DEFB4A (defensin beta 4A) - Rat Genome Database

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Gene: DEFB4A (defensin beta 4A) Homo sapiens
Analyze
Symbol: DEFB4A
Name: defensin beta 4A
RGD ID: 1348794
HGNC Page HGNC:2767
Description: Enables CCR6 chemokine receptor binding activity and phosphatidylinositol-4,5-bisphosphate binding activity. Involved in chemotaxis and defense response to other organism. Acts upstream of or within defense response to bacterium. Located in extracellular space. Biomarker of common cold; cystic fibrosis; and lung disease (multiple).
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: BD-2; beta defensin 2; beta defensin-2; beta-defensin 2; beta-defensin 4A; DEFB-2; DEFB102; DEFB2; DEFB4; DEFB4B; defensin, beta 2; defensin, beta 4; defensin, beta 4A; HBD-2; SAP1; skin-antimicrobial peptide 1
RGD Orthologs
Mouse
Rat
Dog
Pig
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3887,894,677 - 7,896,716 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl87,894,677 - 7,896,716 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p14 Ensembl87,414,855 - 7,416,863 (-)EnsemblGRCh38hg38GRCh38
GRCh3787,752,199 - 7,754,238 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3687,789,609 - 7,791,647 (+)NCBINCBI36Build 36hg18NCBI36
Build 3487,789,608 - 7,791,647NCBI
Cytogenetic Map8p23.1NCBI
CHM1_187,817,857 - 7,819,910 (+)NCBICHM1_1
T2T-CHM13v2.0812,040,687 - 12,042,691 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


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Object Symbol
Species
Term
Qualifier
Evidence
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Reference
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Source
Original Reference(s)
DEFB4AHumanbacterial pneumonia  IEP 4892266protein:increased expression:plasmaRGD 
DEFB4AHumancommon cold  IEP 4892264mRNA, protein:increased expression:nasal cavity epithelium, nasal mucusRGD 
DEFB4AHumancystic fibrosis  IEP 4892267protein:increased expression:respiratory system fluid/secretionRGD 
DEFB4AHumanlung disease  IEP 4892267protein:increased expression:respiratory system fluid/secretionRGD 
DEFB4AHumanMandibular Neoplasms  IEP 4892265protein:increased expression:respiratory system fluid/secretionRGD 
DEFB4AHumanMycobacterium Infections  IEP 4892261protein:increased expression:plasma, respiratory system fluid/secretionRGD 
DEFB4AHumanpulmonary alveolar proteinosis  IEP 4892262protein:increased expression:respiratory system fluid/secretionRGD 
DEFB4AHumanpulmonary fibrosis  IEP 4892262protein:increased expression:serumRGD 
DEFB4AHumanpulmonary sarcoidosis  IEP 4892262protein:increased expression:serumRGD 
1 to 9 of 9 rows
Object Symbol
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Original Reference(s)
DEFB4AHumanRecombinant Chromosome 8 Syndrome  IAGPRGD:5969443368554872ClinVar Annotator: match by term: Recombinant 8 syndromeClinVarPMID:31690835
Object Symbol
Species
Term
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Original Reference(s)
DEFB4AHumanPneumococcal Pneumonia  EXP 11554173CTD Direct Evidence: marker/mechanismCTDPMID:24894820

