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
Regulatory Elements for DEFA6 Gene
Enhancers for DEFA6 Gene
| GeneHancer Identifier | Enhancer Score | Enhancer Sources | Gene-Enhancer Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites within enhancer | Gene Targets for Enhancer |
|---|---|---|---|---|---|---|---|---|
| GH08G006863 | 1.4 | FANTOM5 Ensembl ENCODE | 11.1 | +59.7 | 59691 | 6.1 | GTF2F1 TBP MXI1 JUN MAX NSD2 ZIC2 RFX5 ZNF316 POLR2A | DEFB1 DEFA4 DEFA6 DEFA5 GS1-24F4.2 GC08P006842 PIR50120 |
| GH08G006958 | 0.9 | ENCODE dbSUPER | 12.7 | -32.2 | -32188 | 0.1 | ZNF263 CTCF ZNF654 USF1 TRIM22 KLF17 MAX RBBP5 ZNF2 RAD21 | ENSG00000254625 DEFA6 DEFA9P DEFA8P |
| GH08G006900 | 0.8 | ENCODE | 12.4 | +24.7 | 24716 | 1.1 | SOX13 TFAP4 FOXA2 SAP130 CEBPG ZNF644 ZSCAN9 RARA TEAD3 SCRT2 | DEFB1 DEFA6 DEFA4 RPL23AP96 |
| GH08G006856 | 0.7 | ENCODE | 11.4 | +69.8 | 69783 | 0.2 | JUN MAX CEBPB CEBPG EP300 BRCA1 RFX5 MAFF JUND STAT3 | GS1-24F4.2 DEFB1 DEFA4 DEFA6 GC08P006842 PIR50120 |
| GH08G006873 | 0.7 | ENCODE | 11.1 | +52.0 | 52005 | 1.7 | HDGF CHAMP1 EED SCRT2 ETV6 RELB FOS IKZF2 ZNF362 MTA2 | DEFB1 DEFA6 GC08P006842 PIR50120 |
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around DEFA6 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the DEFA6 gene promoter:
Regulatory Element Products
Genomic Location for DEFA6 Gene
- Chromosome:
- 8
- Start:
- 6,924,693 bp from pter
- End:
- 6,926,076 bp from pter
- Size:
- 1,384 bases
- Orientation:
- Minus strand
Genomic View for DEFA6 Gene
Genes around DEFA6 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 8p23.1 by Ensembl
- 8p23.1 by Entrez Gene
- 8p23.1 by HGNC
DEFA6 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
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
-
Custom Antibody ServicesOriGene Antibodies for DEFA6
- Novus Biologicals Antibodies for DEFA6
-
Cloud-Clone Corp. Antibodies for DEFA6
- Invitrogen Antibodies for DEFA6
- antibodies-online Antibodies for DEFA6: See all 31
- GeneTex DEFA6 antibody for DEFA6
Protein Products
-
OriGene Purified Proteins for DEFA6
- Search Origene for MassSpec and Protein Over-expression Lysates for DEFA6
- Origene Custom Protein Services for DEFA6
-
Cloud-Clone Corp. Proteins for DEFA6
- antibodies-online Proteins for DEFA6: See all 3
- Search antibodies-online for peptides
- Search GeneTex for Proteins for DEFA6
No data available for DME Specific Peptides for DEFA6 Gene
Domains & Families for DEFA6 Gene
Gene Families for DEFA6 Gene
- HGNC:
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.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 25416956 |
Phenotypes for DEFA6 Gene
- GenomeRNAi human phenotypes for DEFA6:
Animal Model Products
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- Cyagen custom Knockout/knockin (KOKI) mouse models for DEFA6
-
-
ViGene Biosciences lentiviral particle packaged cDNA for DEFA6 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for DEFA6 gene
- Search ViGene Biosciences for DEFA6
CRISPR Products
-
OriGene CRISPR knockouts for DEFA6
-
Santa Cruz Biotechnology (SCBT) CRISPR for DEFA6
- GenScript: Design CRISPR guide RNA sequences for DEFA6
miRNA Products
- Search ViGene Biosciences for DEFA6
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for DEFA6
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-
ViGene Biosciences ready-to-package AAV shRNAs for DEFA6 gene
Clone Products
-
OriGene ORF clones in human for DEFA6
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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
Cell Line Products
-
Horizon Cell Lines for DEFA6
-
ViGene Biosciences adenoviral particle packaged cDNA for DEFA6 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for DEFA6 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for DEFA6 gene
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.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| golgi apparatus | 4 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005576 | extracellular region | TAS | -- |
| GO:0005615 | extracellular space | IEA | -- |
| GO:0005796 | Golgi lumen | TAS | -- |
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
Selected Interacting proteins:
Q01524-DEF6_HUMAN
ENSP00000297436
for DEFA6 Gene via
IID
UniProtKB
STRING
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006952 | defense response | IEA | -- |
| GO:0019730 | antimicrobial humoral response | TAS | -- |
| GO:0019731 | antibacterial humoral response | IDA | -- |
| GO:0031640 | killing of cells of other organism | IEA | -- |
| GO:0042742 | defense response to bacterium | 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
-
Santa Cruz Biotechnology (SCBT) CRISPR for DEFA6
- GenScript: Design CRISPR guide RNA sequences for DEFA6
miRNA Products
- Search ViGene Biosciences for DEFA6
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for DEFA6
- Browse OriGene Inhibitory RNA Products For DEFA6
-
ViGene Biosciences ready-to-package AAV shRNAs for DEFA6 gene
Clone Products
-
OriGene ORF clones in human for DEFA6
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for DEFA6
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for DEFA6
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for DEFA6
-
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
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
This gene is overexpressed in Small Intestine - Terminal Ileum (x52.9).
