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Aliases for DEFB135 Gene

Aliases for DEFB135 Gene

  • Defensin Beta 135 2 3 5
  • Defensin, Beta 135 2 4
  • Beta-Defensin 135 3
  • 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. Diseases associated with DEFB135 include Atrioventricular Septal Defect. Among its related pathways are Defensins and Innate Immune System.

UniProtKB/Swiss-Prot for DEFB135 Gene

  • Has antibacterial activity.

Additional gene information for DEFB135 Gene

No data available for CIViC summary , 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 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
GH08H011856 1.7 Ensembl ENCODE dbSUPER 14.7 -119.2 -119185 12 HDGF PKNOX1 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 CTSB DEFB135 ZNF705D LINC00208 ZNF705CP ENSG00000249316 LINC00529 OR7E10P FAM167A-AS1 FDFT1
GH08H011464 1.6 FANTOM5 ENCODE dbSUPER 14.6 -516.0 -516015 3 HDGF PKNOX1 ATF1 ZNF493 ARID4B SIN3A FEZF1 ZNF2 ZBTB7B BRCA1 FAM167A PRSS52P LINC00208 ENSG00000249316 LINC00529 DEFB135 RNA5SP252 ZNF705D ZNF705CP PINX1
GH08H011895 1.9 FANTOM5 Ensembl ENCODE dbSUPER 11.5 -84.8 -84792 3 HDGF PKNOX1 FOXA2 SIN3A ARID4B YY1 ZNF766 ZNF143 ATF7 RUNX3 RPS3AP35 LOC101929290 CTSB LOC105379241 DEFB136 DEFB135 FAM66A ENSG00000255144 OR7E158P
GH08H011874 2 FANTOM5 Ensembl ENCODE dbSUPER 10.9 -105.0 -104963 5 PKNOX1 FOXA2 MLX ARNT ARID4B YY1 ZNF766 FOS SP5 ZNF592 FDFT1 CTSB LOC105379243 DEFB136 DEFB135 NEIL2 PIR55200
GH08H011890 1.8 FANTOM5 Ensembl ENCODE dbSUPER 11.4 -90.7 -90737 1 ELF3 FOXA2 ZSCAN4 ZNF133 INSM2 KLF17 FEZF1 DMAP1 ZNF2 RARA CTSB RPS3AP34 RPS3AP35 LOC101929290 DEFB136 DEFB135 PIR55200 ENSG00000255144
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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

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

HGNC:
Human Protein Atlas (HPA):
  • Predicted secreted proteins

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 From GWAS Catalog for DEFB135 Gene

Phenotypes for DEFB135 Gene

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

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for DEFB135
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
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 DEFB135 gene
Compartment Confidence
extracellular 5

Gene Ontology (GO) - Cellular Components for DEFB135 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0009986 cell surface IBA --
genes like me logo Genes that share ontologies with DEFB135: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for DEFB135 Gene

Pathways & Interactions for DEFB135 Gene

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

Pathways by source 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:0006952 defense response IEA --
GO:0042742 defense response to bacterium IEA,IBA --
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 :

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for DEFB135
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for DEFB135 Gene

NURSA nuclear receptor signaling pathways regulating expression of DEFB135 Gene:

DEFB135

SOURCE GeneReport for Unigene cluster for DEFB135 Gene:

Hs.558284
genes like me logo Genes that share expression patterns with DEFB135: 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 , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 -- 34
  • 98 (a)
OneToMany
DEFB135 33 34
  • 90.48 (n)
mouse
(Mus musculus)
Mammalia Defb30 34
  • 48 (a)
OneToOne
Species where no ortholog for DEFB135 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)
  • 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
rs1000659324 -- 11,982,467(+) AAGGC(A/T)GGACT intron-variant
rs1001011821 -- 11,982,693(+) GACTT(C/T)CAAAG intron-variant
rs1001315518 -- 11,982,935(+) AAGCC(A/T)GCAAC intron-variant
rs1002066852 -- 11,983,443(+) GAGGA(C/T)CATGT intron-variant
rs1002307156 -- 11,984,095(+) GCAGG(C/G)TCCTG intron-variant

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

Variant ID Type Subtype PubMed ID
dgv1269e199 CNV deletion 23128226
esv2736614 CNV deletion 23290073
esv2759593 CNV gain+loss 17122850
esv3616263 CNV loss 21293372
esv3862 OTHER sequence alteration 18987735
nsv1016332 CNV gain 25217958
nsv1018042 CNV gain 25217958
nsv1026344 CNV loss 25217958
nsv1034132 CNV gain 25217958
nsv428195 CNV gain 18775914
nsv465468 CNV gain 19166990
nsv516685 CNV gain+loss 19592680
nsv610293 CNV gain 21841781
nsv610294 CNV gain 21841781

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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DEFB135

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

Disorders for DEFB135 Gene

MalaCards: The human disease database

(1) MalaCards diseases for DEFB135 Gene - From: DISEASES

Disorder Aliases PubMed IDs
atrioventricular septal defect
  • atrioventricular canal defect
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for DEFB135

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DEFB135
genes like me logo Genes that share disorders with DEFB135: view

No data available for 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 AA … Zhang G (Physiological genomics 2005) 2 3 4 60
  2. Discovery of five conserved beta -defensin gene clusters using a computational search strategy. (PMID: 11854508) Schutte BC … McCray PB (Proceedings of the National Academy of Sciences of the United States of America 2002) 3 60

Products for DEFB135 Gene

Sources for DEFB135 Gene

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