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Aliases for DEFB130 Gene

Aliases for DEFB130 Gene

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

External Ids for DEFB130 Gene

Summaries for DEFB130 Gene

Entrez Gene Summary for DEFB130 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 DEFB130 Gene

DEFB130 (Defensin, Beta 130) is a Protein Coding gene. Among its related pathways are Defensins and Defensins. An important paralog of this gene is LOC100133267.

UniProtKB/Swiss-Prot for DEFB130 Gene

  • Has antibacterial activity.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DEFB130 Gene

Genomics for DEFB130 Gene

Genomic Location for DEFB130 Gene

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

Genomic View for DEFB130 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for DEFB130 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DEFB130 Gene

Regulatory Elements for DEFB130 Gene

Proteins for DEFB130 Gene

  • Protein details for DEFB130 Gene (UniProtKB/Swiss-Prot)

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

    Protein attributes for DEFB130 Gene

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

neXtProt entry for DEFB130 Gene

Proteomics data for DEFB130 Gene at MOPED

Post-translational modifications for DEFB130 Gene

No Post-translational modifications

Other Protein References for DEFB130 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for DEFB130 Gene

Domains for DEFB130 Gene

Gene Families for DEFB130 Gene

HGNC:
  • DEFB :Defensins, beta

Protein Domains for DEFB130 Gene

Blocks:
InterPro:
ProtoNet:

UniProtKB/Swiss-Prot:

DB130_HUMAN
Family:
  • Belongs to the beta-defensin family.:
    • Q30KQ2
genes like me logo Genes that share domains with DEFB130: view

Function for DEFB130 Gene

Molecular function for DEFB130 Gene

UniProtKB/Swiss-Prot Function: Has antibacterial activity.

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for DEFB130 Gene

Localization for DEFB130 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DEFB130 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DEFB130 Gene COMPARTMENTS Subcellular localization image for DEFB130 gene
Compartment Confidence
extracellular 3

Gene Ontology (GO) - Cellular Components for DEFB130 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
genes like me logo Genes that share ontologies with DEFB130: view

Pathways for DEFB130 Gene

SuperPathways for DEFB130 Gene

Superpath Contained pathways
1 Defensins
.80
genes like me logo Genes that share pathways with DEFB130: view

Pathways by source for DEFB130 Gene

2 Reactome pathways for DEFB130 Gene

Interacting Proteins for DEFB130 Gene

Gene Ontology (GO) - Biological Process for DEFB130 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006952 defense response --
GO:0042742 defense response to bacterium IEA --
genes like me logo Genes that share ontologies with DEFB130: view

Transcripts for DEFB130 Gene

mRNA/cDNA for DEFB130 Gene

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

Alternative Splicing Database (ASD) splice patterns (SP) for DEFB130 Gene

No ASD Table

Relevant External Links for DEFB130 Gene

GeneLoc Exon Structure for
DEFB130
ECgene alternative splicing isoforms for
DEFB130

Expression for DEFB130 Gene

mRNA expression in normal human tissues for DEFB130 Gene

SOURCE GeneReport for Unigene cluster for DEFB130 Gene Hs.581979

genes like me logo Genes that share expressions with DEFB130: view

Orthologs for DEFB130 Gene

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

Orthologs for DEFB130 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DEFB130 36
  • 99.58 (n)
  • 100 (a)
DEFB130 37
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Defb47 36
  • 72.57 (n)
  • 62.03 (a)
Defb47 16
Defb47 37
  • 62 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Defb41 36
  • 74.26 (n)
  • 65.82 (a)
Species with no ortholog for DEFB130:
  • 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 DEFB130 Gene

ENSEMBL:
Gene Tree for DEFB130 (if available)
TreeFam:
Gene Tree for DEFB130 (if available)

Paralogs for DEFB130 Gene

Paralogs for DEFB130 Gene

Selected SIMAP similar genes for DEFB130 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with DEFB130: view

Variants for DEFB130 Gene

Sequence variations from dbSNP and Humsavar for DEFB130 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type MAF
rs28579678 -- 12,318,947(+) CTCCC(A/G)GGTTC upstream-variant-2KB
rs34316356 -- 12,312,410(+) GAGTT(C/G)GGCAA intron-variant
rs75185005 -- 12,318,856(+) TTTTT(C/T)TTTTT upstream-variant-2KB
rs76094734 -- 12,311,859(+) TGGTT(G/T)TTGAG intron-variant
rs111340316 -- 12,318,920(+) CGCGA(C/T)CTCGG upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for DEFB130 Gene

Variant ID Type Subtype PubMed ID
nsv516685 CNV Gain+Loss 19592680
nsv428195 CNV Gain 18775914
dgv2199e1 CNV Complex 17122850
dgv2200e1 CNV Complex 17122850
esv2736614 CNV Deletion 23290073
essv15113 CNV CNV 17122850
nsv890372 CNV Gain 21882294
dgv27n31 CNV Duplication 19718026
dgv1270e199 CNV Deletion 23128226
nsv890373 CNV Loss 21882294
dgv2201e1 CNV Complex 17122850
esv2660145 CNV Deletion 23128226
esv22986 CNV Gain+Loss 19812545
dgv244e55 CNV Gain 17911159
nsv890374 CNV Gain 21882294
nsv8288 CNV Gain+Loss 18304495
dgv2203e1 CNV Complex 17122850
dgv2204e1 CNV Complex 17122850
nsv821657 CNV Loss 15273396
esv25198 CNV Gain+Loss 19812545
nsv831234 CNV Loss 17160897
nsv890376 CNV Loss 21882294
nsv890378 CNV Gain+Loss 21882294
nsv890380 CNV Gain 21882294

Relevant External Links for DEFB130 Gene

HapMap Linkage Disequilibrium report
DEFB130

Disorders for DEFB130 Gene

No disorders were found for DEFB130 Gene.

No data available for UniProtKB/Swiss-Prot for DEFB130 Gene

Publications for DEFB130 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
  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
  3. 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) 23
  4. DNA sequence and analysis of human chromosome 8. (PMID: 16421571) Nusbaum C. … Lander E.S. (Nature 2006) 4

Products for DEFB130 Gene

Sources for DEFB130 Gene

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