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Aliases for DEFB124 Gene

Aliases for DEFB124 Gene

  • Defensin Beta 124 2 3 5
  • Defensin, Beta 124 2 4
  • Defensin, Beta 24 2 3
  • Beta-Defensin 24 3 4
  • DEFB-24 3 4
  • Beta-Defensin 124 3
  • DEFB24 4

External Ids for DEFB124 Gene

Previous GeneCards Identifiers for DEFB124 Gene

  • GC20U990239
  • GC20M029801
  • GC20M030751
  • GC20M030798
  • GC20M029516
  • GC20M030053
  • GC20M026842

Summaries for DEFB124 Gene

Entrez Gene Summary for DEFB124 Gene

  • Defensins are cysteine-rich cationic polypeptides that are important in the host immunologic response to invading microorganisms. This antimicrobial protein 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 20q11.1. The encoded protein may serve to enhance innate immunity in the prostate. [provided by RefSeq, Nov 2014]

GeneCards Summary for DEFB124 Gene

DEFB124 (Defensin Beta 124) is a Protein Coding gene. Among its related pathways are Defensins and Innate Immune System.

UniProtKB/Swiss-Prot for DEFB124 Gene

  • Has antibacterial activity.

Additional gene information for DEFB124 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DEFB124 Gene

Genomics for DEFB124 Gene

GeneHancer (GH) Regulatory Elements for DEFB124 Gene

Promoters and enhancers for DEFB124 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
GH20I031474 Promoter/Enhancer 1.2 EPDnew Ensembl ENCODE 550.8 +1.3 1301 1.4 PKNOX1 CREB1 ZNF24 FOS PRDM4 EZH2 REM1 DEFB124 DEFB123
GH20I031472 Promoter 0.8 EPDnew 550.8 +3.8 3783 0.1 SMARCA5 CEBPB ZMYM3 KDM1A MNT DEFB124 REM1 GC20M031466
GH20I031513 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 19.9 -39.2 -39226 4.3 HDGF SMAD1 FOXA2 MLX ARNT ARID4B SIN3A YBX1 DMAP1 ZNF2 HM13 DEFB124 ASXL1 REM1 ENSG00000274364
GH20I031520 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 20.8 -46.3 -46346 4.6 HDGF KLF1 MNT BATF ZFHX2 ATF4 ZNF316 ZNF184 POLR2A IKZF1 DEFB124 HM13 REM1 ENSG00000274364
GH20I031558 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 9.9 -84.7 -84726 6.6 HDGF ATF1 ZFP64 ARID4B SIN3A ZNF48 ETS1 ZNF766 ARID2 ZNF143 HM13-IT1 HM13 ID1 BCL2L1 COX4I2 DEFB124 MYLK2 HCK MCTS2P
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around DEFB124 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DEFB124 gene promoter:

Genomic Locations for DEFB124 Gene

Genomic Locations for DEFB124 Gene
chr20:31,465,506-31,476,757
(GRCh38/hg38)
Size:
11,252 bases
Orientation:
Minus strand
chr20:30,053,309-30,064,560
(GRCh37/hg19)

Genomic View for DEFB124 Gene

Genes around DEFB124 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DEFB124 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DEFB124 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DEFB124 Gene

Proteins for DEFB124 Gene

  • Protein details for DEFB124 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NES8-DB124_HUMAN
    Recommended name:
    Beta-defensin 124
    Protein Accession:
    Q8NES8
    Secondary Accessions:
    • Q30E74

    Protein attributes for DEFB124 Gene

    Size:
    71 amino acids
    Molecular mass:
    8058 Da
    Quaternary structure:
    No Data Available

neXtProt entry for DEFB124 Gene

Post-translational modifications for DEFB124 Gene

No Post-translational modifications

Other Protein References for DEFB124 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DEFB124 Gene

Domains & Families for DEFB124 Gene

Gene Families for DEFB124 Gene

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

Protein Domains for DEFB124 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DEFB124 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8NES8

UniProtKB/Swiss-Prot:

DB124_HUMAN :
  • Belongs to the beta-defensin family.
Family:
  • Belongs to the beta-defensin family.
genes like me logo Genes that share domains with DEFB124: view

Function for DEFB124 Gene

Molecular function for DEFB124 Gene

UniProtKB/Swiss-Prot Function:
Has antibacterial activity.

