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Aliases for DEFB109P1 Gene

Aliases for DEFB109P1 Gene

  • Defensin Beta 109 Pseudogene 1 2 3 5
  • Defensin, Beta 109 2 4
  • DEFB109A 3 4
  • DEFB109 3 4
  • Defensin, Beta 109, Pseudogene 1/1B 4
  • Defensin, Beta 109, Pseudogene 1 2
  • Defensin, Beta 9 Pseudogene 3
  • DEFB109P1 DEFB109P1B 4
  • DEFB-9 3

External Ids for DEFB109P1 Gene

Previous HGNC Symbols for DEFB109P1 Gene

  • DEFB109

Previous GeneCards Identifiers for DEFB109P1 Gene

  • GC08U900543
  • GC08M007887
  • GC08M007847
  • GC08M012251
  • GC08M012253

Summaries for DEFB109P1 Gene

GeneCards Summary for DEFB109P1 Gene

DEFB109P1 (Defensin Beta 109 Pseudogene 1) is a Pseudogene. Among its related pathways are Immune System and Defensins.

UniProtKB/Swiss-Prot for DEFB109P1 Gene

  • Has antibacterial activity.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DEFB109P1 Gene

Genomics for DEFB109P1 Gene

Regulatory Elements for DEFB109P1 Gene

Enhancers for DEFB109P1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH08F012391 0.5 Ensembl 0.4 +8.9 8866 0.2 ESRRA IKZF1 ZIC2 DEFB109P1 LOC649352
GH08F012392 0.4 Ensembl 0.4 +8.4 8366 0.4 ZFHX2 DEFB109P1 LOC649352
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DEFB109P1 on UCSC Golden Path with GeneCards custom track

Genomic Location for DEFB109P1 Gene

12,393,209 bp from pter
12,400,366 bp from pter
7,158 bases
Minus strand

Genomic View for DEFB109P1 Gene

Genes around DEFB109P1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DEFB109P1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DEFB109P1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DEFB109P1 Gene

Proteins for DEFB109P1 Gene

  • Protein details for DEFB109P1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Beta-defensin 109
    Protein Accession:

    Protein attributes for DEFB109P1 Gene

    87 amino acids
    Molecular mass:
    9886 Da
    Quaternary structure:
    No Data Available

neXtProt entry for DEFB109P1 Gene

Post-translational modifications for DEFB109P1 Gene

No Post-translational modifications

No data available for DME Specific Peptides for DEFB109P1 Gene

Domains & Families for DEFB109P1 Gene

Gene Families for DEFB109P1 Gene

Protein Domains for DEFB109P1 Gene


Graphical View of Domain Structure for InterPro Entry



  • Belongs to the beta-defensin family.
  • Belongs to the beta-defensin family.
genes like me logo Genes that share domains with DEFB109P1: view

No data available for Suggested Antigen Peptide Sequences for DEFB109P1 Gene

Function for DEFB109P1 Gene

Molecular function for DEFB109P1 Gene

UniProtKB/Swiss-Prot Function:
Has antibacterial activity.

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for DEFB109P1 Gene

Localization for DEFB109P1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DEFB109P1 Gene

Gene Ontology (GO) - Cellular Components for DEFB109P1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
genes like me logo Genes that share ontologies with DEFB109P1: view

No data available for Subcellular locations from COMPARTMENTS for DEFB109P1 Gene

Pathways & Interactions for DEFB109P1 Gene

SuperPathways for DEFB109P1 Gene

SuperPathway Contained pathways
1 Defensins
2 Immune System
genes like me logo Genes that share pathways with DEFB109P1: view

Pathways by source for DEFB109P1 Gene

4 Reactome pathways for DEFB109P1 Gene

Interacting Proteins for DEFB109P1 Gene

Gene Ontology (GO) - Biological Process for DEFB109P1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0042742 defense response to bacterium IEA --
genes like me logo Genes that share ontologies with DEFB109P1: view

No data available for SIGNOR curated interactions for DEFB109P1 Gene

Transcripts for DEFB109P1 Gene

mRNA/cDNA for DEFB109P1 Gene

(4) Additional mRNA sequences :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for DEFB109P1 Gene

Defensin, beta 109, pseudogene 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for DEFB109P1 Gene

No ASD Table

Relevant External Links for DEFB109P1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for DEFB109P1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DEFB109P1 Gene

mRNA differential expression in normal tissues according to GTEx for DEFB109P1 Gene

This gene is overexpressed in Testis (x5.2).

