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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 21 3 4
  • DEFB21 3 4
  • Beta-Defensin 121 3
  • ESC42RELC 3
  • DEFB-21 4

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. Among its related pathways are Defensins and Innate Immune System.

UniProtKB/Swiss-Prot for DEFB121 Gene

  • Has antibacterial activity.

Additional gene information for DEFB121 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DEFB121 Gene

Genomics for DEFB121 Gene

GeneHancer (GH) Regulatory Elements for DEFB121 Gene

Promoters and enhancers for DEFB121 Gene
GeneHancer (GH) Identifier GH Type GH
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 2.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 17.9 -298.1 -298120 14.7 MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 BCL2L1 ASXL1 TM9SF4 PLAGL2 MYLK2 COX4I2 PDRG1 DEFB121 RNU1-94P DEFB122
GH20J031513 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 14.7 -96.9 -96915 4.3 HDGF SMAD1 FOXA2 MLX ARNT ARID4B SIN3A YBX1 DMAP1 ZNF2 HM13 ASXL1 DEFB124 DEFB123 DEFB122 DEFB121 DEFB118 RNU1-94P REM1 PDRG1
GH20J031661 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 14.6 -247.4 -247403 10.6 HDGF PKNOX1 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 ASXL1 PDRG1 DEFB123 RNU1-94P DEFB122 DEFB121 DEFB118 TM9SF4 HM13 COX4I2
GH20J031503 Enhancer 1 ENCODE 11.1 -84.2 -84235 0.2 ATF1 FOXA2 ARID4B SIN3A ZNF2 ZNF48 GLIS2 ARID2 ZNF143 KLF7 DEFB121 TRS-AGA7-1 HM13
GH20J031495 Enhancer 0.9 Ensembl ENCODE 10.9 -78.2 -78198 2.6 MXI1 MAX KLF17 ZMYM3 BMI1 ZBTB40 ZIC2 RFX5 ZFHX2 GATA3 HM13 DEFB122 DEFB121 TRS-AGA7-1 LINC00028
- 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 UCSC Golden Path with GeneCards custom track

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

Genomic Locations for DEFB121 Gene

Genomic Locations for DEFB121 Gene
14,224 bases
Minus strand
7,994 bases
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:
    Recommended name:
    Beta-defensin 121
    Protein Accession:
    Secondary Accessions:
    • A1L4N1

    Protein attributes for DEFB121 Gene

    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

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DEFB121 Gene

Domains & Families for DEFB121 Gene

Gene Families for DEFB121 Gene

Human Protein Atlas (HPA):
  • Predicted secreted proteins

Protein Domains for DEFB121 Gene


Suggested Antigen Peptide Sequences for DEFB121 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the beta-defensin 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

Animal Model Products

Clone Products

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

Localization for DEFB121 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DEFB121 Gene


Subcellular locations from

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 5

Gene Ontology (GO) - Cellular Components for DEFB121 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 DEFB121: view

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

Pathways & Interactions 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,IBA --
GO:0045087 innate immune response IBA --
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

(3) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for DEFB121 Gene

Defensin, beta 121:
Representative Sequences:

Clone Products

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

No ASD Table

Relevant External Links for DEFB121 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for DEFB121 Gene

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

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

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

NURSA nuclear receptor signaling pathways regulating expression of DEFB121 Gene:


SOURCE GeneReport for Unigene cluster for DEFB121 Gene:


mRNA Expression by UniProt/SwissProt for DEFB121 Gene:

Tissue specificity: Abundant expression in the male reproductive tract only.
genes like me logo Genes that share expression patterns with DEFB121: 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 , 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
(Pan troglodytes)
Mammalia DEFB121 34 33
  • 99.56 (n)
(Canis familiaris)
Mammalia CBD121 34
  • 58 (a)
Species where no ortholog for DEFB121 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)
  • 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 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 DEFB121 Gene

Gene Tree for DEFB121 (if available)
Gene Tree for DEFB121 (if available)
Evolutionary constrained regions (ECRs) for DEFB121: view image

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

No data available for Paralogs for DEFB121 Gene

Variants for DEFB121 Gene

Sequence variations from dbSNP and Humsavar for DEFB121 Gene

SNP ID Clin Chr 20 pos Variation AA Info Type
rs1000213770 -- 31,412,781(-) T/C 5_prime_UTR_variant, genic_upstream_transcript_variant
rs1000389393 -- 31,418,302(-) A/G genic_upstream_transcript_variant, intron_variant
rs1000548691 -- 31,414,599(-) C/T genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1001007928 -- 31,406,898(-) C/T genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1001033506 -- 31,407,743(-) T/C genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DEFB121 Gene

Disorders for DEFB121 Gene

Additional Disease Information for DEFB121

No disorders were found for DEFB121 Gene.

No data available for MalaCards , 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 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 58
  3. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P … Rogers J (Nature 2001) 3 4 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3 58

Products for DEFB121 Gene

Sources for DEFB121 Gene

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