DEFB106B Gene
protein-coding GIFtS: 36
GCID: GC08M007340
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defensin, beta 106B
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Aliases
for DEFB106B gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Defensin, Beta 106B1 2 | | Beta-Defensin 1062 | | Beta-Defensin 62 3 | | BD63 | | Defensin, Beta 1062 3 | | DEFB1063 | | BD-62 3 | | DEFB63 | | DEFB-62 3 | | |
Export aliases for DEFB106B gene to outside databasesPrevious GC identifers: GC08U900536 GC08M007329 |
Summaries
for DEFB106B gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for DEFB106B:
Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Defensins are short, processedpeptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins andtheta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions.Chromosome 8p23 contains at least two copies of the duplicated beta-defensin cluster. This duplication results in twoidentical copies of defensin, beta 106, DEFB106A and DEFB106B, in head-to-head orientation. This gene, DEFB106B,represents the more telomeric copy. (provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: D106A_HUMAN, Q8N104Function: Has antibacterial activity
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Genomic Views
for DEFB106B gene
(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 NC_018919.1 NT_023736.17
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the DEFB106B gene promoter:
Pbx1a HSF1 (long) CUTL1 AREB6 S8 POU2F1 POU2F1a Chx10 Cart-1 HSF1short
Other transcription factors
Search SABiosciences Chromatin IP Primers for DEFB106B
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DEFB106B |
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: 8p23.1DEFB106B Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 8 GeneLoc Exon Structure GeneLoc location for GC08M007340: view genomic region
(about GC identifiers)
Start:
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7,340,026 bp from pter |
End:
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7,343,922 bp from pter |
Size:
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3,897 bases |
Orientation:
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minus strand |
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Proteins
for DEFB106B gene
(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: D106A_HUMAN, Q8N104 (See
protein sequence)Recommended Name: Beta-defensin 106 precursor Size: 65 amino acids; 7369 Da
Subcellular location: Secreted
Secondary accessions: Q2NKR0 Q496I8Explore the universe of human proteins at neXtProt for DEFB106B: NX_Q8N104
DEFB106B Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_001035794.1
ENSEMBL proteins: ENSP00000334364 Reactome Protein details: Q8N104
Human Recombinant Protein Products:
Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005576 | extracellular region |
NAS | -- |
DEFB106B for ontologies About GeneDecksing
DEFB106B Antibody Products:
Assay Products for DEFB106B: |
Protein
Domains /
Families
for DEFB106B gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
DEFB106B for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q8N104ProtoNet protein and cluster: Q8N104 UniProtKB/Swiss-Prot: D106A_HUMAN, Q8N104Similarity: Belongs to the beta-defensin family |
Function
for DEFB106B gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
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,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: D106A_HUMAN, Q8N104Function: Has antibacterial activity
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DEFB106B (see all 3)
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|
Pathways & Interactions
for DEFB106B gene
(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
|
Pathway sources
See GeneCards unified pathways
Show all pathways
5/6 
Reactome Pathways for DEFB106B (see all 6)
DEFB106B for pathways About GeneDecksing
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DEFB106B
Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0042742 | defense response to bacterium |
NAS | -- |
DEFB106B for ontologies About GeneDecksing
|
Drugs & Compounds
for DEFB106B gene(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
|
 Browse Tocris compounds for DEFB106B
Search CenterWatch for drugs/clinical trials and news about DEFB106B / D106A
|
Transcripts
for DEFB106B gene(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,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
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 DEFB106B gene: NM_001040704.1 Unigene Cluster for DEFB106B: Defensin, beta 106B Hs.511958 [show with all ESTs]Unigene Representative Sequence: AY1224661 Ensembl transcript including schematic representation, and UCSC links where relevant: ENST00000335479(uc003wro.1)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DEFB106B (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DEFB106B