This gene is overexpressed in Fetal gut (55.3) and Prostate (13.7).
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_HUMAN
Tissue specificity:
Paneth cells of the small intestine.
Evidence 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
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 | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs1000247929 | -- | 6,927,359(+) | TTGGG(C/T)TCTTT | upstream-variant-2KB | |
| rs1000575592 | -- | 6,926,391(+) | GAATC(A/G)AATGC | upstream-variant-2KB | |
| rs1000637597 | -- | 6,927,169(+) | ATTGT(C/T)AAAAG | upstream-variant-2KB | |
| rs1001011601 | -- | 6,924,423(+) | AATCA(C/T)TTGAA | downstream-variant-500B | |
| rs1001070468 | -- | 6,924,614(+) | GTGTT(C/G)TGAGA | downstream-variant-500B |
| 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 |
Residual Variation Intolerance Score:
44.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
2.58;
44.82% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links 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
Relevant External Links for DEFA6
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 D.E. … Bevins C.L. (FEBS Lett. 1993) 2 3 4 22 64
- Crystal structures of human alpha-defensins HNP4, HD5, and HD6. (PMID: 17088326) Szyk A. … Lubkowski J. (Protein Sci. 2006) 3 4 22 64
- Human enteric defensins. Gene structure and developmental expression. (PMID: 8626737) Mallow E.B. … Bevins C.L. (J. Biol. Chem. 1996) 3 4 22 64
- Risk of meningioma and common variation in genes related to innate immunity. (PMID: 20406964) Rajaraman P. … Inskip P.D. (Cancer Epidemiol. Biomarkers Prev. 2010) 3 46 64
- Polymorphisms in innate immunity genes and risk of childhood leukemia. (PMID: 20438785) Han S. … Kang D. (Hum. Immunol. 2010) 3 46 64
Products for DEFA6 Gene
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- Browse R&D Systems for biochemical assays
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- Custom Antibody ServicesOriGene Antibodies for DEFA6
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- OriGene qPCR primer pairs and template standards for DEFA6
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- Novus Biologicals Antibodies for DEFA6
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- antibodies-online Antibodies for DEFA6: See all 31
- antibodies-online Kits for DEFA6: See all 6
- antibodies-online Proteins for DEFA6: See all 3
- Search antibodies-online for peptides
- GeneTex DEFA6 antibody for DEFA6
- Search GeneTex for Proteins for DEFA6
- ViGene Biosciences adenoviral particle packaged cDNA for DEFA6 gene
- ViGene Biosciences lentiviral particle packaged cDNA for DEFA6 gene
- ViGene Biosciences ready-to-package AAV shRNAs for DEFA6 gene
- Search ViGene Biosciences for DEFA6
- Horizon Cell Lines for DEFA6
- Cyagen custom Knockout/knockin (KOKI) mouse models for DEFA6
- VectorBuilder custom plasmid, inducible vectors for DEFA6
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for DEFA6
- 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
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
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
- (102) PaxDb
- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
- (108) SwitchGear Genomics
- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
- (112) GeneTex
- (113) Taconic Biosciences
- (114) GTEx
- (115) ProteomicsDB
- (116) SCBT
- (117) DGIdb
- (118) ClinicalTrials
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- (122) diseasecard
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- (133) NCBI Bookshelf
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- (135) Gene Damage Index
- (136) ViGene Biosciences
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- (140) FANTOM5
- (141) ENCODE
- (142) ProSci
- (143) Horizon
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- (145) IID
- (146) Cyagen
- (147) VectorBuilder
- (148) SNPedia
- (149) BRCA Exchange
- (150) St John's Lab
- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer