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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 Immune System and Defensins.

UniProtKB/Swiss-Prot for DEFB121 Gene

  • Has antibacterial activity.

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

Genomics for DEFB121 Gene

Regulatory Elements for DEFB121 Gene

Enhancers for DEFB121 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
GH20F031709 1.4 FANTOM5 Ensembl ENCODE 19.4 -298.1 -298121 14.7 MLX ZFP64 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC TBX21 MYLK2 COX4I2 DEFB121 RNU1-94P DEFB122 DEFB123 DEFB118 REM1 LOC105372589 ID1
GH20F031513 0.7 FANTOM5 ENCODE 16.3 -96.9 -96915 4.3 HDGF CREB3L1 MLX WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 HM13 DEFB124 DEFB123 DEFB122 DEFB121 DEFB118 RNU1-94P REM1 PDRG1 ENSG00000274364
GH20F031661 1.3 FANTOM5 Ensembl ENCODE 16.2 -247.4 -247403 10.6 HDGF PKNOX1 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 SLC30A9 ZNF143 DEFB123 RNU1-94P DEFB122 DEFB121 DEFB118 PDRG1 HM13 COX4I2 TTLL9 MYLK2
GH20F031503 0.9 Ensembl ENCODE 11.1 -84.2 -84233 0.6 ARID4B ZNF48 ZNF2 GLIS2 ZNF143 KLF7 ZNF263 MIER2 REST ZNF518A TSPY26P DEFB121 TRS-AGA7-1 HM13
GH20F031495 1 Ensembl ENCODE 10.9 -78.2 -78198 2.6 MXI1 MAX KLF17 ZMYM3 BMI1 ZBTB40 ZIC2 ZFHX2 GATA3 PRDM10 HM13 DEFB122 DEFB121 TRS-AGA7-1 LINC00028
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around DEFB121 on UCSC Golden Path with GeneCards custom track

Genomic Location for DEFB121 Gene

Chromosome:
20
Start:
31,404,845 bp from pter
End:
31,419,068 bp from pter
Size:
14,224 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

No Post-translational modifications

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

Protein Domains for DEFB121 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DEFB121 Gene

GenScript: Design optimal peptide antigens:

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.

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

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

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry 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

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DEFB121 Gene 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

Pathways & Interactions for DEFB121 Gene

SuperPathways for DEFB121 Gene

SuperPathway Contained pathways
1 Defensins
.83
2 Immune System
genes like me logo Genes that share pathways with DEFB121: view

Pathways by source for DEFB121 Gene

4 Reactome pathways for DEFB121 Gene

Interacting Proteins for DEFB121 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000417128%0d%0a9606.ENSP00000316130%0d%0a
Selected Interacting proteins: ENSP00000417128 Q5J5C9-DB121_HUMAN for DEFB121 Gene via STRING UniProtKB IID

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

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:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for DEFB121 Gene

GeneLoc Exon Structure for
DEFB121
ECgene alternative splicing isoforms 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).

NURSA nuclear receptor signaling pathways regulating expression of DEFB121 Gene:

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

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners 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 34 35
  • 99.56 (n)
dog
(Canis familiaris)
Mammalia CBD121 35
  • 58 (a)
OneToOne
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

ENSEMBL:
Gene Tree for DEFB121 (if available)
TreeFam:
Gene Tree for DEFB121 (if available)

Paralogs for DEFB121 Gene

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

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 Sequence Context AA Info Type
rs10712827 -- 31,413,701(+) TAACT(-/C)CACTG intron-variant, upstream-variant-2KB
rs111257128 -- 31,406,009(+) TTCTC(C/T)CAGCC intron-variant
rs111346942 -- 31,405,119(+) AGTCA(A/G)TTTTG intron-variant
rs111529485 -- 31,420,303(+) TTTCC(A/C)TTATA upstream-variant-2KB
rs111578119 -- 31,408,882(+) TTAGC(C/T)ATGTG intron-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)

Relevant External Links for DEFB121 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DEFB121

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

Disorders for DEFB121 Gene

Relevant External Links for DEFB121

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 S.H. (Genes Immun. 2005) 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 64
  3. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P. … Rogers J. (Nature 2001) 3 4 64
  4. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 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 DEFB121 Gene

Sources for DEFB121 Gene

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