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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 Defensins and Innate Immune System.

UniProtKB/Swiss-Prot for DEFB129 Gene

  • Has antibacterial activity.

Gene Wiki entry for DEFB129 Gene

No data available for CIViC summary , 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
GH20G000307 2 FANTOM5 Ensembl ENCODE dbSUPER 10.2 +82.8 82808 4.2 PKNOX1 FOXA2 ARNT ARID4B SIN3A FEZF1 DMAP1 YY1 SLC30A9 ZNF143 NRSN2 NRSN2-AS1 DEFB129 ZCCHC3 SOX12 SLC52A3
GH20G000266 1.5 FANTOM5 ENCODE 11.2 +39.7 39667 1.5 HDGF PKNOX1 MLX CREB3L1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 C20orf96 ZCCHC3 NRSN2-AS1 DEFB129 DEFB128 NRSN2 ENSG00000272874 GC20P000265
GH20G000323 1.4 ENCODE dbSUPER 10.1 +99.3 99250 7.0 CREB3L1 MLX AGO1 ZFP64 DMAP1 FEZF1 YY1 SLC30A9 ZNF143 ZNF263 ZCCHC3 C20orf96 TBC1D20 NRSN2 NRSN2-AS1 DEFB132 DEFB129 GC20P000328 SOX12
GH20G000330 1.4 Ensembl ENCODE dbSUPER 10.1 +103.6 103591 1.1 ELF3 ARID4B KLF17 THRB RAD21 RFX5 ZNF143 ZNF207 MIXL1 THAP11 ZCCHC3 C20orf96 RBCK1 TRIB3 DEFB132 DEFB129 GC20M000330 GC20P000328
GH20G000227 0.7 Ensembl ENCODE 0.7 +0.7 743 0.4 FUS ZNF175 DEFB129 DEFB132
- 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

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

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

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

CRISPR Products

Inhibitory RNA Products

Clone 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
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 --
genes like me logo Genes that share ontologies with DEFB129: view

Pathways & Interactions 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 IBA,IEA --
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for DEFB129 Gene

NURSA nuclear receptor signaling pathways regulating expression of DEFB129 Gene:

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

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 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 34 35
  • 100 (n)
cow
(Bos Taurus)
Mammalia BBD129 34
  • 79.05 (n)
DEFB129 35
  • 64 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DEFB129 34
  • 78.64 (n)
CBD129 35
  • 63 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Defb23 34 16 35
  • 67.09 (n)
rat
(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

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
rs1000357475 -- 226,723(+) CTGGG(C/T)GCGGT upstream-variant-2KB
rs1000831131 -- 226,961(+) TCACG(C/T)CACTG upstream-variant-2KB
rs1001762648 -- 225,259(+) CAGTA(A/C)TTTCC upstream-variant-2KB
rs1002253695 -- 227,247(+) TCAGG(A/T)GCATC upstream-variant-2KB
rs1002304388 -- 226,892(+) ACTCT(A/G)CTTGG upstream-variant-2KB

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
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 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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