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DEFB104A Gene

protein-coding   GIFtS: 49
GCID: GC08P007693

Defensin, Beta 104A

(Previous names: defensin, beta 104)
(Previous symbol: DEFB104)
  See DEFB104A-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Defensin, Beta 104A1 2     DEFB42 3
DEFB1041 2 3     hBD-42 3
Defensin, Beta 1041 3     Beta-Defensin 1042
BD-42 3     Defensin, Beta 42
DEFB-42 3     Beta-Defensin 43

External Ids:    HGNC: 181151   Entrez Gene: 1405962   Ensembl: ENSG000001767827   UniProtKB: Q8WTQ13   

Export aliases for DEFB104A gene to outside databases

Previous GC identifers: GC08M007316 GC08P007732


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for DEFB104A Gene:
Defensins form a family of microbicidal 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, Jul 2008)

GeneCards Summary for DEFB104A Gene:
DEFB104A (defensin, beta 104A) is a protein-coding gene. Diseases associated with DEFB104A include ulcerative colitis. An important paralog of this gene is DEFB104B.

UniProtKB/Swiss-Prot: D104A_HUMAN, Q8WTQ1
Function: Has antimicrobial activity. Synergistic effects with lysozyme and DEFB103

Gene Wiki entry for DEFB104A Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000008.10  NC_018919.2  NT_077531.5  
Regulatory elements:
   Regulatory transcription factor binding sites in the DEFB104A gene promoter:
         C/EBPbeta   Pbx1a   CUTL1   AREB6   POU2F1   POU2F1a   Meis-1a   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDEFB104A promoter sequence
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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DEFB104A


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 8p23.1   Ensembl cytogenetic band:  8p23.1   HGNC cytogenetic band: 8p23.1

DEFB104A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DEFB104A gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08P007693:  view genomic region     (about GC identifiers)

Start:
7,693,993 bp from pter      End:
7,698,764 bp from pter
Size:
4,772 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
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UniProtKB/Swiss-Prot: D104A_HUMAN, Q8WTQ1 (See protein sequence)
Recommended Name: Beta-defensin 104 precursor  
Size: 72 amino acids; 8526 Da
Secondary accessions: Q496I2 Q496I3 Q496I4

Explore the universe of human proteins at neXtProt for DEFB104A: NX_Q8WTQ1

Explore proteomics data for DEFB104A at MOPED


See DEFB104A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_525128.2  
ENSEMBL proteins: 
 ENSP00000320813  
Reactome Protein details: Q8WTQ1

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:
DEFB: Defensins, beta

1 InterPro protein domain:
 IPR025933 Beta_defensin

Graphical View of Domain Structure for InterPro Entry Q8WTQ1

ProtoNet protein and cluster: Q8WTQ1

UniProtKB/Swiss-Prot: D104A_HUMAN, Q8WTQ1
Similarity: Belongs to the beta-defensin family


Find genes that share domains with DEFB104A           About GenesLikeMe


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: D104A_HUMAN, Q8WTQ1
Function: Has antimicrobial activity. Synergistic effects with lysozyme and DEFB103
Induction: Antimicrobial activity is decreased when the sodium chloride concentration is increased

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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
D104A_HUMAN, Q8WTQ1: Secreted
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
extracellular5

Gene Ontology (GO): 1 cellular component term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005576extracellular region ----

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(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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SuperPaths for DEFB104A About    
See pathways by source

SuperPathContained pathways About
1Defensins
Defensins0.80
Beta defensins0.80


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Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways



2 Reactome Pathways for DEFB104A
    Defensins
Beta defensins


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Interactions:

    Search GeneGlobe Interaction Network for DEFB104A

Gene Ontology (GO): 1 biological process term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0042742defense response to bacterium ----

Find genes that share ontologies with DEFB104A           About GenesLikeMe



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Tocris compounds for DEFB104A (D104A)

2 HMDB Compounds for DEFB104A    About this table
CompoundSynonyms CAS #PubMed Ids
ChlorineCl2 (see all 13)16887-00-6--
SodiumSodium (see all 2)7440-23-5--



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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REFSEQ mRNAs for DEFB104A gene: 
NM_080389.2  

Unigene Cluster for DEFB104A:

Defensin, beta 104A
Hs.559507
Unigene Representative Sequence: AJ314834
1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000314265(uc003wrv.3)
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Additional mRNA sequence: 

AJ314834.1 BC100848.1 BC100849.1 BC100850.1 BC100851.1 

2 DOTS entries:

DT.120635691  DT.95175211 

2 AceView cDNA sequences:

AJ314834 NM_080389 

GeneLoc Exon Structure


(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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DEFB104A expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: --
DEFB104A Expression
About this image

DEFB104A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

DEFB104A Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.559507

UniProtKB/Swiss-Prot: D104A_HUMAN, Q8WTQ1
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

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(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of human and chimp.

