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Aliases for DEFB129 Gene

Aliases for DEFB129 Gene

  • Defensin Beta 129 2 3 5
  • Defensin, Beta 129 2 3 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 29 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

Genomic Location for DEFB129 Gene

Chromosome:
20
Start:
227,258 bp from pter
End:
229,886 bp from pter
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

Proteomics data for DEFB129 Gene at MOPED

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

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DEFB129 Gene

GenScript: Design optimal peptide antigens:

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

Animal Model Products

miRNA Products

Inhibitory RNA Products

In Situ Assay 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

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DEFB129 Gene COMPARTMENTS Subcellular localization image for DEFB129 gene
Compartment Confidence
extracellular 5
cytosol 1

No data available for Gene Ontology (GO) - Cellular Components for DEFB129 Gene

Pathways & Interactions for DEFB129 Gene

SuperPathways for DEFB129 Gene

Superpath Contained pathways
1 Immune System
2 Defensins
.82
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

Gene Ontology (GO) - Biological Process for DEFB129 Gene

GO ID Qualified GO term Evidence PubMed IDs
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

Drugs & Compounds for DEFB129 Gene

No Compound Related Data Available

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:

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

No ASD Table

Relevant External Links for DEFB129 Gene

GeneLoc Exon Structure for
DEFB129
ECgene alternative splicing isoforms for
DEFB129

Expression for DEFB129 Gene

mRNA expression in normal human tissues for DEFB129 Gene

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

Primer Products

In Situ Assay 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
chimpanzee
(Pan troglodytes)
Mammalia DEFB129 35
  • 100 (n)
  • 100 (a)
DEFB129 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DEFB129 36
  • 64 (a)
OneToOne
BBD129 35
  • 79.05 (n)
  • 64 (a)
dog
(Canis familiaris)
Mammalia DEFB129 35
  • 78.64 (n)
  • 63.54 (a)
CBD129 36
  • 63 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Defb23 36
  • 46 (a)
OneToOne
Defb23 16
Defb23 35
  • 67.09 (n)
  • 47.77 (a)
rat
(Rattus norvegicus)
Mammalia Defb23 35
  • 66.23 (n)
  • 46.75 (a)
Species with no ortholog for DEFB129:
  • 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

ENSEMBL:
Gene Tree for DEFB129 (if available)
TreeFam:
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
rs6105339 -- 227,909(+) CAAAG(G/T)TTCCT intron-variant
rs6074833 -- 229,210(+) TCTCC(C/T)ACTAG intron-variant
rs6074846 -- 229,898(+) GTAAT(A/G)TTATC downstream-variant-500B
rs6074848 -- 229,993(+) CAGGA(A/G)GGTGA downstream-variant-500B

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

Variant ID Type Subtype PubMed ID
esv2751910 CNV Loss 17911159
nsv912554 CNV Gain 21882294
dgv65n68 CNV Loss 17160897
nsv469544 CNV Loss 16826518
nsv458837 CNV Gain 19166990

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

HapMap Linkage Disequilibrium report
DEFB129

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)
DEFB129
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 B.C. … McCray P.B. Jr. (Proc. Natl. Acad. Sci. U.S.A. 2002) 2 3 4 67
  2. A genome-wide association study identifies potential susceptibility loci for Hirschsprung disease. (PMID: 25310821) Kim J.H. … Shin H.D. (PLoS ONE 2014) 3
  3. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PMID: 17207965) Lamesch P. … Vidal M. (Genomics 2007) 3
  4. 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
  5. 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

Products for DEFB129 Gene

Sources for DEFB129 Gene

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