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Aliases for DEFB126 Gene

Aliases for DEFB126 Gene

  • Defensin Beta 126 2 3 5
  • Defensin, Beta 126 2 4
  • C20orf8 3 4
  • DEFB-26 3 4
  • DEFB26 3 4
  • HBD26 3 4
  • Epididymal Secretory Protein ESP13.2 3
  • Chromosome 20 Open Reading Frame 8 2
  • Epididymal Secretory Protein 13.2 4
  • Beta-Defensin 126 3
  • Beta-Defensin 26 4
  • BA530N10.1 3
  • ESP13.2 4
  • HBD-26 3

External Ids for DEFB126 Gene

Previous HGNC Symbols for DEFB126 Gene

  • C20orf8

Previous GeneCards Identifiers for DEFB126 Gene

  • GC20P000111
  • GC20P000118
  • GC20P000071

Summaries for DEFB126 Gene

Entrez Gene Summary for DEFB126 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. The encoded protein is highly similar to an epididymal-specific secretory protein (ESP13.2) from cynomolgus monkey. Mutation of this gene is associated with impaired sperm function. [provided by RefSeq, Nov 2014]

GeneCards Summary for DEFB126 Gene

DEFB126 (Defensin Beta 126) is a Protein Coding gene. Among its related pathways are Defensins and Innate Immune System.

UniProtKB/Swiss-Prot for DEFB126 Gene

  • Highly glycosylated atypical beta-defensin involved in several aspects of sperm function. Facilitates sperm transport in the female reproductive tract and contributes to sperm protection against immunodetection; both functions are probably implicating the negative surface charge provided by its O-linked oligosaccharides in the sperm glycocalyx. Involved in binding of sperm to oviductal epithelial cells to form a sperm reservoir until ovulation. Release from the sperm surface during capacitation and ovaluation by an elevation of oviductal fluid pH is unmasking other surface components and allows sperm to penetrate the cumulus matrix and bind to the zona pellucida of the oocyte (By similarity). In vitro has antimicrobial activity and may inhibit LPS-mediated inflammation (PubMed:19373462, PubMed:23229569).

Gene Wiki entry for DEFB126 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DEFB126 Gene

Genomics for DEFB126 Gene

Regulatory Elements for DEFB126 Gene


Genomic Location for DEFB126 Gene

Chromosome:
20
Start:
142,369 bp from pter
End:
145,751 bp from pter
Size:
3,383 bases
Orientation:
Plus strand

Genomic View for DEFB126 Gene

Genes around DEFB126 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DEFB126 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DEFB126 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DEFB126 Gene

Proteins for DEFB126 Gene

  • Protein details for DEFB126 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BYW3-DB126_HUMAN
    Recommended name:
    Beta-defensin 126
    Protein Accession:
    Q9BYW3
    Secondary Accessions:
    • Q562G3
    • Q9H1M5

    Protein attributes for DEFB126 Gene

    Size:
    111 amino acids
    Molecular mass:
    12174 Da
    Quaternary structure:
    • Homodimer or homooligomer; disulfide-linked.

neXtProt entry for DEFB126 Gene

Post-translational modifications for DEFB126 Gene

Other Protein References for DEFB126 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DEFB126 Gene

Domains & Families for DEFB126 Gene

Gene Families for DEFB126 Gene

Protein Domains for DEFB126 Gene

Suggested Antigen Peptide Sequences for DEFB126 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9BYW3

UniProtKB/Swiss-Prot:

DB126_HUMAN :
  • Belongs to the beta-defensin family.
Family:
  • Belongs to the beta-defensin family.
genes like me logo Genes that share domains with DEFB126: view

Function for DEFB126 Gene

Molecular function for DEFB126 Gene

UniProtKB/Swiss-Prot Function:
Highly glycosylated atypical beta-defensin involved in several aspects of sperm function. Facilitates sperm transport in the female reproductive tract and contributes to sperm protection against immunodetection; both functions are probably implicating the negative surface charge provided by its O-linked oligosaccharides in the sperm glycocalyx. Involved in binding of sperm to oviductal epithelial cells to form a sperm reservoir until ovulation. Release from the sperm surface during capacitation and ovaluation by an elevation of oviductal fluid pH is unmasking other surface components and allows sperm to penetrate the cumulus matrix and bind to the zona pellucida of the oocyte (By similarity). In vitro has antimicrobial activity and may inhibit LPS-mediated inflammation (PubMed:19373462, PubMed:23229569).
genes like me logo Genes that share phenotypes with DEFB126: view

Animal Model Products

CRISPR Products

miRNA for DEFB126 Gene

miRTarBase miRNAs that target DEFB126

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for DEFB126 Gene

Localization for DEFB126 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DEFB126 Gene

Secreted. Note=Secreted by epididymal cells and is absorbed to the surface of sperm during transit through the epididymis (By similarity). Mainly located on the sperm acrosome. {ECO:0000250 UniProtKB:Q9BEE3, ECO:0000269 PubMed:26832966}.

