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Aliases for DEFB130A Gene

Aliases for DEFB130A Gene

  • Defensin Beta 130A 2 3
  • Defensin Beta 130 2 3 5
  • Defensin, Beta 130 2 4
  • Beta-Defensin 30 3 4
  • DEFB130 3 5
  • DEFB-30 3 4
  • DEFB30 3 4
  • Beta-Defensin 130 3
  • Defensin, Beta 30 3
  • DEFB130 DEFB130L 4
  • DEFB130L 3

External Ids for DEFB130A Gene

Previous HGNC Symbols for DEFB130A Gene

  • DEFB130

Summaries for DEFB130A Gene

Entrez Gene Summary for DEFB130A 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 8p23. [provided by RefSeq, Nov 2014]

GeneCards Summary for DEFB130A Gene

DEFB130A (Defensin Beta 130A) is a Protein Coding gene. Among its related pathways are Defensins and Innate Immune System. An important paralog of this gene is DEFB130B.

UniProtKB/Swiss-Prot for DEFB130A 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 DEFB130A Gene

Genomics for DEFB130A Gene

Genomic Location for DEFB130A Gene

Chromosome:
8
Start:
12,310,962 bp from pter
End:
12,318,316 bp from pter
Size:
7,355 bases
Orientation:
Minus strand

Genomic View for DEFB130A Gene

Genes around DEFB130A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DEFB130A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DEFB130A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DEFB130A Gene

No data available for Regulatory Elements for DEFB130A Gene

Proteins for DEFB130A Gene

  • Protein details for DEFB130A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q30KQ2-DB130_HUMAN
    Recommended name:
    Beta-defensin 130
    Protein Accession:
    Q30KQ2

    Protein attributes for DEFB130A Gene

    Size:
    79 amino acids
    Molecular mass:
    8736 Da
    Quaternary structure:
    No Data Available

neXtProt entry for DEFB130A Gene

Post-translational modifications for DEFB130A Gene

No Post-translational modifications

Other Protein References for DEFB130A Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DEFB130A Gene

Domains & Families for DEFB130A Gene

Gene Families for DEFB130A Gene

Protein Domains for DEFB130A Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for DEFB130A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q30KQ2

UniProtKB/Swiss-Prot:

DB130_HUMAN :
  • Belongs to the beta-defensin family.
Family:
  • Belongs to the beta-defensin family.
genes like me logo Genes that share domains with DEFB130A: view

Function for DEFB130A Gene

Molecular function for DEFB130A Gene

UniProtKB/Swiss-Prot Function:
Has antibacterial activity.

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for DEFB130A Gene

Localization for DEFB130A Gene

Subcellular locations from UniProtKB/Swiss-Prot for DEFB130A 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 DEFB130A gene
Compartment Confidence
extracellular 3

Gene Ontology (GO) - Cellular Components for DEFB130A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
genes like me logo Genes that share ontologies with DEFB130A: view

Pathways & Interactions for DEFB130A Gene

genes like me logo Genes that share pathways with DEFB130A: view

Pathways by source for DEFB130A Gene

Interacting Proteins for DEFB130A Gene

Gene Ontology (GO) - Biological Process for DEFB130A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006952 defense response IEA --
GO:0042742 defense response to bacterium IEA --
genes like me logo Genes that share ontologies with DEFB130A: view

No data available for SIGNOR curated interactions for DEFB130A Gene

Transcripts for DEFB130A Gene

mRNA/cDNA for DEFB130A Gene

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

Alternative Splicing Database (ASD) splice patterns (SP) for DEFB130A Gene

No ASD Table

Relevant External Links for DEFB130A Gene

GeneLoc Exon Structure for
DEFB130A
ECgene alternative splicing isoforms for
DEFB130A

Expression for DEFB130A Gene

NURSA nuclear receptor signaling pathways regulating expression of DEFB130A Gene:

DEFB130A
No Expression Related Data Available

Primer Products

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 , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for DEFB130A Gene

Orthologs for DEFB130A Gene

This gene was present in the common ancestor of human and mouse.

