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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

DEFB119 Gene

protein-coding GIFtS: 45
GCID: GC20M029964

defensin, beta 119

(Previous names: defensin, beta 120 )
(Previous symbol: DEFB120)

Explore 2 diseases affiliated with
DEFB119 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Defensin, Beta 119¹ ² ³		Defensin, Beta 19²
Defensin, Beta 120¹ ² ³		Defensin, Beta 20²
DEFB-19¹ ² ³		DEFB19³
DEFB-20¹ ² ³		DEFB20³
DEFB120¹ ² ³		Beta-Defensin 120³
ESC42-RELA² ³		Beta-Defensin 19³
ESC42-RELB²		Beta-Defensin 20³
Beta-Defensin 119²

External Ids:	HGNC: 18099¹	Entrez Gene: 245932²	Ensembl: ENSG00000180483⁷	UniProtKB: Q8N690³

Export aliases for DEFB119 gene to outside databases

Previous GC identifers: GC20U990234 GC20M029712 GC20M030662 GC20M030709 GC20M029428 GC20M026753

(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 DEFB119:

This gene encodes a member of a family of small secreted proteins. These proteins participate in immune defense against

microbial infection. This gene is located in a cluster of similar genes on chromosome 20. Alternative splicing results

in multiple transcript variants. (provided by RefSeq, Sep 2012)

UniProtKB/Swiss-Prot: DB119_HUMAN, Q8N690

Function: Has antibacterial activity (Potential)

Gene Wiki entry for DEFB119

(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_000020.10 NC_018931.1 NT_011362.10

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the DEFB119 gene promoter:
RORalpha1 MIF-1 GATA-1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: DEFB119 promoter sequence

Search SABiosciences Chromatin IP Primers for DEFB119

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DEFB119

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 20q11.21 Ensembl cytogenetic band: 20q11.21 HGNC cytogenetic band: 20q11.21

DEFB119 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DEFB119 gene location

GeneLoc information about chromosome 20 GeneLoc Exon Structure

GeneLoc location for GC20M029964: view genomic region (about GC identifiers)

Start:	29,964,967 bp from pter	End:	29,978,406 bp from pter
Size:	13,440 bases	Orientation:	minus strand

(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: DB119_HUMAN, Q8N690 (See protein sequence)

Recommended Name: Beta-defensin 119 precursor

Size: 84 amino acids; 9822 Da

Subcellular location: Secreted (Potential)

Secondary accessions: Q5GRG1 Q5JWP1 Q5TH42 Q8N689

Alternative splicing: 3 isoforms: Q8N690-1 Q8N690-2 Q8N690-3 (Abundantly expressed in testis)

Explore the universe of human proteins at neXtProt for DEFB119: NX_Q8N690

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q8N690

DEFB119 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (3 alternative transcripts):

NP_001258138.1 NP_695021.2 NP_697018.1

ENSEMBL proteins:

ENSP00000345768 ENSP00000365499 ENSP00000365492

Reactome Protein details: Q8N690
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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	IEA	--

DEFB119 for ontologies About GeneDecksing

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

DEFB119 for domains About GeneDecksing

1 InterPro domain/family:

IPR025933 Beta_defensin

Graphical View of Domain Structure for InterPro Entry Q8N690

ProtoNet protein and cluster: Q8N690

UniProtKB/Swiss-Prot: DB119_HUMAN, Q8N690

Similarity: Belongs to the beta-defensin family

(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: DB119_HUMAN, Q8N690

Function: Has antibacterial activity (Potential)

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1 GenomeRNAi human phenotype for DEFB119:

Decreased viability with pacli

(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

Beta defensins

	Beta defensins	1.00			Defensins	0.80
	Beta-defensins bind microbial membranes causing disruption	0.89			Pre-pro-defensins are cleaved to remove the signal peptide	0.78

Immune System

Immune System

1.00

Innate Immune System

0.46

Pathway sources
See GeneCards unified pathways
Show all pathways

5/6 Reactome Pathways for DEFB119 (see all 6)

	Pre-pro-defensins are cleaved to remove the signal peptide
	Defensins
	Beta defensins
	Beta-defensins bind microbial membranes causing disruption
	Immune System

DEFB119 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for DEFB119

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	IEA	--

DEFB119 for ontologies About GeneDecksing

(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 Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for DEFB119
Search CenterWatch for drugs/clinical trials and news about DEFB119 / DB119

