This gene encodes a member of the beta subfamily of defensins. Beta-defensins are antimicrobial peptides that protect tissues and organs from infection by a variety of microorganisms. This gene is found in a cluster with other beta-defensin genes on the long arm of chromosome 20. Two transcript variants encoding different isoforms have been found for this gene. [provided by Ref... See more...

Aliases for DEFB121 Gene

Aliases for DEFB121 Gene

  • Defensin Beta 121 2 3 5
  • Defensin, Beta 121 2 4
  • Defensin, Beta 21 2 3
  • Beta-Defensin 121 3 4
  • Beta-Defensin 21 3 4
  • DEFB-21 2 4
  • DEFB21 3 4
  • Epididymis Secretory Sperm Binding Protein 3
  • ESC42RELC 3
  • DEFB121 5

External Ids for DEFB121 Gene

Previous GeneCards Identifiers for DEFB121 Gene

  • GC20U990236
  • GC20M029456
  • GC20M029992
  • GC20M026781

Summaries for DEFB121 Gene

Entrez Gene Summary for DEFB121 Gene

  • This gene encodes a member of the beta subfamily of defensins. Beta-defensins are antimicrobial peptides that protect tissues and organs from infection by a variety of microorganisms. This gene is found in a cluster with other beta-defensin genes on the long arm of chromosome 20. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2014]

GeneCards Summary for DEFB121 Gene

DEFB121 (Defensin Beta 121) is a Protein Coding gene. Diseases associated with DEFB121 include Pneumonic Tularemia and Epididymis Disease. Among its related pathways are Defensins and Innate Immune System. An important paralog of this gene is DEFB123.

UniProtKB/Swiss-Prot Summary for DEFB121 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DEFB121 Gene

Genomics for DEFB121 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DEFB121 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
GH20J031709 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 5 -298.7 -298703 14.8 BCLAF1 SP1 ZNF207 MYC IKZF1 ZNF654 ZNF600 SSRP1 JUND ZNF592 BCL2L1 TM9SF4 ASXL1 PLAGL2 MYLK2 MCTS2P COX4I2 BAK1P1 POFUT1 TSPY26P
GH20J031503 Enhancer 1.1 Ensembl ENCODE 11.1 -84.8 -84797 0.6 ZNF654 ZNF600 SSRP1 ZNF580 CEBPA CHD4 CTCF REST ZNF639 TBP piR-50443-236 piR-57460-398 DEFB121 HG984019 TRS-AGA7-1 HM13 DEFB124
GH20J031495 Enhancer 0.8 Ensembl ENCODE 10.9 -78.9 -78863 2.8 ZIC2 MBD2 ZNF341 RBM22 MYNN BMI1 RFX5 RFX1 CSDE1 ZBTB40 HM13 MYLK2 DEFB122 DEFB121 HG984019 TRS-AGA7-1 LINC00028 DEFB124
GH20J031693 Promoter/Enhancer 1.5 Ensembl ENCODE dbSUPER 5 -279.2 -279242 9.2 BCLAF1 IKZF1 ZNF600 SSRP1 JUND ZNF592 ZMYM3 ATF2 CEBPA ATF3 COX4I2 BCL2L1 ID1 HM13 DEFB121 piR-50437-395 piR-57460-400 BCL2L1-AS1 lnc-FOXS1-2
GH20J031445 Enhancer 0.6 Ensembl 10.9 -27.8 -27779 1 IKZF1 SMAD4 TAL1 TEAD3 ARID1B NR2F6 HLF TCF7 XRCC5 RNF2 DEFB119 DEFB121 DEFB123 RF00017-3196 HSALNG0129482 REM1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DEFB121 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DEFB121

Top Transcription factor binding sites by QIAGEN in the DEFB121 gene promoter:
  • ATF6
  • c-Ets-1
  • COUP
  • COUP-TF
  • COUP-TF1
  • HNF-4alpha1
  • HNF-4alpha2
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for DEFB121 Gene

Latest Assembly
chr20:31,404,845-31,418,522
(GRCh38/hg38)
Size:
13,678 bases
Orientation:
Minus strand

Previous Assembly
chr20:29,992,648-30,000,641
(GRCh37/hg19 by Entrez Gene)
Size:
7,994 bases
Orientation:
Minus strand

chr20:29,992,648-30,000,641
(GRCh37/hg19 by Ensembl)
Size:
7,994 bases
Orientation:
Minus strand

Genomic View for DEFB121 Gene

Genes around DEFB121 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DEFB121 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DEFB121 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DEFB121 Gene

Proteins for DEFB121 Gene

  • Protein details for DEFB121 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5J5C9-DB121_HUMAN
    Recommended name:
    Beta-defensin 121
    Protein Accession:
    Q5J5C9
    Secondary Accessions:
    • A1L4N1

    Protein attributes for DEFB121 Gene

    Size:
    76 amino acids
    Molecular mass:
    8456 Da
    Quaternary structure:
    No Data Available

neXtProt entry for DEFB121 Gene

Post-translational modifications for DEFB121 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DEFB121 Gene

No data available for DME Specific Peptides for DEFB121 Gene

Domains & Families for DEFB121 Gene

Gene Families for DEFB121 Gene

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

Protein Domains for DEFB121 Gene

InterPro:

Suggested Antigen Peptide Sequences for DEFB121 Gene

GenScript: Design optimal peptide antigens:
  • Defensin, beta 121 (DB121_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q5J5C9

UniProtKB/Swiss-Prot:

DB121_HUMAN :
  • Belongs to the beta-defensin family.
Family:
  • Belongs to the beta-defensin family.
genes like me logo Genes that share domains with DEFB121: view

Function for DEFB121 Gene

Molecular function for DEFB121 Gene

UniProtKB/Swiss-Prot Function:
Has antibacterial activity.

