Aliases for DEFA6 Gene
Aliases for DEFA6 Gene
External Ids for DEFA6 Gene
- HGNC: 2765
- Entrez Gene: 1671
- Ensembl: ENSG00000164822
- OMIM: 600471
- UniProtKB: Q01524
Previous GeneCards Identifiers for DEFA6 Gene
- GC08M006846
- GC08M007036
- GC08M006942
- GC08M006769
- GC08M006562
Summaries for DEFA6 Gene
-
Defensins are a family of antimicrobial and cytotoxic peptides thought to be involved in host defense. They are abundant in 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 sequence and 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 of the small intestine, and likely plays a role in host defense of human bowel. [provided by RefSeq, Oct 2014]
GeneCards Summary for DEFA6 Gene
DEFA6 (Defensin Alpha 6) is a Protein Coding gene. Among its related pathways are Defensins and Innate Immune System. An important paralog of this gene is DEFA4.
UniProtKB/Swiss-Prot for DEFA6 Gene
-
Has very low antimicrobial activity against Gram-negative and Gram-positive bacteria. May protect cells against infection with HIV-1.
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DEFA6 Gene
Genomics for DEFA6 Gene
GeneHancer (GH) Regulatory Elements for DEFA6 Gene
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH08I006926 | Promoter | 0.5 | EPDnew | 550.8 | 0.0 | -20 | 0.1 | DEFA6 ENSG00000254625 | ||
GH08I006863 | Enhancer | 1.2 | FANTOM5 Ensembl ENCODE | 11.1 | +59.7 | 59691 | 6.1 | MXI1 JUN MAX CEBPB EP300 ZIC2 NR2F2 RFX5 JUND STAT3 | DEFB1 DEFA4 DEFA6 DEFA5 GS1-24F4.2 PIR50120 GC08P006842 | |
GH08I006958 | Enhancer | 0.8 | ENCODE dbSUPER | 12.7 | -32.2 | -32188 | 0.1 | CTCF ZNF654 USF1 KLF17 MAX TRIM22 SIN3A USF2 ZNF2 GLIS2 | DEFA9P ENSG00000254625 DEFA6 DEFA8P | |
GH08I006900 | Enhancer | 0.8 | ENCODE | 12.4 | +24.7 | 24715 | 1.1 | SOX13 TFAP4 FOXA2 SAP130 CEBPG ZNF644 ZSCAN9 RARA TEAD3 SCRT2 | RPL23AP96 DEFB1 DEFA6 DEFA4 | |
GH08I006856 | Enhancer | 0.7 | ENCODE | 11.4 | +69.8 | 69782 | 0.2 | JUN MAX CEBPG BRCA1 RFX5 RCOR1 NFE2 TCF7L2 ZNF189 CEBPB | GS1-24F4.2 DEFB1 DEFA4 DEFA6 PIR50120 GC08P006842 |
- Top Transcription factor binding sites by QIAGEN in the DEFA6 gene promoter:
Regulatory Element Products
Genomic Locations for DEFA6 Gene
- chr8:6,924,693-6,926,076
- (GRCh38/hg38)
- Size:
- 1,384 bases
- Orientation:
- Minus strand
- chr8:6,782,215-6,783,598
- (GRCh37/hg19)
Genomic View for DEFA6 Gene
- Cytogenetic band:
-
- 8p23.1 by Ensembl
- 8p23.1 by Entrez Gene
- 8p23.1 by HGNC


RefSeq DNA sequence for DEFA6 Gene
Proteins for DEFA6 Gene
-
Protein details for DEFA6 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q01524-DEF6_HUMAN
- Recommended name:
- Defensin-6
- Protein Accession:
- Q01524
- Q6EZF9
Protein attributes for DEFA6 Gene
- Size:
- 100 amino acids
- Molecular mass:
- 10975 Da
- Quaternary structure:
-
- Homodimer.
Protein Expression for DEFA6 Gene
Post-translational modifications for DEFA6 Gene
Other Protein References for DEFA6 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
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-
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-
Abcam proteins for DEFA6
Assay Products
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No data available for DME Specific Peptides for DEFA6 Gene
Domains & Families for DEFA6 Gene
Gene Families for DEFA6 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Plasma proteins
- Predicted secreted proteins
Protein Domains for DEFA6 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for DEFA6 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q01524- Family:
-
- Belongs to the alpha-defensin family.
Function for DEFA6 Gene
Molecular function for DEFA6 Gene
- GENATLAS Biochemistry:
- defensin alpha 6,3-4kDa,enteric Paneth cells,released from azurophil granules of Paneth cells,oxygen independent phagocytosis of Gram+,Gram- bacteria,many fungi,some viruses
- UniProtKB/Swiss-Prot Function:
- Has very low antimicrobial activity against Gram-negative and Gram-positive bacteria. May protect cells against infection with HIV-1.