NURSA nuclear receptor signaling pathways regulating expression of DEFB109P1 Gene:


SOURCE GeneReport for Unigene cluster for DEFB109P1 Gene:

genes like me logo Genes that share expression patterns with DEFB109P1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for DEFB109P1 Gene

Orthologs for DEFB109P1 Gene

Evolution for DEFB109P1 Gene

Gene Tree for DEFB109P1 (if available)
Gene Tree for DEFB109P1 (if available)

No data available for Orthologs for DEFB109P1 Gene

Paralogs for DEFB109P1 Gene

(4) SIMAP similar genes for DEFB109P1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with DEFB109P1: view

No data available for Paralogs for DEFB109P1 Gene

Variants for DEFB109P1 Gene

Sequence variations from dbSNP and Humsavar for DEFB109P1 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs111993673 -- 12,399,762(+) CATAT(A/C)ATTTT intron-variant
rs112013247 -- 12,400,032(+) GTGGG(A/G)CATGG intron-variant
rs11204011 -- 12,397,940(+) TACTG(C/G)GATTA intron-variant
rs113146755 -- 12,393,908(+) TCTTT(C/T)TTTTT intron-variant
rs11783035 -- 12,393,116(+) CAAGA(C/T)AGTTA intron-variant, downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for DEFB109P1 Gene

Variant ID Type Subtype PubMed ID
nsv1076047 CNV deletion 25765185
nsv1034659 CNV loss 25217958
nsv1032964 CNV gain 25217958
nsv1031577 CNV gain 25217958
nsv1029157 CNV gain 25217958
nsv1028208 CNV loss 25217958
nsv1027709 CNV gain+loss 25217958
nsv1026778 CNV gain 25217958
nsv1023986 CNV loss 25217958
nsv1020906 CNV loss 25217958
esv3891341 CNV gain 25118596
esv3891324 CNV gain 25118596
esv3891318 CNV gain 25118596
esv3616274 CNV loss 21293372
esv3616114 CNV loss 21293372
esv33606 CNV gain+loss 17666407
esv2764098 CNV gain+loss 21179565
esv2761169 CNV gain+loss 21179565
esv2759593 CNV gain+loss 17122850
esv2759589 CNV gain+loss 17122850
esv2736614 CNV deletion 23290073
esv2675221 CNV deletion 23128226
esv2672709 CNV deletion 23128226
esv25198 CNV gain+loss 19812545
esv21583 CNV gain+loss 19812545
dgv7067n100 CNV loss 25217958
dgv7066n100 CNV gain 25217958
dgv7065n100 CNV gain+loss 25217958
dgv7064n100 CNV loss 25217958
dgv7063n100 CNV gain+loss 25217958
dgv7062n100 CNV loss 25217958
dgv7061n100 CNV loss 25217958
dgv7060n100 CNV loss 25217958
dgv7059n100 CNV loss 25217958
dgv7058n100 CNV loss 25217958
dgv7057n100 CNV loss 25217958
dgv7056n100 CNV gain 25217958
dgv7055n100 CNV gain+loss 25217958
dgv7054n100 CNV gain 25217958
dgv7053n100 CNV loss 25217958
dgv7052n100 CNV gain+loss 25217958
dgv7051n100 CNV gain 25217958
dgv7050n100 CNV gain+loss 25217958
dgv7049n100 CNV gain 25217958
dgv7048n100 CNV loss 25217958
dgv7047n100 CNV gain+loss 25217958
dgv7046n100 CNV gain+loss 25217958
dgv7045n100 CNV gain+loss 25217958
dgv7044n100 CNV loss 25217958
dgv7043n100 CNV gain 25217958
dgv7040n100 CNV gain 25217958
dgv7039n100 CNV gain+loss 25217958
dgv7037n100 CNV loss 25217958
dgv7036n100 CNV gain 25217958
dgv7035n100 CNV loss 25217958
dgv7034n100 CNV gain+loss 25217958
dgv7033n100 CNV gain 25217958
dgv7032n100 CNV gain 25217958
dgv7031n100 CNV loss 25217958
dgv7030n100 CNV gain 25217958
dgv7026n100 CNV gain+loss 25217958
dgv7025n100 CNV gain 25217958
dgv7021n100 CNV loss 25217958
dgv7020n100 CNV loss 25217958
dgv7019n100 CNV gain 25217958
dgv7018n100 CNV gain+loss 25217958
dgv7017n100 CNV gain 25217958
dgv7016n100 CNV gain 25217958
dgv7015n100 CNV gain 25217958
dgv6912n100 CNV loss 25217958
dgv6911n100 CNV loss 25217958
dgv6910n100 CNV gain+loss 25217958
