Human Gene DEFB123 (uc002wvy.3)
  Description: Homo sapiens defensin, beta 123 (DEFB123), mRNA.
RefSeq Summary (NM_153324): Defensins are cysteine-rich cationic polypeptides that are important in the host immunologic response to invading microorganisms. This antimicrobial protein is secreted and is a member of the beta defensin protein family. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 20q11.1. Two transcript variants, one protein-coding and the other not, have been found for this gene. [provided by RefSeq, Nov 2014].
Transcript (Including UTRs)
   Position: hg19 chr20:30,028,411-30,038,060 Size: 9,650 Total Exon Count: 2 Strand: +
Coding Region
   Position: hg19 chr20:30,028,502-30,037,977 Size: 9,476 Coding Exon Count: 2 

Page IndexSequence and LinksUniProtKB CommentsPrimersGene AllelesRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr20:30,028,411-30,038,060)mRNA (may differ from genome)Protein (67 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
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OMIMPubMedReactomeTreefamUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: DB123_HUMAN
DESCRIPTION: RecName: Full=Beta-defensin 123; AltName: Full=Beta-defensin 23; Short=DEFB-23; AltName: Full=Defensin, beta 123; 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


+  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: 98.93 RPKM in Testis
Total median expression: 98.93 RPKM



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

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -33.2791-0.366 Picture PostScript Text
3' UTR -14.5083-0.175 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 Q8N688
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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 orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Biological Process:
GO:0006952 defense response
GO:0042742 defense response to bacterium
GO:0045087 innate immune response

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


-  Descriptions from all associated GenBank mRNAs
  KJ895886 - Synthetic construct Homo sapiens clone ccsbBroadEn_05280 DEFB123 gene, encodes complete protein.
AY122475 - Homo sapiens defensin beta 123 (DEFB123) mRNA, complete cds.
JD351892 - Sequence 332916 from Patent EP1572962.
AY358859 - Homo sapiens clone DNA101924 DEFB123 (UNQ1963) mRNA, complete cds.
AY501002 - Homo sapiens beta-defensin 123 isoform b (DEFB123) mRNA, complete cds, alternatively spliced.
JD535663 - Sequence 516687 from Patent EP1572962.
JD250726 - Sequence 231750 from Patent EP1572962.
BC126365 - Homo sapiens defensin, beta 123, mRNA (cDNA clone MGC:161643 IMAGE:8992081), complete cds.
BC126391 - Homo sapiens defensin, beta 123, mRNA (cDNA clone MGC:161669 IMAGE:8992107), complete cds.
AF479701 - Homo sapiens ESC42-RELD mRNA, complete cds.
JD060298 - Sequence 41322 from Patent EP1572962.
JD273847 - Sequence 254871 from Patent EP1572962.

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

Protein Q8N688 (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: DB123_HUMAN, DEFB23, NM_153324, NP_697019, Q8N688, UNQ1963/PRO4485
UCSC ID: uc002wvy.3
RefSeq Accession: NM_153324
Protein: Q8N688 (aka DB123_HUMAN or D123_HUMAN)
CCDS: CCDS13180.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_153324.2
exon count: 2CDS single in 3' UTR: no RNA size: 397
ORF size: 204CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 550.00frame shift in genome: no % Coverage: 95.21
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.