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Aliases for DEFB134 Gene

Aliases for DEFB134 Gene

  • Defensin Beta 134 2 3 5
  • Defensin, Beta 134 2 4

External Ids for DEFB134 Gene

Previous GeneCards Identifiers for DEFB134 Gene

  • GC00U921672
  • GC08M011888
  • GC08M011851
  • GC08M010782

Summaries for DEFB134 Gene

Entrez Gene Summary for DEFB134 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 8p23. [provided by RefSeq, Nov 2014]

GeneCards Summary for DEFB134 Gene

DEFB134 (Defensin Beta 134) is a Protein Coding gene. Diseases associated with DEFB134 include Atrioventricular Septal Defect and Diaphragmatic Hernia, Congenital. Among its related pathways are Defensins and Innate Immune System.

UniProtKB/Swiss-Prot for DEFB134 Gene

  • Has antibacterial activity.

Additional gene information for DEFB134 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DEFB134 Gene

Genomics for DEFB134 Gene

GeneHancer (GH) Regulatory Elements for DEFB134 Gene

Promoters and enhancers for DEFB134 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
GH08I011996 Promoter 0.5 EPDnew 550.8 +4.4 4418 0.1 DEFB134 LOC100421446 DEFB135 GC08M011947
GH08I011563 Enhancer 1.4 Ensembl ENCODE dbSUPER 10.4 +436.5 436460 1.8 HDGF ATF1 MLX ARID4B SIN3A DMAP1 ZNF2 ZNF48 GLIS2 ARID2 LOC105379241 ENSG00000255518 FAM167A DEFB134 LOC100421446 FAM66D ENSG00000255354 LINC00208 BLK
GH08I011954 Enhancer 1 Ensembl ENCODE 10.9 +44.9 44928 1.7 FOXA2 KLF17 ZNF2 ZNF335 GLIS2 RCOR1 ZNF362 RXRA ZBTB11 CEBPB DEFB134 LOC100421446 FAM66A ENSG00000255310 LINC00681 GC08P011959 PIR47001 LOC105379244 GC08M011947
GH08I011571 Enhancer 0.9 ENCODE dbSUPER 10.4 +428.2 428168 1.9 ZNF449 NFIB MAX CEBPG ZIC2 RAD21 ZFHX2 GATA3 RCOR1 FOS LOC105379241 FAM167A LOC100421446 DEFB134 FAM66D LINC00208 ENSG00000255354
GH08I011566 Enhancer 0.9 ENCODE dbSUPER 10.4 +433.5 433513 1 BCOR ELF3 CTCF PKNOX1 RB1 RAD21 GATA3 ARID2 ZNF143 SMC3 LOC105379241 ENSG00000255518 FAM167A DEFB134 LOC100421446 LINC00208 ENSG00000255354
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around DEFB134 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DEFB134 gene promoter:

Genomic Locations for DEFB134 Gene

Genomic Locations for DEFB134 Gene
chr8:11,993,174-12,000,752
(GRCh38/hg38)
Size:
7,579 bases
Orientation:
Minus strand
chr8:11,850,692-11,853,821
(GRCh37/hg19)

Genomic View for DEFB134 Gene

Genes around DEFB134 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DEFB134 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DEFB134 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DEFB134 Gene

Proteins for DEFB134 Gene

  • Protein details for DEFB134 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q4QY38-DB134_HUMAN
    Recommended name:
    Beta-defensin 134
    Protein Accession:
    Q4QY38
    Secondary Accessions:
    • A1L4A4

    Protein attributes for DEFB134 Gene

    Size:
    66 amino acids
    Molecular mass:
    7552 Da
    Quaternary structure:
    No Data Available

neXtProt entry for DEFB134 Gene

Post-translational modifications for DEFB134 Gene

No Post-translational modifications

Other Protein References for DEFB134 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DEFB134 Gene

Domains & Families for DEFB134 Gene

Gene Families for DEFB134 Gene

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

Protein Domains for DEFB134 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DEFB134 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q4QY38

UniProtKB/Swiss-Prot:

DB134_HUMAN :
  • Belongs to the beta-defensin family.
Family:
  • Belongs to the beta-defensin family.
genes like me logo Genes that share domains with DEFB134: view

Function for DEFB134 Gene

Molecular function for DEFB134 Gene

UniProtKB/Swiss-Prot Function:
Has antibacterial activity.

