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Aliases for DEFB124 Gene

Aliases for DEFB124 Gene

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

External Ids for DEFB124 Gene

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 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

Genomic Location for DEFB124 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for DEFB124 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DEFB124 Gene

Regulatory Elements 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

Proteomics data for DEFB124 Gene at MOPED

Post-translational modifications for DEFB124 Gene

No Post-translational modifications

Other Protein References for DEFB124 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for DEFB124 Gene

Domains for DEFB124 Gene

Gene Families for DEFB124 Gene

HGNC:
  • DEFB :Defensins, beta

Protein Domains for DEFB124 Gene

InterPro:
ProtoNet:

UniProtKB/Swiss-Prot:

DB124_HUMAN
Family:
  • Belongs to the beta-defensin family.:
    • Q8NES8
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.

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for DEFB124 Gene

Localization for DEFB124 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DEFB124 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DEFB124 Gene COMPARTMENTS Subcellular localization image for DEFB124 gene
Compartment Confidence
extracellular 3

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 for DEFB124 Gene

SuperPathways for DEFB124 Gene

Superpath Contained pathways
1 Defensins
.80
genes like me logo Genes that share pathways with DEFB124: view

Pathways by source for DEFB124 Gene

2 Reactome pathways 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:0042742 defense response to bacterium IBA --
GO:0045087 innate immune response IBA --
genes like me logo Genes that share ontologies with DEFB124: view

Transcripts for DEFB124 Gene

mRNA/cDNA for DEFB124 Gene

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

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 for DEFB124 Gene

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

This gene is overexpressed in Testis (6.1) and Esophagus - Gastroesophageal Junction (5.0).

SOURCE GeneReport for Unigene cluster for DEFB124 Gene Hs.381373

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

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 36
  • 99.53 (n)
  • 98.59 (a)
DEFB124 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DEFB124 37
  • 75 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CBD124 37
  • 74 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Defb25 16
Defb25 37
  • 65 (a)
OneToOne
Species with no ortholog for DEFB124:
  • 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

Selected 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 MAF
rs172561 -- 31,472,389(+) gagac(A/C)gtgga intron-variant
rs1543438 -- 31,473,250(-) CTACC(C/T)CCCCT upstream-variant-2KB
rs4328703 -- 31,469,896(+) CCCCA(C/T)CTTTC intron-variant
rs4626001 -- 31,469,903(+) TTTCC(C/T)CCCTT intron-variant
rs4911361 -- 31,466,011(+) aatta(C/G)ccggg intron-variant

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

Variant ID Type Subtype PubMed ID
nsv470546 CNV Gain 18288195
nsv458961 CNV Gain 19166990

Relevant External Links for DEFB124 Gene

HapMap Linkage Disequilibrium report
DEFB124
Human Gene Mutation Database (HGMD)
DEFB124

Disorders for DEFB124 Gene

No disorders were found for DEFB124 Gene.

No data available for UniProtKB/Swiss-Prot for DEFB124 Gene

Publications for DEFB124 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
  2. 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
  3. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P. … Rogers J. (Nature 2001) 3 4
  4. 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) 23
  5. 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

Products for DEFB124 Gene

Sources for DEFB124 Gene

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