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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

DEFB127 Gene

protein-coding GIFtS: 46
GCID: GC20P000086

defensin, beta 127

(Previous name: chromosome 20 open reading frame 73 )
(Previous symbol: C20orf73)

Explore 5 diseases affiliated with
DEFB127 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 127¹ ² ³		DEFB27² ³
C20orf73¹ ² ³		Chromosome 20 Open Reading Frame 73¹
DEF-27¹ ²		Beta Defensin 27²
BA530N10.2¹		Beta-Defensin 127²
Beta-Defensin 27² ³		HBD-27¹
DEFB-27² ³

External Ids:	HGNC: 16206¹	Entrez Gene: 140850²	Ensembl: ENSG00000088782⁷	UniProtKB: Q9H1M4³

Export aliases for DEFB127 gene to outside databases

Previous GC identifers: GC20P000126 GC20P000133

(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 DEFB127:

Defensins are cysteine-rich cationic polypeptides that are important in the immunologic response to invading

microorganisms. The protein encoded by this gene is secreted and is a member of the beta defensin protein family. Beta

defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 20p13.

(provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: DB127_HUMAN, Q9H1M4

Function: Has antibacterial activity (Potential)

Gene Wiki entry for DEFB127

(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_011387.8

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the DEFB127 gene promoter:
POU2F2 (Oct-2.1) oct-B2 oct-B3 p53 POU2F2 Evi-1 POU2F2C POU2F1 POU2F1a POU2F2B
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: DEFB127 promoter sequence

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Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DEFB127

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

Entrez Gene cytogenetic band: 20p13 Ensembl cytogenetic band: 20p13 HGNC cytogenetic band: 20p13

DEFB127 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DEFB127 gene location

GeneLoc information about chromosome 20 GeneLoc Exon Structure

GeneLoc location for GC20P000086: view genomic region (about GC identifiers)

Start:	138,111 bp from pter	End:	139,804 bp from pter
Size:	1,694 bases	Orientation:	plus 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: DB127_HUMAN, Q9H1M4 (See protein sequence)

Recommended Name: Beta-defensin 127 precursor

Size: 99 amino acids; 11343 Da

Subcellular location: Secreted (Potential)

Secondary accessions: Q14DW7

Explore the universe of human proteins at neXtProt for DEFB127: NX_Q9H1M4

DEFB127 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_620713.1

ENSEMBL proteins:

ENSP00000371825

Reactome Protein details: Q9H1M4
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Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005575	cellular_component	ND	--
GO:0005576	extracellular region	IEA	--

DEFB127 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

DEFB127 for domains About GeneDecksing

1 InterPro domain/family:

IPR025933 Beta_defensin

Graphical View of Domain Structure for InterPro Entry Q9H1M4

ProtoNet protein and cluster: Q9H1M4

UniProtKB/Swiss-Prot: DB127_HUMAN, Q9H1M4

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: DB127_HUMAN, Q9H1M4

Function: Has antibacterial activity (Potential)

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(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 DEFB127 (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

DEFB127 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for DEFB127

Gene Ontology (GO): 2 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0042742	defense response to bacterium	TAS	10588992
GO:0045087	innate immune response	TAS	10588992

DEFB127 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 DEFB127
Search CenterWatch for drugs/clinical trials and news about DEFB127 / DB127

(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,
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About This Section

REFSEQ mRNAs for DEFB127 gene:

NM_139074.3

Unigene Cluster for DEFB127:

Defensin, beta 127

Hs.99362 [show with all ESTs]

Unigene Representative Sequence: AA454191

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

ENST00000382388(uc002wcy.1)

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Additional cDNA sequence:

AF525929.1 AY122479.1 AY358796.1 BC069486.1 BC109395.1 BC110085.1

1 DOTS entry:

DT.103194

11 AceView cDNA sequences:

BC069486 AF525929 NM_139074 BV174973 AA454191 AA812652 BX112987 AY358796

AI694319 AY122479 AW182571

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

DEFB127 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TAAAAAAATT

About this image

DEFB127 expression in embryonic tissues and stem cells

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

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

PureStem™ progenitor EN2 (Embryonic Progenitor Cell)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See DEFB127 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for DEFB127

SOURCE GeneReport for Unigene cluster: Hs.99362

SABiosciences Custom PCR Arrays for DEFB127

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In Situ
Assay Products:

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(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

