Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | genetic disease | | ISO | DEFB4B (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | |
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Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | genetic disease | | ISO | DEFB4B (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | |
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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. | Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
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. | Molecular cloning and characterization of rat genes encoding homologues of human beta-defensins. | Jia HP, etal., Infect Immun 1999 Sep;67(9):4827-33. |
5. | Rat ISS GO annotations from MGI mouse gene data--August 2006 | MGD data from the GO Consortium |
6. | 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. |
7. | Electronic Transfer of LocusLink and RefSeq Data | NCBI rat LocusLink and RefSeq merged data July 26, 2002 |
8. | 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. |
9. | GOA pipeline | RGD automated data pipeline |
10. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
11. | Comprehensive gene review and curation | RGD comprehensive gene curation |
12. | 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. |
13. | 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. |
14. | [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. |
PMID:9727055 | PMID:12533413 | PMID:15625724 | PMID:16033865 | PMID:19109182 | PMID:20068036 | PMID:20150208 | PMID:21115716 | PMID:21518253 | PMID:23670560 |
Defb4 (Rattus norvegicus - Norway rat) |
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DEFB4B (Homo sapiens - human) |
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Defb7 (Mus musculus - house mouse) |
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LOC103215308 (Chlorocebus sabaeus - green monkey) |
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Variants in Defb4
160 total Variants |
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 |
PMC96815P2 |
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circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | appendage | |
High | 2 | |||||||||||
Medium | 9 | |||||||||||
Low | 9 | 4 | 5 | 4 | 4 | 4 | 1 | 8 | 4 | |||
Below cutoff | 8 | 9 | 3 | 8 | 3 | 4 | 4 | 13 | 5 | 10 | 4 |
RefSeq Transcripts | NM_022544 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
GenBank Nucleotide | AC114391 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AF068861 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY621374 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH473970 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JAXUCZ010000016 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSRNOT00000058029 ⟹ ENSRNOP00000054838 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | NM_022544 ⟹ NP_071989 | ||||||||||||||||||||||||||||
RefSeq Status: | PROVISIONAL | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_071989 | (Get FASTA) | NCBI Sequence Viewer |
GenBank Protein | AAC28072 | (Get FASTA) | NCBI Sequence Viewer |
AAT51913 | (Get FASTA) | NCBI Sequence Viewer | |
EDM08969 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSRNOP00000054838 | ||
ENSRNOP00000054838.1 | |||
ENSRNOP00055011526 | |||
ENSRNOP00060025119 | |||
ENSRNOP00065010344 | |||
GenBank Protein | O88514 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_071989 ⟸ NM_022544 |
- Peptide Label: | precursor |
- UniProtKB: | Q32ZE9 (UniProtKB/Swiss-Prot), O88514 (UniProtKB/Swiss-Prot), A6IWA3 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSRNOP00000054838 ⟸ ENSRNOT00000058029 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-O88514-F1-model_v2 | AlphaFold | O88514 | 1-63 | view protein structure |
eQTL | View at Phenogen | |
WGCNA | View at Phenogen | |
Tissue/Strain Expression | View at Phenogen |
RGD ID: | 13700212 | ||||||||
Promoter ID: | EPDNEW_R10736 | ||||||||
Type: | single initiation site | ||||||||
Name: | Defb4_1 | ||||||||
Description: | defensin beta 4 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | RGD:619944 | AgrOrtholog |
BioCyc Gene | G2FUF-10820 | BioCyc |
Ensembl Genes | ENSRNOG00000013939 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot |
ENSRNOG00055008533 | UniProtKB/Swiss-Prot | |
ENSRNOG00060018093 | UniProtKB/Swiss-Prot | |
ENSRNOG00065008731 | UniProtKB/Swiss-Prot | |
Ensembl Transcript | ENSRNOT00000058029 | ENTREZGENE |
ENSRNOT00000058029.2 | UniProtKB/Swiss-Prot | |
ENSRNOT00055014398 | UniProtKB/Swiss-Prot | |
ENSRNOT00060031014 | UniProtKB/Swiss-Prot | |
ENSRNOT00065013897 | UniProtKB/Swiss-Prot | |
InterPro | Defensin_beta-typ | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
KEGG Report | rno:64389 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
NCBI Gene | 64389 | ENTREZGENE |
PANTHER | BETA-DEFENSIN | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
BETA-DEFENSIN 4A | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | Defensin_beta | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PhenoGen | Defb4 | PhenoGen |
RatGTEx | ENSRNOG00000013939 | RatGTEx |
ENSRNOG00055008533 | RatGTEx | |
ENSRNOG00060018093 | RatGTEx | |
ENSRNOG00065008731 | RatGTEx | |
Superfamily-SCOP | Defensin-like | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | A6IWA3 | ENTREZGENE, UniProtKB/TrEMBL |
DEFB4_RAT | UniProtKB/Swiss-Prot, ENTREZGENE | |
Q32ZE9 | ENTREZGENE | |
UniProt Secondary | Q32ZE9 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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2006-11-07 | Defb4 | defensin beta 4 | Defb3 | defensin beta 3 | Symbol and Name updated | 1299863 | APPROVED |
2004-09-10 | Defb3 | defensin beta 3 | Defb2 | beta defensin-2 | Symbol and Name updated | 1299863 | APPROVED |
2002-08-07 | Defb2 | beta defensin-2 | Symbol and Name status set to provisional | 70820 | PROVISIONAL |
Note Type | Note | Reference |
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gene_expression | ubiquitously expressed; abundant in lung | 727279 |
gene_protein | 63 amino acids | 727279 |