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Aliases for DEFB127 Gene

Aliases for DEFB127 Gene

  • Defensin Beta 127 2 3 5
  • Defensin, Beta 127 2 4
  • Beta-Defensin 27 3 4
  • C20orf73 3 4
  • DEFB-27 3 4
  • DEFB27 3 4
  • Chromosome 20 Open Reading Frame 73 2
  • Beta-Defensin 127 3
  • BA530N10.2 3
  • DEF-27 3
  • HBD-27 3

External Ids for DEFB127 Gene

Previous HGNC Symbols for DEFB127 Gene

  • C20orf73

Previous GeneCards Identifiers for DEFB127 Gene

  • GC20P000126
  • GC20P000133
  • GC20P000086

Summaries for DEFB127 Gene

Entrez Gene Summary for DEFB127 Gene

  • Defensins are cysteine-rich cationic polypeptides that are important in the immunologic response to invading microorganisms. The antimicrobial protein encoded by this gene 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 20p13. [provided by RefSeq, Nov 2014]

GeneCards Summary for DEFB127 Gene

DEFB127 (Defensin Beta 127) is a Protein Coding gene. Diseases associated with DEFB127 include Exudative Vitreoretinopathy 1. Among its related pathways are Defensins and Innate Immune System.

UniProtKB/Swiss-Prot for DEFB127 Gene

  • Has antibacterial activity.

Gene Wiki entry for DEFB127 Gene

Additional gene information for DEFB127 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DEFB127 Gene

Genomics for DEFB127 Gene

GeneHancer (GH) Regulatory Elements for DEFB127 Gene

Promoters and enhancers for DEFB127 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
GH20I000157 Promoter 0.5 EPDnew 550.8 0.0 -35 0.1 DEFB127 DEFB128 DEFB126
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around DEFB127 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DEFB127 gene promoter:

Genomic Locations for DEFB127 Gene

Genomic Locations for DEFB127 Gene
chr20:157,470-159,163
(GRCh38/hg38)
Size:
1,694 bases
Orientation:
Plus strand
chr20:138,111-139,804
(GRCh37/hg19)

Genomic View for DEFB127 Gene

Genes around DEFB127 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DEFB127 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DEFB127 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DEFB127 Gene

Proteins for DEFB127 Gene

  • Protein details for DEFB127 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H1M4-DB127_HUMAN
    Recommended name:
    Beta-defensin 127
    Protein Accession:
    Q9H1M4
    Secondary Accessions:
    • Q14DW7

    Protein attributes for DEFB127 Gene

    Size:
    99 amino acids
    Molecular mass:
    11343 Da
    Quaternary structure:
    No Data Available

neXtProt entry for DEFB127 Gene

Post-translational modifications for DEFB127 Gene

No Post-translational modifications

Other Protein References for DEFB127 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DEFB127 Gene

Domains & Families for DEFB127 Gene

Gene Families for DEFB127 Gene

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

Protein Domains for DEFB127 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DEFB127 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9H1M4

UniProtKB/Swiss-Prot:

DB127_HUMAN :
  • Belongs to the beta-defensin family.
Family:
  • Belongs to the beta-defensin family.
genes like me logo Genes that share domains with DEFB127: view

Function for DEFB127 Gene

Molecular function for DEFB127 Gene

UniProtKB/Swiss-Prot Function:
Has antibacterial activity.

Phenotypes From GWAS Catalog for DEFB127 Gene

Gene Ontology (GO) - Molecular Function for DEFB127 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with DEFB127: view
genes like me logo Genes that share phenotypes with DEFB127: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for DEFB127 Gene

Localization for DEFB127 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DEFB127 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 DEFB127 gene
Compartment Confidence
extracellular 5
mitochondrion 1
nucleus 1
cytosol 1

Gene Ontology (GO) - Cellular Components for DEFB127 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005576 extracellular region IEA --
GO:0009986 cell surface IBA --
genes like me logo Genes that share ontologies with DEFB127: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for DEFB127 Gene

Pathways & Interactions for DEFB127 Gene

genes like me logo Genes that share pathways with DEFB127: view

Pathways by source for DEFB127 Gene

Gene Ontology (GO) - Biological Process for DEFB127 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006952 defense response IEA --
GO:0042742 defense response to bacterium TAS 10588992
GO:0045087 innate immune response TAS 10588992
GO:0050829 defense response to Gram-negative bacterium IDA 19373462
GO:0061844 antimicrobial humoral immune response mediated by antimicrobial peptide IDA 19373462
genes like me logo Genes that share ontologies with DEFB127: view