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 DEFB126 gene
Compartment Confidence
extracellular 5

Gene Ontology (GO) - Cellular Components for DEFB126 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
genes like me logo Genes that share ontologies with DEFB126: view

Pathways & Interactions for DEFB126 Gene

genes like me logo Genes that share pathways with DEFB126: view

Pathways by source for DEFB126 Gene

Interacting Proteins for DEFB126 Gene

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000371835%0d%0a9606.ENSP00000329890%0d%0a9606.ENSP00000297439%0d%0a9606.ENSP00000365486%0d%0a9606.ENSP00000297435%0d%0a9606.ENSP00000371813%0d%0a
Selected Interacting proteins: ENSP00000371835 Q9BYW3-DB126_HUMAN for DEFB126 Gene via STRING IID

Gene Ontology (GO) - Biological Process for DEFB126 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006952 defense response IEA --
GO:0007338 single fertilization IEA --
GO:0042742 defense response to bacterium IEA,IBA --
GO:0045087 innate immune response IBA --
GO:0050829 defense response to Gram-negative bacterium IDA 19373462
genes like me logo Genes that share ontologies with DEFB126: view

No data available for SIGNOR curated interactions for DEFB126 Gene

Drugs & Compounds for DEFB126 Gene

No Compound Related Data Available

Transcripts for DEFB126 Gene

mRNA/cDNA for DEFB126 Gene

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

Unigene Clusters for DEFB126 Gene

Defensin, beta 126:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for DEFB126 Gene

No ASD Table

Relevant External Links for DEFB126 Gene

GeneLoc Exon Structure for
DEFB126
ECgene alternative splicing isoforms for
DEFB126

Expression for DEFB126 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DEFB126 Gene

NURSA nuclear receptor signaling pathways regulating expression of DEFB126 Gene:

DEFB126

SOURCE GeneReport for Unigene cluster for DEFB126 Gene:

Hs.124211

mRNA Expression by UniProt/SwissProt for DEFB126 Gene:

Q9BYW3-DB126_HUMAN
Tissue specificity: High-level and epididymis-specific expression. Expression is down-regulated in infertile men.
genes like me logo Genes that share expression patterns with DEFB126: 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 , Protein tissue co-expression partners , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for DEFB126 Gene

Orthologs for DEFB126 Gene

This gene was present in the common ancestor of mammals.

Orthologs for DEFB126 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DEFB126 34 35
  • 95.06 (n)
dog
(Canis familiaris)
Mammalia DEFB126 35
  • 29 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Defb22 35
  • 18 (a)
OneToOne
Species where no ortholog for DEFB126 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)
  • cow (Bos Taurus)
  • 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)
  • rat (Rattus norvegicus)
  • 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 DEFB126 Gene

ENSEMBL:
Gene Tree for DEFB126 (if available)
TreeFam:
Gene Tree for DEFB126 (if available)

Paralogs for DEFB126 Gene

(2) SIMAP similar genes for DEFB126 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with DEFB126: view

No data available for Paralogs for DEFB126 Gene

Variants for DEFB126 Gene

Sequence variations from dbSNP and Humsavar for DEFB126 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs1000298173 -- 145,189(+) TTGTA(A/T)ACAGA intron-variant
rs1002247699 -- 140,832(+) TTGGT(A/G)ATTTC upstream-variant-2KB
rs1002505884 -- 143,205(+) TCTGT(A/G)TGGGA intron-variant
rs1002988452 -- 142,881(+) GTGAT(A/C)GGAGC intron-variant
rs1003357974 -- 144,370(+) AAAAA(C/T)GTTTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DEFB126 Gene

Variant ID Type Subtype PubMed ID
dgv4219n100 CNV gain 25217958
dgv4220n100 CNV gain 25217958
dgv65n68 CNV loss 17160897
dgv770e214 CNV gain 21293372
esv2751910 CNV loss 17911159
esv2763662 CNV gain+loss 21179565
nsv1059637 CNV loss 25217958
nsv1063539 CNV gain 25217958
nsv469544 CNV loss 16826518
nsv510776 CNV deletion 20534489
nsv520277 CNV loss 19592680
nsv527749 CNV loss 19592680
nsv585164 CNV loss 21841781
nsv585166 CNV loss 21841781

Variation tolerance for DEFB126 Gene

Residual Variation Intolerance Score: 82.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.59; 12.63% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DEFB126 Gene

Human Gene Mutation Database (HGMD)
DEFB126
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DEFB126

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DEFB126 Gene

Disorders for DEFB126 Gene

UniProtKB/Swiss-Prot

DB126_HUMAN
  • Note=May be involved in infertility. Homozygosity for frameshift truncating mutations are associated with reduced sperm O-linked glycan content, impaired sperm mobility and a reduced live birth rate (PubMed:21775668, PubMed:25721098). However, for one common mutation the change in sperm sialic acid levels has been challenged (PubMed:26832966). {ECO:0000269 PubMed:21775668, ECO:0000269 PubMed:25721098, ECO:0000305 PubMed:26832966}.

Relevant External Links for DEFB126

Genetic Association Database (GAD)
DEFB126
Human Genome Epidemiology (HuGE) Navigator
DEFB126
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DEFB126

No disorders were found for DEFB126 Gene.

No data available for MalaCards and Genatlas for DEFB126 Gene

Publications for DEFB126 Gene

  1. Soluble fusion expression and characterization of bioactive human beta-defensin 26 and 27. (PMID: 19373462) Huang L. … Jiang R. (Appl. Microbiol. Biotechnol. 2009) 3 4 22 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 4 64
  3. The novel epididymal secretory protein ESP13.2 in Macaca fascicularis. (PMID: 10491631) Perry A.C.F. … Hall L. (Biol. Reprod. 1999) 3 4 22 64
  4. Another functional frame-shift polymorphism of DEFB126 (rs11467497) associated with male infertility. (PMID: 25721098) Duan S. … Shi H. (J. Cell. Mol. Med. 2015) 3 4 64
  5. Human beta-defensin DEFB126 is capable of inhibiting LPS-mediated inflammation. (PMID: 23229569) Liu H. … Lin D. (Appl. Microbiol. Biotechnol. 2013) 3 4 64

Products for DEFB126 Gene

Sources for DEFB126 Gene

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