1 to 20 of 36 rows

  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
DEFB4AHuman1,2-dimethylhydrazine decreases expressionISORGD:162405464804641,2-Dimethylhydrazine results in decreased expression of DEFB3 mRNACTDPMID:22206623
DEFB4AHuman17beta-estradiol multiple interactionsEXP 6480464[Lipopolysaccharides co-treated with Estradiol] results in increased expression of DEFB4A mRNA; Estradiol promotes the reaction more ...CTDPMID:19819163
DEFB4AHuman3-isobutyl-1-methyl-7H-xanthine multiple interactionsEXP 6480464[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol S] more ...CTDPMID:28628672
DEFB4AHuman4,4'-sulfonyldiphenol multiple interactionsEXP 6480464[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol S] more ...CTDPMID:28628672
DEFB4AHumanacrolein decreases expressionEXP 6480464Acrolein results in decreased expression of DEFB4 mRNA; Acrolein results in decreased expression of DEFB4 more ...CTDPMID:18201443
DEFB4AHumanarsane affects expressionEXP 6480464Arsenic affects the expression of DEFB4 proteinCTDPMID:24675094
DEFB4AHumanarsenic atom affects expressionEXP 6480464Arsenic affects the expression of DEFB4 proteinCTDPMID:24675094
DEFB4AHumanbenzo[a]pyrene increases expressionISORGD:16240546480464Benzo(a)pyrene results in increased expression of DEFB3 mRNACTDPMID:23735875
DEFB4AHumancadmium atom multiple interactionsEXP 6480464[Cadmium Chloride results in increased abundance of Cadmium] which results in decreased expression of DEFB4A more ...CTDPMID:35301059
DEFB4AHumancadmium dichloride multiple interactionsEXP 6480464[Cadmium Chloride results in increased abundance of Cadmium] which results in decreased expression of DEFB4A more ...CTDPMID:35301059
DEFB4AHumanceftaroline multiple interactionsEXP 6480464Ceftaroline inhibits the reaction [[Tetradecanoylphorbol Acetate co-treated with Tobacco Smoke Pollution] results in decreased secretion more ...CTDPMID:27397760|PMID:28720485
DEFB4AHumanCGP 52608 multiple interactionsEXP 6480464CGP 52608 promotes the reaction [RORA protein binds to DEFB4 gene]CTDPMID:28238834
DEFB4AHumandexamethasone multiple interactionsEXP 6480464[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol S] more ...CTDPMID:28628672
DEFB4AHumanglutathione decreases expressionEXP 6480464Glutathione results in decreased expression of DEFB4A mRNACTDPMID:22385246
DEFB4AHumanibuprofen affects expressionEXP 6480464Ibuprofen affects the expression of DEFB4 mRNACTDPMID:17070997
DEFB4AHumanindometacin multiple interactionsEXP 6480464[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol S] more ...CTDPMID:28628672
DEFB4AHumanlipopolysaccharide increases expressionEXP 6480464Lipopolysaccharides results in increased expression of DEFB4 mRNA; Lipopolysaccharides results in increased expression of DEFB4 more ...CTDPMID:15893496|PMID:19819163|PMID:22000456
DEFB4AHumanlipopolysaccharide multiple interactionsEXP 6480464[Lipopolysaccharides co-treated with Estradiol] results in increased expression of DEFB4A mRNA; Estradiol promotes the reaction more ...CTDPMID:19819163
DEFB4AHumanN-acetyl-L-cysteine decreases expressionEXP 6480464Acetylcysteine results in decreased expression of DEFB4A mRNACTDPMID:22385246
DEFB4AHumannickel atom increases expressionEXP 6480464Nickel results in increased expression of DEFB4A mRNACTDPMID:25583101

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Biological Process
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Object Symbol
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Original Reference(s)
DEFB4AHumanantifungal innate immune response involved_inIDA 150520179 PMID:30050988UniProtPMID:30050988
DEFB4AHumanantimicrobial humoral immune response mediated by antimicrobial peptide involved_inIDA 150520179 PMID:19109182, PMID:30050988UniProtPMID:19109182|PMID:30050988
DEFB4AHumanantimicrobial humoral immune response mediated by antimicrobial peptide involved_inIMP 150520179 PMID:9727055UniProtPMID:9727055
DEFB4AHumancell chemotaxis involved_inIBAMGI:2675345|PANTHER:PTN000464032150520179 GO_CentralGO_REF:0000033
DEFB4AHumanchemotaxis involved_inTAS 150520179 PMID:10521347PINCPMID:10521347
DEFB4AHumanchemotaxis involved_inIDA 150520179 PMID:20068036UniProtPMID:20068036
DEFB4AHumandefense response involved_inIEAInterPro:IPR001855|InterPro:IPR006080150520179 InterProGO_REF:0000002
DEFB4AHumandefense response involved_inIEAUniProtKB-KW:KW-0211150520179 UniProtGO_REF:0000043
DEFB4AHumandefense response to bacterium acts_upstream_of_or_withinIMP 150520179 PMID:21115716MGIPMID:21115716
DEFB4AHumandefense response to bacterium involved_inIBAMGI:1351612|MGI:1927667|MGI:2151044|MGI:2654206|MGI:2675345|PANTHER:PTN000464032|UniProtKB:O15263|UniProtKB:P81534|UniProtKB:Q30KQ6|UniProtKB:Q6GXJ1|UniProtKB:Q6QLR1|UniProtKB:Q6QLR2150520179 GO_CentralGO_REF:0000033
DEFB4AHumandefense response to bacterium involved_inIEAUniProtKB-KW:KW-0044150520179 UniProtGO_REF:0000043
DEFB4AHumandefense response to bacterium involved_inIEAARBA:ARBA00028625150520179 UniProtGO_REF:0000117
DEFB4AHumandefense response to fungus involved_inIDA 150520179 PMID:30050988UniProtPMID:30050988
DEFB4AHumandefense response to Gram-negative bacterium involved_inIDA 150520179 PMID:15625724, PMID:20068036UniProtPMID:15625724|PMID:20068036
DEFB4AHumandefense response to Gram-positive bacterium involved_inIDA 150520179 PMID:20068036UniProtPMID:20068036
DEFB4AHumanG protein-coupled receptor signaling pathway involved_inTAS 150520179 PMID:10521347PINCPMID:10521347
DEFB4AHumanimmune response involved_inTAS 150520179 PMID:10521347PINCPMID:10521347
DEFB4AHumanpositive chemotaxis involved_inIEAGO:0042056150520179 GOCGO_REF:0000108
1 to 18 of 18 rows