Phenotypes for DEFB124 Gene

genes like me logo Genes that share phenotypes with DEFB124: view

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for DEFB124 Gene

Localization for DEFB124 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DEFB124 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 DEFB124 gene
Compartment Confidence
extracellular 5

Gene Ontology (GO) - Cellular Components for DEFB124 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0009986 cell surface IBA --
genes like me logo Genes that share ontologies with DEFB124: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for DEFB124 Gene

Pathways & Interactions for DEFB124 Gene

genes like me logo Genes that share pathways with DEFB124: view

Pathways by source for DEFB124 Gene

Interacting Proteins for DEFB124 Gene

Gene Ontology (GO) - Biological Process for DEFB124 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 DEFB124: view

No data available for SIGNOR curated interactions for DEFB124 Gene

Drugs & Compounds for DEFB124 Gene

No Compound Related Data Available

Transcripts for DEFB124 Gene

mRNA/cDNA for DEFB124 Gene

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

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for DEFB124 Gene

No ASD Table

Relevant External Links for DEFB124 Gene

GeneLoc Exon Structure for
DEFB124
ECgene alternative splicing isoforms for
DEFB124

Expression for DEFB124 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DEFB124 Gene

mRNA differential expression in normal tissues according to GTEx for DEFB124 Gene

This gene is overexpressed in Testis (x6.1) and Esophagus - Gastroesophageal Junction (x5.0).

NURSA nuclear receptor signaling pathways regulating expression of DEFB124 Gene:

DEFB124

SOURCE GeneReport for Unigene cluster for DEFB124 Gene:

Hs.381373

Evidence on tissue expression from TISSUES for DEFB124 Gene

  • Heart(2.3)
genes like me logo Genes that share expression patterns with DEFB124: view

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 and Phenotype-based relationships between genes and organs from Gene ORGANizer for DEFB124 Gene

Orthologs for DEFB124 Gene

This gene was present in the common ancestor of mammals.

Orthologs for DEFB124 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DEFB124 33 34
  • 99.53 (n)
cow
(Bos Taurus)
Mammalia DEFB124 34
  • 75 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CBD124 34
  • 74 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Defb25 34
  • 65 (a)
OneToOne
Species where no ortholog for DEFB124 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)
  • 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 DEFB124 Gene

ENSEMBL:
Gene Tree for DEFB124 (if available)
TreeFam:
Gene Tree for DEFB124 (if available)

Paralogs for DEFB124 Gene

(6) SIMAP similar genes for DEFB124 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with DEFB124: view

No data available for Paralogs for DEFB124 Gene

Variants for DEFB124 Gene

Sequence variations from dbSNP and Humsavar for DEFB124 Gene

SNP ID Clin Chr 20 pos Variation AA Info Type
rs1000200096 -- 31,469,042(-) A/C intron_variant
rs1000330657 -- 31,469,315(-) C/A intron_variant
rs1000433540 -- 31,474,165(-) T/C genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000668277 -- 31,473,247(-) G/A/T genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1001186369 -- 31,475,486(-) G/T upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for DEFB124 Gene

Variant ID Type Subtype PubMed ID
dgv4300n100 CNV gain 25217958
esv2763228 CNV gain 21179565
nsv1066091 CNV gain 25217958
nsv458961 CNV gain 19166990
nsv470546 CNV gain 18288195
nsv585911 CNV gain 21841781

Variation tolerance for DEFB124 Gene

Residual Variation Intolerance Score: 72.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.73; 46.70% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DEFB124 Gene

Human Gene Mutation Database (HGMD)
DEFB124
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DEFB124

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DEFB124 Gene

Disorders for DEFB124 Gene

Additional Disease Information for DEFB124

No disorders were found for DEFB124 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for DEFB124 Gene

Publications for DEFB124 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 58
  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) 2 3 4 58
  3. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P … Rogers J (Nature 2001) 3 4 58
  4. Beta-Defensin 124 Is Required for Efficient Innate Immune Responses in Prostate Epithelial RWPE-1 Cells. (PMID: 24955228) Kim KH … Myung SC (Korean journal of urology 2014) 3 58
  5. Identification, cloning and functional characterization of novel beta-defensins in the rat (Rattus norvegicus). (PMID: 16457734) Yenugu S … Hall SH (Reproductive biology and endocrinology : RB&E 2006) 22 58

Products for DEFB124 Gene

Sources for DEFB124 Gene

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