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Aliases for DEFB132 Gene

Aliases for DEFB132 Gene

  • Defensin Beta 132 2 3 5
  • Defensin, Beta 132 2 4
  • Beta-Defensin 32 3 4
  • Defensin HEL-75 3 4
  • DEFB-32 3 4
  • DEFB32 3 4
  • BD-32 3 4
  • Beta-Defensin 132 3
  • Defensin, Beta 32 3
  • RP5-1103G7.6 3
  • KFLL827 3
  • HEL-75 3
  • UNQ827 3

External Ids for DEFB132 Gene

Previous GeneCards Identifiers for DEFB132 Gene

  • GC20P000189

Summaries for DEFB132 Gene

Entrez Gene Summary for DEFB132 Gene

  • Defensins are cysteine-rich cationic polypeptides that are important in the immunologic response to invading microorganisms. The protein encoded by this gene is secreted and is a member of the beta defensin protein family. This protein binds spermatozoa and has antimicrobial activity against E. coli. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 20p13. [provided by RefSeq, Nov 2014]

GeneCards Summary for DEFB132 Gene

DEFB132 (Defensin Beta 132) is a Protein Coding gene. Among its related pathways are Defensins and Innate Immune System.

UniProtKB/Swiss-Prot for DEFB132 Gene

  • Has antibacterial activity.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DEFB132 Gene

Genomics for DEFB132 Gene

Regulatory Elements for DEFB132 Gene

Enhancers for DEFB132 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
GH20G000323 1.4 ENCODE dbSUPER 10.6 +68.8 68772 7.0 CREB3L1 MLX AGO1 ZFP64 DMAP1 FEZF1 YY1 SLC30A9 ZNF143 ZNF263 ZCCHC3 C20orf96 TBC1D20 NRSN2 NRSN2-AS1 DEFB132 DEFB129 GC20P000328 SOX12
GH20G000330 1.4 Ensembl ENCODE dbSUPER 10.6 +73.1 73113 1.1 ELF3 ARID4B KLF17 THRB RAD21 RFX5 ZNF143 ZNF207 MIXL1 THAP11 ZCCHC3 C20orf96 RBCK1 TRIB3 DEFB132 DEFB129 GC20M000330 GC20P000328
GH20G000237 0.9 Ensembl ENCODE 0.4 -20.0 -19966 1.3 HDAC1 SMARCE1 MTA2 MAX JUNB ZFHX2 EGR1 MTA1 IKZF2 EGR2 DEFB128 NRSN2-AS1 C20orf96 ZCCHC3 NRSN2 DEFB129 DEFB132
GH20G000227 0.7 Ensembl ENCODE 0.3 -29.7 -29736 0.4 FUS ZNF175 DEFB129 DEFB132
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DEFB132 on UCSC Golden Path with GeneCards custom track

Genomic Location for DEFB132 Gene

Chromosome:
20
Start:
257,736 bp from pter
End:
261,096 bp from pter
Size:
3,361 bases
Orientation:
Plus strand

Genomic View for DEFB132 Gene

Genes around DEFB132 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DEFB132 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DEFB132 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DEFB132 Gene

Proteins for DEFB132 Gene

  • Protein details for DEFB132 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7Z7B7-DB132_HUMAN
    Recommended name:
    Beta-defensin 132
    Protein Accession:
    Q7Z7B7
    Secondary Accessions:
    • B2RP72
    • Q4QY40

    Protein attributes for DEFB132 Gene

    Size:
    95 amino acids
    Molecular mass:
    10610 Da
    Quaternary structure:
    No Data Available

neXtProt entry for DEFB132 Gene

Post-translational modifications for DEFB132 Gene

No Post-translational modifications

Other Protein References for DEFB132 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DEFB132 Gene

Domains & Families for DEFB132 Gene

Gene Families for DEFB132 Gene

Protein Domains for DEFB132 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DEFB132 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q7Z7B7

UniProtKB/Swiss-Prot:

DB132_HUMAN :
  • Belongs to the beta-defensin family.
Family:
  • Belongs to the beta-defensin family.
genes like me logo Genes that share domains with DEFB132: view

Function for DEFB132 Gene

Molecular function for DEFB132 Gene

UniProtKB/Swiss-Prot Function:
Has antibacterial activity.
genes like me logo Genes that share phenotypes with DEFB132: view

