DEFA4 Gene
protein-coding GIFtS: 50
GCID: GC08M006780
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defensin, alpha 4, corticostatin
(Previous symbol: DEF4)
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Aliases
for DEFA4 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Defensin, Alpha 4, Corticostatin1 2 | | Corticostatin1 | | DEF41 2 3 5 | | Defensin, Alpha 4, Preproprotein2 | | HP-41 2 3 | | Neutrophil Defensin 42 | | HNP-42 3 | | Defensin, Alpha 43 | | HP42 5 | | |
Export aliases for DEFA4 gene to outside databasesPrevious GC identifers: GC08M006857 GC08M007047 GC08M006953 GC08M006572 |
Summaries
for DEFA4 gene(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 DEFA4:
Defensins are a family of microbicidal and cytotoxic peptides thought to be involved in host defense. They are abundantin the granules of neutrophils and also found in the epithelia of mucosal surfaces such as those of the intestine,respiratory tract, urinary tract, and vagina. Members of the defensin family are highly similar in protein sequenceand distinguished by a conserved cysteine motif. Several alpha defensin genes are clustered on chromosome 8. This genediffers from other genes of this family by an extra 83-base segment that is apparently the result of a recentduplication within the coding region. The protein encoded by this gene, defensin, alpha 4, is found in theneutrophils; it exhibits corticostatic activity and inhibits corticotropin stimulated corticosterone production.(provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: DEF4_HUMAN, P12838Function: Has antimicrobial activity against Gram-negative bacteria, and to a lesser extent also against Gram-positivebacteria and fungi. Protects blood cells against infection with HIV-1 (in vitro). Inhibits corticotropin(ACTH)-stimulated corticosterone production
Gene Wiki entry for DEFA4
|
Genomic Views
for DEFA4 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 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 DEFA4 gene promoter:
ER-alpha AREB6 POU2F1 POU2F1a POU3F2 (N-Oct-5b) POU3F2 (N-Oct-5a) POU3F2
Other transcription factors
Search SABiosciences Chromatin IP Primers for DEFA4
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DEFA4 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 8p23 Ensembl cytogenetic band: 8p23.1 HGNC cytogenetic band: 8p23.1DEFA4 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 GC08M006780: view genomic region
(about GC identifiers)
Start:
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6,793,344 bp from pter |
End:
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6,795,860 bp from pter |
Size:
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2,517 bases |
Orientation:
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minus strand |
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Proteins
for DEFA4 gene
(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: DEF4_HUMAN, P12838 (See
protein sequence)Recommended Name: Neutrophil defensin 4 precursor Size: 97 amino acids; 10504 Da
Subunit: Homodimer
Subcellular location: Secreted
1 PDB 3D structure from  and Proteopedia  for DEFA4:1ZMM (3D)
Explore the universe of human proteins at neXtProt for DEFA4: NX_P12838
DEFA4 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_001916.1
ENSEMBL proteins: ENSP00000297435 Reactome Protein details: P12838
Human Recombinant Protein Products:
Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table
DEFA4 for ontologies About GeneDecksing
DEFA4 Antibody Products:
Assay Products for DEFA4: |
Protein
Domains /
Families
for DEFA4 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
DEFA4 for domains About GeneDecksing
4 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry P12838ProtoNet protein and cluster: P12838 1 Blocks protein family: IPB002366 Defensin propeptide
UniProtKB/Swiss-Prot: DEF4_HUMAN, P12838Similarity: Belongs to the alpha-defensin family |
Function
for DEFA4 gene
(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: DEF4_HUMAN, P12838Function: Has antimicrobial activity against Gram-negative bacteria, and to a lesser extent also against Gram-positivebacteria and fungi. Protects blood cells against infection with HIV-1 (in vitro). Inhibits corticotropin(ACTH)-stimulated corticosterone production Genatlas biochemistry entry for DEFA4:defensin alpha 4,3-4kDa,hematopoietic,released from azurophil granules of neutrophiles,oxygen independent phagocytosisof Gram+,Gram- bacteria,many fungi,some viruses
Clone
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OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DEFA4
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: DEFA4 (NM_001925) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for DEFA4 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DEFA4 |
1 GenomeRNAi human phenotype for DEFA4:
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Pathways & Interactions
for DEFA4 gene
(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 |
|---|
| 1 | Alpha-defensins | | | 2 | Immune System | | | 3 | Beta defensins | |
Pathway sources
See GeneCards unified pathways
Show all pathways
5/6 
Reactome Pathways for DEFA4 (see all 6)
DEFA4 for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for DEFA4
STRING Interaction
Network Preview (showing 4 interactants - click image to see more details)
4 Interacting proteins for DEFA4 (ENSP000002974354) via UniProtKB, MINT, STRING, and/or I2DAbout this table
Gene Ontology (GO): 4 biological process terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
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| GO:0031640 | killing of cells of other organism |
IEA | -- | | GO:0042742 | defense response to bacterium |
IEA | -- | | GO:0045087 | innate immune response |
TAS | -- | | GO:0050832 | defense response to fungus |
IEA | -- |
DEFA4 for ontologies About GeneDecksing
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Drugs & Compounds
for DEFA4 gene(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
|
DEFA4 for compounds About GeneDecksing
 Browse Tocris compounds for DEFA4
1 HMDB Compound for DEFA4 About this table
1 Novoseek chemical compound relationship for DEFA4 gene About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| bactenecin |
88.8 |
1 |
8145294 (1) |
Search CenterWatch for drugs/clinical trials and news about DEFA4 / DEF4
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Transcripts
