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Aliases for DEFB125 Gene

Aliases for DEFB125 Gene

  • Defensin Beta 125 2 3 5
  • Defensin, Beta 125 2 4
  • Beta Defensin 25 2 3
  • DEFB-25 3 4
  • Beta-Defensin 125 3
  • Beta-Defensin 25 4
  • DEFB25 4

External Ids for DEFB125 Gene

Previous GeneCards Identifiers for DEFB125 Gene

  • GC20U990240

Summaries for DEFB125 Gene

Entrez Gene Summary for DEFB125 Gene

  • Defensins are cysteine-rich cationic polypeptides that are important in the host 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 20p13. [provided by RefSeq, Nov 2014]

GeneCards Summary for DEFB125 Gene

DEFB125 (Defensin Beta 125) is a Protein Coding gene. Among its related pathways are Defensins and Innate Immune System.

UniProtKB/Swiss-Prot for DEFB125 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 DEFB125 Gene

Genomics for DEFB125 Gene

Regulatory Elements for DEFB125 Gene

Enhancers for DEFB125 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
GH20G000657 1.2 FANTOM5 Ensembl ENCODE 5.3 +571.6 571633 1.9 ZNF362 TEAD4 ZMYM3 RBBP5 CHD7 ZNF623 RAD51 POU5F1 PRDM10 SPI1 FAM110A SRXN1 DEFB125 LOC105372491 GC20P000653
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DEFB125 on UCSC Golden Path with GeneCards custom track

Genomic Location for DEFB125 Gene

Chromosome:
20
Start:
87,250 bp from pter
End:
97,094 bp from pter
Size:
9,845 bases
Orientation:
Plus strand

Genomic View for DEFB125 Gene

Genes around DEFB125 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DEFB125 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DEFB125 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DEFB125 Gene

Proteins for DEFB125 Gene

  • Protein details for DEFB125 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N687-DB125_HUMAN
    Recommended name:
    Beta-defensin 125
    Protein Accession:
    Q8N687
    Secondary Accessions:
    • A1A502
    • Q7Z7B9

    Protein attributes for DEFB125 Gene

    Size:
    156 amino acids
    Molecular mass:
    17537 Da
    Quaternary structure:
    No Data Available

neXtProt entry for DEFB125 Gene

Post-translational modifications for DEFB125 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DEFB125 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DEFB125 Gene

Domains & Families for DEFB125 Gene

Gene Families for DEFB125 Gene

Protein Domains for DEFB125 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DEFB125 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8N687

UniProtKB/Swiss-Prot:

DB125_HUMAN :
  • Belongs to the beta-defensin family.
Family:
  • Belongs to the beta-defensin family.
genes like me logo Genes that share domains with DEFB125: view

Function for DEFB125 Gene

Molecular function for DEFB125 Gene

UniProtKB/Swiss-Prot Function:
Has antibacterial activity.
genes like me logo Genes that share phenotypes with DEFB125: view

Animal Model Products

CRISPR Products

miRNA for DEFB125 Gene

miRTarBase miRNAs that target DEFB125

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 DEFB125 Gene

Localization for DEFB125 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DEFB125 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 DEFB125 gene
Compartment Confidence
extracellular 5
lysosome 1

Gene Ontology (GO) - Cellular Components for DEFB125 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
genes like me logo Genes that share ontologies with DEFB125: view

Pathways & Interactions for DEFB125 Gene

genes like me logo Genes that share pathways with DEFB125: view

Pathways by source for DEFB125 Gene

Gene Ontology (GO) - Biological Process for DEFB125 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 DEFB125: view

No data available for SIGNOR curated interactions for DEFB125 Gene

Drugs & Compounds for DEFB125 Gene

No Compound Related Data Available

Transcripts for DEFB125 Gene

mRNA/cDNA for DEFB125 Gene

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

Unigene Clusters for DEFB125 Gene

Defensin, beta 125:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for DEFB125 Gene

No ASD Table

Relevant External Links for DEFB125 Gene

GeneLoc Exon Structure for
DEFB125
ECgene alternative splicing isoforms for
DEFB125

Expression for DEFB125 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DEFB125 Gene

mRNA differential expression in normal tissues according to GTEx for DEFB125 Gene

This gene is overexpressed in Testis (x38.6), Bladder (x7.5), and Cervix - Endocervix (x6.9).

Protein differential expression in normal tissues from HIPED for DEFB125 Gene

This gene is overexpressed in Platelet (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for DEFB125 Gene



Protein tissue co-expression partners for DEFB125 Gene

NURSA nuclear receptor signaling pathways regulating expression of DEFB125 Gene:

DEFB125

SOURCE GeneReport for Unigene cluster for DEFB125 Gene:

Hs.380220

Evidence on tissue expression from TISSUES for DEFB125 Gene

  • Lung(4.1)
  • Nervous system(2.1)
genes like me logo Genes that share expression patterns with DEFB125: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for DEFB125 Gene

Orthologs for DEFB125 Gene

This gene was present in the common ancestor of mammals.

Orthologs for DEFB125 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DEFB125 34 35
  • 98.08 (n)
dog
(Canis familiaris)
Mammalia DEFB125 34
  • 69.57 (n)
CBD125 35
  • 50 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Defb26 35
  • 27 (a)
OneToOne
Species where no ortholog for DEFB125 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)
  • 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 DEFB125 Gene

ENSEMBL:
Gene Tree for DEFB125 (if available)
TreeFam:
Gene Tree for DEFB125 (if available)

Paralogs for DEFB125 Gene

(2) SIMAP similar genes for DEFB125 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with DEFB125: view

No data available for Paralogs for DEFB125 Gene

Variants for DEFB125 Gene

Sequence variations from dbSNP and Humsavar for DEFB125 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs1000188713 -- 88,394(+) GAAAA(C/T)TGTTA intron-variant
rs1000353543 -- 96,500(+) ATTTC(A/G)CCAGG utr-variant-3-prime
rs1000392019 -- 94,985(+) ACAGA(A/G)CACAG intron-variant
rs1000470901 -- 90,298(+) GAATT(A/G)TTCCC intron-variant
rs1000506308 -- 90,095(+) TGTTT(C/T)AGAAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DEFB125 Gene

Variant ID Type Subtype PubMed ID
dgv4218n100 CNV gain 25217958
dgv4219n100 CNV gain 25217958
dgv4220n100 CNV gain 25217958
esv2751910 CNV loss 17911159
esv2763662 CNV gain+loss 21179565
nsv1063539 CNV gain 25217958
nsv1065832 CNV loss 25217958
nsv585162 CNV loss 21841781
nsv585163 CNV gain 21841781
nsv585164 CNV loss 21841781

Variation tolerance for DEFB125 Gene

Residual Variation Intolerance Score: 57.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.75; 15.92% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DEFB125 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DEFB125

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DEFB125 Gene

Disorders for DEFB125 Gene

Relevant External Links for DEFB125

Genetic Association Database (GAD)
DEFB125
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DEFB125

No disorders were found for DEFB125 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for DEFB125 Gene

Publications for DEFB125 Gene

  1. 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) 2 3 4 64
  2. 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
  3. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P. … Rogers J. (Nature 2001) 3 4 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 4 64
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3 64

Products for DEFB125 Gene

Sources for DEFB125 Gene

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