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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

DEFB1 Gene

protein-coding GIFtS: 56
GCID: GC08M006715

defensin, beta 1

Explore 80 diseases affiliated with
DEFB1 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 1¹ ² ³		HBD-1¹
BD1¹ ² ³		MGC51822¹
HBD1¹ ² ³		Beta-Defensin 1²
DEFB-1¹ ²		Beta-Defensin-1¹
DEFB101¹ ²		HBD-1¹
BD-1² ³

External Ids:	HGNC: 2766¹	Entrez Gene: 1672²	Ensembl: ENSG00000164825⁷	OMIM: 602056⁵	UniProtKB: P60022³

Export aliases for DEFB1 gene to outside databases

Previous GC identifers: GC08M006792 GC08M006982 GC08M006508

(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 DEFB1:

Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Members of the defensin family are

highly similar in protein sequence. This gene encodes defensin, beta 1, an antimicrobial peptide implicated in the

resistance of epithelial surfaces to microbial colonization. This gene maps in close proximity to defensin family

member, defensin, alpha 1 and has been implicated in the pathogenesis of cystic fibrosis. (provided by RefSeq, Jul

2008)

UniProtKB/Swiss-Prot: DEFB1_HUMAN, P60022

Function: Has bactericidal activity (By similarity)

Gene Wiki entry for DEFB1 (Defensin, beta 1)

(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_000008.10 NC_018919.1 NT_023736.17

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the DEFB1 gene promoter:
GR p53 GR-alpha NF-kappaB1 C/EBPalpha
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: DEFB1 promoter sequence

Search SABiosciences Chromatin IP Primers for DEFB1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DEFB1

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

Entrez Gene cytogenetic band: 8p23.1 Ensembl cytogenetic band: 8p23.1 HGNC cytogenetic band: 8p23.1

DEFB1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DEFB1 gene location

GeneLoc information about chromosome 8 GeneLoc Exon Structure

GeneLoc location for GC08M006715: view genomic region (about GC identifiers)

Start:	6,728,097 bp from pter	End:	6,735,544 bp from pter
Size:	7,448 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: DEFB1_HUMAN, P60022 (See protein sequence)

Recommended Name: Beta-defensin 1 precursor

Size: 68 amino acids; 7420 Da

Subcellular location: Secreted

Mass spectrometry: Mass=3928; Mass_error=0.5; Method=Electrospray; Range=33-68; Source=PubMed:7628632;

6/15 PDB 3D structures from and Proteopedia for DEFB1 (see all 15):

1E4S (3D)

1IJU (3D)

1IJV (3D)

1KJ5 (3D)

2NLB (3D)

2NLC (3D)

Secondary accessions: Q09753

Explore the universe of human proteins at neXtProt for DEFB1: NX_P60022

DEFB1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_005209.1

ENSEMBL proteins:

ENSP00000297439

Reactome Protein details: P60022
Human Recombinant Protein Products:

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	ProSpec Recombinant Protein for DEFB1
	Browse Proteins at Uscn

Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	TAS	--
GO:0005625	soluble fraction	--	--
GO:0005796	Golgi lumen	TAS	--

DEFB1 for ontologies About GeneDecksing

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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

DEFB1 for domains About GeneDecksing

1 InterPro domain/family:

IPR001855 Defensin_beta-typ

Graphical View of Domain Structure for InterPro Entry P60022

ProtoNet protein and cluster: P60022

UniProtKB/Swiss-Prot: DEFB1_HUMAN, P60022

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: DEFB1_HUMAN, P60022

Function: Has bactericidal activity (By similarity)

Genatlas biochemistry entry for DEFB1:

defensin beta 1,3-4kDa,expressed in many epithelial tissues,implicated in the resistance to microbial

colonization,oxygen independent phagocytosis of Gram+,Gram- bacteria,many fungi,some viruses,within 100-150kb of DEFA

cluster

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In Situ Assay
Products:

Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for DEFB1

Animal Models:
Mouse knock-outs for DEFB1: Defb1^tm1Hgu Defb1^tm1Jmw
3 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Defb1):

immune system

mortality/aging

renal/urinary system

DEFB1 for phenotypes About GeneDecksing

(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 DEFB1 (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

DEFB1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for DEFB1

STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

5/12 Interacting proteins for DEFB1 (P60022^{2, 3} ENSP00000297439⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 12)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
MAP4K2	Q12851²^,³, ENSP00000294066⁴	MINT-8260416 I2D: score=2 STRING: ENSP00000294066
CCR6	P51684³, ENSP00000339393⁴	I2D: score=2 STRING: ENSP00000339393
HAP1	P54257³, ENSP00000334002⁴	I2D: score=1 STRING: ENSP00000334002
RIF1	Q5UIP0³, ENSP00000243326⁴	I2D: score=1 STRING: ENSP00000243326
VIM	P08670³, ENSP00000224237⁴	I2D: score=1 STRING: ENSP00000224237

