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Aliases for DEFB104A Gene

Aliases for DEFB104A Gene

  • Defensin Beta 104A 2 3 5
  • Defensin, Beta 104 2 4
  • DEFB104 3 4
  • DEFB-4 3 4
  • DEFB4 3 4
  • HBD-4 3 4
  • BD-4 3 4
  • Defensin, Beta 104A 2
  • Beta-Defensin 104 3
  • 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 Defensins and Innate Immune System. 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 CIViC summary , 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

Post-translational modifications for DEFB104A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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

Clone 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
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 DEFB104A gene
Compartment Confidence
extracellular 5

Gene Ontology (GO) - Cellular Components for DEFB104A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
genes like me logo Genes that share ontologies with DEFB104A: view

Pathways & Interactions for DEFB104A Gene

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

Pathways by source 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: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 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 :

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



Protein tissue co-expression partners for DEFB104A Gene

NURSA nuclear receptor signaling pathways regulating expression of DEFB104A Gene:

DEFB104A

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.

Evidence on tissue expression from TISSUES for DEFB104A Gene

  • Lung(4.2)
genes like me logo Genes that share expression patterns with DEFB104A: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 34 35
  • 100 (n)
Species where no ortholog for DEFB104A 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 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
rs1003059324 -- 7,837,446(+) TCCAC(C/T)GTGAT intron-variant
rs1007372848 -- 7,840,029(+) GAGAG(C/T)GCACC intron-variant
rs10089608 -- 7,836,263(+) ACCTA(A/T)GGTAA upstream-variant-2KB
rs1012549410 -- 7,837,274(+) TGAGA(A/G)AAAAT intron-variant
rs1013599467 -- 7,835,728(+) CCAGG(C/T)GTATG upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
dgv1170n67 CNV loss 20364138
dgv11911n54 CNV loss 21841781
dgv11912n54 CNV loss 21841781
dgv11913n54 CNV gain 21841781
dgv11914n54 CNV gain 21841781
dgv11915n54 CNV loss 21841781
dgv11916n54 CNV loss 21841781
dgv11917n54 CNV gain 21841781
dgv11918n54 CNV loss 21841781
dgv11919n54 CNV loss 21841781
dgv11920n54 CNV loss 21841781
dgv11928n54 CNV gain 21841781
dgv11929n54 CNV loss 21841781
dgv11930n54 CNV gain 21841781
dgv11931n54 CNV loss 21841781
dgv11932n54 CNV loss 21841781
dgv11933n54 CNV loss 21841781
dgv11934n54 CNV loss 21841781
dgv2035e212 CNV gain 25503493
dgv25n31 CNV gain 19718026
dgv26n31 CNV gain 19718026
dgv31n14 CNV loss 18776910
dgv6882n100 CNV gain 25217958
dgv6885n100 CNV gain 25217958
dgv6887n100 CNV loss 25217958
dgv6890n100 CNV gain 25217958
dgv6893n100 CNV gain 25217958
dgv6894n100 CNV gain+loss 25217958
dgv6895n100 CNV loss 25217958
dgv6896n100 CNV gain+loss 25217958
dgv6898n100 CNV loss 25217958
dgv6905n100 CNV gain 25217958
dgv6906n100 CNV gain 25217958
dgv6907n100 CNV loss 25217958
dgv6908n100 CNV gain 25217958
dgv6909n100 CNV gain 25217958
dgv6910n100 CNV gain+loss 25217958
dgv6911n100 CNV loss 25217958
dgv6912n100 CNV loss 25217958
dgv6915n100 CNV gain 25217958
dgv6921n100 CNV loss 25217958
dgv6922n100 CNV gain+loss 25217958
dgv6923n100 CNV gain+loss 25217958
dgv6924n100 CNV loss 25217958
dgv6925n100 CNV gain 25217958
