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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 Immune System and Defensins.

UniProtKB/Swiss-Prot for DEFB124 Gene

  • Has antibacterial activity.

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

Genomics for DEFB124 Gene

Regulatory Elements for DEFB124 Gene

Enhancers for DEFB124 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
GH20F031513 1.4 FANTOM5 ENCODE 19.9 -39.2 -39226 4.3 HDGF CREB3L1 MLX WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 HM13 DEFB124 DEFB123 DEFB122 DEFB121 DEFB118 RNU1-94P REM1 PDRG1 ENSG00000274364
GH20F031518 1.3 FANTOM5 Ensembl ENCODE 20.8 -45.2 -45247 6.8 KLF1 CEBPB ZNF316 ZFHX2 POLR2A IKZF1 EMSY EGR2 DEFB124 HM13 REM1 ENSG00000274364
GH20F031672 2.3 VISTA FANTOM5 Ensembl ENCODE 11.1 -200.7 -200699 10.7 HDGF PKNOX1 ARNT CREB3L1 MLX WRNIP1 ZFP64 SIN3A ARID4B FEZF1 POFUT1 COX4I2 REM1 BCL2L1 LINC00028 DEFB124 ID1 HM13 TTLL9 HCK
GH20F031879 1.1 ENCODE 19.2 -403.1 -403121 1.4 PKNOX1 CREB3L1 ARID4B SIN3A YBX1 DMAP1 YY1 SLC30A9 ZNF143 FOS POFUT1 REM1 DEFB124 DUSP15 ID1 FOXS1 MYLK2 RNU1-94P
GH20F031601 2.1 VISTA FANTOM5 ENCODE 9.9 -130.7 -130695 11.5 CREB3L1 MLX ZFP64 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC MEF2D MCTS2P MYLK2 COX4I2 TSPY26P HM13 RNU6-384P HM13-AS1 KIF3B DEFB124 ID1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DEFB124 on UCSC Golden Path with GeneCards custom track

Promoters for DEFB124 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001836612 1656 200 ZNF24

Genomic Location for DEFB124 Gene

Chromosome:
20
Start:
31,465,506 bp from pter
End:
31,476,757 bp from pter
Size:
11,252 bases
Orientation:
Minus strand

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

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

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 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

Pathways & Interactions for DEFB124 Gene

SuperPathways for DEFB124 Gene

SuperPathway Contained pathways
1 Defensins
.83
2 Immune System
genes like me logo Genes that share pathways with DEFB124: view

Pathways by source for DEFB124 Gene

4 Reactome pathways for DEFB124 Gene

Interacting Proteins for DEFB124 Gene

Selected Interacting proteins: Q8NES8-DB124_HUMAN for DEFB124 Gene via IID

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 IEA,IBA --
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

Transcripts for DEFB124 Gene

mRNA/cDNA for DEFB124 Gene

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

Inhibitory RNA Products

Clone Products

Flow Cytometry 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 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
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 and mRNA Expression by UniProt/SwissProt 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 34 35
  • 99.53 (n)
cow
(Bos Taurus)
Mammalia DEFB124 35
  • 75 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CBD124 35
  • 74 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Defb25 35
  • 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 Sequence Context AA Info Type
rs1006459 -- 31,476,528(+) GGGCC(A/G)CCAGC upstream-variant-2KB, reference, missense
rs111347013 -- 31,470,391(+) CCCCC(C/T)ACCTC intron-variant
rs111398694 -- 31,467,987(+) GGCTC(A/C)AGTGA intron-variant
rs111402081 -- 31,472,923(+) ACACA(-/CA)CACAC intron-variant
rs111523738 -- 31,472,785(+) GAGGT(A/C)CAGGC intron-variant

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

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

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)

Relevant External Links 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

Relevant External Links for DEFB124

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 A.A. … Zhang G. (Physiol. Genomics 2005) 2 3 4 64
  2. 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
  3. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P. … Rogers J. (Nature 2001) 3 4 64
  4. Beta-Defensin 124 Is Required for Efficient Innate Immune Responses in Prostate Epithelial RWPE-1 Cells. (PMID: 24955228) Kim K.H. … Myung S.C. (Korean J Urol 2014) 3 64
  5. Identification, cloning and functional characterization of novel beta-defensins in the rat (Rattus norvegicus). (PMID: 16457734) Yenugu S. … Hall S.H. (Reprod. Biol. Endocrinol. 2006) 22 64

Products for DEFB124 Gene

Sources for DEFB124 Gene

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