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

UniProtKB/Swiss-Prot for DEFB134 Gene

  • Has antibacterial activity.

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

Regulatory Elements for DEFB134 Gene

Enhancers for DEFB134 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
GH08G011563 1.5 Ensembl ENCODE dbSUPER 10.3 +436.5 436461 1.8 HDGF PKNOX1 ATF1 MLX ARID4B SIN3A DMAP1 YBX1 ZNF2 ZNF48 LOC105379241 ENSG00000255518 FAM167A DEFB134 LOC100421446 FAM66D ENSG00000255354 LINC00208
GH08G011954 1.1 Ensembl ENCODE 10.9 +44.9 44929 1.7 KLF17 ZNF2 GLIS2 ZNF263 ZNF362 CEBPB ZNF398 REST PPARG NR2F2 DEFB134 LOC100421446 FAM66A ENSG00000255310 LINC00681 GC08P011959 PIR47001 LOC105379244
GH08G011571 1.1 ENCODE dbSUPER 10.3 +428.2 428169 1.9 NFIB RAD21 GLIS2 FOS EGR2 ZNF263 CEBPB TBX21 NFIC RAD51 LOC105379241 FAM167A DEFB134 LOC100421446 FAM66D LINC00208 ENSG00000255354
GH08G011566 1 ENCODE dbSUPER 10.3 +433.5 433514 1.0 BCOR ELF3 CTCF PKNOX1 RB1 ZMYM3 RAD21 GATA3 POLR2A SCRT2 LOC105379241 ENSG00000255518 FAM167A DEFB134 LOC100421446 LINC00208 ENSG00000255354
GH08G011958 0.7 ENCODE 10.9 +41.7 41706 0.2 HDAC1 CTCF ETV1 CEBPG RAD21 ZNF316 ZNF366 ZNF143 SMC3 ZNF654 LOC100421446 DEFB134 ENSG00000255310 LINC00681 GC08P011959 PIR47001 DEFB136
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DEFB134 on UCSC Golden Path with GeneCards custom track

Genomic Location for DEFB134 Gene

Chromosome:
8
Start:
11,993,174 bp from pter
End:
12,000,752 bp from pter
Size:
7,579 bases
Orientation:
Minus strand

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

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

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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 --
genes like me logo Genes that share ontologies with DEFB134: view

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 IEA,IBA --
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:

CRISPR Products

Inhibitory RNA Products

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 35
  • 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 Sequence Context AA Info Type
rs1000288604 -- 11,995,585(+) ACATA(A/G)AGCTC intron-variant
rs1000362230 -- 11,996,002(+) CCTTT(C/G)TCCAA intron-variant
rs1000482006 -- 12,000,307(+) AATCC(A/G)AGTAG intron-variant, upstream-variant-2KB, utr-variant-5-prime
rs1000592066 -- 12,000,605(+) GATTT(G/T)AATAA intron-variant, upstream-variant-2KB
rs1001349391 -- 11,996,987(+) TATAC(A/G)TTTGT 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)

Relevant External Links 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

Relevant External Links for DEFB134

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DEFB134

No disorders were found for DEFB134 Gene.

No data available for MalaCards , 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 A.A. … Zhang G. (Physiol. Genomics 2005) 2 3 4 64
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 4 64
  3. 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 64

Products for DEFB134 Gene

Sources for DEFB134 Gene

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