:7,881,422-7,882,568 Size: 1,147 Coding Exon Count: 2 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr8:7,881,392-7,882,663)mRNA (may differ from genome)Protein (67 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
PubMedReactomeUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: D103A_HUMAN
DESCRIPTION: RecName: Full=Beta-defensin 103; AltName: Full=Beta-defensin 3; Short=BD-3; Short=DEFB-3; Short=HBD3; Short=hBD-3; AltName: Full=Defensin, beta 103; AltName: Full=Defensin-like protein; Flags: Precursor;
FUNCTION: Exhibits antimicrobial activity against Gram-positive bacteria S.aureus and S.pyogenes, Gram-negative bacteria P.aeruginosa and E.coli and the yeast C.albicans. Kills multiresistant S.aureus and vancomycin-resistant E.faecium. No significant hemolytic activity was observed.
SUBCELLULAR LOCATION: Secreted.
TISSUE SPECIFICITY: Highly expressed in skin and tonsils, and to a lesser extent in trachea, uterus, kidney, thymus, adenoid, pharynx and tongue. Low expression in salivary gland, bone marrow, colon, stomach, polyp and larynx. No expression in small intestine.
INDUCTION: By bacterial infection and by IFNG/IFN-gamma.
MASS SPECTROMETRY: Mass=5154.59; Method=Electrospray; Range=23-67; Source=PubMed:11085990;
SIMILARITY: Belongs to the beta-defensin family.

-  Primer design for this transcript
 

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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


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

-  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
  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 -6.5030-0.217 Picture PostScript Text
3' UTR -8.0095-0.084 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
IPR001855 - Defensin_beta-typ

Pfam Domains:
PF00711 - Beta defensin

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1KJ6 - NMR MuPIT


ModBase Predicted Comparative 3D Structure on P81534
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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
  Biological Process:
GO:0006952 defense response
GO:0019730 antimicrobial humoral response
GO:0031640 killing of cells of other organism
GO:0042742 defense response to bacterium
GO:0050829 defense response to Gram-negative bacterium
GO:0050830 defense response to Gram-positive bacterium

Cellular Component:
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005796 Golgi lumen


-  Descriptions from all associated GenBank mRNAs
  AF301470 - Homo sapiens beta-defensin 3 mRNA, complete cds.
AF295370 - Homo sapiens beta-defensin 3 mRNA, complete cds.
AJ237673 - Homo sapiens mRNA for beta-defensin-3.
AB037972 - Homo sapiens mRNA for defensin like protein, complete cds.
JD144462 - Sequence 125486 from Patent EP1572962.
AB590071 - Synthetic construct DNA, clone: pFN21AE1396, Homo sapiens DEFB103A gene for defensin, beta 103A, without stop codon, in Flexi system.
BC148674 - Synthetic construct Homo sapiens clone IMAGE:100015611, MGC:183126 defensin, beta 103B (DEFB103B) mRNA, encodes complete protein.
AF217245 - Homo sapiens beta defensin-3 mRNA, complete cds.
AF516673 - Homo sapiens beta-defensin-3 mRNA, complete cds.
BC111596 - Synthetic construct Homo sapiens clone IMAGE:40080561, MGC:133424 DEFB103A protein (DEFB103A) mRNA, encodes complete protein.
EU918408 - Homo sapiens beta-defensin-like protein mRNA, complete cds.

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

Protein P81534 (Reactome details) participates in the following event(s):

R-HSA-1974676 Beta defensin 103 activates TLR1:TLR2
R-HSA-1471322 Beta-defensins are secreted
R-HSA-1467209 Binding of defensins to lipid II
R-HSA-1973968 Beta-defensins 4A and 103 bind CCR2
R-HSA-1471338 Beta-defensins 1, 4A and 103 bind CCR6
R-HSA-1461957 Beta defensins
R-HSA-1461973 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: BD3, D103A_HUMAN, DEFB103, DEFB103B, DEFB3, ENST00000314357.1, ENST00000314357.2, ENST00000314357.3, NM_001081551, P81534, Q8NFG6, Q9NPF6, uc003wsc.1, uc003wsc.2, uc003wsc.3, uc003wsc.4, uc003wsc.5
UCSC ID: ENST00000314357.4
RefSeq Accession: NM_001081551
Protein: P81534 (aka D103A_HUMAN)
CCDS: CCDS43701.1

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