Free for academic non-profit institutions. Other users need a Commercial license

Aliases for DEFB126 Gene

Aliases for DEFB126 Gene

  • Defensin, Beta 126 2 3 4
  • C20orf8 3 4
  • DEFB-26 3 4
  • DEFB26 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 Symbols for DEFB126 Gene

  • C20orf8

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. Diseases associated with DEFB126 include childhood leukemia. Among its related pathways are Defensins and Defensins.

UniProtKB/Swiss-Prot for DEFB126 Gene

  • Has antibacterial activity.

Gene Wiki entry for DEFB126 Gene

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

Genomics for DEFB126 Gene

Genomic Location for DEFB126 Gene

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

Genomic View for DEFB126 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for DEFB126 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DEFB126 Gene

Regulatory Elements 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:
    No Data Available

neXtProt entry for DEFB126 Gene

Proteomics data for DEFB126 Gene at MOPED

Post-translational modifications for DEFB126 Gene

No Post-translational modifications

Other Protein References for DEFB126 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for DEFB126 Gene

Domains for DEFB126 Gene

Gene Families for DEFB126 Gene

HGNC:
  • DEFB :Defensins, beta

Protein Domains for DEFB126 Gene

InterPro:
ProtoNet:

UniProtKB/Swiss-Prot:

DB126_HUMAN
Family:
  • Belongs to the beta-defensin family.:
    • Q9BYW3
genes like me logo Genes that share domains with DEFB126: view

Function for DEFB126 Gene

Molecular function for DEFB126 Gene

UniProtKB/Swiss-Prot Function: Has antibacterial activity.
genes like me logo Genes that share phenotypes with DEFB126: view

miRNA for DEFB126 Gene

miRTarBase miRNAs that target DEFB126

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

Localization for DEFB126 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DEFB126 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DEFB126 Gene COMPARTMENTS Subcellular localization image for DEFB126 gene
Compartment Confidence
extracellular 5
plasma membrane 1

Gene Ontology (GO) - Cellular Components for DEFB126 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0009986 cell surface IBA --
GO:0030112 glycocalyx IEA --
genes like me logo Genes that share ontologies with DEFB126: view

Pathways for DEFB126 Gene

SuperPathways for DEFB126 Gene

Superpath Contained pathways
1 Defensins
.80
genes like me logo Genes that share pathways with DEFB126: view

Pathways by source for DEFB126 Gene

2 Reactome pathways for DEFB126 Gene

Interacting Proteins for DEFB126 Gene

Gene Ontology (GO) - Biological Process for DEFB126 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0042742 defense response to bacterium IBA --
GO:0045087 innate immune response IBA --
genes like me logo Genes that share ontologies with DEFB126: view

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:

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 for DEFB126 Gene

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

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 36
  • 95.06 (n)
  • 91.67 (a)
DEFB126 37
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DEFB126 37
  • 29 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Defb22 16
Defb22 37
  • 18 (a)
OneToOne
Species with no ortholog for DEFB126:
  • 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

Selected 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 MAF
rs1300154 -- 140,888(+) TGCCA(A/G)AAAAA upstream-variant-2KB
rs1342137 -- 144,480(+) TTCTC(C/T)CCCTC intron-variant
rs6038402 -- 141,183(+) GCTAA(C/T)ATCTG upstream-variant-2KB
rs6038405 -- 141,335(+) CAAGC(A/G)GAAAA upstream-variant-2KB
rs6038524 -- 143,570(+) tgtga(A/G)tactg intron-variant

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

Variant ID Type Subtype PubMed ID
dgv4505n71 CNV Gain 21882294
dgv4506n71 CNV Gain 21882294
esv2751910 CNV Loss 17911159
nsv912554 CNV Gain 21882294
dgv65n68 CNV Loss 17160897
nsv469544 CNV Loss 16826518
dgv4507n71 CNV Gain 21882294
nsv520277 CNV Loss 19592680
nsv527749 CNV Loss 19592680
nsv510776 CNV Loss 20534489

Relevant External Links for DEFB126 Gene

HapMap Linkage Disequilibrium report
DEFB126
Human Gene Mutation Database (HGMD)
DEFB126

Disorders for DEFB126 Gene

(1) MalaCards Diseases for DEFB126 Gene

Search for DEFB126 Gene in MalaCards »

Relevant External Links for DEFB126

Genetic Association Database (GAD)
DEFB126
Human Genome Epidemiology (HuGE) Navigator
DEFB126
genes like me logo Genes that share disorders with DEFB126: view

No data available for UniProtKB/Swiss-Prot for DEFB126 Gene

Publications for DEFB126 Gene

  1. The novel epididymal secretory protein ESP13.2 in Macaca fascicularis. (PMID: 10491631) Perry A.C.F. … Hall L. (Biol. Reprod. 1999) 3 4 23
  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
  3. 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
  4. Risk of meningioma and common variation in genes related to innate immunity. (PMID: 20406964) Rajaraman P. … Inskip P.D. (Cancer Epidemiol. Biomarkers Prev. 2010) 3 49
  5. Polymorphisms in innate immunity genes and risk of childhood leukemia. (PMID: 20438785) Han S. … Kang D. (Hum. Immunol. 2010) 3 49

Products for DEFB126 Gene

Sources for DEFB126 Gene

Back to Top

Content