Phenotypes for DEFB134 Gene

GenomeRNAi human phenotypes for DEFB134:
genes like me logo Genes that share phenotypes with DEFB134: view

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for DEFB134 Gene

Localization for DEFB134 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DEFB134 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 DEFB134 gene
Compartment Confidence
extracellular 5

Gene Ontology (GO) - Cellular Components for DEFB134 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 DEFB134: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for DEFB134 Gene

Pathways & Interactions for DEFB134 Gene

genes like me logo Genes that share pathways with DEFB134: view

Pathways by source for DEFB134 Gene

Interacting Proteins for DEFB134 Gene

Gene Ontology (GO) - Biological Process for DEFB134 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006952 defense response IEA --
GO:0042742 defense response to bacterium IBA,IEA --
GO:0045087 innate immune response IBA --
genes like me logo Genes that share ontologies with DEFB134: view

No data available for SIGNOR curated interactions for DEFB134 Gene

Drugs & Compounds for DEFB134 Gene

No Compound Related Data Available

Transcripts for DEFB134 Gene

mRNA/cDNA for DEFB134 Gene

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

Unigene Clusters for DEFB134 Gene

Defensin, beta 134:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for DEFB134 Gene

No ASD Table

Relevant External Links for DEFB134 Gene

GeneLoc Exon Structure for
DEFB134
ECgene alternative splicing isoforms for
DEFB134

Expression for DEFB134 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DEFB134 Gene

mRNA differential expression in normal tissues according to GTEx for DEFB134 Gene

This gene is overexpressed in Testis (x20.7), Pancreas (x5.2), Brain - Cerebellum (x4.7), and Brain - Cerebellar Hemisphere (x4.1).

NURSA nuclear receptor signaling pathways regulating expression of DEFB134 Gene:

DEFB134

SOURCE GeneReport for Unigene cluster for DEFB134 Gene:

Hs.631852
genes like me logo Genes that share expression patterns with DEFB134: 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 , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for DEFB134 Gene

Orthologs for DEFB134 Gene

This gene was present in the common ancestor of human and chimp.

Orthologs for DEFB134 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DEFB134 34
  • 100 (a)
OneToOne
Species where no ortholog for DEFB134 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)
  • dog (Canis familiaris)
  • 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 DEFB134 Gene

ENSEMBL:
Gene Tree for DEFB134 (if available)
TreeFam:
Gene Tree for DEFB134 (if available)

Paralogs for DEFB134 Gene

(3) SIMAP similar genes for DEFB134 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with DEFB134: view

No data available for Paralogs for DEFB134 Gene

Variants for DEFB134 Gene

Sequence variations from dbSNP and Humsavar for DEFB134 Gene

SNP ID Clin Chr 08 pos Variation AA Info Type
rs1000288604 -- 11,995,585(-) A/G intron_variant
rs1000362230 -- 11,996,002(-) G/C intron_variant
rs1000482006 -- 12,000,307(-) G/A 5_prime_UTR_variant, intron_variant
rs1000592066 -- 12,000,605(-) T/G genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1001349391 -- 11,996,987(-) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for DEFB134 Gene

Variant ID Type Subtype PubMed ID
dgv1269e199 CNV deletion 23128226
esv2736614 CNV deletion 23290073
esv2759593 CNV gain+loss 17122850
esv33396 CNV loss 17666407
esv3616263 CNV loss 21293372
esv3862 OTHER sequence alteration 18987735
nsv1016332 CNV gain 25217958
nsv1018042 CNV gain 25217958
nsv1026344 CNV loss 25217958
nsv1034132 CNV gain 25217958
nsv428195 CNV gain 18775914
nsv465468 CNV gain 19166990
nsv516685 CNV gain+loss 19592680
nsv6080 CNV insertion 18451855
nsv610293 CNV gain 21841781
nsv610294 CNV gain 21841781

Variation tolerance for DEFB134 Gene

Residual Variation Intolerance Score: 51.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.22; 5.00% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DEFB134 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DEFB134

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DEFB134 Gene

Disorders for DEFB134 Gene

MalaCards: The human disease database

(2) MalaCards diseases for DEFB134 Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for DEFB134

genes like me logo Genes that share disorders with DEFB134: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DEFB134 Gene

Publications for DEFB134 Gene

  1. Cross-species analysis of the mammalian beta-defensin gene family: presence of syntenic gene clusters and preferential expression in the male reproductive tract. (PMID: 16033865) Patil AA … Zhang G (Physiological genomics 2005) 2 3 4 58
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 4 58
  3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 3 58

Products for DEFB134 Gene

Sources for DEFB134 Gene

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