Animal Model Products

miRNA for DEFB132 Gene

miRTarBase miRNAs that target DEFB132

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for DEFB132 Gene

Localization for DEFB132 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DEFB132 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 DEFB132 gene
Compartment Confidence
extracellular 5

Gene Ontology (GO) - Cellular Components for DEFB132 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
genes like me logo Genes that share ontologies with DEFB132: view

Pathways & Interactions for DEFB132 Gene

genes like me logo Genes that share pathways with DEFB132: view

Pathways by source for DEFB132 Gene

Gene Ontology (GO) - Biological Process for DEFB132 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006952 defense response IEA --
GO:0042742 defense response to bacterium IBA,IEA --
GO:0045087 innate immune response IBA --
genes like me logo Genes that share ontologies with DEFB132: view

No data available for SIGNOR curated interactions for DEFB132 Gene

Drugs & Compounds for DEFB132 Gene

No Compound Related Data Available

Transcripts for DEFB132 Gene

mRNA/cDNA for DEFB132 Gene

(1) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(9) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for DEFB132 Gene

Defensin, beta 132:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for DEFB132 Gene

No ASD Table

Relevant External Links for DEFB132 Gene

GeneLoc Exon Structure for
DEFB132
ECgene alternative splicing isoforms for
DEFB132

Expression for DEFB132 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DEFB132 Gene

mRNA differential expression in normal tissues according to GTEx for DEFB132 Gene

This gene is overexpressed in Adipose - Visceral (Omentum) (x17.7), Adipose - Subcutaneous (x16.3), Breast - Mammary Tissue (x9.2), and Prostate (x5.1).

NURSA nuclear receptor signaling pathways regulating expression of DEFB132 Gene:

DEFB132

SOURCE GeneReport for Unigene cluster for DEFB132 Gene:

Hs.516819
genes like me logo Genes that share expression patterns with DEFB132: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , 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 DEFB132 Gene

Orthologs for DEFB132 Gene

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

Orthologs for DEFB132 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DEFB132 34 35
  • 98.25 (n)
Species where no ortholog for DEFB132 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)
  • mouse (Mus musculus)
  • 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 DEFB132 Gene

ENSEMBL:
Gene Tree for DEFB132 (if available)
TreeFam:
Gene Tree for DEFB132 (if available)

Paralogs for DEFB132 Gene

(4) SIMAP similar genes for DEFB132 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with DEFB132: view

No data available for Paralogs for DEFB132 Gene

Variants for DEFB132 Gene

Sequence variations from dbSNP and Humsavar for DEFB132 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs1000199102 -- 257,845(+) AACTG(A/G)ATAAA intron-variant
rs1000484166 -- 259,243(+) CACTG(G/T)CAATC reference, missense
rs1001088783 -- 259,485(+) TTTGT(A/G)TCTAT utr-variant-3-prime
rs1001410385 -- 260,383(+) TATAC(C/T)AATGC utr-variant-3-prime
rs1001653795 -- 260,003(+) AGGGA(A/G)AGAAA utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for DEFB132 Gene

Variant ID Type Subtype PubMed ID
dgv4219n100 CNV gain 25217958
dgv65n68 CNV loss 17160897
dgv770e214 CNV gain 21293372
esv3584398 CNV loss 25503493
esv3893263 CNV loss 25118596
nsv3248 CNV insertion 18451855
nsv469544 CNV loss 16826518

Variation tolerance for DEFB132 Gene

Residual Variation Intolerance Score: 93.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.80; 16.83% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DEFB132 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DEFB132

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DEFB132 Gene

Disorders for DEFB132 Gene

Relevant External Links for DEFB132

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DEFB132

No disorders were found for DEFB132 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for DEFB132 Gene

Publications for DEFB132 Gene

  1. Directional and balancing selection in human beta-defensins. (PMID: 18416833) Hollox E.J. … Armour J.A. (BMC Evol. Biol. 2008) 2 3 64
  2. Transcriptome analysis of a cDNA library from adult human epididymis. (PMID: 18390568) Li J.Y. … Zhang Y.L. (DNA Res. 2008) 3 4 64
  3. Distribution of new human beta-defensin genes clustered on chromosome 20 in functionally different segments of epididymis. (PMID: 12620395) Rodriguez-Jimenez F.-J. … Motzkus D. (Genomics 2003) 3 4 64
  4. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark H.F. … Gray A.M. (Genome Res. 2003) 3 4 64
  5. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P. … Rogers J. (Nature 2001) 3 4 64

Products for DEFB132 Gene

Sources for DEFB132 Gene

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