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

DEFB121 Gene

protein-coding   GIFtS: 40
GCID: GC20M029992

Defensin, Beta 121

Microbiology & Infectious Diseases Congress
  Search for DEFB121
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Defensin, Beta 1211 2 3     Beta-Defensin 1212
Beta-Defensin 212 3     Defensin, Beta 212
Beta 211     DEFB-213
defensin1     DEFB213
ESC42RELC2     

External Ids:    HGNC: 181011   Entrez Gene: 2459342   Ensembl: ENSG000002045487   UniProtKB: Q5J5C93   

Export aliases for DEFB121 gene to outside databases

Previous GC identifers: GC20U990236 GC20M029456 GC20M026781


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

GeneCards Summary for DEFB121 Gene: 
DEFB121 (defensin, beta 121) is a protein-coding gene. Among its related super-pathways are Defensins and Immune System. GO annotations related to this gene include molecular_function.

UniProtKB/Swiss-Prot: DB121_HUMAN, Q5J5C9
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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000020.10  NT_011362.10  NC_018931.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the DEFB121 gene promoter:
         COUP-TF1   COUP   HNF-4alpha2   HNF-4alpha1   c-Ets-1   PPAR-gamma1   COUP-TF   PPAR-gamma2   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDEFB121 promoter sequence
   Search SABiosciences Chromatin IP Primers for DEFB121

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DEFB121


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

Entrez Gene cytogenetic band: 20q11.1   Ensembl cytogenetic band:  20q11.21   HGNC cytogenetic band: 20q11.1

DEFB121 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DEFB121 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20M029992:  view genomic region     (about GC identifiers)

Start:
29,992,648 bp from pter      End:
30,000,641 bp from pter
Size:
7,994 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: DB121_HUMAN, Q5J5C9 (See protein sequence)
Recommended Name: Beta-defensin 121 precursor  
Size: 76 amino acids; 8456 Da
Subcellular location: Secreted (Potential)
Secondary accessions: A1L4N1

Explore the universe of human proteins at neXtProt for DEFB121: NX_Q5J5C9

Explore proteomics data for DEFB121 at MOPED 

DEFB121 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

DEFB121 Protein Expression

REFSEQ proteins (2 alternative transcripts): 
NP_001011878.1  NP_001165303.1  

ENSEMBL proteins: 
 ENSP00000417128  
Reactome Protein details: Q5J5C9
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Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

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

DEFB121 for ontologies           About GeneDecksing



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

1 InterPro protein domain:
 IPR025933 Beta_defensin

Graphical View of Domain Structure for InterPro Entry Q5J5C9

ProtoNet protein and cluster: Q5J5C9

UniProtKB/Swiss-Prot: DB121_HUMAN, Q5J5C9
Similarity: Belongs to the beta-defensin family


DEFB121 for domains           About GeneDecksing


(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,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, 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, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Molecular Function:

     UniProtKB/Swiss-Prot Summary: DB121_HUMAN, Q5J5C9
Function: Has antibacterial activity (Potential)

     Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0003674molecular_function ND--
     
DEFB121 for ontologies           About GeneDecksing


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(Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
About This Section

SuperPaths for DEFB121 About                                                                                                See pathways by source

SuperPathContained pathways About
1Beta defensins
Defensins0.80
Beta defensins0.80
2Immune System
Immune System0.56
Innate Immune System0.50

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways



4        Reactome Pathways for DEFB121
    Defensins
Beta defensins
Immune System
Innate Immune System



DEFB121 for pathways           About GeneDecksing

Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DEFB121

Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

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

DEFB121 for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section
Browse Small Molecules at EMD Millipore
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Browse Tocris compounds for DEFB121 (DB121)

Search CenterWatch for drugs/clinical trials and news about DEFB121 / DB121

(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,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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About This Section

REFSEQ mRNAs for DEFB121 gene (2 alternative transcripts): 
NM_001011878.2  NM_001171832.1  

Unigene Cluster for DEFB121:

Defensin, beta 121
Hs.272294  [show with all ESTs]
Unigene Representative Sequence: FE192798
2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000376312(uc021wbq.1) ENST00000376314(uc002wvv.2)
Congresses - knowledge worth sharing:  
European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

miRNA
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Inhib. RNA
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Additional mRNA sequence: 

AF479700.1 AY501000.1 BC130607.1 BC130609.1 

1 DOTS entry:

DT.120805194 

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

DEFB121 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: TAAAGAAAGT
DEFB121 Expression
About this image


See DEFB121 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for DEFB121

SOURCE GeneReport for Unigene cluster: Hs.272294
    SABiosciences Custom PCR Arrays for DEFB121
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DEFB121

(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

This gene was present in the common ancestor of mammals.