Cellular Component

  
Object Symbol
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Reference
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Source
Original Reference(s)
DEFB4AHumanextracellular region located_inIEAUniProtKB-KW:KW-0964150520179 UniProtGO_REF:0000043
DEFB4AHumanextracellular region located_inIEAInterPro:IPR001855|InterPro:IPR006080150520179 InterProGO_REF:0000002
DEFB4AHumanextracellular region located_inTAS 150520179 ReactomeReactome:R-HSA-1471338|Reactome:R-HSA-1973968
DEFB4AHumanextracellular region located_inIEAUniProtKB-SubCell:SL-0243150520179 UniProtGO_REF:0000044
DEFB4AHumanextracellular space located_inIDA 150520179 PMID:21115716, PMID:9727055MGIPMID:21115716|PMID:9727055
DEFB4AHumanextracellular space is_active_inIBAPANTHER:PTN000464032|UniProtKB:O15263|UniProtKB:P81534|UniProtKB:Q6QLR1150520179 GO_CentralGO_REF:0000033
DEFB4AHumanGolgi lumen located_inTAS 150520179 ReactomeReactome:R-HSA-1462023|Reactome:R-HSA-1471322
DEFB4AHumanGolgi lumen located_inIEAARBA:ARBA00028705150520179 UniProtGO_REF:0000117

Molecular Function

  
Object Symbol
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Original Reference(s)
DEFB4AHumanCCR6 chemokine receptor binding enablesIDA 150520179 PMID:20068036UniProtPMID:20068036
DEFB4AHumanCCR6 chemokine receptor binding enablesIBAMGI:1927667|PANTHER:PTN000464032|UniProtKB:O15263150520179 GO_CentralGO_REF:0000033
DEFB4AHumanchemoattractant activity enablesIBAMGI:2675345|PANTHER:PTN000464032150520179 GO_CentralGO_REF:0000033
DEFB4AHumanphosphatidylinositol-4,5-bisphosphate binding enablesIDA 150520179 PMID:30050988UniProtPMID:30050988
DEFB4AHumanprotein binding enablesIPIUniProtKB:O75844150520179 PMID:28514442, PMID:33961781IntActPMID:28514442|PMID:33961781
DEFB4AHumanprotein binding enablesIPIUniProtKB:O54689|UniProtKB:P51684150520179 PMID:20068036UniProtPMID:20068036


