DEFA6 Gene

Aliases
for DEFA6 gene

(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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Previous GC identifers: GC08M006846 GC08M007036 GC08M006942 GC08M006562

Summaries
for DEFA6 gene

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:

NC_000008.10  NC_018919.2  NT_023736.18  

SwitchGear Promoter luciferase reporter plasmid: DEFA6 promoter sequence

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DEFA6

DEFA6 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)

Proteins
for DEFA6 gene

(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, Cloud-Clone Corp., eBioscience, antibodies-online, and/or GeneTex,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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

Explore proteomics data for DEFA6 at MOPED


See DEFA6 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

DEFA6 Human Recombinant Protein Products:

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	OriGene Purified Protein for DEFA6 OriGene Protein Over-expression Lysate for DEFA6 OriGene MassSpec for DEFA6 OriGene Custom Protein Services for DEFA6
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	Novus Biologicals DEFA6 Protein Novus Biologicals DEFA6 Lysates
	Browse Sino Biological Recombinant Proteins Browse Sino Biological Cell Lysates
	Browse ProSpec Recombinant Proteins
	Browse Proteins at Cloud-Clone Corp.
	Search eBioscience for Proteins for DEFA6
	Search GeneTex for Proteins for DEFA6
	antibodies-online proteins for DEFA6 (2 products)
	Search antibodies-online for peptides for DEFA6

DEFA6 Antibody Products:

	Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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	Browse OriGene Antibodies OriGene Custom Antibody Services for DEFA6
	Novus Biologicals DEFA6 Antibodies
	Abcam antibodies for DEFA6
	Browse Antibodies at Cloud-Clone Corp.
	Search ThermoFisher Antibodies for DEFA6
	antibodies-online antibodies for DEFA6 (21 products)

DEFA6 Assay Products:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Assay Services for DEFA6
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for DEFA6
	Browse Enzo Life Sciences for kits & assays
	Browse ELISAs at Cloud-Clone Corp. Browse CLIAs at Cloud-Clone Corp.
	Search eBioscience for ELISAs for DEFA6
	antibodies-online kits for DEFA6 (6 products)

Domains /
Families
for DEFA6 gene

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GenesLikeMe)
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ProtoNet protein and cluster: Q01524

Find genes that share domains with DEFA6           About GenesLikeMe

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, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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Localization
for DEFA6 gene

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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Subcellular locations from COMPARTMENTS: 

Compartment	Confidence
extracellular	5
golgi apparatus	4
nucleus	1

About this image

Gene Ontology (GO): 3 cellular component terms:    About this table

Pathways & Interactions
for DEFA6 gene

(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 GenesLikeMe, 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, Sets of similar genes according to GenesLikeMe)
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SuperPaths for DEFA6 About     See pathways by source

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	SuperPath	Contained pathways About
1	Defensins	Defensins 0.80 Alpha-defensins 0.00

2 Reactome Pathways for DEFA6

	Defensins
	Alpha-defensins

Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

Drugs & Compounds
for DEFA6 gene

(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, Sets of similar genes according to GenesLikeMe)
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Transcripts
for DEFA6 gene

(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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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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 GenesLikeMe, 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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DEFA6 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: GGTATTAACC

About this image

Primer Products:		OriGene qPCR primer pairs and template standards for DEFA6 OriGene qSTAR qPCR primer pairs in human, mouse for DEFA6
		Pre-validated RT2 qPCR Primer Assay in human, mouse / rat DEFA6
		QuantiTect SYBR Green Assays in human, mouse, rat DEFA6
		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)
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Paralogs
for DEFA6 gene

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68,Sets of similar genes according to GenesLikeMe)
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Paralogs for DEFA6 gene

DEFA1B²  DEFA3²  DEFA4²  DEFA1²  DEFA5²  

6 SIMAP similar genes for DEFA6 using alignment to 1 protein entry:     DEF6_HUMAN:

DEFA4    DEFA5    DEFA1    DEFA1B    DEFA3    Em

Find genes that share paralogs with DEFA6           About GenesLikeMe


1 Pseudogenes.org Pseudogene for DEFA6
PGOHUM00000249207

Genomic Variants
for DEFA6 gene

(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 DEFA6 (see all 158)    About this table

