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DEFB136 Gene

protein-coding   GIFtS: 36
GCID: GC08M011831

Defensin, Beta 136

  Search for DEFB136
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 1361 2 3
DEFB1372
Beta-Defensin 1362
Beta-Defensin 1372

External Ids:    HGNC: 344331   Entrez Gene: 6132102   Ensembl: ENSG000002058847   UniProtKB: Q30KP83   

Export aliases for DEFB136 gene to outside databases

Previous GC identifers: GC00U921670 GC08P011877 GC08M011869 GC08M010762


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for DEFB136 Gene:
DEFB136 (defensin, beta 136) is a protein-coding gene.

UniProtKB/Swiss-Prot: DB136_HUMAN, Q30KP8
Function: Has antibacterial activity (Potential)




(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:
NC_000008.11  NC_018919.2  NT_077531.5  
Regulatory elements:
   Regulatory transcription factor binding sites in the DEFB136 gene promoter:
         GR   SRF   SRF (504 AA)   NF-AT   NF-AT2   Ik-2   NF-AT3   GR-alpha   Ik-1   NF-AT1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDEFB136 promoter sequence
   Search Chromatin IP Primers for DEFB136

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DEFB136


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

DEFB136 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DEFB136 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08M011831:  view genomic region     (about GC identifiers)

Start:
11,831,446 bp from pter      End:
11,832,108 bp from pter
Size:
663 bases      Orientation:
minus 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: DB136_HUMAN, Q30KP8 (See protein sequence)
Recommended Name: Beta-defensin 136 precursor  
Size: 78 amino acids; 8755 Da
Caution: Was termed (Ref.2) DEFB137
Secondary accessions: Q4QY36

Explore the universe of human proteins at neXtProt for DEFB136: NX_Q30KP8

Explore proteomics data for DEFB136 at MOPED


See DEFB136 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_001028190.2  
ENSEMBL proteins: 
 ENSP00000371644  
Reactome Protein details: Q30KP8

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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

ProtoNet protein and cluster: Q30KP8

1 Blocks protein domain: IPB001855 Beta defensin

UniProtKB/Swiss-Prot: DB136_HUMAN, Q30KP8
Similarity: Belongs to the beta-defensin family


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, 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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: DB136_HUMAN, Q30KP8
Function: Has antibacterial activity (Potential)

Animal Models:

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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
DB136_HUMAN, Q30KP8: Secreted (Potential)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
extracellular3

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

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

DEFB136 for ontologies           About GeneDecksing


(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 DEFB136 About    
See pathways by source

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

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways


2 Reactome Pathways for DEFB136
    Defensins
Beta defensins



DEFB136 for pathways           About GeneDecksing

    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for DEFB136
Interactions:

    Search GeneGlobe Interaction Network for DEFB136

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

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

DEFB136 for ontologies           About GeneDecksing



(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 DEFB136 (DB136)



(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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for DEFB136 gene: 
NM_001033018.2  

Unigene Cluster for DEFB136:

Defensin, beta 136
Hs.558285
Unigene Representative Sequence: NM_001033018
1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000382209(uc011kxm.2)
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Additional mRNA sequence: 

AY621333.1 DQ012026.1 

1 DOTS entry:

DT.121480238 

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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DEFB136 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: GGTTCATTAA
DEFB136 Expression
About this image


DEFB136 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 
 Heart (Cardiovascular System)
         Cushion Mesenchymal Cells Endocardium
DEFB136 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

DEFB136 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.558285
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In Situ
Assay Products:
 

 
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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 mouse.

Orthologs for DEFB136 gene from Selected species (see all 3)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Defb425 defensin beta 42   --   14 (33.24 cM) 63046991 


ENSEMBL Gene Tree for DEFB136 (if available)
TreeFam Gene Tree for DEFB136 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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  --

(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 DEFB136 (see all 126)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 8 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1822852311,2
--11830964(+) CCAGGA/CTGGAG 1 -- ds50010--------
rs1869572021,2
--11831074(+) CACACA/CCGGAA 1 -- ds50010--------
rs1117154171,2
C,F--11831078(+) CCCGGA/CAGATT 1 -- ds50014Minor allele frequency- C:0.13WA CSA NA 241
rs1917951291,2
--11831119(+) CATGTC/TGGCCA 1 -- ds50010--------
rs1137948871,2
C,F--11831122(+) GTTGGT/CCAGGC 1 -- ds50012Minor allele frequency- C:0.33WA CSA 3
rs1832538321,2
--11831194(+) ACAGGC/TGGGCA 1 -- ds50010--------
rs1854791551,2
--11831213(+) CCACTC/GCGCCT 1 -- ds50010--------
rs1159476491,2
C,F--11831214(+) CACTGC/TGCCTG 1 -- ds50011Minor allele frequency- T:0.16WA 118
rs1154569591,2
C--11831284(+) ACAGGA/C/GGATGC 1 -- ds50010--------
rs1476135441,2
C--11831423(+) AGTAC-/GTTTGA 1 -- ds50010--------

HapMap Linkage Disequilibrium report for DEFB136 (11831446 - 11832108 bp)

Structural Variations
     Database of Genomic Variants (DGV) Selected variations for DEFB136 (see all 12):    About this table    
Variant IDTypeSubtypePubMed ID
esv2736614CNV Deletion23290073
dgv1269e199CNV Deletion23128226
esv3862CNV Duplication18987735
nsv890369CNV Loss21882294
nsv428195CNV Gain18775914
nsv890366CNV Gain21882294
nsv465468CNV Gain19166990
dgv7704n71CNV Gain21882294
nsv516685CNV Gain+Loss19592680
essv15113CNV CNV17122850

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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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  --

(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 DEFB136 gene integrated from 10 sources:
(articles sorted by number of sources associating them with DEFB136)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Cross-species analysis of the mammalian beta-defensin gene family: presence of syntenic gene clusters and preferential expression in the male reproductive tract. (PubMed id 16033865)1, 2, 3 Patil A.A.... Zhang G. (Physiol. Genomics 2005)
  2. Discovery of five conserved beta-defensin gene clusters using a computational search strategy. (PubMed id 11854508)1 Schutte B.C.... McCray P.B. Jr. (Proc. Natl. Acad. Sci. U.S.A. 2002)

(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: 613210 HGNC: 34433 Ensembl:ENSG00000205884 euGenes: HUgn613210 ECgene: DEFB136
H-InvDB: DEFB136

(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 DEFB136 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 DEFB136 gene:
Search GeneIP for patents involving DEFB136

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



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Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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