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DEFB112 Gene

protein-coding   GIFtS: 38
GCID: GC06M050014

Defensin, Beta 112

  Search for DEFB112
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 1121 2 3
Beta-Defensin 122 3
DEFB-122 3
Beta-Defensin 1122
Defensin, Beta 122
DEFB123

External Ids:    HGNC: 180931   Entrez Gene: 2459152   Ensembl: ENSG000001808727   UniProtKB: Q30KQ83   

Export aliases for DEFB112 gene to outside databases

Previous GC identifers: GC06U990315 GC06M050007 GC06M050058 GC06M050119 GC06M049742


(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 DEFB112 Gene:
DEFB112 (defensin, beta 112) is a protein-coding gene.

UniProtKB/Swiss-Prot: DB112_HUMAN, Q30KQ8
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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000006.12  NC_018917.2  NT_007592.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the DEFB112 gene promoter:
         Max1   PPAR-gamma1   Sox5   MyoD   PPAR-gamma2   Cdc5   ITF-2   Tal-1beta   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDEFB112 promoter sequence
   Search Chromatin IP Primers for DEFB112

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DEFB112


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

Entrez Gene cytogenetic band: 6p12.3   Ensembl cytogenetic band:  6p12.3   HGNC cytogenetic band: 6p12.3

DEFB112 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DEFB112 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M050014:  view genomic region     (about GC identifiers)

Start:
50,011,288 bp from pter      End:
50,016,364 bp from pter
Size:
5,077 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, 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: DB112_HUMAN, Q30KQ8 (See protein sequence)
Recommended Name: Beta-defensin 112 precursor  
Size: 113 amino acids; 12991 Da
Secondary accessions: Q8NET0

Explore the universe of human proteins at neXtProt for DEFB112: NX_Q30KQ8

Explore proteomics data for DEFB112 at MOPED


See DEFB112 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_001032587.1  
ENSEMBL proteins: 
 ENSP00000319126  
Reactome Protein details: Q30KQ8

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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 Q30KQ8

ProtoNet protein and cluster: Q30KQ8

UniProtKB/Swiss-Prot: DB112_HUMAN, Q30KQ8
Similarity: Belongs to the beta-defensin family


Find genes that share domains with DEFB112           About GenesLikeMe


(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, 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: DB112_HUMAN, Q30KQ8
Function: Has antibacterial activity (By similarity)

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
DB112_HUMAN, Q30KQ8: Secreted (By similarity)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
cytosol2
extracellular2
nucleus2
plasma membrane1

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

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

Find genes that share ontologies with DEFB112           About GenesLikeMe


(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 DEFB112 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 DEFB112
    Defensins
Beta defensins


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Interactions:

    Search GeneGlobe Interaction Network for DEFB112

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

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

Find genes that share ontologies with DEFB112           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 DEFB112 (DB112)



(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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for DEFB112 gene: 
NM_001037498.1  

Unigene Cluster for DEFB112:

Defensin, beta 112
Hs.571092
Unigene Representative Sequence: DQ012016
1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000322246(uc011dws.2)
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Additional mRNA sequence: DQ012016.1 

1 DOTS entry:

DT.99928013 

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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DEFB112 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: TACAGCGATT
DEFB112 Expression
About this image

DEFB112 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

DEFB112 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.571092
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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 mammals.

Orthologs for DEFB112 gene from Selected species (see all 2)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
cow
(Bos taurus)
Mammalia DEFB1126
defensin, beta 112
43(a)
1 ↔ 1
23(22381968-22387980)


ENSEMBL Gene Tree for DEFB112 (if available)
TreeFam Gene Tree for DEFB112 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for DEFB112 gene
1 SIMAP similar gene for DEFB112 using alignment to 1 protein entry:     DB112_HUMAN:
DEFB110

Find genes that share paralogs with DEFB112           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 DEFB112 (see all 195)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 6 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1884864341,2
C--50010830(+) ATAACC/TAGGAA 1 -- ds50010--------
rs6421411,2
C,F,H--50010893(+) GCAACG/TATTTT 1 -- ds50017Minor allele frequency- T:0.05NS EA CSA WA 527
rs758076441,2
C,F--50010980(+) TCACTA/GATGAC 1 -- ds50011Minor allele frequency- G:0.05WA 118
rs771831501,2
F--50011044(+) CTTAGC/TGGTCC 1 -- ds50011Minor allele frequency- T:0.04NA 120
rs94635671,2
C,F,H--50011106(+) GCTTTG/TTATTC 1 -- ds50018Minor allele frequency- T:0.03NS EA NA WA 918
rs1441149741,2
C--50011191(+) CATTAC/TAGGTA 1 -- ds50010--------
rs1485125941,2
C--50011249(+) GAGGAC/GTTCAT 1 -- ds50010--------
rs6944701,2
C,F,A,H--50011277(+) TTGTGC/GATGGA 1 -- ds500113Minor allele frequency- G:0.13NS EA NA WA CSA 691
rs2017552201,2
--50011291(+) CTTCAA/GTGACG 2 H syn10--------
rs1387343251,2
C,F--50011307(+) CTTTAG/AGGTAC 2 /P /L mis11Minor allele frequency- A:0.00NA 4532

HapMap Linkage Disequilibrium report for DEFB112 (50011288 - 50016364 bp)

Structural Variations
      Database of Genomic Variants (DGV) variations for DEFB112: --
Site Specific Mutation Identification with PCR Assays
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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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Find genes that share disorders with DEFB112           About GenesLikeMe

Genetic Association Database (GAD): DEFB112

Export disorders for DEFB112 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 DEFB112 gene integrated from 10 sources:
(articles sorted by number of sources associating them with DEFB112)
    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, 2, 3 Schutte B.C.... McCray P.B. Jr. (Proc. Natl. Acad. Sci. U.S.A. 2002)
  3. A genome-wide association study of sporadic ALS in a homogenous Irish population. (PubMed id 18057069)4 Cronin S....Hardiman O. (Hum. Mol. Genet. 2008)
  4. Genome-wide association with bone mass and geometry in the Framingham Heart Study. (PubMed id 17903296)4 Kiel D.P....Karasik D. (BMC Med. Genet. 2007)
  5. Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project. (PubMed id 17903300)4 Fox C.S....Atwood L.D. (BMC Med. Genet. 2007)

(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: 245915 HGNC: 18093 Ensembl:ENSG00000180872 euGenes: HUgn245915 ECgene: DEFB112
H-InvDB: DEFB112

(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 DEFB112 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 DEFB112 gene:
Search GeneIP for patents involving DEFB112

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, LSBio, eBioscience, 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 inGenious Targeting Laboratory, genOway)
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The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes      Disease genes      DEFB112 gene at Home site.
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