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Aliases for DEFB131A Gene

Aliases for DEFB131A Gene

  • Defensin Beta 131A 2 3
  • Defensin Beta 131 2 3 5
  • DEFB131 3 4 5
  • Defensin, Beta 131 2 4
  • Beta-Defensin 31 3 4
  • DEFB-31 3 4
  • Beta-Defensin 131 3
  • Defensin, Beta 31 3
  • DEFB31 4

External Ids for DEFB131A Gene

Previous HGNC Symbols for DEFB131A Gene

  • DEFB131

Summaries for DEFB131A Gene

Entrez Gene Summary for DEFB131A 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 4p16. [provided by RefSeq, Nov 2014]

GeneCards Summary for DEFB131A Gene

DEFB131A (Defensin Beta 131A) is a Protein Coding gene. Among its related pathways are Defensins and Innate Immune System. An important paralog of this gene is DEFB131B.

UniProtKB/Swiss-Prot for DEFB131A Gene

  • Has antibacterial activity.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DEFB131A Gene

Genomics for DEFB131A Gene

Regulatory Elements for DEFB131A Gene

Enhancers for DEFB131A 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
GH04G009452 0.5 ENCODE 0.4 +8.1 8099 0.7 BCL6 THRB RXRB OR7E84P DEFB131A OR7E86P
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DEFB131A on UCSC Golden Path with GeneCards custom track

Genomic Location for DEFB131A Gene

Chromosome:
4
Start:
9,444,534 bp from pter
End:
9,450,514 bp from pter
Size:
5,981 bases
Orientation:
Plus strand

Genomic View for DEFB131A Gene

Genes around DEFB131A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DEFB131A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DEFB131A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DEFB131A Gene

Proteins for DEFB131A Gene

  • Protein details for DEFB131A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P59861-DB131_HUMAN
    Recommended name:
    Beta-defensin 131
    Protein Accession:
    P59861

    Protein attributes for DEFB131A Gene

    Size:
    70 amino acids
    Molecular mass:
    8199 Da
    Quaternary structure:
    No Data Available

neXtProt entry for DEFB131A Gene

Post-translational modifications for DEFB131A Gene

No Post-translational modifications

Other Protein References for DEFB131A Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DEFB131A Gene

Domains & Families for DEFB131A Gene

Gene Families for DEFB131A Gene

Protein Domains for DEFB131A Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DEFB131A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P59861

UniProtKB/Swiss-Prot:

DB131_HUMAN :
  • Belongs to the beta-defensin family.
Family:
  • Belongs to the beta-defensin family.
genes like me logo Genes that share domains with DEFB131A: view

Function for DEFB131A Gene

Molecular function for DEFB131A Gene

UniProtKB/Swiss-Prot Function:
Has antibacterial activity.

Phenotypes for DEFB131A Gene

GenomeRNAi human phenotypes for DEFB131A:
genes like me logo Genes that share phenotypes with DEFB131A: view

Animal Model 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 DEFB131A Gene

Localization for DEFB131A Gene

Subcellular locations from UniProtKB/Swiss-Prot for DEFB131A 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 DEFB131A gene
Compartment Confidence
extracellular 5

Gene Ontology (GO) - Cellular Components for DEFB131A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
genes like me logo Genes that share ontologies with DEFB131A: view

Pathways & Interactions for DEFB131A Gene

genes like me logo Genes that share pathways with DEFB131A: view

Pathways by source for DEFB131A Gene

Interacting Proteins for DEFB131A Gene

Gene Ontology (GO) - Biological Process for DEFB131A 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 DEFB131A: view

No data available for SIGNOR curated interactions for DEFB131A Gene

Drugs & Compounds for DEFB131A Gene

No Compound Related Data Available

Transcripts for DEFB131A Gene

mRNA/cDNA for DEFB131A Gene

(1) REFSEQ mRNAs :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for DEFB131A Gene

No ASD Table

Relevant External Links for DEFB131A Gene

GeneLoc Exon Structure for
DEFB131A
ECgene alternative splicing isoforms for
DEFB131A

Expression for DEFB131A Gene

NURSA nuclear receptor signaling pathways regulating expression of DEFB131A Gene:

DEFB131A

mRNA Expression by UniProt/SwissProt for DEFB131A Gene:

P59861-DB131_HUMAN
Tissue specificity: Highly expressed in testis. Is moderately expressed in the prostate and small intestine.

No data available for mRNA expression in normal human tissues , 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 DEFB131A Gene

Orthologs for DEFB131A Gene

This gene was present in the common ancestor of mammals.