(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,
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About This Section

REFSEQ mRNAs for DEFB119 gene (3 alternative transcripts):

NM_001271209.1 NM_153289.3 NM_153323.4

Unigene Cluster for DEFB119:

Defensin, beta 119

Hs.516998 [show with all ESTs]

Unigene Representative Sequence: BM559648

4 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000339144(uc002wvs.3) ENST00000492344 ENST00000376321(uc002wvt.3)

ENST00000376315(uc002wvu.1)

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		hsa-miR-590-3p
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Additional cDNA sequence:

AF479698.1 AF479699.1 AY122472.1 AY122473.1 AY358860.1 AY501001.1 BC062212.1 NR_073151.1

NR_073152.1 NR_073153.1

7 DOTS entries:

DT.445431 DT.101981255 DT.75163471 DT.40112149 DT.92418983 DT.97770461 DT.97794573

24/52 AceView cDNA sequences (see all 52):

AY122472 AA910026 NM_173460 NM_153289 AY122473 AW173087 H92096 AW193716

AY358860 AA442458 AI005061 AL709257 BC062212 AW236934 AA807414 BU852363

AI954833 AA769984 BX106379 BM559648 AI631437 BM702993 BU854293 AI651078

GeneLoc Exon Structure

5/6 Alternative Splicing Database (ASD) splice patterns (SP) for DEFB119 (see all 6) About this scheme

ExUns:	1a	·	1b	·	1c	·	1d	^	2a	·	2b	^	3	^	4	^	5a	·	5b
SP1:									-		-		-
SP2:
SP3:									-		-		-		-
SP4:									-		-
SP5:

ECgene alternative splicing isoforms for DEFB119

(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

DEFB119 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TGCCTGCTAA

About this image

DEFB119 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Testis

Seminiferous Tubules

Testis

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See DEFB119 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for DEFB119

SOURCE GeneReport for Unigene cluster: Hs.516998

SABiosciences Custom PCR Arrays for DEFB119

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In Situ
Assay Products:

Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for DEFB119

(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

This gene was present in the common ancestor of human and mouse.

Orthologs for DEFB119 gene from 1/4 species (see all 4) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Defb19^{1 , 5}	defensin beta 19^{1, 5}	75.5(n)¹ 65.06(a)¹		2 (75.31 cM)⁵ 246700¹ NM_145157.3¹ NP_660139.1¹ 152576086⁵

ENSEMBL Gene Tree for DEFB119 (if available)
TreeFam Gene Tree for DEFB119 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

(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

SNP ID	Valid	Clinical significance	Chr 20 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs142320616^1,2	C,	--	29964529(+)	`ACTAT-/CAACAACA`	5	--	ds500¹		0	--	--	--	--
rs6119996^1,2	H	--	29964667(+)	`aactaG/Agccaa`	5	--	ds500¹		4		NS EA	420
rs141286227^1,2		--	29964760(+)	`ATTAAC/GTCATA`	5	--	ds500¹		0	--	--	--	--
rs191469528^1,2		--	29964780(+)	`AAAGCC/TTTCGA`	5	--	ds500¹		0	--	--	--	--
rs145039462^1,2		--	29964841(+)	`TTCTCG/TGTAAT`	5	--	ds500¹		0	--	--	--	--
rs183941727^1,2		--	29964908(+)	`CATTGC/TCACCA`	5	--	ds500¹		0	--	--	--	--
rs138820976^1,2		--	29964914(+)	`CACCAC/TGCAAA`	5	--	ds500¹		0	--	--	--	--
rs2272948^1,2	C,H,	--	29964935(-)	`AATCAT/CAGTGA`	5	--	ds500¹		3		EA NS	1736
rs141914877^1,2		--	29964977(+)	`GGCACA/GTGAAT`	5	--	nc-transcript-variantut3¹		0	--	--	--	--
rs115355226^1,2	C,F,	--	29964988(+)	`TTTAAT/CGAGGG`	5	--	nc-transcript-variantut3¹		1		WA	118

HapMap Linkage Disequilibrium report for DEFB119 (29964967 - 29978406 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for DEFB119: --

SABiosciences Cancer Mutation PCR Assays

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(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

DEFB119 for disorders About GeneDecksing

2 diseases for DEFB119: About MalaCards

meningioma leukemia

Human Genome Epidemiology (HuGE) Navigator: DEFB119 (4 documents)