Phenotypes From GWAS Catalog for DEFA6 Gene
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 25416956 |
GO:0042803 | protein homodimerization activity | IDA | 17088326 |
Phenotypes for DEFA6 Gene
- GenomeRNAi human phenotypes for DEFA6:
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-
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
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- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for available DEFA6 gene related products
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-
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Cell Line Products
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No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for DEFA6 Gene
Localization for DEFA6 Gene
Subcellular locations from UniProtKB/Swiss-Prot for DEFA6 Gene
- Secreted.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | TAS | -- |
GO:0005615 | extracellular space | IEA | -- |
GO:0005796 | Golgi lumen | TAS | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for DEFA6 Gene
Pathways & Interactions for DEFA6 Gene
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Defensins |
.83
|
.01
|
2 | Innate Immune System |
.61
|
Pathways by source for DEFA6 Gene
5 Reactome pathways for DEFA6 Gene
Interacting Proteins for DEFA6 Gene
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006952 | defense response | IEA | -- |
GO:0019730 | antimicrobial humoral response | TAS | -- |
GO:0031640 | killing of cells of other organism | IEA | -- |
GO:0042742 | defense response to bacterium | IEA | -- |
GO:0050832 | defense response to fungus | IEA | -- |
No data available for SIGNOR curated interactions for DEFA6 Gene
Transcripts for DEFA6 Gene
mRNA/cDNA for DEFA6 Gene
- (1) REFSEQ mRNAs :
- (7) Additional mRNA sequences :
- (10) Selected AceView cDNA sequences:
- (1) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for DEFA6 Gene
CRISPR Products
-
OriGene CRISPR knockouts for DEFA6
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Inhibitory RNA Products
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Clone Products
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-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for available DEFA6 gene related products
- orf clones - Search results for available DEFA6 gene related products
- Applied Biological Materials Clones for DEFA6
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for DEFA6 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
mRNA differential expression in normal tissues according to GTEx for DEFA6 Gene
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for DEFA6 Gene
NURSA nuclear receptor signaling pathways regulating expression of DEFA6 Gene:
DEFA6SOURCE GeneReport for Unigene cluster for DEFA6 Gene:
Hs.711mRNA Expression by UniProt/SwissProt for DEFA6 Gene:
Q01524-DEF6_HUMANEvidence on tissue expression from TISSUES for DEFA6 Gene
- Intestine(4.7)
- Nervous system(4)
Primer Products
-
OriGene qPCR primer pairs and template standards for DEFA6
-
OriGene qPCR primer pairs for DEFA6
- genomics-online: primer clones - Search results for available DEFA6 gene related products
No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for DEFA6 Gene
Orthologs for DEFA6 Gene
No data available for Orthologs for DEFA6 Gene
Paralogs for DEFA6 Gene
Variants for DEFA6 Gene
SNP ID | Clin | Chr 08 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1000247929 | -- | 6,927,359(-) | T/C | upstream_transcript_variant | |
rs1000575592 | -- | 6,926,391(-) | A/G | upstream_transcript_variant | |
rs1000637597 | -- | 6,927,169(-) | C/T | upstream_transcript_variant | |
rs1001011601 | -- | 6,924,423(-) | C/T | downstream_transcript_variant | |
rs1001070468 | -- | 6,924,614(-) | C/G | downstream_transcript_variant |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv6878n100 | CNV | gain | 25217958 |
esv2752262 | CNV | gain | 17911159 |
esv2759589 | CNV | gain+loss | 17122850 |
esv3576520 | CNV | gain | 25503493 |
nsv1015244 | CNV | gain | 25217958 |
nsv1021684 | CNV | loss | 25217958 |
nsv1031577 | CNV | gain | 25217958 |
nsv428194 | CNV | gain+loss | 18775914 |
nsv465436 | CNV | gain | 19166990 |
nsv465437 | CNV | gain | 19166990 |
nsv509248 | CNV | insertion | 20534489 |
nsv528374 | CNV | gain | 19592680 |
nsv610006 | CNV | gain | 21841781 |
nsv610007 | CNV | gain | 21841781 |
nsv610010 | CNV | gain | 21841781 |
nsv831221 | CNV | gain | 17160897 |
Additional Variant Information for DEFA6 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- DEFA6
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DEFA6 Gene
Disorders for DEFA6 Gene
Additional Disease Information for DEFA6
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No disorders were found for DEFA6 Gene.
No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for DEFA6 Gene
Publications for DEFA6 Gene
- Defensin-6 mRNA in human Paneth cells: implications for antimicrobial peptides in host defense of the human bowel. (PMID: 8417977) Jones DE … Bevins CL (FEBS letters 1993) 2 3 4 22 58
- Crystal structures of human alpha-defensins HNP4, HD5, and HD6. (PMID: 17088326) Szyk A … Lubkowski J (Protein science : a publication of the Protein Society 2006) 3 4 22 58
- Human enteric defensins. Gene structure and developmental expression. (PMID: 8626737) Mallow EB … Bevins CL (The Journal of biological chemistry 1996) 3 4 22 58
- Risk of meningioma and common variation in genes related to innate immunity. (PMID: 20406964) Rajaraman P … Inskip PD (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2010) 3 44 58
- Polymorphisms in innate immunity genes and risk of childhood leukemia. (PMID: 20438785) Han S … Kang D (Human immunology 2010) 3 44 58
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for 31 available DEFA6 Antibodies ranked by validation data
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Sources for DEFA6 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
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- (14) ProtoNet
- (15) Blocks
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- (24) DrugBank
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- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
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- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
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- (58) PubMed
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- (60) TGDB
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- (63) Novus Biologicals
- (64) ProSpec
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- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
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- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
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- (92) COMPARTMENTS
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- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
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- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
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- (148) abm
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- (155) genomics-online
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