for DEFA4 gene(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 DEFA4 gene: NM_001925.1 Unigene Cluster for DEFA4: Defensin, alpha 4, corticostatin Hs.591391 [show with all ESTs]Unigene Representative Sequence: BU6166551 Ensembl transcript including schematic representation, and UCSC links where relevant: ENST00000297435(uc003wqu.1)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DEFA4
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DEFA4
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: DEFA4 (NM_001925) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for DEFA4 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DEFA4 |
Additional cDNA sequence: BC093959.1 BC106747.2 BC112091.1 X65977.1 1 DOTS entry: DT.402738 19 AceView cDNA sequences: X65977 NM_001925 AW468357 AA722853 AI250799 BU616655 BX099382 BX643610 AI082774 AJ705655 BI021222 AI081728 BI024041 BI021150 AJ706033 BI024114 BI024040 BI024172 BI024046
GeneLoc Exon Structure
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Expression
for DEFA4 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 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
| DEFA4 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --
About this image
See DEFA4 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for DEFA4
SOURCE GeneReport for Unigene cluster: Hs.591391
SABiosciences Custom PCR Arrays for DEFA4
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DEFA4
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse / rat DEFA4 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DEFA4 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DEFA4 |
Orthologs
for DEFA4 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)
About This Section
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--
ENSEMBL Gene Tree for DEFA4 (if available)
TreeFam Gene Tree for DEFA4 (if available) |
Paralogs
for DEFA4 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for DEFA4 gene
- DEFA1B2 DEFA32 DEFA12 DEFA62 DEFA52
6 SIMAP similar genes for DEFA4 using alignment to 2 protein entries: DEF4_HUMAN (see all proteins):DEFA6 DEFA1 DEFA1B DEFA3 DEFA5 Em
DEFA4 for paralogs About GeneDecksing
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Genomic Variants
for DEFA4 gene(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
|
| 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 |
|---|
HapMap Linkage Disequilibrium report for DEFA4 (6793344 - 6795860 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 3 variations for DEFA4
3 CNVs: 8592 4577 3719 | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DEFA4 |
|
Disorders
/ Diseases
for DEFA4 gene
(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
|
DEFA4 for disorders About GeneDecksing
OMIM gene information: 601157
OMIM disorders: --
15  diseases for DEFA4: About MalaCardsoral leukoplakia leukoplakia atopic dermatitis herpes simplex
pulmonary fibrosis dermatitis hepatitis b fibrosis
meningioma influenza hepatitis tuberculosis
leukemia neuronitis mycobacterium tuberculosis
Human Genome Epidemiology (HuGE) Navigator: DEFA4 (11 documents)
Export disorders for DEFA4 gene to outside databases
|
Publications
for DEFA4 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)
About This Section
|
PubMed articles for DEFA4 gene, integrated from 9 sources (see all 37):
(articles sorted by number of sources associating them with DEFA4) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- The gene encoding the human corticostatin HP-4 precursor contains a recent 86-base duplication and is located on chromosome 8. (PubMed id 8469233)1, 2, 3, 9 Palfree R.G.E.... Solomon S. (1993)
- Human neutrophil alpha-defensin 4 inhibits HIV-1 infection in vitro. (PubMed id 15620707)1, 2, 9 Wu Z....Lu W. (2005)
- Crystal structures of human alpha-defensins HNP4, HD5, and HD6. (PubMed id 17088326)1, 2 Szyk A....Lubkowski J. (2006)
- Purification and characterization of human neutrophil peptide 4, a novel member of the defensin family. (PubMed id 2500436)1, 2 Wilde C.G.... Scott R.W. (1989)
- Antibiotic proteins of human polymorphonuclear leukocytes. (PubMed id 2501794)1, 2 Gabay J.E.... Nathan C.F. (1989)
- Structure of a novel human granulocyte peptide with anti-ACTH activity. (PubMed id 2843187)1, 2 Singh A.... Solomon S. (1988)
- I+-defensin 1-3 and I+-defensin 4 as predictive markers of imatinib resistance and relapse in CML patients. (PubMed id 21734341)1 Etienne G....Turcq B. (2011)
- Gene expression of oncogenes, antimicrobial peptides, and cytokines in the development of oral leukoplakia. (PubMed id 20727496)1 Wenghoefer M....Winter J. (2010)
- Risk of meningioma and common variation in genes rela ted to innate immunity. (PubMed id 20406964)1 Rajaraman P....Inskip P.D. (2010)
- New genetic associations detected in a host response study to hepatitis B vaccine. (PubMed id 20237496)1 Davila S....Seielstad M. (2010)
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External Searches for DEFA4 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
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Genome Databases showing DEFA4 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing DEFA4 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing DEFA4 gene(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 DEFA4 | Pharmacogenomics, SNPs, Pathways |
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| | |
About This Section
| Patent Information for DEFA4 gene:
Search GeneIP for patents involving DEFA4
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for DEFA4 gene(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
|
 | |
 | |
 |
| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for DEFA4 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for DEFA4 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DEFA4 | | | Browse OriGene Protein Over-expression Lysates | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for DEFA4 | | OriGene 3'-UTR Clone for DEFA4 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DEFA4 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DEFA4 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for DEFA4 | | OriGene Custom Protein Services for DEFA4 | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat DEFA4 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DEFA4 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DEFA4 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DEFA4 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DEFA4 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DEFA4 |
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 | | | | |  |  |  | | | | Search ThermoFisher Antibodies for DEFA4 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DEFA4 |
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