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DEFB119 Gene

protein-coding GIFtS: 42

GC20M026753

defensin, beta 119
(Previous names: defensin, beta 120 )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: DEFB120)

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

Aliases & Descriptions
defensin, beta 119¹ ² ³		DEFB120² ³
Defensin, beta 120¹ ² ³		defensin, beta 20²
DEFB-19¹ ² ³		MGC71893²
DEFB-20¹ ² ³		beta-defensin 119²
Beta-defensin 19² ³		ESC42-RELB²
Beta-defensin 120² ³		defensin, beta 19²
Beta-defensin 20² ³		DEFB19³
ESC42-RELA² ³		DEFB20³

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 GC20M029964

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 60), Regulatory elements and Epigenetics data according to Qiagen and/or SABiosciences)
About This Section

Regulatory elements:

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

Search SABiosciences Chromatin IP Primers for DEFB119

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays

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

Entrez Gene cytogenetic band: 20q11.1 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 gene densities for chromosome 20 GeneLoc Exon Structure

GeneLoc location for GC20M026753: view genomic region (about GC identifiers)

Start:	26,753,723 bp from pter
End:	26,767,160 bp from pter
Size:	13,438 bases
Orientation:	minus strand

1 alternative location:

Chr20- 29,964,967-29,978,406

RefSeq DNA sequence:

NC_000020.10 NT_011362.10

(According to ¹UniProtKB, neXtProt, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, and/or ProSpec,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Dec 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, and/or Epitomics)
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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 Q8N689

Alternative splicing: 2 isoforms: Q8N690-1 Q8N690-2

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

REFSEQ proteins (3 alternative transcripts):

NP_695021.2 NP_697018.1 NP_775689.1

ENSEMBL proteins:

ENSP00000345768 ENSP00000365499 ENSP00000365492

Human Recombinant Proteins

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1 Gene Ontology (GO) cellular component term (GO ID links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	IEA	--

About this table

DEFB119 for ontologies About GeneDecksing

Antibodies for DEFB119:

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	Browse ELISAs and CLIAs at Uscn

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

ProtoNet protein and cluster: Q8N690

UniProtKB/Swiss-Prot: DB119_HUMAN, Q8N690

Similarity: Belongs to the beta-defensin family

(According to UniProtKB, IUBMB,and/or Genatlas, Animal models from MGI Dec 24 2010,
shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich, microRNA from Sigma-Aldrich, Qiagen, SABiosciences, Clones from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, Cell Lines from GenScript, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene.)
About This Section

UniProtKB/Swiss-Prot: DB119_HUMAN, Q8N690

Function: Has antibacterial activity (Potential)

Inhib. RNA:		Browse for Gene Knock-down Tools from Millipore
		Browse Nano Scale siRNA at Sigma-Aldrich Sigma-Aldrich siRNA for DEFB119 Sigma-Aldrich shRNA for DEFB119
		OriGene 29mer shRNA kits in GFP-retroviral vector (see all 3): DEFB119 OriGene shRNA RFP (see all 3): DEFB119 OriGene basic RS shRNA (see all 3): DEFB119 OriGene siRNA (see all 3): DEFB119
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miRNA:		Sigma-Aldrich microRNA Mimics for DEFB119 Sigma-Aldrich microRNA target validation systems for DEFB119
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Gene
Editing:

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Cell
Lines:

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(Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB, Sets of similar genes according to GeneDecks, PCR Arrays from SABiosciences, Proteins Network according to SABiosciences, Sigma-Aldrich, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene).
About This Section

SABiosciences Custom Pathway-Focused PCR Arrays for DEFB119

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

1 Gene Ontology (GO) biological process term (GO ID links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0042742	defense response to bacterium	IEA	--

About this table

DEFB119 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse Small Molecules at Sigma-Aldrich

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for DEFB119

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 228 Homo sapiens; Dec 8 2010) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Millipore,
siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene, microRNA from Sigma-Aldrich, Qiagen, SABiosciences,
Tagged/untagged cDNA clones from OriGene, Sigma-Aldrich, GenScript, Primers from OriGene and/or SABiosciences)
About This Section

Inhib. RNA:		Browse for Gene Knock-down Tools from Millipore
		Browse Nano Scale siRNA at Sigma-Aldrich Sigma-Aldrich siRNA for DEFB119 Sigma-Aldrich shRNA for DEFB119
		OriGene 29mer shRNA kits in GFP-retroviral vector (see all 3): DEFB119 OriGene shRNA RFP (see all 3): DEFB119 OriGene basic RS shRNA (see all 3): DEFB119 OriGene siRNA (see all 3): DEFB119
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of DEFB119

miRNA:		Sigma-Aldrich microRNA Mimics for DEFB119 Sigma-Aldrich microRNA target validation systems for DEFB119
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of DEFB119
		Search SABiosciences for Assays for microRNAs that regulate DEFB119