Orthologs for DEFB104A gene from 1 species (see representative species )    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
chimpanzee
(Pan troglodytes)
Mammalia DEFB1041 defensin, beta 104 100(n)
100(a)
  735929  NM_001113568.1  NP_001107040.1 


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

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for DEFB104A gene
DEFB104B1 2  
4 SIMAP similar genes for DEFB104A using alignment to 1 protein entry:     D104A_HUMAN:
DEFB108B    DEFB108P1    DEFB108P2    DEFB115

Find genes that share paralogs with DEFB104A           About GenesLikeMe



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for DEFB104A (see all 112)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 8 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs43485201,2
C,A--7691997(+) CTTCAA/GAATCC 1 -- us2k10--------
rs97732111,2
C--7692059(+) ATCATC/TAAAAA 1 -- us2k10--------
rs2008238701,2
C--7692161(+) ACGGCA/CTCTAC 1 -- us2k10--------
rs1151391451,2
F--7692382(+) GTTAAT/CTGACA 1 -- us2k11Minor allele frequency- C:0.03WA 118
rs1809102191,2
--7692430(+) CTCTCC/GCCTTC 1 -- us2k10--------
rs761085791,2
C--7692443(+) CTTTTC/TGTTTT 1 -- us2k11Minor allele frequency- T:0.50NA 2
rs2000810891,2
C--7692764(+) CTGGCC/TCCCCT 1 -- us2k10--------
rs1461644621,2
C--7692885(+) CTATTC/TCGTTA 1 -- us2k10--------
rs26805091,2
C--7693037(-) ATAAGC/GTCCCC 1 -- us2k10--------
rs754092021,2
C--7693045(+) TATTCA/GAGAAT 1 -- us2k10--------

HapMap Linkage Disequilibrium report for DEFB104A (7693993 - 7698764 bp)

Structural Variations
     Database of Genomic Variants (DGV) Selected variations for DEFB104A (see all 71):    About this table    
Variant IDTypeSubtypePubMed ID
esv2736558CNV Deletion23290073
dgv26n31CNV Duplication19718026
dgv25n31CNV Duplication19718026
nsv890270CNV Loss21882294
nsv890300CNV Loss21882294
dgv7694n71CNV Loss21882294
dgv7664n71CNV Loss21882294
nsv508496CNV Loss20534489
dgv7680n71CNV Loss21882294
dgv1170n67CNV Loss20364138

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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1 disease for DEFB104A:    
About MalaCards
ulcerative colitis

1 disease from the University of Copenhagen DISEASES database for DEFB104A:
Bacterial vaginosis

Find genes that share disorders with DEFB104A           About GenesLikeMe

Genetic Association Database (GAD): DEFB104A
Human Genome Epidemiology (HuGE) Navigator: DEFB104A (3 documents)

Export disorders for DEFB104A gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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PubMed articles for DEFB104A gene, integrated from 10 sources (see all 34):
(articles sorted by number of sources associating them with DEFB104A)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Distribution of human beta-defensin polymorphisms in various control and cystic fibrosis populations. (PubMed id 15820309)1, 4, 9 Vankeerberghen A....Cuppens H. (Genomics 2005)
  2. Analysis of beta-defensin and Toll-like receptor gene copy number variation in celiac disease. (PubMed id 20483368)1, 4 Fernandez-Jimenez N....Bilbao J.R. (Hum. Immunol. 2010)
  3. Copy number variation of defensin genes and HIV infection in Brazilian children. (PubMed id 19194307)1, 4 Milanese M....Crovella S. (J. Acquir. Immune Defic. Syndr. 2009)
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
  5. Human beta-defensin 4: a novel inducible peptide with a specific salt-sensitive spectrum of antimicrobial activity. (PubMed id 11481241)1, 2 Conejo-Garcia J.-R....Forssmann W.-G. (FASEB J. 2001)
  6. Evidence for duplication of the human defensin gene DEFB4 in chromosomal region 8p22-23 and implications for the analysis of SNP allele distribution. (PubMed id 15727258)1, 9 Boniotto M....Gallagher G. (Genet. Test. 2004)
  7. Low expression of human beta-defensin 1 in duodenum of celiac patients is partially restored by a gluten-free diet. (PubMed id 20128731)1, 9 Intrieri M....Nardone G. (Clin. Chem. Lab. Med. 2010)
  8. Expression of I^-defensin-4 in &quot;an in vivo and ex vivo model&quot; of human osteoarthritic knee meniscus. (PubMed id 21879330)1 Musumeci G....Loreto C. (Knee Surg Sports Traumatol Arthrosc 2012)
  9. 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. (PubMed id 23198942)1 Barrera G.J....Gonzalez J.E. (Bosn J Basic Med Sci 2012)
  10. Copy number variation of I^-defensin genes in BehAset's disease. (PubMed id 21385545)1 Park J.J....Lee E.B. (Clin. Exp. Rheumatol. 2011)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 140596 HGNC: 18115 AceView: DEFB104 Ensembl:ENSG00000176782 euGenes: HUgn140596
ECgene: DEFB104A H-InvDB: DEFB104A

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for DEFB104A Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for DEFB104A gene:
Search GeneIP for patents involving DEFB104A

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from genOway)
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GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

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