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Aliases for DEFB104A Gene

Aliases for DEFB104A Gene

  • Defensin Beta 104A 2 3 5
  • Defensin, Beta 104A 2 3
  • Defensin, Beta 104 2 4
  • DEFB104 3 4
  • DEFB-4 3 4
  • DEFB4 3 4
  • HBD-4 3 4
  • BD-4 3 4
  • DEFB104A DEFB104B 4
  • Defensin, Beta 4 3
  • Beta-Defensin 4 4

External Ids for DEFB104A Gene

Previous HGNC Symbols for DEFB104A Gene

  • DEFB104

Previous GeneCards Identifiers for DEFB104A Gene

  • GC08M007316
  • GC08P007732
  • GC08P007693

Summaries for DEFB104A Gene

Entrez Gene Summary for DEFB104A Gene

  • Defensins form a family of antimicrobial and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. Chromosome 8p23 contains at least two copies of the duplicated beta-defensin cluster. This duplication results in two identical copies of defensin, beta 104, DEFB104A and DEFB104B, in head-to-head orientation. This gene, DEFB104A, represents the more centromeric copy. [provided by RefSeq, Oct 2014]

GeneCards Summary for DEFB104A Gene

DEFB104A (Defensin Beta 104A) is a Protein Coding gene. Among its related pathways are Immune System and Defensins. An important paralog of this gene is DEFB104B.

UniProtKB/Swiss-Prot for DEFB104A Gene

  • Has antimicrobial activity. Synergistic effects with lysozyme and DEFB103.

Gene Wiki entry for DEFB104A Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DEFB104A Gene

Genomics for DEFB104A Gene

Regulatory Elements for DEFB104A Gene

Genomic Location for DEFB104A Gene

Chromosome:
8
Start:
7,836,471 bp from pter
End:
7,841,242 bp from pter
Size:
4,772 bases
Orientation:
Plus strand

Genomic View for DEFB104A Gene

Genes around DEFB104A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DEFB104A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DEFB104A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DEFB104A Gene

Proteins for DEFB104A Gene

  • Protein details for DEFB104A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WTQ1-D104A_HUMAN
    Recommended name:
    Beta-defensin 104
    Protein Accession:
    Q8WTQ1
    Secondary Accessions:
    • Q496I2
    • Q496I3
    • Q496I4

    Protein attributes for DEFB104A Gene

    Size:
    72 amino acids
    Molecular mass:
    8526 Da
    Quaternary structure:
    No Data Available

neXtProt entry for DEFB104A Gene

Proteomics data for DEFB104A Gene at MOPED

Post-translational modifications for DEFB104A Gene

No Post-translational modifications

Other Protein References for DEFB104A Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DEFB104A Gene

Domains & Families for DEFB104A Gene

Gene Families for DEFB104A Gene

Protein Domains for DEFB104A Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q8WTQ1

UniProtKB/Swiss-Prot:

D104A_HUMAN :
  • Belongs to the beta-defensin family.
Family:
  • Belongs to the beta-defensin family.
genes like me logo Genes that share domains with DEFB104A: view

No data available for Suggested Antigen Peptide Sequences for DEFB104A Gene

Function for DEFB104A Gene

Molecular function for DEFB104A Gene

UniProtKB/Swiss-Prot Function:
Has antimicrobial activity. Synergistic effects with lysozyme and DEFB103.
UniProtKB/Swiss-Prot Induction:
Antimicrobial activity is decreased when the sodium chloride concentration is increased.
genes like me logo Genes that share phenotypes with DEFB104A: view

Animal Model Products

miRNA for DEFB104A Gene

miRTarBase miRNAs that target DEFB104A

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for DEFB104A Gene

Localization for DEFB104A Gene

Subcellular locations from UniProtKB/Swiss-Prot for DEFB104A Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DEFB104A Gene COMPARTMENTS Subcellular localization image for DEFB104A gene
Compartment Confidence
extracellular 5

No data available for Gene Ontology (GO) - Cellular Components for DEFB104A Gene

Pathways & Interactions for DEFB104A Gene

SuperPathways for DEFB104A Gene

Superpath Contained pathways
1 Immune System
2 Defensins
.82
genes like me logo Genes that share pathways with DEFB104A: view