Export disorders for DEFB119 gene to outside databases

(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 DEFB119 gene, integrated from 9 sources (see all 13):
(articles sorted by number of sources associating them with DEFB119)

Utopia: connect your pdf to the dynamic
world of online information

Discovery of five conserved beta-defensin gene clusters using a computational search strategy. (PubMed id 11854508)^{1, 2, 3} Schutte B.C.... McCray P.B. Jr. (2002)
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)
The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)^{1, 2} Clark H.F.... Gray A.M. (2003)
The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)^{1, 2} Deloukas P....Rogers J. (2001)
Polymorphisms in innate immunity genes and risk of ch ildhood leukemia. (PubMed id 20438785)¹ Han S....Kang D. (2010)
Risk of meningioma and common variation in genes rela ted to innate immunity. (PubMed id 20406964)¹ Rajaraman P....Inskip P.D. (2010)
Common variation in genes related to innate immunity and risk of adult glioma. (PubMed id 19423540)¹ Rajaraman P....Chanock S.J. (2009)
Human beta-defensins. (PubMed id 16710608)¹ Pazgier M....Lubkowski J. (2006)
Identification, characterization, and evolution of a primate beta-defensin gene cluster. (PubMed id 15772680)² Radhakrishnan Y....Hall S.H. (2005)
Defensins of vertebrate animals. (PubMed id 11790538)¹ Lehrer R.I. and Ganz T. (2002)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 245932	HGNC: 18099	AceView: DEFB119	Ensembl:ENSG00000180483	euGenes: HUgn245932
ECgene: DEFB119	H-InvDB: DEFB119

(According to HUGE)
About This Section

(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 DEFB119	Pharmacogenomics, SNPs, Pathways

Intellectual Property for DEFB119 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for DEFB119 gene:
Search GeneIP for patents involving DEFB119

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(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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	OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DEFB119		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DEFB119
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	OriGene Custom Antibody Services for DEFB119		OriGene Custom Protein Services for DEFB119
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	QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat DEFB119
	QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DEFB119
	QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DEFB119
	QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DEFB119
	QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DEFB119
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	GenScript Custom Purified and Recombinant Proteins Services for DEFB119		GenScript cDNA clones with any tag delivered in your preferred vector for DEFB119
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	GenScript Custom overexpressing Cell Line Services for DEFB119		CloneReady with Over 120,000 Genes
	Gene Synthesis: Any Gene in Any Vector		Vector-based siRNA and miRNA, Ready for Transfection
	Gene Mutant Library, Variants up to 10^11		Plasmid Preparation
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	Regulatory tfbs in DEFB119 promoter
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Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

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	Search for Antibodies for DEFB119 at Abcam
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Browse ProSpec Recombinant Proteins

Browse ELISAs, CLIAs, Proteins, and Antibodies at Uscn

Search LifeMap BioReagents cell lines for DEFB119

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Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for DEFB119

	SwitchGear 3'UTR luciferase reporter plasmids for DEFB119
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Search ThermoFisher Antibodies for DEFB119

Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DEFB119

GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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Category			VWF (GIFTS: 73) von Willebrand factor
GIFtS Group

The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes Disease genes DEFB119 gene at Home site.

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DEFB119 Gene

defensin, beta 119

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DEFB119 Gene

defensin, beta 119

Aliasesfor DEFB119 gene

Summariesfor DEFB119 gene

Genomic Viewsfor DEFB119 gene

Proteinsfor DEFB119 gene

Protein Domains /Familiesfor DEFB119 gene

Functionfor DEFB119 gene

Pathways & Interactionsfor DEFB119 gene

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Expression for DEFB119 gene

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Specialized Databases showing DEFB119 gene

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for DEFB119 gene

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for DEFB119 gene

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for DEFB119 gene

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for DEFB119 gene

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for DEFB119 gene

Function
for DEFB119 gene

Pathways & Interactions
for DEFB119 gene

Drugs & Compounds
for DEFB119 gene

Transcripts
for DEFB119 gene

Expression
for DEFB119 gene

Orthologs
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for DEFB119 gene

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for DEFB119 gene

Disorders / Diseases
for DEFB119 gene

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for DEFB119 gene

Intellectual Property
for DEFB119 gene

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for DEFB119 gene