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#
Reference Title
Reference Citation
1. [Beta-defensins in plasma and bronchoalveolar lavage fluid in patients with non-tuberculous mycobacterium infection]. Ashitani J, etal., Nihon Kokyuki Gakkai Zasshi. 2001 Jan;39(1):12-6.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. [A study of human beta-defensin-1 and human beta-defensin-2 in airway mucosal defense]. Hiratsuka T, etal., Kansenshogaku Zasshi. 1999 Feb;73(2):156-62.
4. Elevated BALF concentrations of alpha- and beta-defensins in patients with pulmonary alveolar proteinosis. Mukae H, etal., Respir Med. 2007 Apr;101(4):715-21. Epub 2006 Sep 26.
5. Human rhinovirus infection induces airway epithelial cell production of human beta-defensin 2 both in vitro and in vivo. Proud D, etal., J Immunol. 2004 Apr 1;172(7):4637-45.
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
7. Increased levels of antimicrobial peptides in tracheal aspirates of newborn infants during infection. Schaller-Bals S, etal., Am J Respir Crit Care Med. 2002 Apr 1;165(7):992-5.
8. Production of beta-defensins by human airway epithelia. Singh PK, etal., Proc Natl Acad Sci U S A. 1998 Dec 8;95(25):14961-6.
9. [Effect of recombinant beta-defensin-2 peptide on apoptosis of pulmonary tissue in rats with sepsis]. Xu XY, etal., Zhejiang Da Xue Xue Bao Yi Xue Ban. 2006 Nov;35(6):600-4.
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1 to 10 of 25 rows
PMID:9202117   PMID:9727055   PMID:9825219   PMID:9831658   PMID:10338476   PMID:10404637   PMID:10456937   PMID:10521347   PMID:10603376   PMID:10837369   PMID:10906336   PMID:11005092  
PMID:11442756   PMID:11453504   PMID:11714836   PMID:11714914   PMID:11728477   PMID:11741980   PMID:11751976   PMID:11934878   PMID:12010514   PMID:12063167   PMID:12174890   PMID:12183584  
PMID:12381917   PMID:12389997   PMID:12395153   PMID:12411706   PMID:12421237   PMID:12477932   PMID:12488564   PMID:12489997   PMID:12519391   PMID:12522054   PMID:12537649   PMID:12612195  
PMID:12710950   PMID:12821122   PMID:12832046   PMID:12892899   PMID:12958190   PMID:14688115   PMID:14703118   PMID:14714554   PMID:14760942   PMID:14963722   PMID:14981906   PMID:15004048  
PMID:15013761   PMID:15161058   PMID:15240151   PMID:15382127   PMID:15385474   PMID:15489334   PMID:15502724   PMID:15529375   PMID:15547668   PMID:15625724   PMID:15661923   PMID:15727258  
PMID:15820309   PMID:15829297   PMID:15985221   PMID:16034119   PMID:16097044   PMID:16201065   PMID:16201312   PMID:16219107   PMID:16242370   PMID:16269090   PMID:16319062   PMID:16341674  
PMID:16417227   PMID:16433908   PMID:16741514   PMID:16762333   PMID:16909382   PMID:17000004   PMID:17254301   PMID:17283097   PMID:17298411   PMID:17392834   PMID:17403538   PMID:17415576  
PMID:17760820   PMID:17922409   PMID:17928537   PMID:17986621   PMID:18059266   PMID:18362142   PMID:18371140   PMID:18449938   PMID:18452706   PMID:18556347   PMID:18566581   PMID:18578886  
PMID:18601854   PMID:18603327   PMID:18627502   PMID:18635180   PMID:18641349   PMID:19056110   PMID:19063971   PMID:19080508   PMID:19109182   PMID:19121950   PMID:19141978   PMID:19172136  
PMID:19194307   PMID:19212650   PMID:19212651   PMID:19233848   PMID:19249126   PMID:19266104   PMID:19412702   PMID:19554343   PMID:19617917   PMID:19702947   PMID:19735472   PMID:19760202  
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DEFB4A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3887,894,677 - 7,896,716 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl87,894,677 - 7,896,716 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p14 Ensembl87,414,855 - 7,416,863 (-)EnsemblGRCh38hg38GRCh38
GRCh3787,752,199 - 7,754,238 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3687,789,609 - 7,791,647 (+)NCBINCBI36Build 36hg18NCBI36
Build 3487,789,608 - 7,791,647NCBI
Cytogenetic Map8p23.1NCBI
CHM1_187,817,857 - 7,819,910 (+)NCBICHM1_1
T2T-CHM13v2.0812,040,687 - 12,042,691 (+)NCBIT2T-CHM13v2.0
Defb3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39819,343,377 - 19,345,355 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl819,343,376 - 19,345,307 (+)EnsemblGRCm39 Ensembl
GRCm38819,293,361 - 19,295,339 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl819,293,360 - 19,295,291 (+)EnsemblGRCm38mm10GRCm38
MGSCv37819,293,361 - 19,295,339 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36819,293,341 - 19,295,316 (+)NCBIMGSCv36mm8
Celera819,417,528 - 19,419,519 (+)NCBICelera
Cytogenetic Map8A1.3NCBI
cM Map810.35NCBI
Defb5
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81677,315,424 - 77,317,828 (-)NCBIGRCr8
mRatBN7.21670,612,985 - 70,615,389 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1670,613,146 - 70,615,467 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1675,890,029 - 75,892,189 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01679,345,916 - 79,367,209 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01674,595,354 - 74,616,645 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01675,597,323 - 75,599,483 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1675,589,530 - 75,599,534 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01675,190,208 - 75,200,200 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41675,403,111 - 75,405,271 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1668,475,476 - 68,477,637 (-)NCBICelera
Cytogenetic Map16q12.5NCBI
DEFB4A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11658,953,916 - 58,956,407 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1658,953,916 - 58,956,407 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1654,479,009 - 54,481,500 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01657,091,988 - 57,094,475 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1657,091,965 - 57,094,519 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11659,114,878 - 59,117,361 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01655,100,644 - 55,103,128 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01655,475,309 - 55,477,794 (+)NCBIUU_Cfam_GSD_1.0
DEFB1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1538,076,057 - 38,077,899 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11538,076,057 - 38,077,899 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Pig Cytomap15q14-q15.1NCBI