Pathways by source for DEFB104A Gene

4 Reactome pathways for DEFB104A Gene

Interacting Proteins for DEFB104A Gene

Gene Ontology (GO) - Biological Process for DEFB104A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0045087 innate immune response IBA --
genes like me logo Genes that share ontologies with DEFB104A: view

No data available for SIGNOR curated interactions for DEFB104A Gene

Drugs & Compounds for DEFB104A Gene

(2) Additional Compounds for DEFB104A Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Chloride ion
  • Bertholite
  • Chloor
  • Chlor
  • Chlore
  • Chloride
16887-00-6
sodium
  • Sodium
  • Sodium ion
7440-23-5
genes like me logo Genes that share compounds with DEFB104A: view

Transcripts for DEFB104A Gene

mRNA/cDNA for DEFB104A Gene

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

Alternative Splicing Database (ASD) splice patterns (SP) for DEFB104A Gene

No ASD Table

Relevant External Links for DEFB104A Gene

GeneLoc Exon Structure for
DEFB104A
ECgene alternative splicing isoforms for
DEFB104A

Expression for DEFB104A Gene

mRNA expression in normal human tissues for DEFB104A Gene

Protein differential expression in normal tissues from HIPED for DEFB104A Gene

This gene is overexpressed in Peripheral blood mononuclear cells (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for DEFB104A Gene



SOURCE GeneReport for Unigene cluster for DEFB104A Gene Hs.559507

mRNA Expression by UniProt/SwissProt for DEFB104A Gene

Q8WTQ1-D104A_HUMAN
Tissue specificity: High expression in the testis. Gastric antrum exhibited relatively high levels. A lower expression is observed in uterus and neutrophils thyroid gland, lung, and kidney. No detectable expression in other tissues tested.
genes like me logo Genes that share expression patterns with DEFB104A: view

Protein tissue co-expression partners for DEFB104A Gene

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for DEFB104A Gene

Orthologs for DEFB104A Gene

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

Orthologs for DEFB104A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DEFB104 35
  • 100 (n)
  • 100 (a)
DEFB104 36
  • 100 (a)
OneToMany
Species with no ortholog for DEFB104A:
  • 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 DEFB104A Gene

ENSEMBL:
Gene Tree for DEFB104A (if available)
TreeFam:
Gene Tree for DEFB104A (if available)

Paralogs for DEFB104A Gene

Paralogs for DEFB104A Gene

(4) SIMAP similar genes for DEFB104A Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with DEFB104A: view

Variants for DEFB104A Gene

Sequence variations from dbSNP and Humsavar for DEFB104A Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
VAR_024767 -
rs2739960 -- 7,836,847(+) CAGCA(A/G)TGAGG intron-variant
rs2739962 -- 7,836,886(+) GGGCA(A/G)CAGCA intron-variant
rs2740008 -- 7,838,782(+) agctg(C/T)atcac intron-variant
rs2740022 -- 7,840,876(+) GTCAA(A/G)TCAAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DEFB104A Gene

