Human Gene DEFA3 (ENST00000327857.7_8) from GENCODE V47lift37
  Description: defensin alpha 3 (from RefSeq NM_005217.4)
Gencode Transcript: ENST00000327857.7_8
Gencode Gene: ENSG00000239839.7_10
Transcript (Including UTRs)
   Position: hg19 chr8:6,873,391-6,875,819 Size: 2,429 Total Exon Count: 3 Strand: -
Coding Region
   Position: hg19 chr8:6,873,512-6,874,372 Size: 861 Coding Exon Count: 2 

Page IndexSequence and LinksPrimersMalaCardsGene AllelesRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
Other NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr8:6,873,391-6,875,819)mRNA (may differ from genome)Protein (94 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MalacardsMGIOMIMPubMedUniProtKBWikipedia
BioGrid CRISPR DB

-  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


-  MalaCards Disease Associations
  MalaCards Gene Search: DEFA3
Diseases sorted by gene-association score: bell's palsy (8), west nile fever (7), mite infestation (6), multidrug-resistant tuberculosis (6), clostridium difficile colitis (5)

+  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: 411.74 RPKM in Whole Blood
Total median expression: 534.93 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 -24.6088-0.280 Picture PostScript Text
3' UTR -18.70121-0.155 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
IPR016327 - Alpha-defensin
IPR006080 - Defensin_beta/neutrophil
IPR002366 - Defensin_propep
IPR006081 - Mammalian_defensins

Pfam Domains:
PF00323 - Mammalian defensin
PF00879 - Defensin propeptide

SCOP Domains:
57392 - Defensin-like

ModBase Predicted Comparative 3D Structure on Q6EZE9
FrontTopSide
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 orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
      
      
      
      
      

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

Cellular Component:
GO:0005576 extracellular region
GO:0005615 extracellular space


-  Descriptions from all associated GenBank mRNAs
  X52053 - Human mRNA for HP-1, a member of the corticostatin/defensin family.
BC027917 - Homo sapiens defensin, alpha 3, neutrophil-specific, mRNA (cDNA clone MGC:34189 IMAGE:5226993), complete cds.
M21131 - Homo sapiens neutrophil peptide 3 precursor, mRNA, partial cds.
M23281 - Human defensin mRNA, complete cds, clone HNP-3.
JD261186 - Sequence 242210 from Patent EP1572962.
BC119706 - Homo sapiens defensin, alpha 3, neutrophil-specific, mRNA (cDNA clone MGC:149652 IMAGE:40117146), complete cds.
BC093791 - Homo sapiens defensin, alpha 1, mRNA (cDNA clone MGC:120826 IMAGE:7939636), complete cds.
BC112188 - Homo sapiens defensin, alpha 1, mRNA (cDNA clone MGC:138393 IMAGE:8327656), complete cds.
JD323525 - Sequence 304549 from Patent EP1572962.
X13621 - Human HNP-3 mRNA for defensin, expressed in promyelocytes and myelocytes.
BC069423 - Homo sapiens defensin, alpha 1, mRNA (cDNA clone MGC:97418 IMAGE:7262694), complete cds.
KJ891041 - Synthetic construct Homo sapiens clone ccsbBroadEn_00435 DEFA3 gene, encodes complete protein.
DQ890545 - Synthetic construct Homo sapiens clone IMAGE:100003175; FLH263526.01X; RZPDo839A09162D defensin, alpha 1 (DEFA1) gene, encodes complete protein.
DQ890546 - Synthetic construct clone IMAGE:100003176; FLH163920.01X; RZPDo839A10162D defensin, alpha 1 (DEFA1) gene, encodes complete protein.
DQ896798 - Synthetic construct Homo sapiens clone IMAGE:100011258; FLH163916.01L; RZPDo839A10161D defensin, alpha 1 (DEFA1) gene, encodes complete protein.
EU176174 - Synthetic construct Homo sapiens clone IMAGE:100006551; FLH263527.01X; RZPDo839B02250D defensin, alpha 3, neutrophil-specific (DEFA3) gene, encodes complete protein.
AB590423 - Synthetic construct DNA, clone: pFN21AE1105, Homo sapiens DEFA3 gene for defensin, alpha 3, neutrophil-specific, without stop codon, in Flexi system.
JD065533 - Sequence 46557 from Patent EP1572962.
JD062207 - Sequence 43231 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: DEFA3 , ENST00000327857.1, ENST00000327857.2, ENST00000327857.3, ENST00000327857.4, ENST00000327857.5, ENST00000327857.6, NM_005217, Q6EZE9, Q6EZE9_HUMAN, uc317sjk.1, uc317sjk.2
UCSC ID: ENST00000327857.7_8
RefSeq Accession: NM_005217.4
Protein: Q6EZE9

-  Gene Model Information
  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.