dgv6926n100 CNV loss 25217958
dgv6927n100 CNV gain+loss 25217958
dgv6928n100 CNV gain 25217958
dgv6929n100 CNV loss 25217958
dgv6930n100 CNV gain+loss 25217958
dgv6931n100 CNV gain+loss 25217958
dgv6932n100 CNV gain+loss 25217958
dgv6933n100 CNV loss 25217958
dgv6934n100 CNV gain+loss 25217958
dgv6935n100 CNV gain 25217958
dgv6936n100 CNV gain+loss 25217958
dgv6937n100 CNV loss 25217958
dgv6938n100 CNV loss 25217958
dgv6939n100 CNV gain 25217958
dgv6940n100 CNV loss 25217958
dgv6941n100 CNV gain+loss 25217958
dgv6942n100 CNV loss 25217958
dgv6943n100 CNV gain 25217958
dgv6944n100 CNV gain 25217958
dgv6945n100 CNV loss 25217958
dgv6946n100 CNV gain 25217958
dgv6948n100 CNV gain+loss 25217958
dgv6949n100 CNV gain 25217958
dgv6950n100 CNV loss 25217958
dgv6955n100 CNV gain 25217958
dgv6958n100 CNV gain+loss 25217958
dgv6959n100 CNV loss 25217958
dgv6960n100 CNV loss 25217958
dgv6961n100 CNV gain+loss 25217958
dgv6962n100 CNV gain 25217958
dgv6963n100 CNV loss 25217958
dgv6964n100 CNV gain 25217958
dgv6965n100 CNV gain+loss 25217958
dgv6966n100 CNV loss 25217958
esv21583 CNV gain+loss 19812545
esv25631 CNV gain+loss 19812545
esv2752265 CNV gain 17911159
esv2752266 CNV loss 17911159
esv2759589 CNV gain+loss 17122850
esv2761169 CNV gain+loss 21179565
esv2764098 CNV gain+loss 21179565
esv33606 CNV gain+loss 17666407
esv3584574 CNV gain 24956385
esv3584575 CNV gain 24956385
esv3584577 CNV gain 24956385
esv3616114 CNV loss 21293372
esv3891318 CNV gain 25118596
esv3891321 CNV gain+loss 25118596
esv3891323 CNV gain+loss 25118596
esv3891324 CNV gain 25118596
esv3891325 CNV gain 25118596
esv992071 CNV gain 20482838
esv996398 CNV gain 20482838
nsv1015218 CNV gain 25217958
nsv1017081 CNV gain 25217958
nsv1026778 CNV gain 25217958
nsv1027507 CNV loss 25217958
nsv1027709 CNV gain+loss 25217958
nsv1028208 CNV loss 25217958
nsv1029830 CNV gain 25217958
nsv1030619 CNV loss 25217958
nsv1031322 CNV loss 25217958
nsv1031577 CNV gain 25217958
nsv1032072 CNV gain 25217958
nsv1139926 CNV duplication 24896259
nsv1141572 CNV duplication 24896259
nsv428194 CNV gain+loss 18775914
nsv433398 CNV gain 18776910
nsv442397 CNV gain 18776908
nsv469521 CNV gain+loss 16826518
nsv471650 CNV gain+loss 15918152
nsv508496 CNV deletion 20534489
nsv510977 OTHER complex 20534489
nsv515100 CNV gain 21397061
nsv515968 CNV gain+loss 19592680
nsv610044 CNV gain 21841781
nsv610065 CNV gain+loss 21841781
nsv610077 CNV gain 21841781
nsv610102 CNV gain+loss 21841781
nsv610113 CNV loss 21841781
nsv610116 CNV loss 21841781
nsv610119 CNV gain+loss 21841781
nsv821656 CNV gain 15273396
nsv824519 CNV loss 20364138
nsv824521 CNV gain 20364138
nsv824524 CNV gain+loss 20364138
nsv8281 CNV gain+loss 18304495
nsv951092 CNV deletion 24416366
nsv951093 CNV deletion 24416366
nsv967555 CNV duplication 23825009
nsv967558 CNV duplication 23825009

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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
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 22 46 64
  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 22 64
  3. Analysis of beta-defensin and Toll-like receptor gene copy number variation in celiac disease. (PMID: 20483368) Fernandez-Jimenez N. … Bilbao J.R. (Hum. Immunol. 2010) 3 46 64
  4. Copy number variation of defensin genes and HIV infection in Brazilian children. (PMID: 19194307) Milanese M. … Crovella S. (J. Acquir. Immune Defic. Syndr. 2009) 3 46 64
  5. 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) 3 4 64

Products for DEFB104A Gene

Sources for DEFB104A Gene

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