Clones:		Browse FLAG tag genes at Sigma-Aldrich
		OriGene GFP tagged cDNA clones in CMV expression vector (see all 3): DEFB119 OriGene Myc/DDK tagged cDNA clones in CMV expression vector (see all 3): DEFB119 OriGene untagged cDNA clones in CMV expression vector (see all 3): DEFB119 OriGene 3'-UTR Clone (see all 3): DEFB119 Browse OriGene MicroRNA Expression Plasmids
		GenScript cDNA clones with any tag delivered in your preferred vector (see all 3): DEFB119

Primers:		OriGene genome-wide validated SYBR primer pairs: DEFB119 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay for DEFB119: PPH13027A

REFSEQ mRNAs for DEFB119 gene (3 alternative transcripts):

NM_153289.2 NM_153323.3 NM_173460.1

Additional cDNA sequence:

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

7 DOTS entries:

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

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

NM_153289 NM_173460 AY122472 AY122473 AW173087 AA910026 AW291899 BU852363

BC062212 AI631437 BU854293 AA769984 H92096 AA442458 BM702993 AI954833

AI651078 BX106379 AW236934 AI005061 AA807414 AL709257 AW235353 BM559648

highest scoring ESTs for DEFB119:

AI651078 AA442458 AA769984 AA833735 AA910026 AA939044 AA972135 AI631437 AI656090 AI807541

Unigene Cluster for DEFB119:

Defensin, beta 119

Hs.516998 [show with all ESTs]

Unigene Representative Sequence: BM559648

GeneLoc Exon Structure

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

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

About this scheme

ECgene alternative splicing isoforms for DEFB119
4 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000339144(uc002wvs.2) ENST00000376321(uc002wvt.2) ENST00000376315(uc002wvu.1)

ENST00000492344

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 228 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Primers from OriGene and/or SABiosciences )
About This Section

DEFB119 expression in normal and diseased human tissues

¹ / ² / ³

5 probe-sets matching DEFB119 gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
47637_at²^{, 3}	U95-B	1	1.00	1.00	0.70	0.95	AI651078	1.00	1.00	1.00	1
42625_at²^{, 3}	U95-B	1	0.44	1.00	0.39	1.06	H92063	0.60	1.00	0.82	1
231155_at²^{, 3}	U133-B	1	1.00	1.00	--	--	AW193716	0.80	1.00	0.91	1
231155_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
1553093_a_at²	U133Plus2	1	0.82	1.00	--	--	--	--	--	--	--

About this table

DEFB119 for expression About GeneDecksing

Data from Genenote (Publications) and GNF BioGPS
About these images

DEFB119 gene electronic northern expression

About these images

CGAP SAGE TAG: TGCCTGCTAA

SOURCE GeneReport for Unigene cluster: Hs.516998

Primers:		OriGene genome-wide validated SYBR primer pairs: DEFB119 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay for DEFB119: PPH13027A

SABiosciences Custom PCR Arrays for DEFB119

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Dec 24 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for DEFB119 gene from 3 species

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
cow (Bos taurus)	DEFB119¹	--	defensin, beta 119	79.27(n) 65.85(a)	767957 XM_001252583.1 XP_001252584.1
rat (Rattus norvegicus)	Defb24¹	--	defensin beta 24	75.1(n) 62.65(a)	641632 NM_001037508.1 NP_001032597.1
mouse (Mus musculus)	Defb19^{1 , 5}	2 (75.31 cM)⁵	defensin beta 19^{1, 5}	75.5(n)¹ 65.06(a)¹	246700¹ NM_145157.2¹ NP_660139.1¹ AF532614⁵ AK133049⁵ (see all 9)

About this table Species with no ortholog for DEFB119

ENSEMBL Gene Tree for DEFB119 (if available)

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

(SNPs according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
About This Section

