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... See more...

Aliases for DEFB125 Gene

Aliases for DEFB125 Gene

  • Defensin Beta 125 2 3 5
  • DEFB-25 2 3 4
  • Defensin, Beta 125 2 4
  • Beta-Defensin 125 3 4
  • Beta Defensin 25 2 3
  • Beta-Defensin 25 4
  • DEFB125 5
  • DEFB25 4

External Ids for DEFB125 Gene

Previous GeneCards Identifiers for DEFB125 Gene

  • GC20U990240
  • GC20P000016

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. Diseases associated with DEFB125 include Dermatitis, Atopic, 2. Among its related pathways are Defensins and Innate Immune System. An important paralog of this gene is DEFB118.

UniProtKB/Swiss-Prot Summary for DEFB125 Gene

Additional gene information for DEFB125 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DEFB125 Gene

Genomics for DEFB125 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DEFB125 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20J000087 Promoter 0.3 EPDnew 600.7 +0.4 403 0.1 DEFB125 piR-31534-385 DEFB126
GH20J000657 Enhancer 0.7 FANTOM5 ENCODE 5.3 +571.6 571632 1.9 TEAD4 PRDM10 USF1 SPI1 RAD51 SP1 USF2 POU5F1 LOC105372491 KR021991 FAM110A SRXN1 DEFB125 NONHSAG031087.2 LOC107985423 ENSG00000270299
GH20J000060 Enhancer 0.4 ENCODE 0.3 -27.2 -27176 0.1 MGA MNT ZNF592 L3MBTL2 piR-48209-385 DEFB125
GH20J000142 Promoter 0.3 EPDnew 0.2 +55.3 55321 0.1 DEFB126 HSALNG0128005 DEFB125
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DEFB125 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DEFB125

Top Transcription factor binding sites by QIAGEN in the DEFB125 gene promoter:
  • En-1
  • FOXO4
  • NF-kappaB
  • NF-kappaB1
  • NF-kappaB2
  • Nkx6-1
  • Sox5

Genomic Locations for DEFB125 Gene

Genomic Locations for DEFB125 Gene
chr20:87,250-97,094
(GRCh38/hg38)
Size:
9,845 bases
Orientation:
Plus strand
chr20:67,891-77,735
(GRCh37/hg19)
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

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

Protein Domains for DEFB125 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DEFB125 Gene

GenScript: Design optimal peptide antigens:
  • Defensin, beta 125 (DB125_HUMAN)

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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DEFB125

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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 4
lysosome 0

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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for DEFB125 Gene

Pathways & Interactions for DEFB125 Gene

PathCards logo

SuperPathways for DEFB125 Gene

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

Pathways by source for DEFB125 Gene

Interacting Proteins 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 --
GO:0045087 innate immune response IEA --
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 :
6 NCBI additional mRNA sequence :
2 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 DEFB125

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

No ASD Table

Relevant External Links for DEFB125 Gene

GeneLoc Exon Structure for
DEFB125

Expression for DEFB125 Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Testis (Reproductive System)

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 and MOPED for DEFB125 Gene



Protein tissue co-expression partners for DEFB125 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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 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 30 31
  • 98.08 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia DEFB125 30
  • 69.57 (n)
CBD125 31
  • 50 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Defb26 31
  • 27 (a)
OneToOne
Species where no ortholog for DEFB125 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 DEFB125 Gene

ENSEMBL:
Gene Tree for DEFB125 (if available)
TreeFam:
Gene Tree for DEFB125 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DEFB125: view image

Paralogs for DEFB125 Gene

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

  • DB125_HUMAN
genes like me logo Genes that share paralogs with DEFB125: view

Variants for DEFB125 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DEFB125 Gene

SNP ID Clinical significance and condition Chr 20 pos Variation AA Info Type
rs41276376 - p.His62Tyr

Additional dbSNP identifiers (rs#s) for DEFB125 Gene

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)

Additional Variant Information 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

MalaCards: The human disease database

(1) MalaCards diseases for DEFB125 Gene - From: DISEASES

Disorder Aliases PubMed IDs
dermatitis, atopic, 2
  • dermatitis, atopic
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for DEFB125

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

No data available for 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 BC … McCray PB (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3 4
  2. Distribution of new human beta-defensin genes clustered on chromosome 20 in functionally different segments of epididymis. (PMID: 12620395) Rodríguez-Jiménez FJ … Motzkus D (Genomics 2003) 3 4
  3. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P … Rogers J (Nature 2001) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 4
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 3

Products for DEFB125 Gene

Sources for DEFB125 Gene