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Variants in DEFB4A
5 total Variants

1 to 10 of 217 rows
Name
Type
Condition(s)
Position(s)
Clinical significance
GRCh38/hg38 8p23.1(chr8:7195664-7948707)x1 copy number loss See cases [RCV000133910] Chr8:7195664..7948707 [GRCh38]
Chr8:7053186..7806229 [GRCh37]
Chr8:7040596..7843639 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7514108-8222398)x3 copy number gain Single ventricular heart [RCV000050329]|Intellectual functioning disability [RCV000050330]|See cases [RCV000050329] Chr8:7514108..8222398 [GRCh38]
Chr8:7371630..8079920 [GRCh37]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7195664-7895064)x1 copy number loss See cases [RCV000050276] Chr8:7195664..7895064 [GRCh38]
Chr8:7053186..7752586 [GRCh37]
Chr8:7040596..7789996 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7195664-8222398)x1 copy number loss See cases [RCV000050282] Chr8:7195664..8222398 [GRCh38]
Chr8:7053186..8079920 [GRCh37]
Chr8:7040596..8117330 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.3-21.1(chr8:2475295-27504279)x1 copy number loss See cases [RCV000050297] Chr8:2475295..27504279 [GRCh38]
Chr8:2292235..27361796 [GRCh37]
Chr8:2121457..27417713 [NCBI36]
Chr8:8p23.3-21.1		 pathogenic
GRCh38/hg38 8p23.1(chr8:7411297-8222398)x3 copy number gain See cases [RCV000050484] Chr8:7411297..8222398 [GRCh38]
Chr8:7268819..8079920 [GRCh37]
Chr8:7256229..8117330 [NCBI36]
Chr8:8p23.1		 benign|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 8p23.1(chr8:7411297-8222398)x1 copy number loss See cases [RCV000050492] Chr8:7411297..8222398 [GRCh38]
Chr8:7268819..8079920 [GRCh37]
Chr8:7256229..8117330 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7022782-8273167)x1 copy number loss See cases [RCV000050650] Chr8:7022782..8273167 [GRCh38]
Chr8:6880304..8130689 [GRCh37]
Chr8:6867714..8168099 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7411297-7895064)x3 copy number gain See cases [RCV000050565] Chr8:7411297..7895064 [GRCh38]
Chr8:7268819..7752586 [GRCh37]
Chr8:7256229..7789996 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7411297-7895064)x1 copy number loss See cases [RCV000050573] Chr8:7411297..7895064 [GRCh38]
Chr8:7268819..7752586 [GRCh37]
Chr8:7256229..7789996 [NCBI36]
Chr8:8p23.1		 benign
1 to 10 of 217 rows

