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 ... See more...

Aliases for DEFB136 Gene

Aliases for DEFB136 Gene

  • Defensin Beta 136 2 3 5
  • Defensin, Beta 136 2 4
  • Beta-Defensin 136 3 4
  • DEFB137 2 3
  • Beta-Defensin 137 3
  • DEFB136 5

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 Defensins and Innate Immune System.

UniProtKB/Swiss-Prot Summary for DEFB136 Gene

Additional gene information for DEFB136 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DEFB136 Gene

Genomics for DEFB136 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DEFB136 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DEFB136 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DEFB136

Top Transcription factor binding sites by QIAGEN in the DEFB136 gene promoter:
  • GR
  • GR-alpha
  • Ik-1
  • Ik-2
  • NF-AT
  • NF-AT1
  • NF-AT2
  • NF-AT3
  • SRF
  • SRF (504 AA)

Genomic Locations for DEFB136 Gene

Genomic Locations for DEFB136 Gene
chr8:11,973,937-11,974,599
(GRCh38/hg38)
Size:
663 bases
Orientation:
Minus strand
chr8:11,831,446-11,832,108
(GRCh37/hg19)
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

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

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

Protein Domains for DEFB136 Gene

InterPro:
Blocks:
  • Beta defensin
ProtoNet:

Suggested Antigen Peptide Sequences for DEFB136 Gene

GenScript: Design optimal peptide antigens:
  • Defensin, beta 136 (DB136_HUMAN)

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 From GWAS Catalog for DEFB136 Gene

Phenotypes for DEFB136 Gene

genes like me logo Genes that share phenotypes with DEFB136: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DEFB136

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
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 DEFB136 gene
Compartment Confidence
extracellular 4

Gene Ontology (GO) - Cellular Components for DEFB136 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
genes like me logo Genes that share ontologies with DEFB136: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for DEFB136 Gene

Pathways & Interactions for DEFB136 Gene

PathCards logo

SuperPathways for DEFB136 Gene

genes like me logo Genes that share pathways with DEFB136: view

Pathways by source for DEFB136 Gene

Gene Ontology (GO) - Biological Process for DEFB136 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 DEFB136: view

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 :
2 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DEFB136

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

No ASD Table

Relevant External Links for DEFB136 Gene

GeneLoc Exon Structure for
DEFB136

Expression for DEFB136 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DEFB136 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DEFB136

SOURCE GeneReport for Unigene cluster for DEFB136 Gene:

Hs.558285
genes like me logo Genes that share expression patterns with DEFB136: 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 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 30 31
  • 98.72 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CBD136 31
  • 63 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Defb42 31
  • 52 (a)
OneToOne
Species where no ortholog for DEFB136 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for DEFB136: view image

Paralogs for DEFB136 Gene

No data available for Paralogs for DEFB136 Gene

Variants for DEFB136 Gene

Additional dbSNP identifiers (rs#s) for DEFB136 Gene

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

Variant ID Type Subtype PubMed ID
dgv1269e199 CNV deletion 23128226
esv2736614 CNV deletion 23290073
esv2759593 CNV gain+loss 17122850
esv3572522 CNV loss 25503493
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 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)

Additional Variant Information for DEFB136 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DEFB136

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DEFB136 Gene

Disorders for DEFB136 Gene

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 AA … Zhang G (Physiological genomics 2005) 2 3 4
  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

Products for DEFB136 Gene

Sources for DEFB136 Gene