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DEFB121 Gene

protein-coding   GIFtS: 41
GCID: GC20M029992

Defensin, Beta 121

  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)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for DEFB121 Gene:
DEFB121 (defensin, beta 121) is a protein-coding gene.

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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000020.11  NT_011362.11  NC_018931.2  
Regulatory elements:
   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 Chromatin IP Primers for DEFB121

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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: DB121_HUMAN, Q5J5C9 (See protein sequence)
Recommended Name: Beta-defensin 121 precursor  
Size: 76 amino acids; 8456 Da
Secondary accessions: A1L4N1

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

Explore proteomics data for DEFB121 at MOPED


See DEFB121 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

ENSEMBL proteins: 
 ENSP00000417128  
Reactome Protein details: Q5J5C9

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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 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,
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: DB121_HUMAN, Q5J5C9
Function: Has antibacterial activity (Potential)

     Gene Ontology (GO): 1 molecular function term:    About this table

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


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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
DB121_HUMAN, Q5J5C9: Secreted (Potential)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
extracellular3
mitochondrion1

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

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

DEFB121 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 DEFB121 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 DEFB121
    Defensins
Beta defensins



DEFB121 for pathways           About GeneDecksing

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Interactions:

    Search GeneGlobe Interaction Network for DEFB121

Gene Ontology (GO): 1 biological process term:    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, 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 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,
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 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)
miRNA
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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™, 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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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

DEFB121 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

DEFB121 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.272294
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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 DEFB121 gene from Selected species (see all 2)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
dog
(Canis familiaris)
Mammalia CBD1216
Beta-defensin 121; Uncharacterized protein
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)
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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), 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 DEFB121 (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, 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 DEFB121 gene integrated from 10 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)
  2. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (Nature 2001)
  3. Identification, characterization, and evolution of a primate beta- defensin gene cluster. (PubMed id 15772680)1 Radhakrishnan Y....Hall S.H. (Genes Immun. 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. (Genome Res. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)
  6. (PubMed id )2 
  7. Identification, cloning and functional characterization of novel beta-defensins in the rat (Rattus norvegicus). (PubMed id 16457734)9 Yenugu S....Hall S.H. (amp 2006)

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

(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 DEFB121 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 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



(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, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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