dgv6909n100 CNV gain 25217958
dgv6908n100 CNV gain 25217958
dgv6907n100 CNV loss 25217958
dgv6906n100 CNV gain 25217958
dgv6905n100 CNV gain 25217958
dgv6904n100 CNV gain 25217958
dgv6903n100 CNV loss 25217958
dgv6902n100 CNV gain 25217958
dgv6901n100 CNV gain+loss 25217958
dgv6900n100 CNV gain+loss 25217958
dgv6899n100 CNV gain 25217958
dgv6898n100 CNV loss 25217958
dgv6897n100 CNV gain 25217958
dgv6896n100 CNV gain+loss 25217958
dgv6895n100 CNV loss 25217958
dgv6894n100 CNV gain+loss 25217958
dgv6893n100 CNV gain 25217958
dgv6892n100 CNV loss 25217958
dgv6891n100 CNV gain+loss 25217958
dgv6890n100 CNV gain 25217958
dgv6889n100 CNV loss 25217958
dgv6888n100 CNV gain+loss 25217958
dgv6887n100 CNV loss 25217958
dgv6885n100 CNV gain 25217958
dgv6884n100 CNV gain 25217958
dgv6882n100 CNV gain 25217958
dgv6879n100 CNV gain 25217958
dgv6878n100 CNV gain 25217958
dgv3775n106 CNV deletion 24896259
dgv264n111 CNV duplication 26073780
dgv263n111 CNV deletion 26073780
dgv246e55 CNV gain 17911159
dgv245e55 CNV gain 17911159
dgv244e55 CNV gain 17911159
dgv2035e212 CNV gain 25503493
dgv154e203 CNV gain+loss 21179565
dgv140n17 CNV loss 16327808
dgv1376e214 CNV gain 21293372
dgv1270e199 CNV deletion 23128226
dgv11968n54 CNV gain 21841781
dgv11967n54 CNV gain 21841781
dgv11911n54 CNV loss 21841781
nsv981913 CNV duplication 23825009
nsv981904 CNV duplication 23825009
nsv951106 CNV deletion 24416366
nsv951091 CNV deletion 24416366
nsv831235 CNV loss 17160897
nsv831234 CNV loss 17160897
nsv831225 CNV loss 17160897
nsv831224 CNV gain+loss 17160897
nsv831223 CNV loss 17160897
nsv8288 CNV gain+loss 18304495
nsv8281 CNV gain+loss 18304495
nsv821657 CNV loss 15273396
nsv821656 CNV gain 15273396
nsv516685 CNV gain+loss 19592680
nsv515968 CNV gain+loss 19592680
nsv515099 CNV gain 21397061
nsv511387 CNV loss 21212237
nsv510977 OTHER complex 20534489
nsv509249 CNV insertion 20534489
nsv508495 CNV deletion 20534489
nsv471652 CNV gain+loss 15918152
nsv471650 CNV gain+loss 15918152
nsv469553 CNV loss 16826518
nsv428195 CNV gain 18775914
nsv428194 CNV gain+loss 18775914
nsv1161723 CNV duplication 26073780
nsv1161710 CNV deletion 26073780
nsv1161709 CNV duplication 26073780
nsv1144219 CNV deletion 24896259
nsv1115781 CNV duplication 24896259

Relevant External Links for DEFB109P1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for DEFB109P1 Gene

Disorders for DEFB109P1 Gene

Relevant External Links for DEFB109P1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:

No disorders were found for DEFB109P1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for DEFB109P1 Gene

Publications for DEFB109P1 Gene

  1. Cross-species analysis of the mammalian beta-defensin gene family: presence of syntenic gene clusters and preferential expression in the male reproductive tract. (PMID: 16033865) Patil A.A. … Zhang G. (Physiol. Genomics 2005) 3 4 64
  2. Discovery of five conserved beta-defensin gene clusters using a computational search strategy. (PMID: 11854508) Schutte B.C. … McCray P.B. Jr. (Proc. Natl. Acad. Sci. U.S.A. 2002) 2 3 64
  3. ORFeome-based search of airway epithelial cell-specific novel human beta-defensin genes. (PMID: 12600824) Kao C.Y. … Wu R. (Am. J. Respir. Cell Mol. Biol. 2003) 3 64
  4. Duplication and selection in the evolution of primate beta-defensin genes. (PMID: 12734011) Semple C.A.M. … Dorin J.R. (Genome Biol. 2003) 3 64

Products for DEFB109P1 Gene

Sources for DEFB109P1 Gene

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