--

ENSEMBL Gene Tree for DEFB127 (if available)
TreeFam Gene Tree for DEFB127 (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
				--	--	--		--	--
rs6086171^1,2	C,F,A,H,	--	136374(+)	`AATTTG/ATCCTT`	1	--	us2k¹		10		NS EA NA	666
rs6077246^1,2	C,F,H,	--	136454(+)	`TTTAAT/CAGGAA`	1	--	us2k¹		12		EA NS NA WA	806
rs35721811^1,2	C,F,	--	136461(+)	`GGAAGG/ACTTTT`	1	--	us2k¹		3		NA	124
rs201871718^1,2		--	136512(+)	`ATGCT-/CCACCACC`	1	--	us2k¹		0	--	--	--	--
rs185835662^1,2		--	136557(+)	`GAAGAC/TTATAA`	1	--	us2k¹		0	--	--	--	--
rs6108048^1,2	C,F,H,	--	136568(+)	`ATAATA/CAAACC`	1	--	us2k¹		15		NS EA NA CSA WA	1741
rs12185780^1,2	C,F,A,H,	--	136721(+)	`AAACAT/CATTCT`	1	--	us2k¹ tfbs³		10		NS EA NA WA	740
rs114895146^1,2	C,F,	--	136780(+)	`TAAGCC/AAACTG`	1	--	us2k¹		1		WA	118
rs71327421^1,2	C,	--	136927(+)	`GGTAG-/AAAAAA`	1	--	us2k¹		1		NA	2
rs35882948^1,2	C	--	136929(+)	`AAAAAA/-TACCC`	1	--	us2k¹		1		NA	2

HapMap Linkage Disequilibrium report for DEFB127 (138111 - 139804 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for DEFB127
2 CNVs: 9313 2249

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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

DEFB127 for disorders About GeneDecksing

5 diseases for DEFB127: About MalaCards

retinopathy of prematurity hepatitis b meningioma hepatitis

leukemia

Human Genome Epidemiology (HuGE) Navigator: DEFB127 (5 documents)

Export disorders for DEFB127 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 DEFB127 gene, integrated from 9 sources (see all 16):
(articles sorted by number of sources associating them with DEFB127)

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)
Signal peptide prediction based on analysis of experimentally verified cleavage sites. (PubMed id 15340161)^{1, 2} Zhang Z. and Henzel W.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)
Distribution of new human beta-defensin genes clustered on chromosome 20 in functionally different segments of epididymis. (PubMed id 12620395)^{1, 2} Rodriguez-Jimenez F.-J.... Motzkus D. (2003)
The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)^{1, 2} Deloukas P....Rogers J. (2001)
New genetic associations detected in a host response study to hepatitis B vaccine. (PubMed id 20237496)¹ Davila S....Seielstad M. (2010)
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)
Dynamics of cullin-RING ubiquitin ligase network revea led by systematic quantitative proteomics. (PubMed id 21145461)¹ Bennett E.J....Harper J.W. (2010)

(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: 140850	HGNC: 16206	AceView: DEFB127	Ensembl:ENSG00000088782	euGenes: HUgn140850
ECgene: DEFB127	H-InvDB: DEFB127

(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 DEFB127	Pharmacogenomics, SNPs, Pathways

Intellectual Property for DEFB127 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for DEFB127 gene:
Search GeneIP for patents involving DEFB127

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),
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About This Section


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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 DEFB127 gene at Home site.

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DEFB127 Gene

defensin, beta 127

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Export list of displayed genes

DEFB127 Gene

defensin, beta 127

Aliasesfor DEFB127 gene

Summariesfor DEFB127 gene

Genomic Viewsfor DEFB127 gene

Proteinsfor DEFB127 gene

Protein Domains /Familiesfor DEFB127 gene

Functionfor DEFB127 gene

Pathways & Interactionsfor DEFB127 gene

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Expression for DEFB127 gene

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Specialized Databases showing DEFB127 gene

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for DEFB127 gene

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for DEFB127 gene

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for DEFB127 gene

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for DEFB127 gene

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for DEFB127 gene

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for DEFB127 gene

Pathways & Interactions
for DEFB127 gene

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for DEFB127 gene

Transcripts
for DEFB127 gene

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for DEFB127 gene

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for DEFB127 gene

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for DEFB127 gene

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for DEFB127 gene

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for DEFB127 gene

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for DEFB127 gene

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for DEFB127 gene

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for DEFB127 gene