DEFA6 Gene
protein-coding GIFtS: 53
GCID: GC08M006769
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defensin, alpha 6, Paneth cell-specific
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Aliases
for DEFA6 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Defensin, Alpha 6, Paneth Cell-Specific1 2 | | DEF61 2 3 5 | | HD-61 2 | | Defensin 62 | | Defensin-61 | | Defensin, Alpha 63 |
Export aliases for DEFA6 gene to outside databasesPrevious GC identifers: GC08M006846 GC08M007036 GC08M006942 GC08M006562 |
Summaries
for DEFA6 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 DEFA6:
Defensins are a family of microbicidal and cytotoxic peptides thought to be involved in host defense. They are abundantin the granules of neutrophils and also found in the epithelia of mucosal surfaces such as those of the intestine,respiratory tract, urinary tract, and vagina. Members of the defensin family are highly similar in protein sequenceand distinguished by a conserved cysteine motif. Several alpha defensin genes appear to be clustered on chromosome 8.The protein encoded by this gene, defensin, alpha 6, is highly expressed in the secretory granules of Paneth cells ofthe small intestine, and likely plays a role in host defense of human bowel. (provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: DEF6_HUMAN, Q01524Function: Has very low antimicrobial activity against Gram-negative and Gram-positive bacteria. May protect cellsagainst infection with HIV-1
Gene Wiki entry for DEFA6
|
Genomic Views
for DEFA6 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 DEFA6 gene promoter:
TBP AREB6 Nkx2-5 POU3F2 (N-Oct-5b) POU3F2 (N-Oct-5a) POU3F2 C/EBPalpha
Other transcription factors
Search SABiosciences Chromatin IP Primers for DEFA6
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DEFA6 |
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: 8p23.1DEFA6 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 GC08M006769: view genomic region
(about GC identifiers)
Start:
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6,782,215 bp from pter |
End:
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6,783,598 bp from pter |
Size:
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1,384 bases |
Orientation:
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minus strand |
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Proteins
for DEFA6 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: DEF6_HUMAN, Q01524 (See
protein sequence)Recommended Name: Defensin-6 precursor Size: 100 amino acids; 10975 Da
Subunit: Homodimer
Subcellular location: Secreted
2 PDB 3D structures from  and Proteopedia  for DEFA6:1ZMQ (3D)
3QTE (3D)
Explore the universe of human proteins at neXtProt for DEFA6: NX_Q01524
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q01524
DEFA6 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_001917.1
ENSEMBL proteins: ENSP00000297436 Reactome Protein details: Q01524
Human Recombinant Protein Products:
Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table
DEFA6 for ontologies About GeneDecksing
DEFA6 Antibody Products:
Assay Products for DEFA6: |
Protein
Domains /
Families
for DEFA6 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
DEFA6 for domains About GeneDecksing
4 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q01524ProtoNet protein and cluster: Q01524 1 Blocks protein family: IPB002366 Defensin propeptide
UniProtKB/Swiss-Prot: DEF6_HUMAN, Q01524Similarity: Belongs to the alpha-defensin family |
Function
for DEFA6 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: DEF6_HUMAN, Q01524Function: Has very low antimicrobial activity against Gram-negative and Gram-positive bacteria. May protect cellsagainst infection with HIV-1 Genatlas biochemistry entry for DEFA6:defensin alpha 6,3-4kDa,enteric Paneth cells,released from azurophil granules of Paneth cells,oxygen independentphagocytosis of Gram+,Gram- bacteria,many fungi,some viruses
Clone
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OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DEFA6
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Synthesis Service for DEFA6 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DEFA6 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DEFA6 |
|
Pathways & Interactions
for DEFA6 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
|
Unified GeneCards pathways About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Alpha-defensins | | | 2 | Immune System | | | 3 | Beta defensins | |
Pathway sources
See GeneCards unified pathways
Show all pathways
5/6 
Reactome Pathways for DEFA6 (see all 6)
DEFA6 for pathways About GeneDecksing
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DEFA6
STRING Interaction
Network Preview (showing 4 interactants - click image to see more details)
4 Interacting proteins for DEFA6 (ENSP000002974364) via UniProtKB, MINT, STRING, and/or I2DAbout this table
Gene Ontology (GO): 4 biological process terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
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| GO:0031640 | killing of cells of other organism |
IEA | -- | | GO:0042742 | defense response to bacterium |
IEA | -- | | GO:0045087 | innate immune response |
TAS | -- | | GO:0050832 | defense response to fungus |
IEA | -- |
DEFA6 for ontologies About GeneDecksing
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Drugs & Compounds
for DEFA6 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
|
DEFA6 for compounds About GeneDecksing
 Browse Tocris compounds for DEFA6
1 Novoseek chemical compound relationship for DEFA6 gene About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| hbd2 |
91.8 |
4 |
14568394 (2), 19549264 (1), 10964161 (1) |
Search CenterWatch for drugs/clinical trials and news about DEFA6 / DEF6
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Transcripts
for DEFA6 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 DEFA6 gene: NM_001926.3 Unigene Cluster for DEFA6: Defensin, alpha 6, Paneth cell-specific Hs.711 [show with all ESTs]Unigene Representative Sequence: NM_0019261 Ensembl transcript including schematic representation, and UCSC links where relevant: ENST00000297436(uc003wqt.3)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DEFA6
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DEFA6