Variant ID Type Subtype PubMed ID
nsv428194 CNV Gain+Loss 18775914
dgv2191e1 CNV Complex 17122850
nsv515968 CNV Gain+Loss 19592680
nsv821656 CNV Gain 15273396
dgv2192e1 CNV Complex 17122850
esv2736558 CNV Deletion 23290073
nsv510977 CNV Complex 20534489
dgv2193e1 CNV Complex 17122850
dgv7659n71 CNV Gain 21882294
esv21583 CNV Gain+Loss 19812545
nsv890078 CNV Gain 21882294
esv33606 CNV Gain+Loss 17666407
dgv7661n71 CNV Gain 21882294
dgv7662n71 CNV Gain 21882294
nsv8281 CNV Gain+Loss 18304495
dgv7663n71 CNV Loss 21882294
dgv7664n71 CNV Loss 21882294
dgv2194e1 CNV Complex 17122850
nsv471650 CNV Gain+Loss 15918152
dgv2195e1 CNV Complex 17122850
dgv7666n71 CNV Gain 21882294
dgv7667n71 CNV Gain+Loss 21882294
dgv7668n71 CNV Gain 21882294
dgv7669n71 CNV Gain 21882294
dgv7670n71 CNV Loss 21882294
dgv7672n71 CNV Gain+Loss 21882294
dgv7673n71 CNV Gain+Loss 21882294
esv996398 CNV Gain 20482838
nsv890110 CNV Gain 21882294
esv2752265 CNV Gain 17911159
nsv824519 CNV Loss 20364138
nsv824521 CNV Gain 20364138
nsv515100 CNV Complex 21397061
dgv31n14 CNV Loss 18776910
dgv7675n71 CNV Loss 21882294
nsv890153 CNV Loss 21882294
nsv442397 CNV CNV 18776908
nsv469521 CNV Complex 16826518
dgv7677n71 CNV Gain+Loss 21882294
dgv7678n71 CNV Gain 21882294
dgv7679n71 CNV Gain 21882294
dgv25n31 CNV Duplication 19718026
dgv7680n71 CNV Loss 21882294
dgv7681n71 CNV Gain 21882294
esv2752266 CNV Loss 17911159
nsv890230 CNV Gain+Loss 21882294
nsv890228 CNV Gain 21882294
nsv508496 CNV Loss 20534489
dgv7682n71 CNV Gain 21882294
esv25631 CNV Gain+Loss 19812545
nsv890256 CNV Gain+Loss 21882294
dgv7683n71 CNV Gain+Loss 21882294
dgv7684n71 CNV Loss 21882294
dgv7685n71 CNV Gain 21882294
nsv890270 CNV Loss 21882294
dgv7686n71 CNV Gain 21882294
dgv7687n71 CNV Gain 21882294
esv992071 CNV Gain 20482838
dgv7688n71 CNV Gain 21882294
dgv7689n71 CNV Gain 21882294
nsv433398 CNV Gain 18776910
dgv7690n71 CNV Gain+Loss 21882294
dgv7691n71 CNV Gain 21882294
dgv26n31 CNV Duplication 19718026
dgv1170n67 CNV Loss 20364138
nsv824524 CNV Gain+Loss 20364138
dgv7692n71 CNV Gain 21882294
dgv7693n71 CNV Gain+Loss 21882294
dgv7694n71 CNV Loss 21882294
dgv7695n71 CNV Gain 21882294
nsv890300 CNV Loss 21882294

Variation tolerance for DEFB104A Gene

Residual Variation Intolerance Score: 69.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.02; 0.35% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DEFB104A Gene

HapMap Linkage Disequilibrium report
DEFB104A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DEFB104A Gene

Disorders for DEFB104A Gene

Relevant External Links for DEFB104A

Genetic Association Database (GAD)
DEFB104A
Human Genome Epidemiology (HuGE) Navigator
DEFB104A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DEFB104A

No disorders were found for DEFB104A Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for DEFB104A Gene

Publications for DEFB104A Gene

  1. Distribution of human beta-defensin polymorphisms in various control and cystic fibrosis populations. (PMID: 15820309) Vankeerberghen A. … Cuppens H. (Genomics 2005) 3 23 48 67
  2. Low expression of human beta-defensin 1 in duodenum of celiac patients is partially restored by a gluten-free diet. (PMID: 20128731) Intrieri M. … Nardone G. (Clin. Chem. Lab. Med. 2010) 3 23
  3. Evidence for duplication of the human defensin gene DEFB4 in chromosomal region 8p22-23 and implications for the analysis of SNP allele distribution. (PMID: 15727258) Boniotto M. … Gallagher G. (Genet. Test. 2004) 3 23
  4. Expression of I^-defensin-4 in "an in vivo and ex vivo model" of human osteoarthritic knee meniscus. (PMID: 21879330) Musumeci G. … Loreto C. (Knee Surg Sports Traumatol Arthrosc 2012) 3
  5. Trefoil factor 3 isolated from human breast milk downregulates cytokines (IL8 and IL6) and promotes human beta defensin (hBD2 and hBD4) expression in intestinal epithelial cells HT-29. (PMID: 23198942) Barrera G.J. … Gonzalez J.E. (Bosn J Basic Med Sci 2012) 3

Products for DEFB104A Gene

Sources for DEFB104A Gene

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