SNP ID	Valid	Chr 20 pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
Genomic Data				Transcription Related Data				Allele Frequencies
			--	--	--		--	--
rs709045^1,2	C,F,A,	29965014(-)	`TGGGCG/ACAGAG`	2	--	ut3¹ ese³		16		EA MN NS NA	2582
rs1989598^1,2	C,A,H	29971358(-)	`cctggA/Cctttt`	2	--	int¹ trp³		0	--	--	--	--
rs1989599^1,2	C,A	29971336(-)	`TTTTTT/AAGACA`	2	--	int¹		2		NA	4
rs1989600^1,2	C,A	29971435(-)	`ggtctC/Tgatct`	2	--	int¹		2		NA WA	4
rs2206381^1,2	C,F,O,A,H,	29978216(-)	`CGTGAG/ACCTCT`	3	--	int¹		19		NS EA NA WA	1088
rs2206382^1,2	C,F,O,A,H,	29970537(-)	`TTGAAC/TATGAA`	2	--	int¹		20		NS EA NA WA	1220
rs2206383^1,2	C,F,H,	29966362(-)	`tgggtG/Tgctct`	2	--	int¹		16		NS EA NA WA	732
rs2223525^1,2	H	29978298(-)	`TCTCAG/AGTCTG`	3	--	ut5¹ ese³		4		NS EA	414
rs2223526^1,2	C,F,A,	29970639(-)	`ATTAGG/TTGGAA`	2	--	int¹		6		NS EA NA	492
rs2223527^1,2	C,F,A,H,	29966275(-)	`gaacgT/Cggatg`	2	--	int¹		16		NS EA NA WA	732

About this table

HapMap Linkage Disequilibrium images for DEFB119 (up to first 250kb)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for DEFB119: --

QIAGEN SeqTarget long-range PCR primers for resequencing DEFB119

(in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, and/or TGDB.)
About This Section

DEFB119 for disorders About GeneDecksing

Human Genome Epidemiology (HuGE) Navigator: DEFB119 (3 documents)

Export disorders and mutations for DEFB119 gene to outside databases

(Possibly Related Articles in Doctor's Guide)
About This Section

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶UniProtKB/TrEMBL, and/or ⁷Novoseek)
About This Section

10/11 PubMed articles for DEFB119 gene, integrated from 7 sources (see all 11):
(articles sorted by number of sources associating them with DEFB119)

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)
Defensins of vertebrate animals. (PubMed id 11790538)¹ Lehrer R.I. and Ganz T. (2002)
Testis-specific expression of a novel mouse defensin-like gene, Tdl. (PubMed id 12128228)¹ Yamamoto M. and Matsui Y. (2002)
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)¹ Strausberg R.L....Marra M.A. (2002)

(in PubMed, OMIM, and NCBI Bookshelf)
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		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 ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Intellectual Property for DEFB119 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from XenneX, 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 by Millipore, Sigma-Aldrich, R&D Systems, Qiagen, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Epitomics, ProSpec, Uscn,
Clones available from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, PCR Arrays from SABiosciences, Drugs and/or compounds by Sigma-Aldrich, Tocris Bioscience, and/or Enzo Life Sciences)
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	QIAGEN Custom miScript Target Protector blocks miRNA-binding site of DEFB119
	SeqTarget long-range PCR primers for resequencing DEFB119
	QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays
	QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of DEFB119

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DEFB119 Gene

protein-coding GIFtS: 42

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DEFB119 Gene

protein-coding GIFtS: 42

Aliases & Descriptionsfor DEFB119 gene

Summariesfor DEFB119 gene

Genomic Viewsfor DEFB119 gene

Proteinsfor DEFB119 gene

Protein Domains/Familiesfor DEFB119 gene

Gene Functionfor DEFB119 gene

Pathways & Interactionsfor DEFB119 gene

Drugs & Compoundsfor DEFB119 gene

Transcriptsfor DEFB119 gene

Expression for DEFB119 gene

Orthologsfor DEFB119 gene

Paralogsfor DEFB119 gene

Genomic Variantsfor DEFB119 gene

Disorders & Mutationsfor DEFB119 gene

Medical Newsfor DEFB119 gene

Publicationsfor DEFB119 gene

External Searches for DEFB119 gene

Genome Databases showing DEFB119 gene

Other Databases showing DEFB119 gene

Specialized Databases showing DEFB119 gene

Intellectual Propertyfor DEFB119 gene

Productsfor DEFB119 gene

View Random Gene

Aliases &
Descriptions
for DEFB119 gene

Summaries
for DEFB119 gene

Genomic Views
for DEFB119 gene

Proteins
for DEFB119 gene

Protein Domains/
Families
for DEFB119 gene

Gene Function
for DEFB119 gene

Pathways & Interactions
for DEFB119 gene

Drugs & Compounds
for DEFB119 gene

Transcripts
for DEFB119 gene

Expression
for DEFB119 gene

Orthologs
for DEFB119 gene

Paralogs
for DEFB119 gene

Genomic Variants
for DEFB119 gene

Disorders & Mutations
for DEFB119 gene

Medical News
for DEFB119 gene

Publications
for DEFB119 gene

Intellectual Property
for DEFB119 gene

Products
for DEFB119 gene