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: DEFA6 (NM_001926) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for DEFA6 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DEFA6 |
Additional cDNA sequence: BC069667.1 BC069710.1 BC069728.1 BC069769.1 BC093951.1 BC093953.1 M98331.1 2 DOTS entries: DT.102820200 DT.106012 10 AceView cDNA sequences: T29657 BM986901 M98331 BC069769 BC069710 BC069728 NM_001926 BC069667 AW951409 BM855691
GeneLoc Exon Structure
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Expression
for DEFA6 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
| DEFA6 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GGTATTAACC
About this image
See DEFA6 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for DEFA6
SOURCE GeneReport for Unigene cluster: Hs.711
UniProtKB/Swiss-Prot: DEF6_HUMAN, Q01524Tissue specificity: Paneth cells of the small intestine
SABiosciences Custom PCR Arrays for DEFA6
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DEFA6
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse / rat DEFA6 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DEFA6 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DEFA6 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DEFA6 |
Orthologs
for DEFA6 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 DEFA6 (if available)
TreeFam Gene Tree for DEFA6 (if available) |
Paralogs
for DEFA6 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for DEFA6 gene
- DEFA1B2 DEFA32 DEFA42 DEFA12 DEFA52
6 SIMAP similar genes for DEFA6 using alignment to 2 protein entries: DEF6_HUMAN (see all proteins):DEFA4 DEFA5 DEFA1 DEFA1B DEFA3 Em
DEFA6 for paralogs About GeneDecksing
1 Pseudogenes.org Pseudogene for DEFA6
PGOHUM00000249207
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Genomic Variants
for DEFA6 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 DEFA6 (6782215 - 6783598 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 3 variations for DEFA6
3 CNVs: 8592 4577 3719 | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DEFA6 |
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Disorders
/ Diseases
for DEFA6 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
DEFA6 for disorders About GeneDecksing
OMIM gene information: 600471
OMIM disorders: --
17  diseases for DEFA6: About MalaCardsdacryocystitis atopic dermatitis herpes simplex ulcerative colitis
dermatitis crohn's disease colon adenocarcinoma hepatitis b
diarrhea colon carcinoma meningioma influenza
adenocarcinoma adenoma hepatitis carcinoma
leukemia
1 disease from the University of Copenhagen DISEASES database for DEFA6:Crohn's disease 1 Novoseek disease relationship for DEFA6 gene About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| inflammation |
21.5 |
4 |
15479689 (1), 12519391 (1), 19549264 (1), 18810765 (1) |
Human Genome Epidemiology (HuGE) Navigator: DEFA6 (8 documents)
Export disorders for DEFA6 gene to outside databases
|
Publications
for DEFA6 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 DEFA6 gene, integrated from 9 sources (see all 53):
(articles sorted by number of sources associating them with DEFA6) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Defensin-6 mRNA in human Paneth cells: implications for antimicrobial peptides in host defense of the human bowel. (PubMed id 8417977)1, 2, 3, 9 Jones D.E. and Bevins C.L. (1993)
- Human enteric defensins. Gene structure and developmental expression. (PubMed id 8626737)1, 2, 9 Mallow E.B.... Bevins C.L. (1996)
- Crystal structures of human alpha-defensins HNP4, HD5, and HD6. (PubMed id 17088326)1, 2, 9 Szyk A....Lubkowski J. (2006)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- Human a-defensin 6 promotes mucosal innate immunity th rough self-assembled peptide nanonets. (PubMed id 22722251)1 Chu H....Bevins C.L. (2012)
- Efficiency of antimicrobial defense: molecular flexib ility of natural defensin and artificial bis-quaternary ammonium compound. (PubMed id 21873175)1 Ohkura K....Hori H. (2011)
- Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
- Targeting HIV-1 innate immune responses therapeuticall y. (PubMed id 21734566)1 Ellegard R....Larsson M. (2011)
- Human defensins 5 and 6 enhance HIV-1 infectivity thr ough promoting HIV attachment. (PubMed id 21672195)1 Rapista A....Chang T.L. (2011)
- Risk of meningioma and common variation in genes rela ted to innate immunity. (PubMed id 20406964)1 Rajaraman P....Inskip P.D. (2010)
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External Searches for DEFA6 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing DEFA6 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing DEFA6 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing DEFA6 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 DEFA6 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for DEFA6 gene:
Search GeneIP for patents involving DEFA6
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for DEFA6 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
|
 | |
 | |
 |
| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for DEFA6 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for DEFA6 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DEFA6 | | | OriGene Protein Over-expression Lysate for DEFA6 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for DEFA6 | | Browse 3'-UTR reporter clones for miRNA target validation | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DEFA6 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DEFA6 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | OriGene Purified Protein for DEFA6 | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for DEFA6 | | OriGene Custom Protein Services for DEFA6 | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat DEFA6 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DEFA6 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DEFA6 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DEFA6 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DEFA6 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DEFA6 |
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 |  |  |  | |
| | | | Search Tocris compounds for DEFA6 |
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 | | | DEFA6 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DEFA6 |
|  |  |  | | | | Search ThermoFisher Antibodies for DEFA6 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DEFA6 |
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