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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

DEFB109P1B Gene

pseudogene   GIFtS: 28
GCID: GC08P007158

defensin, beta 109, pseudogene 1B

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Defensin, Beta 109, Pseudogene 1B1 2
DEFB1092 3
DEF109P1B2
DEFB109A3
Defensin, Beta 1093
Defensin, Beta 109, Pseudogene 1/1B3

External Ids:    HGNC: 334691   Entrez Gene: 6415172   Ensembl: ENSG000002060347   UniProtKB: Q30KR13   
ORGUL members:         
NONCODE:n385338    

Export aliases for DEFB109P1B gene to outside databases


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: DB109_HUMAN, Q30KR1
Function: Has antibacterial activity (By similarity)




(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000008.10  NT_023736.17  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for DEFB109P1B
         Other transcription factors

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Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DEFB109P1B


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

DEFB109P1B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DEFB109P1B gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08P007158:  view genomic region     (about GC identifiers)

Start:
7,170,368 bp from pter      End:
7,177,473 bp from pter
Size:
7,106 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: DB109_HUMAN, Q30KR1 (See protein sequence)
Recommended Name: Beta-defensin 109 precursor  
Size: 87 amino acids; 9886 Da
Subcellular location: Secreted (By similarity)

Explore the universe of human proteins at neXtProt for DEFB109P1B: NX_Q30KR1

DEFB109P1B Protein expression data from MOPED and PaxDb: --

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

DEFB109P1B for domains           About GeneDecksing

2 InterPro domains/families:
 IPR025933 Beta_defensin
 IPR006080 Defensin_beta/neutrophil

Graphical View of Domain Structure for InterPro Entry Q30KR1

ProtoNet protein and cluster: Q30KR1

1 Blocks protein family: IPB001855 Beta defensin

UniProtKB/Swiss-Prot: DB109_HUMAN, Q30KR1
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,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

     UniProtKB/Swiss-Prot Summary: DB109_HUMAN, Q30KR1
Function: Has antibacterial activity (By similarity)

Animal Models:

   inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for DEFB109P1B 

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(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
About This Section



Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DEFB109P1B

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section
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(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 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,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for DEFB109P1B gene: 
NM_001037380.1  

Unigene Cluster for DEFB109P1B:

Defensin, beta 109, pseudogene 1B
Hs.616079
Unigene Representative Sequence: BG213170
1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000382656(uc003wre.4)

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Additional cDNA sequence: 

DQ012013.1 NR_003668.2 

2 DOTS entries:

DT.120629685  DT.121480108 

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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

DEFB109P1B expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TCAGATTATC
DEFB109P1B Expression
About this image
SOURCE GeneReport for Unigene cluster: Hs.616079
    SABiosciences Custom PCR Arrays for DEFB109P1B

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In Situ
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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)
About This Section
  --

ENSEMBL Gene Tree for DEFB109P1B (if available)
TreeFam Gene Tree for DEFB109P1B (if available) 

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

(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

10/46 NCBI SNPs in DEFB109P1B are shown (see all 46    About this table
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 8 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1832079231,2
--7169619(+) GGTGGA/GGGGGG 2 -- us2k1 int10--------
rs1869621931,2
--7169842(+) GTTAAA/GAGGGT 2 -- int1 us2k10--------
rs1909908511,2
--7170772(+) GCGGGA/GCATGG 2 -- int10--------
rs1831384421,2
--7171147(+) AAATGA/GGTAAC 2 -- int10--------
rs1881717651,2
--7171205(+) ATTTTC/GGGGGC 2 -- int10--------
rs1926066481,2
--7171217(+) TTTGGA/GAAAAA 2 -- int10--------
rs1843935941,2
--7171260(+) GGAAAA/CTTATA 2 -- int10--------
rs715092841,2
C--7172824(+) CACGAG/AGTCAG 2 -- int11Minor allele frequency- A:0.50NA 2
rs1925084181,2
--7172878(+) TAGCCA/GGGTGC 2 -- int10--------
rs1846975101,2
--7172880(+) GCCGGC/GTGCGG 2 -- int10--------

HapMap Linkage Disequilibrium report for DEFB109P1B (7170368 - 7177473 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 42 variations for DEFB109P1B
     15/34 CNVs (see all 34): 70259 38725 8593 34519 4579 70263 7702 82462 95202 0733 0296 32996 95224 2118 82443
     8 Inversions: 37309 37307 37308 37304 37305 37306 37310 37303

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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.)
About This Section
  --

(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)
About This Section

PubMed articles for DEFB109P1B gene integrated from 9 sources:
(articles sorted by number of sources associating them with DEFB109P1B)
    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 Patil A.A.... Zhang G. (2005)
  2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section
 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)
About This Section
Entrez Gene: 641517 HGNC: 33469 Ensembl:ENSG00000206034 euGenes: HUgn641517 ECgene: DEFB109P1B
H-InvDB: DEFB109P1B

(According to HUGE)
About This Section
  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
  --

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
About This Section
Patent Information for DEFB109P1B gene:
Search GeneIP for patents involving DEFB109P1B

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



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