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Aliases for DEFB135 Gene

Aliases for DEFB135 Gene

  • Defensin Beta 135 2 3 5
  • Defensin, Beta 135 2 3 4
  • Beta-Defensin 136 3
  • DEFB136 3

External Ids for DEFB135 Gene

Previous GeneCards Identifiers for DEFB135 Gene

  • GC08P011878
  • GC08P010770
  • GC08P011839

Summaries for DEFB135 Gene

Entrez Gene Summary for DEFB135 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 DEFB135 Gene

DEFB135 (Defensin Beta 135) is a Protein Coding gene. Among its related pathways are Defensins and Immune System.

UniProtKB/Swiss-Prot for DEFB135 Gene

  • Has antibacterial activity.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DEFB135 Gene

Genomics for DEFB135 Gene

Regulatory Elements for DEFB135 Gene

Enhancers for DEFB135 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around DEFB135 on UCSC Golden Path with GeneCards custom track

Genomic Location for DEFB135 Gene

Chromosome:
8
Start:
11,982,321 bp from pter
End:
11,984,590 bp from pter
Size:
2,270 bases
Orientation:
Plus strand

Genomic View for DEFB135 Gene

Genes around DEFB135 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DEFB135 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DEFB135 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DEFB135 Gene

Proteins for DEFB135 Gene

  • Protein details for DEFB135 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q30KP9-DB135_HUMAN
    Recommended name:
    Beta-defensin 135
    Protein Accession:
    Q30KP9
    Secondary Accessions:
    • Q4QY37

    Protein attributes for DEFB135 Gene

    Size:
    77 amino acids
    Molecular mass:
    8754 Da
    Quaternary structure:
    No Data Available

neXtProt entry for DEFB135 Gene

Proteomics data for DEFB135 Gene at MOPED

Post-translational modifications for DEFB135 Gene

No Post-translational modifications

Other Protein References for DEFB135 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DEFB135 Gene

Domains & Families for DEFB135 Gene

Gene Families for DEFB135 Gene

Protein Domains for DEFB135 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DEFB135 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q30KP9

UniProtKB/Swiss-Prot:

DB135_HUMAN :
  • Belongs to the beta-defensin family.
Family:
  • Belongs to the beta-defensin family.
genes like me logo Genes that share domains with DEFB135: view

Function for DEFB135 Gene

Molecular function for DEFB135 Gene

UniProtKB/Swiss-Prot Function:
Has antibacterial activity.

Phenotypes for DEFB135 Gene

GenomeRNAi human phenotypes for DEFB135:
genes like me logo Genes that share phenotypes with DEFB135: view

Animal Model 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 DEFB135 Gene

Localization for DEFB135 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DEFB135 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DEFB135 Gene COMPARTMENTS Subcellular localization image for DEFB135 gene
Compartment Confidence
extracellular 5

No data available for Gene Ontology (GO) - Cellular Components for DEFB135 Gene

Pathways & Interactions for DEFB135 Gene

SuperPathways for DEFB135 Gene

Superpath Contained pathways
1 Defensins
.82
2 Immune System
genes like me logo Genes that share pathways with DEFB135: view

Pathways by source for DEFB135 Gene

4 Reactome pathways for DEFB135 Gene

Interacting Proteins for DEFB135 Gene

Gene Ontology (GO) - Biological Process for DEFB135 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0045087 innate immune response IBA --
genes like me logo Genes that share ontologies with DEFB135: view

No data available for SIGNOR curated interactions for DEFB135 Gene

Drugs & Compounds for DEFB135 Gene

No Compound Related Data Available

Transcripts for DEFB135 Gene

mRNA/cDNA for DEFB135 Gene

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

Alternative Splicing Database (ASD) splice patterns (SP) for DEFB135 Gene

No ASD Table

Relevant External Links for DEFB135 Gene

GeneLoc Exon Structure for
DEFB135
ECgene alternative splicing isoforms for
DEFB135

Expression for DEFB135 Gene

mRNA expression in normal human tissues for DEFB135 Gene

SOURCE GeneReport for Unigene cluster for DEFB135 Gene Hs.558284

genes like me logo Genes that share expression patterns with DEFB135: view

Primer Products

In Situ Assay 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 , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for DEFB135 Gene

Orthologs for DEFB135 Gene

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

Orthologs for DEFB135 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DEFB135 35
  • 90.48 (n)
  • 85.71 (a)
-- 36
  • 98 (a)
OneToMany
DEFB135 36
  • 99 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Defb30 36
  • 48 (a)
OneToOne
Species with no ortholog for DEFB135:
  • 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)
  • 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 DEFB135 Gene

ENSEMBL:
Gene Tree for DEFB135 (if available)
TreeFam:
Gene Tree for DEFB135 (if available)

Paralogs for DEFB135 Gene

(4) SIMAP similar genes for DEFB135 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with DEFB135: view

No data available for Paralogs for DEFB135 Gene

Variants for DEFB135 Gene

Sequence variations from dbSNP and Humsavar for DEFB135 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs7832394 -- 11,980,970(+) TATAT(A/G/T)TTCTA upstream-variant-2KB
rs7833185 -- 11,980,846(+) tcaag(C/T)gatct upstream-variant-2KB
rs7839224 -- 11,983,507(+) TCTCT(A/G)CTGGA intron-variant
rs10086500 -- 11,981,423(+) AAAGT(A/G)CGTGC upstream-variant-2KB
rs10086836 -- 11,981,730(+) TTTTG(A/G)GGAGC upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for DEFB135 Gene

Variant ID Type Subtype PubMed ID
nsv890366 CNV Gain 21882294
nsv890369 CNV Loss 21882294
nsv516685 CNV Gain+Loss 19592680
nsv428195 CNV Gain 18775914
dgv2199e1 CNV Complex 17122850
dgv2200e1 CNV Complex 17122850
dgv7704n71 CNV Gain 21882294
esv2736614 CNV Deletion 23290073
essv15113 CNV CNV 17122850
dgv1269e199 CNV Deletion 23128226
esv3862 CNV Duplication 18987735
nsv465468 CNV Gain 19166990
nsv890372 CNV Gain 21882294

Variation tolerance for DEFB135 Gene

Residual Variation Intolerance Score: 61.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.07; 60.81% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DEFB135 Gene

HapMap Linkage Disequilibrium report
DEFB135

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DEFB135 Gene

Disorders for DEFB135 Gene

Relevant External Links for DEFB135

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DEFB135

No disorders were found for DEFB135 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for DEFB135 Gene

Publications for DEFB135 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 67
  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) 3

Products for DEFB135 Gene

Sources for DEFB135 Gene

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