Phenotypes From GWAS Catalog for DEFB121 Gene

Gene Ontology (GO) - Molecular Function for DEFB121 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with DEFB121: view

Phenotypes for DEFB121 Gene

genes like me logo Genes that share phenotypes with DEFB121: view

miRNA for DEFB121 Gene

miRTarBase miRNAs that target DEFB121

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DEFB121

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for DEFB121 Gene

Localization for DEFB121 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DEFB121 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 DEFB121 gene
Compartment Confidence
extracellular 4
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for DEFB121 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
genes like me logo Genes that share ontologies with DEFB121: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for DEFB121 Gene

Pathways & Interactions for DEFB121 Gene

PathCards logo

SuperPathways for DEFB121 Gene

genes like me logo Genes that share pathways with DEFB121: view

Pathways by source for DEFB121 Gene

Gene Ontology (GO) - Biological Process for DEFB121 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 DEFB121: view

No data available for SIGNOR curated interactions for DEFB121 Gene

Drugs & Compounds for DEFB121 Gene

No Compound Related Data Available

Transcripts for DEFB121 Gene

mRNA/cDNA for DEFB121 Gene

2 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DEFB121

Alternative Splicing Database (ASD) splice patterns (SP) for DEFB121 Gene

No ASD Table

Relevant External Links for DEFB121 Gene

GeneLoc Exon Structure for
DEFB121

Expression for DEFB121 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DEFB121 Gene

mRNA differential expression in normal tissues according to GTEx for DEFB121 Gene

This gene is overexpressed in Testis (x53.0).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DEFB121

SOURCE GeneReport for Unigene cluster for DEFB121 Gene:

Hs.272294

mRNA Expression by UniProt/SwissProt for DEFB121 Gene:

Q5J5C9-DB121_HUMAN
Tissue specificity: Abundant expression in the male reproductive tract only.
genes like me logo Genes that share expression patterns with DEFB121: view

Primer products for research

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 , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for DEFB121 Gene

Orthologs for DEFB121 Gene

This gene was present in the common ancestor of mammals.

Orthologs for DEFB121 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia DEFB121 29 30
  • 99.56 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CBD121 30
  • 58 (a)
OneToOne
Species where no ortholog for DEFB121 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)
  • Mouse (Mus musculus)
  • 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 DEFB121 Gene

ENSEMBL:
Gene Tree for DEFB121 (if available)
TreeFam:
Gene Tree for DEFB121 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DEFB121: view image
Alliance of Genome Resources:
Additional Orthologs for DEFB121

Paralogs for DEFB121 Gene

(7) SIMAP similar genes for DEFB121 Gene using alignment to 1 proteins:

  • DB121_HUMAN
genes like me logo Genes that share paralogs with DEFB121: view

Variants for DEFB121 Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for DEFB121 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for DEFB121 Gene

Variant ID Type Subtype PubMed ID
dgv4299n100 CNV gain 25217958
dgv4300n100 CNV gain 25217958
esv2763228 CNV gain 21179565
esv3645644 CNV loss 21293372
esv3645645 CNV gain 21293372
esv3645647 CNV gain 21293372
nsv1060041 CNV gain 25217958
nsv1066091 CNV gain 25217958
nsv458961 CNV gain 19166990
nsv470546 CNV gain 18288195
nsv585910 CNV gain 21841781
nsv585911 CNV gain 21841781

Variation tolerance for DEFB121 Gene

Residual Variation Intolerance Score: 49.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.16; 3.65% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DEFB121 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DEFB121
Leiden Open Variation Database (LOVD)
DEFB121

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DEFB121 Gene

Disorders for DEFB121 Gene

MalaCards: The human disease database

(2) MalaCards diseases for DEFB121 Gene - From: COP

Disorder Aliases PubMed IDs
pneumonic tularemia
  • bronchopneumonic tularemia
epididymis disease
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for DEFB121

genes like me logo Genes that share disorders with DEFB121: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DEFB121 Gene

Publications for DEFB121 Gene

  1. Identification, characterization, and evolution of a primate beta-defensin gene cluster. (PMID: 15772680) Radhakrishnan Y … Hall SH (Genes and immunity 2005) 3 4
  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
  3. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P … Rogers J (Nature 2001) 3 4
  4. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  5. E3 ubiquitin ligase RNF123 targets lamin B1 and lamin-binding proteins. (PMID: 29676528) Khanna R … Parnaik VK (The FEBS journal 2018) 3

Products for DEFB121 Gene

Sources for DEFB121 Gene