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Aliases for DEFB129 Gene

Aliases for DEFB129 Gene

  • Defensin Beta 129 2 3 5
  • Defensin, Beta 129 2 4
  • Beta-Defensin 29 3 4
  • C20orf87 3 4
  • DEFB-29 3 4
  • DEFB29 3 4
  • Chromosome 20 Open Reading Frame 87 2
  • Beta-Defensin 129 3
  • BA530N10.3 3
  • HBD-29 3

External Ids for DEFB129 Gene

Previous HGNC Symbols for DEFB129 Gene

  • C20orf87

Previous GeneCards Identifiers for DEFB129 Gene

  • GC20P000195
  • GC20P000202
  • GC20P000155
  • GC20P000215

Summaries for DEFB129 Gene

Entrez Gene Summary for DEFB129 Gene

  • Defensins are cysteine-rich cationic polypeptides that are important in the immunologic response to invading microorganisms. The antimicrobial protein encoded by this gene 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 20p13. [provided by RefSeq, Nov 2014]

GeneCards Summary for DEFB129 Gene

DEFB129 (Defensin Beta 129) is a Protein Coding gene. Among its related pathways are Immune System and Defensins.

UniProtKB/Swiss-Prot for DEFB129 Gene

  • Has antibacterial activity.

Gene Wiki entry for DEFB129 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DEFB129 Gene

Genomics for DEFB129 Gene

Regulatory Elements for DEFB129 Gene

Enhancers for DEFB129 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
GH20F000323 1.2 ENCODE 26.2 +99.3 99250 7.0 HDGF PKNOX1 CREB3L1 MLX WRNIP1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 DEFB129 ENSG00000272874 DEFB126 DEFB125 ZCCHC3 C20orf96 NRSN2 NRSN2-AS1 DEFB132 GC20P000328
GH20F000368 1.8 FANTOM5 Ensembl ENCODE 16.2 +145.3 145263 8.0 ARNT CREB3L1 MLX ZFP64 ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF766 TBC1D20 TRIB3 ENSG00000272874 DEFB129 DEFB126 DEFB125 RBCK1 SRXN1 ENSG00000206797 CSNK2A1
GH20F000359 1.5 Ensembl ENCODE 16.2 +136.6 136561 8.0 MLX CREB3L1 ZFP64 FEZF1 DMAP1 YBX1 YY1 SLC30A9 ZNF143 ZNF263 TBC1D20 ACTG1P3 ENSG00000272874 DEFB129 DEFB126 DEFB125 CSNK2A1 RBCK1 ENSG00000206797 C20orf96
GH20F000345 1.2 ENCODE 16.3 +120.4 120429 3.7 HDGF PKNOX1 ARNT MLX CREB3L1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ENSG00000272874 DEFB129 DEFB126 DEFB125 SLC52A3 LOC101929937 NRSN2
GH20F000307 1.7 FANTOM5 Ensembl ENCODE 10.2 +82.8 82808 4.2 PKNOX1 ARNT ARID4B SIN3A FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF207 NRSN2 ACTG1P3 NRSN2-AS1 DEFB129 ZCCHC3 SOX12 SLC52A3
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DEFB129 on UCSC Golden Path with GeneCards custom track

Genomic Location for DEFB129 Gene

227,258 bp from pter
229,886 bp from pter
2,629 bases
Plus strand

Genomic View for DEFB129 Gene

Genes around DEFB129 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DEFB129 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DEFB129 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DEFB129 Gene

Proteins for DEFB129 Gene

  • Protein details for DEFB129 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Beta-defensin 129
    Protein Accession:
    Secondary Accessions:
    • Q8NES7

    Protein attributes for DEFB129 Gene

    183 amino acids
    Molecular mass:
    20299 Da
    Quaternary structure:
    No Data Available

neXtProt entry for DEFB129 Gene

Post-translational modifications for DEFB129 Gene

No Post-translational modifications

Other Protein References for DEFB129 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DEFB129 Gene

Domains & Families for DEFB129 Gene

Gene Families for DEFB129 Gene

Protein Domains for DEFB129 Gene

Suggested Antigen Peptide Sequences for DEFB129 Gene

GenScript: Design optimal peptide antigens:

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 DEFB129: view

Function for DEFB129 Gene

Molecular function for DEFB129 Gene

UniProtKB/Swiss-Prot Function:
Has antibacterial activity.
genes like me logo Genes that share phenotypes with DEFB129: view