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: DEFB106B (NM_001040704) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for DEFB106B | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DEFB106B |
Additional cDNA sequence: AB089181.1 AF529417.1 AF540978.1 AY122466.1 BC100844.2 BC100845.2 BC100846.2 BC100847.2 BC110062.1 BC111688.1 2 DOTS entries: DT.100018508 DT.121491104
GeneLoc Exon Structure
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Expression
for DEFB106B gene
(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
| DEFB106B expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CAAGAACAAT
About this image
See DEFB106B Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for DEFB106B
SOURCE GeneReport for Unigene cluster: Hs.511958
UniProtKB/Swiss-Prot: D106A_HUMAN, Q8N104Tissue specificity: Expressed specifically in epididymis and lung
SABiosciences Custom PCR Arrays for DEFB106B
Primer
Products: | | Browse OriGene genome-wide validated SYBR primer pairs
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat DEFB106B | | | Search QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DEFB106B | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DEFB106B |
Orthologs
for DEFB106B gene
(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 DEFB106B (if available)
TreeFam Gene Tree for DEFB106B (if available) |
Paralogs
for DEFB106B gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for DEFB106B gene
- DEFB106A1 2
7 SIMAP similar genes for DEFB106B using alignment to 1 protein entry: D106A_HUMAN:DEFB109P1 DEFB109P1B DEFB108B DEFB108P1 DEFB108P2 DEFB135
DEFB134
DEFB106B for paralogs About GeneDecksing
|
Genomic Variants
for DEFB106B gene(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
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 8 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for DEFB106B (7340026 - 7343922 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 38 variations for DEFB106B
15/30 CNVs (see all 30): 70261 70259 0734 8593 0736 34519 2119 70271 31424 7702 65046 9081 52607 52617 0733
8 Inversions: 37309 37307 37308 37304 37305 37306 37310 37303 | SABiosciences Cancer Mutation PCR Assays |
|
Disorders
/ Diseases
for DEFB106B gene
(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
|
DEFB106B for disorders About GeneDecksing
1  disease for DEFB106B: About MalaCardsintestinal neoplasm
Export disorders for DEFB106B gene to outside databases
|
Publications
for DEFB106B gene (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 DEFB106B gene integrated from 9 sources:
(articles sorted by number of sources associating them with DEFB106B) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Duplication and selection in the evolution of primate beta-defensin genes. (PubMed id 12734011)1, 2 Semple C.A.M.... Dorin J.R. (2003)
- Identification of multiple novel epididymis-specific beta-defensin isoforms in humans and mice. (PubMed id 12193721)1, 2 Yamaguchi Y.... Ouchi Y. (2002)
- Discovery of five conserved beta-defensin gene clusters using a computational search strategy. (PubMed id 11854508)1, 2 Schutte B.C.... McCray P.B. Jr. (2002)
- 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 Patil A.A.... Zhang G. (2005)
- Polymorphic segmental duplications at 8p23.1 challenge the determination of individual defensin gene repertoires and the assembly of a contiguous human reference sequence. (PubMed id 15588320)1 Taudien S....Platzer M. (2004)
- Evidence for duplication of the human defensin gene DEFB4 in chromosomal region 8p22-23 and implications for the analysis of SNP allele distribution. (PubMed id 15727258)1 Boniotto M....Gallagher G. (2004)
- 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)
- ORFeome-based search of airway epithelial cell-specific novel human [beta]-defensin genes. (PubMed id 12600824)2 Kao C.Y....Wu R. (2003)
- Extensive normal copy number variation of a beta-defensin antimicrobial-gene cluster. (PubMed id 12916016)1 Hollox E.J....Barber J.C. (2003)
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External Searches for DEFB106B gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
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Genome Databases showing DEFB106B gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing DEFB106B gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing DEFB106B gene(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
|
| Name | Description |
| PharmGKB entry for DEFB106B | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for DEFB106B gene:
Search GeneIP for patents involving DEFB106B
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for DEFB106B gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
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