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... See more...

Aliases for DEFB129 Gene

Aliases for DEFB129 Gene

  • Defensin Beta 129 2 3 5
  • DEFB-29 2 3 4
  • Defensin, Beta 129 2 4
  • Beta-Defensin 129 3 4
  • Beta-Defensin 29 3 4
  • BA530N10.3 2 3
  • C20orf87 3 4
  • DEFB29 3 4
  • Epididymis Secretory Sperm Binding Protein 3
  • Chromosome 20 Open Reading Frame 87 2
  • DEFB129 5
  • 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 Defensins and Innate Immune System. An important paralog of this gene is DEFB127.

UniProtKB/Swiss-Prot Summary for DEFB129 Gene

Gene Wiki entry for DEFB129 Gene

Additional gene information for DEFB129 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DEFB129 Gene

Genomics for DEFB129 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DEFB129 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DEFB129 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DEFB129

Top Transcription factor binding sites by QIAGEN in the DEFB129 gene promoter:
  • FOXJ2
  • FOXJ2 (long isoform)
  • NF-AT
  • NF-AT1
  • NF-AT2
  • NF-AT3
  • NF-AT4
  • Nkx6-1
  • SRF (504 AA)
  • TBP

Genomic Locations for DEFB129 Gene

Genomic Locations for DEFB129 Gene
chr20:227,258-229,886
(GRCh38/hg38)
Size:
2,629 bases
Orientation:
Plus strand
chr20:207,899-210,527
(GRCh37/hg19)
Size:
2,629 bases
Orientation:
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:
    Q9H1M3-DB129_HUMAN
    Recommended name:
    Beta-defensin 129
    Protein Accession:
    Q9H1M3
    Secondary Accessions:
    • Q8NES7

    Protein attributes for DEFB129 Gene

    Size:
    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

HGNC:
Human Protein Atlas (HPA):
  • Predicted secreted proteins

Protein Domains for DEFB129 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DEFB129 Gene

GenScript: Design optimal peptide antigens:
  • Defensin, beta 129 (DB129_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9H1M3

UniProtKB/Swiss-Prot:

DB129_HUMAN :
  • Belongs to the beta-defensin family.
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.

Phenotypes From GWAS Catalog for DEFB129 Gene

genes like me logo Genes that share phenotypes with DEFB129: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DEFB129

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

Secreted.

Subcellular locations from

COMPARTMENTS
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 4
plasma membrane 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
cytosol 1

Gene Ontology (GO) - Cellular Components for DEFB129 Gene

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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for DEFB129 Gene

Pathways & Interactions for DEFB129 Gene

PathCards logo

SuperPathways for DEFB129 Gene

genes like me logo Genes that share pathways with DEFB129: view

Pathways by source for DEFB129 Gene

Interacting Proteins for DEFB129 Gene

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 --
GO:0045087 innate immune response IEA --
genes like me logo Genes that share ontologies with DEFB129: view

No data available for SIGNOR curated interactions for DEFB129 Gene

Drugs & Compounds for DEFB129 Gene

No Compound Related Data Available

Transcripts for DEFB129 Gene

mRNA/cDNA for DEFB129 Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DEFB129

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

No ASD Table

Relevant External Links for DEFB129 Gene

GeneLoc Exon Structure for
DEFB129

Expression for DEFB129 Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Testis (Reproductive System)

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DEFB129

SOURCE GeneReport for Unigene cluster for DEFB129 Gene:

Hs.112087

mRNA Expression by UniProt/SwissProt for DEFB129 Gene:

Q9H1M3-DB129_HUMAN
Tissue specificity: Expressed specifically in testis.
genes like me logo Genes that share expression patterns with DEFB129: view

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
Chimpanzee
(Pan troglodytes)
Mammalia DEFB129 30 31
  • 100 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia BBD129 30
  • 79.05 (n)
DEFB129 31
  • 64 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia DEFB129 30
  • 78.64 (n)
CBD129 31
  • 63 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Defb23 30 17 31
  • 67.09 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Defb23 30
  • 66.23 (n)
Species where no ortholog for DEFB129 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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

ENSEMBL:
Gene Tree for DEFB129 (if available)
TreeFam:
Gene Tree for DEFB129 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DEFB129: view image

Paralogs for DEFB129 Gene

genes like me logo Genes that share paralogs with DEFB129: view

Variants for DEFB129 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DEFB129 Gene

SNP ID Clinical significance and condition Chr 20 pos Variation AA Info Type
rs1053783 - p.Thr149Ser

Additional dbSNP identifiers (rs#s) for DEFB129 Gene

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)

Additional Variant Information for DEFB129 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DEFB129

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

Disorders for DEFB129 Gene

Additional Disease Information for DEFB129

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 BC … McCray PB (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3 4
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  3. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 3 4
  4. Distribution of new human beta-defensin genes clustered on chromosome 20 in functionally different segments of epididymis. (PMID: 12620395) Rodríguez-Jiménez FJ … Motzkus D (Genomics 2003) 3 4
  5. ORFeome-based search of airway epithelial cell-specific novel human [beta]-defensin genes. (PMID: 12600824) Kao CY … Wu R (American journal of respiratory cell and molecular biology 2003) 3 4

Products for DEFB129 Gene

  • Biorbyt antibodies for DEFB129
  • Signalway ELISA kits for DEFB129
  • Signalway Proteins for DEFB129

Sources for DEFB129 Gene