Predicted Target Of
Summary Value
Count of predictions:207
Count of miRNA genes:202
Interacting mature miRNAs:207
Transcripts:ENST00000302247
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD ID
Symbol
Name
LOD
P Value
Trait
Sub Trait
Chr
Start
Stop
Species
1298482BP2_HBlood pressure QTL 2 (human)1.8Blood pressurediastolic8695325632953256Human




adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
nervous system
renal system
reproductive system
respiratory system
sensory system
90 395 372 120 666 116 560 111 114 9 571 455 524 154 143 223 525 102



RefSeq Acc Id: NM_004942   ⟹   NP_004933
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3887,894,677 - 7,896,716 (+)NCBI
GRCh3787,752,199 - 7,754,237 (+)ENTREZGENE
Build 3687,789,609 - 7,791,647 (+)NCBI Archive
CHM1_187,817,745 - 7,819,911 (+)NCBI
T2T-CHM13v2.0812,040,687 - 12,042,691 (+)NCBI
Sequence:
RefSeq Acc Id: NP_004933   ⟸   NM_004942
- Peptide Label: precursor
- UniProtKB: Q52LC0 (UniProtKB/Swiss-Prot),   O15263 (UniProtKB/Swiss-Prot)
- Sequence:

Name Modeler Protein Id AA Range Protein Structure
AF-O15263-F1-model_v2 AlphaFold O15263 1-64 view protein structure

RGD ID:7212589
Promoter ID:EPDNEW_H12040
Type:multiple initiation site
Name:DEFB4A_1
Description:defensin beta 4A
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3887,894,677 - 7,894,737EPDNEW


1 to 35 of 35 rows
Database
Acc Id
Source(s)
COSMIC DEFB4A COSMIC
Ensembl Genes ENSG00000171711 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
  ENSG00000177257 Ensembl, UniProtKB/Swiss-Prot
  ENSG00000275444 UniProtKB/Swiss-Prot
  ENSG00000285181 UniProtKB/Swiss-Prot
  ENSG00000285433 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000302247 ENTREZGENE
  ENST00000302247.3 UniProtKB/Swiss-Prot
  ENST00000318157.3 UniProtKB/Swiss-Prot
  ENST00000617136.2 UniProtKB/Swiss-Prot
  ENST00000642856.2 UniProtKB/Swiss-Prot
  ENST00000644124.2 UniProtKB/Swiss-Prot
Gene3D-CATH Antimicrobial Peptide, Beta-defensin 2, Chain A UniProtKB/Swiss-Prot
GTEx ENSG00000171711 GTEx
  ENSG00000177257 GTEx
  ENSG00000275444 GTEx
  ENSG00000285181 GTEx
  ENSG00000285433 GTEx
HGNC ID HGNC:2767 ENTREZGENE
Human Proteome Map DEFB4A Human Proteome Map
InterPro Defensin_beta-typ UniProtKB/Swiss-Prot
  Defensin_beta/alpha UniProtKB/Swiss-Prot
KEGG Report hsa:100289462 UniProtKB/Swiss-Prot
  hsa:1673 UniProtKB/Swiss-Prot
NCBI Gene 1673 ENTREZGENE
OMIM 602215 OMIM
PANTHER BETA-DEFENSIN UniProtKB/Swiss-Prot
  BETA-DEFENSIN 4A UniProtKB/Swiss-Prot
Pfam Defensin_beta UniProtKB/Swiss-Prot
PharmGKB PA27249 PharmGKB
SMART DEFSN UniProtKB/Swiss-Prot
Superfamily-SCOP Defensin-like UniProtKB/Swiss-Prot
UniProt DFB4A_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q52LC0 ENTREZGENE
UniProt Secondary Q52LC0 UniProtKB/Swiss-Prot
1 to 35 of 35 rows


Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 DEFB4A  defensin beta 4A  DEFB4A  defensin, beta 4A  Symbol and/or name change 5135510 APPROVED
2011-07-27 DEFB4A  defensin, beta 4A  DEFB4  defensin, beta 4  Symbol and/or name change 5135510 APPROVED