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
-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	--	--	--	-1st2nd3rd	--	--	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd
rs1930669991,2		--	6781757(+)	ACGTGC/TGGTGG	1	--	ds5001		0	--	--	--	--
rs1846335021,2		--	6781758(+)	CGTGCA/GGTGGC	1	--	ds5001		0	--	--	--	--
rs1891492331,2		--	6781827(+)	GAGTTC/TGAGAC	1	--	ds5001		0	--	--	--	--
rs1813778131,2		--	6781899(+)	TGGTGC/GATACC	1	--	ds5001		0	--	--	--	--
rs1855433471,2		--	6781937(+)	GGCAGA/GAGAAT	1	--	ds5001		0	--	--	--	--
rs38881521,2	C,F,A,H	--	6781962(+)	AGGTAA/GAGGTT	1	--	ds5001		6		NA WA	18
rs1460000571,2		--	6782201(+)	GAAAAC/GCACAA	1	--	ds5001		0	--	--	--	--
rs1162365991,2	C,F	--	6782204(+)	AAGCAC/GAAACA	1	--	ds5001		0	--	--	--	--
rs7122761,2	C,F,O,A,H	--	6782271(-)	TGTCCT/CATACA	1	--	ut31 ese3		38		MN NS EA NA CSA WA	4124
rs562399091,2	C,F	--	6782279(-)	CTGTCG/ATGTGT	1	--	ut31		3		CSA WA	122

HapMap Linkage Disequilibrium report for DEFA6 (6782215 - 6783598 bp)

Structural Variations
     Database of Genomic Variants (DGV) Selected variations for DEFA6 (see all 14):    About this table    

Variant ID	Type	Subtype	PubMed ID
nsv509248	CNV	Insertion	20534489
nsv890064	CNV	Gain	21882294
nsv465436	CNV	Gain	19166990
nsv831221	CNV	Gain	17160897
nsv528374	CNV	Gain	19592680
esv2752262	CNV	Gain	17911159
nsv890066	CNV	Gain	21882294
nsv465437	CNV	Gain	19166990
dgv7656n71	CNV	Gain	21882294
dgv7657n71	CNV	Gain	21882294

Site Specific Mutation Identification with PCR Assays

SeqTarget long-range PCR primers for resequencing DEFA6

DNA2.0 Custom Variant and Variant Library Synthesis for DEFA6

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, Sets of similar genes according to GenesLikeMe)
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1 disease for DEFA6

1 Novoseek inferred disease relationship for DEFA6 gene    About this table

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)
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1. 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. (FEBS Lett. 1993)
2. Human enteric defensins. Gene structure and developmental expression. (PubMed id 8626737)^{1, 2, 9} Mallow E.B.... Bevins C.L. (J. Biol. Chem. 1996)
3. Crystal structures of human alpha-defensins HNP4, HD5, and HD6. (PubMed id 17088326)^{1, 2, 9} Szyk A.... Lubkowski J. (Protein Sci. 2006)
4. Risk of meningioma and common variation in genes related to innate immunity. (PubMed id 20406964)^{1, 4} Rajaraman P....Inskip P.D. (amp 2010)
5. Polymorphisms in innate immunity genes and risk of childhood leukemia. (PubMed id 20438785)^{1, 4} Han S....Kang D. (Hum. Immunol. 2010)
6. Copy number variation of defensin genes and HIV infection in Brazilian children. (PubMed id 19194307)^{1, 4} Milanese M....Crovella S. (J. Acquir. Immune Defic. Syndr. 2009)
7. Single nucleotide polymorphisms and the haplotype in the DEFB1 gene are associated with atopic dermatitis in a Korean population. (PubMed id 19135873)^{1, 4} Kim E....Yang J.M. (J. Dermatol. Sci. 2009)
8. Antibacterial activity and specificity of the six human alpha- defensins. (PubMed id 15616305)^{1, 2} Ericksen B.... Lehrer R.I. (Antimicrob. Agents Chemother. 2005)
9. 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. (Genome Res. 2004)
10. Innate immunity and non-Hodgkin's lymphoma (NHL) related genes in a nested case-control study for gastric cancer risk. (PubMed id 23028900)¹ Park S.K....Kang D. (PLoS ONE 2012)

External Searches for DEFA6 gene

Genome Databases showing DEFA6 gene

Other Databases showing DEFA6 gene

Specialized Databases showing DEFA6 gene

Products
for DEFA6 gene

(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, eBioscience, antibodies-online, GeneTex, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from genOway)
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