Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | genetic disease | | ISO | DEFB4A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | |
|
Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | genetic disease | | ISO | DEFB4A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | |
|
|
|
|
|
|
|
|
# | Reference Title | Reference Citation |
1. | 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. |
2. | GOA pipeline | RGD automated data pipeline |
3. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:9727055 | PMID:15625724 | PMID:16033865 | PMID:19109182 | PMID:20068036 | PMID:21115716 |
Defb5 (Rattus norvegicus - Norway rat) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DEFB4A (Homo sapiens - human) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Defb4 (Mus musculus - house mouse) |
|
.
Variants in Defb5
213 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 |
endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | nervous system | reproductive system | respiratory system | |
High | |||||||
Medium | 1 | ||||||
Low | 4 | 3 | |||||
Below cutoff | 3 | 2 | 1 | 2 | 1 | 2 | 5 |
RefSeq Transcripts | NM_001037549 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
GenBank Nucleotide | AC114391 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AY621339 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY621340 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JAXUCZ010000016 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | NM_001037549 ⟹ NP_001032638 | ||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||
Sequence: |
Protein RefSeqs | NP_001032638 | (Get FASTA) | NCBI Sequence Viewer |
GenBank Protein | AAT51878 | (Get FASTA) | NCBI Sequence Viewer |
AAT51879 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSRNOP00000018655 | ||
ENSRNOP00000018655.3 | |||
ENSRNOP00060039957 | |||
GenBank Protein | Q32ZI3 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_001032638 ⟸ NM_001037549 |
- Peptide Label: | precursor |
- UniProtKB: | Q32ZI3 (UniProtKB/Swiss-Prot) |
- Sequence: |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q32ZI3-F1-model_v2 | AlphaFold | Q32ZI3 | 1-63 | view protein structure |
eQTL | View at Phenogen | |
WGCNA | View at Phenogen | |
Tissue/Strain Expression | View at Phenogen |
RGD ID: | 13700230 | ||||||||
Promoter ID: | EPDNEW_R10735 | ||||||||
Type: | single initiation site | ||||||||
Name: | Defb5_1 | ||||||||
Description: | defensin beta 5 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
Database | Acc Id | Source(s) |
AGR Gene | RGD:1563630 | AgrOrtholog |
BioCyc Gene | G2FUF-10821 | BioCyc |
Ensembl Genes | ENSRNOG00000038126 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot |
ENSRNOG00060027676 | UniProtKB/Swiss-Prot | |
Ensembl Transcript | ENSRNOT00000018653 | ENTREZGENE |
ENSRNOT00000018653.6 | UniProtKB/Swiss-Prot | |
ENSRNOT00060048013 | UniProtKB/Swiss-Prot | |
InterPro | Defensin_beta-typ | UniProtKB/Swiss-Prot |
KEGG Report | rno:641624 | UniProtKB/Swiss-Prot |
NCBI Gene | 641624 | ENTREZGENE |
PANTHER | BETA-DEFENSIN | UniProtKB/Swiss-Prot |
BETA-DEFENSIN 4A | UniProtKB/Swiss-Prot | |
Pfam | Defensin_beta | UniProtKB/Swiss-Prot |
PhenoGen | Defb5 | PhenoGen |
RatGTEx | ENSRNOG00000038126 | RatGTEx |
ENSRNOG00060027676 | RatGTEx | |
Superfamily-SCOP | Defensin-like | UniProtKB/Swiss-Prot |
UniProt | DEFB5_RAT | UniProtKB/Swiss-Prot, ENTREZGENE |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2006-11-07 | Defb5 | defensin beta 5 | beta-defensin 5 | Name updated | 1299863 | APPROVED | |
2006-02-09 | Defb5 | beta-defensin 5 | Symbol and Name status set to provisional | 70820 | PROVISIONAL |