About this table

Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0002526	acute inflammatory response	IEA	--
GO:0006935	chemotaxis	TAS	10521347
GO:0006955	immune response	TAS	10521347
GO:0007186	G-protein coupled receptor signaling pathway	TAS	10521347
GO:0009617	response to bacterium	ISS	--

DEFB1 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

DEFB1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for DEFB1
9 Novoseek chemical compound relationships for DEFB1 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
hbd2	95.2	58	14568392 (4), 15325564 (4), 15702860 (3), 12819054 (3) (see all 27)
polymyxin b	35.1	4	19926649 (1), 16801413 (1), 15557634 (1)
dexamethasone	4.41	8	15325564 (3), 11162549 (2), 18433872 (1)
glucose	4.1	12	18178160 (3), 17187760 (2)
nacl	2.79	1	12628001 (1)
heparan sulfate	0	2	8624106 (1), 17142766 (1)
rantes	0	2	16362266 (1), 17068477 (1)
ciprofloxacin	0	1	16801413 (1)
retinoic acid	0	1	15304092 (1)

Search CenterWatch for drugs/clinical trials and news about DEFB1

(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,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for DEFB1 gene:

NM_005218.3

Unigene Cluster for DEFB1:

Defensin, beta 1

Hs.32949 [show with all ESTs]

Unigene Representative Sequence: BG696638

1 Ensembl transcript including schematic representation, and UCSC links where relevant:

ENST00000297439(uc003wqs.2)

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DEFB1

Additional cDNA sequence:

BC033298.1 BC047677.1 U73945.1 X92744.1 Z50788.1

3 DOTS entries:

DT.409118 DT.100752182 DT.95148882

24/42 AceView cDNA sequences (see all 42):

BE165509 BC033298 AI733397 AI791809 AA946653 NM_005218 BC047677 AI301290

AI303004 AI769855 BM923781 AI733355 BX280047 AI791691 AI344758 AW467058

AI347238 BM686890 U73945 AI688522 X92744 AI768732 AI688359 AI307245

GeneLoc Exon Structure

(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

DEFB1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AGAACTTCCT

About this image

DEFB1 expression in embryonic tissues and stem cells

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

2 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Lung

Pancreas

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Syncytiotrophoblast-like cells (Generation of syncyt...)

See DEFB1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for DEFB1

SOURCE GeneReport for Unigene cluster: Hs.32949

UniProtKB/Swiss-Prot: DEFB1_HUMAN, P60022

Tissue specificity: Plasma

SABiosciences Expression via Pathway-Focused PCR Arrays including DEFB1:

Necrosis in human mouse rat

Molecular Toxicology PathwayFinder 384HT in human mouse rat

Cell Death PathwayFinder in human mouse rat

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In Situ
Assay Products:

Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for DEFB1

(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 DEFB1 gene from 1/2 species (see all 2) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Defb1⁵	defensin beta 1	--		8 (10.35 cM) 21776599

ENSEMBL Gene Tree for DEFB1 (if available)
TreeFam Gene Tree for DEFB1 (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 8 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs35269640^1,2	C,	--	6511346(+)	`AGGGG-/AAAGGA`	1	--	int¹		2		NA	4
rs75225934^1,2		--	6511346(+)	`AGGGGG/AAAGGA`	1	--	int¹		1		CSA	2
rs181400990^1,2		--	6727612(+)	`ATCCCA/CGCACT`	1	--	ds500¹		0	--	--	--	--
rs2980929^1,2	C	--	6727613(-)	`aagtgA/Ctggga`	1	--	ds500¹		0	--	--	--	--
rs186334745^1,2		--	6727697(+)	`AAACCA/CTGTCT`	1	--	ds500¹		0	--	--	--	--
rs112415008^1,2	C,	--	6727703(-)	`TAGTAA/GAGACA`	1	--	ds500¹		0	--	--	--	--
rs111931219^1,2	C,	--	6727707(-)	`TTTTT-/GTTTTT AGTAA`	1	--	ds500¹		0	--	--	--	--
rs115334998^1,2	F,	--	6727738(+)	`TAGCCA/GGGTAT`	1	--	ds500¹		1		WA	118
rs7837281^1,2	C,A,	--	6727750(+)	`GTGGCC/GGGCAC`	1	--	ds500¹		2		CSA WA	120
rs7833843^1,2	C,F,A,H,	--	6727767(+)	`TCCGAG/ACTAGT`	1	--	ds500¹		15		NS EA NA	2098