No data available for SIGNOR curated interactions for DEFB127 Gene

Drugs & Compounds for DEFB127 Gene

No Compound Related Data Available

Transcripts for DEFB127 Gene

mRNA/cDNA for DEFB127 Gene

(1) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(11) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for DEFB127 Gene

Defensin, beta 127:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for DEFB127 Gene

No ASD Table

Relevant External Links for DEFB127 Gene

GeneLoc Exon Structure for
DEFB127
ECgene alternative splicing isoforms for
DEFB127

Expression for DEFB127 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DEFB127 Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for DEFB127 Gene



NURSA nuclear receptor signaling pathways regulating expression of DEFB127 Gene:

DEFB127

SOURCE GeneReport for Unigene cluster for DEFB127 Gene:

Hs.99362

Evidence on tissue expression from TISSUES for DEFB127 Gene

  • Lung(4.1)
genes like me logo Genes that share expression patterns with DEFB127: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for DEFB127 Gene

Orthologs for DEFB127 Gene

This gene was present in the common ancestor of mammals.

Orthologs for DEFB127 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DEFB127 33 34
  • 98.99 (n)
cow
(Bos Taurus)
Mammalia BBD127 33
  • 79.73 (n)
dog
(Canis familiaris)
Mammalia DEFB127 33
  • 79.55 (n)
CBD127 34
  • 65 (a)
OneToOne
Species where no ortholog for DEFB127 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)
  • 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 DEFB127 Gene

ENSEMBL:
Gene Tree for DEFB127 (if available)
TreeFam:
Gene Tree for DEFB127 (if available)

Paralogs for DEFB127 Gene

(2) SIMAP similar genes for DEFB127 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with DEFB127: view

No data available for Paralogs for DEFB127 Gene

Variants for DEFB127 Gene

Sequence variations from dbSNP and Humsavar for DEFB127 Gene

SNP ID Clin Chr 20 pos Variation AA Info Type
rs1000042223 -- 155,909(+) A/G upstream_transcript_variant
rs1001586049 -- 158,757(+) C/A/T intron_variant
rs1002010518 -- 158,028(+) G/C intron_variant
rs1003421155 -- 156,806(+) A/G upstream_transcript_variant
rs1004329854 -- 159,521(+) A/C downstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for DEFB127 Gene

Variant ID Type Subtype PubMed ID
dgv4219n100 CNV gain 25217958
dgv4220n100 CNV gain 25217958
dgv65n68 CNV loss 17160897
dgv770e214 CNV gain 21293372
esv2751910 CNV loss 17911159
esv2763662 CNV gain+loss 21179565
nsv1059637 CNV loss 25217958
nsv1063539 CNV gain 25217958
nsv469544 CNV loss 16826518
nsv510776 CNV deletion 20534489
nsv527749 CNV loss 19592680
nsv585166 CNV loss 21841781

Variation tolerance for DEFB127 Gene

Residual Variation Intolerance Score: 82.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.64; 93.15% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DEFB127 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DEFB127

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DEFB127 Gene

Disorders for DEFB127 Gene

MalaCards: The human disease database

(1) MalaCards diseases for DEFB127 Gene - From: DISEASES

Disorder Aliases PubMed IDs
exudative vitreoretinopathy 1
  • evr1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for DEFB127

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with DEFB127: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DEFB127 Gene

Publications for DEFB127 Gene

  1. 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 4 58
  2. Risk of meningioma and common variation in genes related to innate immunity. (PMID: 20406964) Rajaraman P … Inskip PD (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2010) 3 44 58
  3. Polymorphisms in innate immunity genes and risk of childhood leukemia. (PMID: 20438785) Han S … Kang D (Human immunology 2010) 3 44 58
  4. Soluble fusion expression and characterization of bioactive human beta-defensin 26 and 27. (PMID: 19373462) Huang L … Jiang R (Applied microbiology and biotechnology 2009) 3 22 58
  5. Signal peptide prediction based on analysis of experimentally verified cleavage sites. (PMID: 15340161) Zhang Z … Henzel WJ (Protein science : a publication of the Protein Society 2004) 3 4 58

Products for DEFB127 Gene

Sources for DEFB127 Gene

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