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for DEFB129 Gene

Localization for DEFB129 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DEFB129 Gene


Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DEFB129 gene
Compartment Confidence
extracellular 5
cytosol 1

Gene Ontology (GO) - Cellular Components for DEFB129 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0009986 cell surface IBA --
genes like me logo Genes that share ontologies with DEFB129: view

Pathways & Interactions for DEFB129 Gene

SuperPathways for DEFB129 Gene

SuperPathway Contained pathways
1 Defensins
2 Immune System
genes like me logo Genes that share pathways with DEFB129: view

Pathways by source for DEFB129 Gene

4 Reactome pathways for DEFB129 Gene

Interacting Proteins for DEFB129 Gene

Selected Interacting proteins: Q9H1M3-DB129_HUMAN for DEFB129 Gene via IID

Gene Ontology (GO) - Biological Process for DEFB129 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006952 defense response IEA --
GO:0042742 defense response to bacterium IEA,IBA --
GO:0045087 innate immune response IBA --
genes like me logo Genes that share ontologies with DEFB129: view

No data available for SIGNOR curated interactions for DEFB129 Gene

Transcripts for DEFB129 Gene

mRNA/cDNA for DEFB129 Gene

(1) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(13) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for DEFB129 Gene

Defensin, beta 129:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for DEFB129 Gene

No ASD Table

Relevant External Links for DEFB129 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for DEFB129 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DEFB129 Gene

NURSA nuclear receptor signaling pathways regulating expression of DEFB129 Gene:


SOURCE GeneReport for Unigene cluster for DEFB129 Gene:


mRNA Expression by UniProt/SwissProt for DEFB129 Gene:

Tissue specificity: Expressed specifically in testis.
genes like me logo Genes that share expression patterns with DEFB129: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for DEFB129 Gene

Orthologs for DEFB129 Gene

This gene was present in the common ancestor of mammals.

Orthologs for DEFB129 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia DEFB129 34 35
  • 100 (n)
(Bos Taurus)
Mammalia BBD129 34
  • 79.05 (n)
DEFB129 35
  • 64 (a)
(Canis familiaris)
Mammalia DEFB129 34
  • 78.64 (n)
CBD129 35
  • 63 (a)
(Mus musculus)
Mammalia Defb23 34 16 35
  • 67.09 (n)
(Rattus norvegicus)
Mammalia Defb23 34
  • 66.23 (n)
Species where no ortholog for DEFB129 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for DEFB129 Gene

Gene Tree for DEFB129 (if available)
Gene Tree for DEFB129 (if available)

Paralogs for DEFB129 Gene

No data available for Paralogs for DEFB129 Gene

Variants for DEFB129 Gene

Sequence variations from dbSNP and Humsavar for DEFB129 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs1053783 -- 229,665(+) TAACA(C/G)CAAAG reference, missense
rs111503819 -- 227,694(+) AGCCC(-/T)TTTTT intron-variant
rs111562435 -- 229,470(+) GCTAA(A/G)ACCTG reference, missense
rs111727140 -- 230,287(+) CTCAC(A/T)GCAAC downstream-variant-500B
rs112090903 -- 227,282(+) TGGCA(C/T)CCAAC utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for DEFB129 Gene

Variant ID Type Subtype PubMed ID
dgv4219n100 CNV gain 25217958
dgv65n68 CNV loss 17160897
dgv770e214 CNV gain 21293372
esv2751910 CNV loss 17911159
esv3893262 CNV loss 25118596
esv3893263 CNV loss 25118596
nsv458837 CNV gain 19166990
nsv469544 CNV loss 16826518
nsv585167 CNV gain 21841781

Variation tolerance for DEFB129 Gene

Residual Variation Intolerance Score: 82.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.86; 79.41% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DEFB129 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DEFB129 Gene

Disorders for DEFB129 Gene

Relevant External Links for DEFB129

Genetic Association Database (GAD)
Atlas of Genetics and Cytogenetics in Oncology and Haematology:

No disorders were found for DEFB129 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for DEFB129 Gene

Publications for DEFB129 Gene

  1. 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 4 64
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 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 4 64
  4. Distribution of new human beta-defensin genes clustered on chromosome 20 in functionally different segments of epididymis. (PMID: 12620395) Rodriguez-Jimenez F.-J. … Motzkus D. (Genomics 2003) 3 4 64
  5. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark H.F. … Gray A.M. (Genome Res. 2003) 3 4 64

Products for DEFB129 Gene

Sources for DEFB129 Gene

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