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Aliases for DEFB136 Gene

Aliases for DEFB136 Gene

  • Defensin Beta 136 2 3 5
  • Defensin, Beta 136 2 3 4
  • Beta-Defensin 137 3
  • DEFB137 3

External Ids for DEFB136 Gene

Previous GeneCards Identifiers for DEFB136 Gene

  • GC00U921670
  • GC08P011877
  • GC08M011869
  • GC08M011831
  • GC08M010762

Summaries for DEFB136 Gene

Entrez Gene Summary for DEFB136 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 DEFB136 Gene

DEFB136 (Defensin Beta 136) is a Protein Coding gene. Among its related pathways are Immune System and Defensins.

UniProtKB/Swiss-Prot for DEFB136 Gene

  • Has antibacterial activity.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DEFB136 Gene

Genomics for DEFB136 Gene

Regulatory Elements for DEFB136 Gene

Genomic Location for DEFB136 Gene

Chromosome:
8
Start:
11,973,937 bp from pter
End:
11,974,599 bp from pter
Size:
663 bases
Orientation:
Minus strand

Genomic View for DEFB136 Gene

Genes around DEFB136 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DEFB136 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DEFB136 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DEFB136 Gene

Proteins for DEFB136 Gene

  • Protein details for DEFB136 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q30KP8-DB136_HUMAN
    Recommended name:
    Beta-defensin 136
    Protein Accession:
    Q30KP8
    Secondary Accessions:
    • Q4QY36

    Protein attributes for DEFB136 Gene

    Size:
    78 amino acids
    Molecular mass:
    8755 Da
    Quaternary structure:
    No Data Available

neXtProt entry for DEFB136 Gene

Proteomics data for DEFB136 Gene at MOPED

Post-translational modifications for DEFB136 Gene

No Post-translational modifications

Other Protein References for DEFB136 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DEFB136 Gene

Domains & Families for DEFB136 Gene

Gene Families for DEFB136 Gene

Protein Domains for DEFB136 Gene

Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for DEFB136 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q30KP8

UniProtKB/Swiss-Prot:

DB136_HUMAN :
  • Belongs to the beta-defensin family.
Family:
  • Belongs to the beta-defensin family.
genes like me logo Genes that share domains with DEFB136: view

Function for DEFB136 Gene

Molecular function for DEFB136 Gene

UniProtKB/Swiss-Prot Function:
Has antibacterial activity.

Phenotypes for DEFB136 Gene

GenomeRNAi human phenotypes for DEFB136:
genes like me logo Genes that share phenotypes with DEFB136: 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 DEFB136 Gene

Localization for DEFB136 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DEFB136 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DEFB136 Gene COMPARTMENTS Subcellular localization image for DEFB136 gene
Compartment Confidence
extracellular 5

No data available for Gene Ontology (GO) - Cellular Components for DEFB136 Gene

Pathways & Interactions for DEFB136 Gene

SuperPathways for DEFB136 Gene

Superpath Contained pathways
1 Immune System
2 Defensins
.82
genes like me logo Genes that share pathways with DEFB136: view

Pathways by source for DEFB136 Gene

4 Reactome pathways for DEFB136 Gene

Interacting Proteins for DEFB136 Gene

Gene Ontology (GO) - Biological Process for DEFB136 Gene

None

No data available for SIGNOR curated interactions for DEFB136 Gene

Drugs & Compounds for DEFB136 Gene

No Compound Related Data Available

Transcripts for DEFB136 Gene

mRNA/cDNA for DEFB136 Gene

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

Alternative Splicing Database (ASD) splice patterns (SP) for DEFB136 Gene

No ASD Table

Relevant External Links for DEFB136 Gene

GeneLoc Exon Structure for
DEFB136
ECgene alternative splicing isoforms for
DEFB136

Expression for DEFB136 Gene

mRNA expression in normal human tissues for DEFB136 Gene

SOURCE GeneReport for Unigene cluster for DEFB136 Gene Hs.558285

genes like me logo Genes that share expression patterns with DEFB136: 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 DEFB136 Gene

Orthologs for DEFB136 Gene

This gene was present in the common ancestor of mammals.

Orthologs for DEFB136 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DEFB136 35
  • 98.72 (n)
  • 97.44 (a)
DEFB136 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CBD136 36
  • 63 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Defb42 36
  • 52 (a)
OneToOne
Species with no ortholog for DEFB136:
  • 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 DEFB136 Gene

ENSEMBL:
Gene Tree for DEFB136 (if available)
TreeFam:
Gene Tree for DEFB136 (if available)

Paralogs for DEFB136 Gene

No data available for Paralogs for DEFB136 Gene

Variants for DEFB136 Gene

Sequence variations from dbSNP and Humsavar for DEFB136 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs4458914 -- 11,976,010(-) tgagg(C/T)aagtg upstream-variant-2KB
rs4841661 -- 11,975,260(+) TTGGC(C/T)AGGAT upstream-variant-2KB
rs7461062 -- 11,974,439(+) CCCAT(C/T)TGATA intron-variant
rs7830603 -- 11,976,036(+) gggat(G/T)acagg upstream-variant-2KB
rs7826748 -- 11,975,920(+) accac(A/G)cctgg upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for DEFB136 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

Variation tolerance for DEFB136 Gene

Residual Variation Intolerance Score: 50.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.10; 2.21% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DEFB136 Gene

HapMap Linkage Disequilibrium report
DEFB136

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DEFB136 Gene

Disorders for DEFB136 Gene

Relevant External Links for DEFB136

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DEFB136

No disorders were found for DEFB136 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for DEFB136 Gene

Publications for DEFB136 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 DEFB136 Gene

Sources for DEFB136 Gene

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