HapMap Linkage Disequilibrium report for DEFB1 (6728097 - 6735544 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 3 variations for DEFB1
3 CNVs: 5250 8592 3719
Human Gene Mutation Database (HGMD): DEFB1

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DEFB1

DNA2.0 Custom Variant and Variant Library Synthesis for DEFB1

(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.)
About This Section

DEFB1 for disorders           About GeneDecksing

OMIM gene information: 602056    OMIM disorders: --

20/80 diseases for DEFB1 (see all 80):    About MalaCards

cystic fibrosis fibrosis middle ear cholesteatoma patent ductus arteriosus

otitis media pulmonary alveolar proteinosis renal clear cell carcinoma vulvovaginal candidiasis

corneal abscess lepromatous leprosy localized scleroderma diffuse panbronchiolitis

inflammatory bowel disease duodenal ulcer mycosis fungoides panbronchiolitis

vulvovaginitis chronic obstructive pulmonary disease cholesteatoma candidiasis

2 diseases from the University of Copenhagen DISEASES database for DEFB1:

Bipolar I disorder Corneal abscess

10/35 Novoseek disease relationships for DEFB1 gene (see all 35) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
bronchoalveolar lavage fluid	52.1	4	10213993 (1), 11296379 (1), 15463886 (1)
chronic tonsillitis	51	2	15222256 (1)
bacterial infections	49.5	5	20476598 (2), 12238953 (2), 12819054 (1)
chronic periodontitis	48.9	6	17760820 (2), 15206914 (1), 19712472 (1)
cystic fibrosis	45.5	6	9727055 (1), 9488417 (1), 9664579 (1), 11844962 (1) (see all 5)
renal clear cell carcinoma	44.9	3	12695553 (1), 16951166 (1)
inflammation	43.4	27	12519391 (2), 11023262 (2), 15382127 (2), 15472341 (1) (see all 17)
acne vulgaris	40.9	4	11710922 (2), 14568392 (1)
gastritis	39	14	12171956 (3), 18991164 (2), 15702860 (1), 20400909 (1) (see all 5)
nasal polyps	31.2	15	19141978 (3), 11485020 (1)

Genetic Association Database (GAD): DEFB1
Human Genome Epidemiology (HuGE) Navigator: DEFB1 (51 documents)

Export disorders for DEFB1 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 DEFB1 gene, integrated from 9 sources (see all 310):
(articles sorted by number of sources associating them with DEFB1)

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

hBD-1: a novel beta-defensin from human plasma. (PubMed id 7628632)^{1, 2, 3, 9} Bensch K.W....Forssmann W.-G. (1995)
Single-nucleotide polymorphisms (SNPs) in human beta-defensin 1: high-throughput SNP assays and association with Candida carriage in type I diabetics and nondiabetic controls. (PubMed id 12517831)^{1, 4, 9} Jurevic R.J....Dale B.A. (2003)
The structure of human beta-defensin-1: new insights into structural properties of beta-defensins. (PubMed id 11486002)^{1, 2, 9} Hoover D.M.... Lubkowski J. (2001)
Association of defensin beta-1 gene polymorphisms with asthma. (PubMed id 15696078)^{1, 4, 9} Levy H....Weiss S.T. (2005)
Human airway epithelia express a beta-defensin. (PubMed id 9070620)^{1, 2, 9} McCray P.B. Jr. and Bentley L. (1997)
Distribution of human beta-defensin polymorphisms in various control and cystic fibrosis populations. (PubMed id 15820309)^{1, 4, 9} Vankeerberghen A....Cuppens H. (2005)
Genetic variants of human beta-defensin-1 and chronic obstructive pulmonary disease. (PubMed id 11829455)^{1, 4, 9} Matsushita I....Keicho N. (2002)
The human beta-defensin-1 and alpha-defensins are encoded by adjacent genes: two peptide families with differing disulfide topology share a common ancestry. (PubMed id 9268634)^{1, 2, 9} Liu L.... Ganz T. (1997)
Chemical synthesis of beta-defensins and LEAP-1/hepcidin. (PubMed id 12010514)^{1, 2, 9} Kluever E.... Adermann K. (2002)
Single-nucleotide polymorphisms and haplotype analysis in beta-defensin genes in different ethnic populations. (PubMed id 12537649)^{1, 4, 9} Jurevic R.J....Dale B.A. (2002)

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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 1672	HGNC: 2766	AceView: DEFB1	Ensembl:ENSG00000164825	euGenes: HUgn1672
ECgene: DEFB1	H-InvDB: DEFB1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
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Name	Description
PharmGKB entry for DEFB1	Pharmacogenomics, SNPs, Pathways

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Patent Information for DEFB1 gene:
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