Human Gene DEFB121 (ENST00000376314.3) from GENCODE V44
  Description: Homo sapiens defensin beta 121 (DEFB121), transcript variant 1, mRNA. (from RefSeq NM_001011878)
RefSeq Summary (NM_001011878): 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. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2014].
Gencode Transcript: ENST00000376314.3
Gencode Gene: ENSG00000204548.4
Transcript (Including UTRs)
   Position: hg38 chr20:31,404,845-31,406,215 Size: 1,371 Total Exon Count: 2 Strand: -
Coding Region
   Position: hg38 chr20:31,404,913-31,406,152 Size: 1,240 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 (chr20:31,404,845-31,406,215)mRNA (may differ from genome)Protein (76 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: DB121_HUMAN
DESCRIPTION: RecName: Full=Beta-defensin 121; AltName: Full=Beta-defensin 21; Short=DEFB-21; AltName: Full=Defensin, beta 121; 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: 3.21 RPKM in Testis
Total median expression: 3.21 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 -9.7063-0.154 Picture PostScript Text
3' UTR -6.4068-0.094 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 Q5J5C9
FrontTopSide
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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:0003674 molecular_function
GO:0005515 protein binding

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
  KJ895885 - Synthetic construct Homo sapiens clone ccsbBroadEn_05279 DEFB121 gene, encodes complete protein.
BC130607 - Homo sapiens defensin, beta 121, mRNA (cDNA clone MGC:163479 IMAGE:40146638), complete cds.
BC130609 - Homo sapiens defensin, beta 121, mRNA (cDNA clone MGC:163481 IMAGE:40146640), complete cds.
AY501000 - Homo sapiens beta-defensin 121 (DEFB121) mRNA, complete cds.
GQ891340 - Homo sapiens clone HEL-S-111d epididymis secretory sperm binding protein mRNA, complete cds.
AF479700 - Homo sapiens ESC42-RELC mRNA, complete cds.
HQ258031 - Synthetic construct Homo sapiens clone IMAGE:100072340 defensin, beta 121 (DEFB121) gene, encodes complete protein.

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

Protein Q5J5C9 (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: A1L4N1, DB121_HUMAN, DEFB21, ENST00000376314.1, ENST00000376314.2, NM_001011878, Q5J5C9, uc002wvv.1, uc002wvv.2, uc002wvv.3, uc002wvv.4
UCSC ID: ENST00000376314.3
RefSeq Accession: NM_001011878
Protein: Q5J5C9 (aka DB121_HUMAN)
CCDS: CCDS33456.1

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