Orthologs for DEFB121 gene from 1/2 species (see all 2)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
dog
(Canis familiaris)
Mammalia DEFB1216
defensin, beta 121
58(a)
1 ↔ 1
24(20927258-20929346)


ENSEMBL Gene Tree for DEFB121 (if available)
TreeFam Gene Tree for DEFB121 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
Paralogs for DEFB121 gene
7 SIMAP similar genes for DEFB121 using alignment to 1 protein entry:     DB121_HUMAN:
DEFB123    DEFB132    DEFB135    DEFB118    DEFB119    DEFB115
DEFB124

DEFB121 for paralogs           About GeneDecksing



(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) 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

10/219 SNPs in DEFB121 are shown (see all 219)    About this table     
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 20 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1873615311,2
--29992190(+) AGCCAC/TTGCTA 2 -- int10--------
rs20569891,2
C,F,A,H--29992251(-) TTTGAA/TTCAAT 2 -- int127Minor allele frequency- T:0.44NS EA NA WA CSA 2772
rs1499067481,2
--29992273(+) GGTCCA/GCATTC 2 -- int10--------
rs1921322471,2
--29992355(+) GAAATA/GTTTCC 2 -- int10--------
rs114700141,2
C--29992547(+) CACAC-/ACACACA 2 -- int10--------
rs1463368491,2
C--29992741(+) CCAGGC/TTTGTA 4 N S mis11Minor allele frequency- T:0.00NA 4550
rs790126491,2
C--29992765(+) ATTTTG/TGTTTT 4 Q P mis10--------
rs1395892151,2
C,F--29992779(+) GGTACA/GTACTT 4 Y syn12Minor allele frequency- G:0.00NA EU 5873
rs1827563661,2
--29992843(+) TTTCTC/TTACAT 4 K R mis10--------
rs1426174811,2
C--29992847(+) TTTACA/TTGTTG 4 S C mis11Minor allele frequency- T:0.00NA 4550

HapMap Linkage Disequilibrium report for DEFB121 (29992648 - 30000641 bp)

Structural Variations
     Database of Genomic Variants (DGV) 3 variations for DEFB121:    About this table     
Variant IDTypeSubtypePubMed ID
nsv458961CNV Gain19166990
nsv912835CNV Gain21882294
nsv470546CNV Gain18288195

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, 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 DEFB121 gene integrated from 9 sources:
(articles sorted by number of sources associating them with DEFB121)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Discovery of five conserved beta-defensin gene clusters using a computational search strategy. (PubMed id 11854508)1, 3 Schutte B.C.... McCray P.B. Jr. (2002)
  2. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (2001)
  3. Identification, characterization, and evolution of a primate beta-defensin gene cluster. (PubMed id 15772680)1 Radhakrishnan Y....Hall S.H. (2005)
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
  5. 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)
  6. Hepatitis C virus core protein interacts with 14-3-3 protein and activates the kinase Raf-1. (PubMed id )2 Aoki H.... Hino O. (2000)
  7. Identification, cloning and functional characterization of novel beta-defensins in the rat (Rattus norvegicus). (PubMed id 16457734)9 Yenugu S....Hall S.H. (2006)

(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: 245934 HGNC: 18101 Ensembl:ENSG00000204548 euGenes: HUgn245934 ECgene: DEFB121
H-InvDB: DEFB121

(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
NameDescription
PharmGKB entry for DEFB121 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
About This Section
Patent Information for DEFB121 gene:
Search GeneIP for patents involving DEFB121

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



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About This Section

 
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 Search LifeMap BioReagents cell lines for DEFB121
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 Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DEFB121
 Browse SwitchGear 3'UTR luciferase reporter plasmids for DEFB121
 SwitchGear Promoter luciferase reporter plasmids for DEFB121
 Search ThermoFisher Antibodies for DEFB121
 Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DEFB121
 inGenious Targeting Laboratory - Custom generated mouse model solutions for DEFB121
 inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for DEFB121
Customized:
 lentivirus for stable overexpression of DEFB121
 lentivirus expression plasmids for stable overexpression of DEFB121
 adenovirus for overexpression of DEFB121
 Search LSBio for Antibodies for DEFB121
Customized transgenic rodents for:
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GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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transforming growth factor, beta 1
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