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Aliases for DEFB121 Gene

Aliases for DEFB121 Gene

  • Defensin Beta 121 2 3 5
  • Defensin, Beta 121 2 3 4
  • Beta-Defensin 21 3 4
  • DEFB21 3 4
  • Defensin, Beta 21 3
  • ESC42RELC 3
  • Defensin 2
  • Beta 21 2
  • 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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

Proteomics data for DEFB121 Gene at MOPED

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 --
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

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

No data available for Gene Ontology (GO) - Cellular Components for DEFB121 Gene

Pathways & Interactions for DEFB121 Gene

SuperPathways for DEFB121 Gene

Superpath Contained pathways
1 Defensins
.82
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

Gene Ontology (GO) - Biological Process for DEFB121 Gene

GO ID Qualified GO term Evidence PubMed IDs
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

(6) 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:

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 for DEFB121 Gene

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

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

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 35
  • 99.56 (n)
  • 98.68 (a)
DEFB121 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CBD121 36
  • 58 (a)
OneToOne
Species with no ortholog for DEFB121:
  • 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
rs721220 -- 31,418,506(+) TAAGA(C/T)TCGCC intron-variant, upstream-variant-2KB, utr-variant-5-prime
rs721221 -- 31,418,684(+) ggggt(A/G)gccct intron-variant, upstream-variant-2KB
rs734417 -- 31,411,086(-) CATGC(A/T)CATAA intron-variant
rs734418 -- 31,411,182(-) AGGCA(A/T)TTTGT intron-variant
rs760996 -- 31,410,787(-) CCTTC(C/T)AACCA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv470546 CNV Gain 18288195
nsv458961 CNV Gain 19166990
nsv912835 CNV Gain 21882294

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)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links 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 67
  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
  3. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3
  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. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3

Products for DEFB121 Gene

Sources for DEFB121 Gene

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