Orthologs for DEFB131A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DEFB131 34 35
  • 98.57 (n)
-- 35
  • 97 (a)
OneToMany
dog
(Canis familiaris)
Mammalia DEFB131 35
  • 55 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Defb43 35
  • 52 (a)
OneToOne
Species where no ortholog for DEFB131A 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 DEFB131A Gene

ENSEMBL:
Gene Tree for DEFB131A (if available)
TreeFam:
Gene Tree for DEFB131A (if available)

Paralogs for DEFB131A Gene

Paralogs for DEFB131A Gene

Pseudogenes.org Pseudogenes for DEFB131A Gene

genes like me logo Genes that share paralogs with DEFB131A: view

Variants for DEFB131A Gene

Sequence variations from dbSNP and Humsavar for DEFB131A Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs1000559631 -- 9,444,826(+) ATCCC(A/T)GCACT intron-variant
rs1000736453 -- 9,448,920(+) AAATG(A/G)CATAA intron-variant
rs1000785214 -- 9,449,196(+) CAAAT(C/T)AGTGG intron-variant
rs10015493 -- 9,443,505(+) agttc(A/G)agacc upstream-variant-2KB
rs1001593422 -- 9,449,493(+) TCACA(A/C/T)GCAAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DEFB131A Gene

Variant ID Type Subtype PubMed ID
dgv49n64 CNV gain 17921354
dgv5097n100 CNV gain 25217958
dgv5098n100 CNV gain+loss 25217958
dgv5099n100 CNV gain 25217958
dgv5100n100 CNV gain 25217958
dgv5101n100 CNV gain+loss 25217958
dgv5102n100 CNV gain 25217958
dgv5103n100 CNV gain 25217958
dgv5104n100 CNV gain 25217958
dgv5105n100 CNV gain 25217958
dgv5106n100 CNV gain 25217958
dgv5107n100 CNV gain 25217958
dgv5108n100 CNV gain 25217958
dgv5109n100 CNV gain+loss 25217958
dgv5110n100 CNV gain 25217958
dgv5111n100 CNV loss 25217958
dgv5112n100 CNV gain 25217958
dgv5n29 CNV loss 16826518
dgv644n27 CNV gain 19166990
dgv645n27 CNV gain 19166990
dgv8958n54 CNV gain 21841781
dgv8959n54 CNV gain 21841781
dgv8960n54 CNV gain 21841781
dgv922e199 CNV deletion 23128226
dgv981e214 CNV gain 21293372
esv1163601 CNV insertion 17803354
esv22777 CNV gain+loss 19812545
esv2678198 CNV deletion 23128226
esv2759222 CNV gain+loss 17122850
esv2763860 CNV gain+loss 21179565
esv34196 OTHER inversion 12058347
esv3584797 CNV loss 24956385
esv3599572 CNV loss 21293372
esv3893870 CNV gain 25118596
esv3893871 CNV gain 25118596
esv3893872 CNV gain 25118596
nsv1001331 CNV loss 25217958
nsv1002765 CNV loss 25217958
nsv1005698 CNV gain 25217958
nsv1014242 CNV loss 25217958
nsv1014335 CNV gain 25217958
nsv10445 CNV gain 18304495
nsv4228 CNV deletion 18451855
nsv428437 CNV gain 18775914
nsv442891 CNV gain+loss 18776908
nsv470016 CNV gain 18288195
nsv471623 CNV gain+loss 15918152
nsv508273 CNV deletion 20534489
nsv525830 CNV loss 19592680
nsv593646 CNV gain 21841781
nsv593649 CNV loss 21841781
nsv593651 CNV gain+loss 21841781
nsv593661 CNV loss 21841781
nsv818212 CNV gain 17921354
nsv818213 CNV gain 17921354
nsv819708 CNV gain 19587683
nsv829856 CNV gain+loss 17160897
nsv980182 CNV duplication 23825009
nsv999615 CNV gain 25217958
nsv999982 CNV loss 25217958

Variation tolerance for DEFB131A Gene

Residual Variation Intolerance Score: 76.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.33; 7.30% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DEFB131A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DEFB131A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DEFB131A Gene

Disorders for DEFB131A Gene

Relevant External Links for DEFB131A

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DEFB131A

No disorders were found for DEFB131A Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for DEFB131A Gene

Publications for DEFB131A Gene

  1. 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) 2 3 4 64
  2. Expression of Beta-Defensin 131 Promotes an Innate Immune Response in Human Prostate Epithelial Cells. (PMID: 26649771) Kim J.H. … Myung S.C. (PLoS ONE 2015) 2 3 64
  3. Cross-species analysis of the mammalian beta-defensin gene family: presence of syntenic gene clusters and preferential expression in the male reproductive tract. (PMID: 16033865) Patil A.A. … Zhang G. (Physiol. Genomics 2005) 2 3 64
  4. 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 64
  5. Genome-scale RNAi screen for host factors required for HIV replication. (PMID: 18976975) Zhou H. … Espeseth A.S. (Cell Host Microbe 2008) 3 64

Products for DEFB131A Gene

Sources for DEFB131A Gene

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