Orthologs for DEFB130A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DEFB130 34 35
  • 99.58 (n)
rat
(Rattus norvegicus)
Mammalia Defb41 34
  • 74.26 (n)
mouse
(Mus musculus)
Mammalia Defb47 34 35
  • 72.57 (n)
Species where no ortholog for DEFB130A 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)
  • dog (Canis familiaris)
  • 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 DEFB130A Gene

ENSEMBL:
Gene Tree for DEFB130A (if available)
TreeFam:
Gene Tree for DEFB130A (if available)

Paralogs for DEFB130A Gene

Paralogs for DEFB130A Gene

genes like me logo Genes that share paralogs with DEFB130A: view

Variants for DEFB130A Gene

Sequence variations from dbSNP and Humsavar for DEFB130A Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs1000305354 -- 12,315,392(+) GCTTT(C/G)ATTGC intron-variant
rs1000655820 -- 12,314,985(+) ATTCT(G/T)AGAAA intron-variant
rs1001259237 -- 12,316,725(+) CAACA(A/C/G)CACTA intron-variant
rs1001711686 -- 12,316,907(+) TAAAA(C/T)AGAGC intron-variant
rs1002311261 -- 12,318,679(+) TACAC(-/TGTTTTTTTTTGTTT)TGTTT upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for DEFB130A Gene

Variant ID Type Subtype PubMed ID
dgv11967n54 CNV gain 21841781
dgv1270e199 CNV deletion 23128226
dgv154e203 CNV gain+loss 21179565
dgv244e55 CNV gain 17911159
dgv27n31 CNV gain 19718026
dgv3773n106 CNV deletion 24896259
dgv7015n100 CNV gain 25217958
dgv7016n100 CNV gain 25217958
dgv7017n100 CNV gain 25217958
dgv7018n100 CNV gain+loss 25217958
dgv7019n100 CNV gain 25217958
dgv7020n100 CNV loss 25217958
dgv7021n100 CNV loss 25217958
dgv7025n100 CNV gain 25217958
dgv7026n100 CNV gain+loss 25217958
dgv7029n100 CNV gain+loss 25217958
dgv7030n100 CNV gain 25217958
dgv7031n100 CNV loss 25217958
dgv7032n100 CNV gain 25217958
dgv7033n100 CNV gain 25217958
esv22986 CNV gain+loss 19812545
esv25198 CNV gain+loss 19812545
esv2660145 CNV deletion 23128226
esv2736614 CNV deletion 23290073
esv2759593 CNV gain+loss 17122850
nsv1032964 CNV gain 25217958
nsv1034132 CNV gain 25217958
nsv1075112 CNV deletion 25765185
nsv1075529 CNV deletion 25765185
nsv1144223 CNV deletion 24896259
nsv428195 CNV gain 18775914
nsv516685 CNV gain+loss 19592680
nsv610293 CNV gain 21841781
nsv821657 CNV loss 15273396
nsv8288 CNV gain+loss 18304495
nsv831234 CNV loss 17160897
nsv951104 CNV deletion 24416366
nsv967564 CNV duplication 23825009
nsv967566 CNV duplication 23825009

Relevant External Links for DEFB130A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DEFB130A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for DEFB130A Gene

Disorders for DEFB130A Gene

Relevant External Links for DEFB130A

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DEFB130A

No disorders were found for DEFB130A Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for DEFB130A Gene

Publications for DEFB130A Gene

  1. 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 4 64
  2. Involvement of I^-defensin 130 (DEFB130) in the macrophage microbicidal mechanisms for killing Plasmodium falciparum. (PMID: 28181499) Terkawi M.A. … Kato K. (Sci Rep 2017) 2 3 64
  3. 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
  4. DNA sequence and analysis of human chromosome 8. (PMID: 16421571) Nusbaum C. … Lander E.S. (Nature 2006) 4 64
  5. Identification, cloning and functional characterization of novel beta-defensins in the rat (Rattus norvegicus). (PMID: 16457734) Yenugu S. … Hall S.H. (Reprod. Biol. Endocrinol. 2006) 22 64

Products for DEFB130A Gene

Sources for DEFB130A Gene

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