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# | Reference Title | Reference Citation |
1. | Identification of mutations in the COL4A5 collagen gene in Alport syndrome. | Barker DF, etal., Science. 1990 Jun 8;248(4960):1224-7. |
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. | New Altered Non-Fibrillar Collagens in Human Dilated Cardiomyopathy: Role in the Remodeling Process. | Gil-Cayuela C, etal., PLoS One. 2016 Dec 9;11(12):e0168130. doi: 10.1371/journal.pone.0168130. eCollection 2016. |
4. | Creation of X-linked Alport syndrome rat model with Col4a5 deficiency. | Namba M, etal., Sci Rep. 2021 Oct 21;11(1):20836. doi: 10.1038/s41598-021-00354-y. |
5. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
6. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
7. | PID Annotation Import Pipeline | Pipeline to import Pathway Interaction Database annotations from NCI into RGD |
8. | GOA pipeline | RGD automated data pipeline |
9. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
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 |
PMID:7885444 | PMID:9264260 | PMID:10534397 | PMID:10970885 | PMID:11732842 | PMID:12101409 | PMID:17418794 | PMID:18757743 | PMID:19275937 | PMID:19794980 |
Col4a5 (Rattus norvegicus - Norway rat) |
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COL4A5 (Homo sapiens - human) |
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Col4a5 (Mus musculus - house mouse) |
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Col4a5 (Chinchilla lanigera - long-tailed chinchilla) |
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COL4A5 (Pan paniscus - bonobo/pygmy chimpanzee) |
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COL4A5 (Canis lupus familiaris - dog) |
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Col4a5 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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COL4A5 (Sus scrofa - pig) |
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COL4A5 (Chlorocebus sabaeus - green monkey) |
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Col4a5 (Heterocephalus glaber - naked mole-rat) |
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Variants in Col4a5
909 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 |
RH130460 |
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alimentary part of gastrointestinal system
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appendage
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circulatory system
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ectoderm
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endocrine system
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endoderm
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exocrine system
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hemolymphoid system
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hepatobiliary system
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integumental system
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mesenchyme
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mesoderm
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musculoskeletal system
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nervous system
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renal system
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reproductive system
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respiratory system
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sensory system
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visual system
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16 | 12 | 67 | 163 | 91 | 90 | 59 | 34 | 59 | 6 | 298 | 134 | 11 | 140 | 81 | 92 | 31 | 17 | 17 |
RefSeq Transcripts | NM_001426996 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
XM_001055156 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006227490 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006227491 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006257313 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_008758534 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_008773475 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_063280126 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | CH474047 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
JAXUCZ010000021 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Ensembl Acc Id: | ENSRNOT00000064478 ⟹ ENSRNOP00000058823 | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Ensembl Acc Id: | ENSRNOT00000108925 ⟹ ENSRNOP00000085447 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Ensembl Acc Id: | ENSRNOT00000142543 ⟹ ENSRNOP00000104853 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001426996 ⟹ NP_001413925 | ||||||||
RefSeq Status: | VALIDATED | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_006257313 ⟹ XP_006257375 | ||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_063280126 ⟹ XP_063136196 | ||||||||
Type: | CODING | ||||||||
Position: |
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Protein RefSeqs | NP_001413925 | (Get FASTA) | NCBI Sequence Viewer |
XP_006257375 | (Get FASTA) | NCBI Sequence Viewer | |
XP_063136196 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | EDL85214 | (Get FASTA) | NCBI Sequence Viewer |
Ensembl Protein | ENSRNOP00000058823.4 | ||
ENSRNOP00000085447 | |||
ENSRNOP00000085447.1 | |||
ENSRNOP00000104853 |
RefSeq Acc Id: | XP_006257375 ⟸ XM_006257313 |
- Peptide Label: | isoform X1 |
- Sequence: |
Ensembl Acc Id: | ENSRNOP00000058823 ⟸ ENSRNOT00000064478 |
Ensembl Acc Id: | ENSRNOP00000085447 ⟸ ENSRNOT00000108925 |
RefSeq Acc Id: | XP_063136196 ⟸ XM_063280126 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | NP_001413925 ⟸ NM_001426996 |
- Peptide Label: | precursor |
- UniProtKB: | A0A8I5ZZ86 (UniProtKB/TrEMBL) |
Ensembl Acc Id: | ENSRNOP00000104853 ⟸ ENSRNOT00000142543 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-F1LUN5-F1-model_v2 | AlphaFold | F1LUN5 | 1-1691 | view protein structure |
eQTL | View at Phenogen | |
WGCNA | View at Phenogen | |
Tissue/Strain Expression | View at Phenogen |
RGD ID: | 13701966 | ||||||||
Promoter ID: | EPDNEW_R12484 | ||||||||
Type: | initiation region | ||||||||
Name: | Col4a5_1 | ||||||||
Description: | collagen type IV alpha 5 chain | ||||||||
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:1565499 | AgrOrtholog |
BioCyc Gene | G2FUF-1526 | BioCyc |
Ensembl Genes | ENSRNOG00000018951 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL |
Ensembl Transcript | ENSRNOT00000064478.4 | UniProtKB/TrEMBL |
ENSRNOT00000108925 | ENTREZGENE | |
ENSRNOT00000108925.1 | UniProtKB/TrEMBL | |
ENSRNOT00000142543 | ENTREZGENE | |
Gene3D-CATH | 2.170.240.10 | UniProtKB/TrEMBL |
InterPro | C-type_lectin_fold | UniProtKB/TrEMBL |
Collagen | UniProtKB/TrEMBL | |
Collagen_IV_NC_sf | UniProtKB/TrEMBL | |
Collagen_superfamily | UniProtKB/TrEMBL | |
Collagen_VI_NC | UniProtKB/TrEMBL | |
NCBI Gene | 363457 | ENTREZGENE |
PANTHER | COL_CUTICLE_N DOMAIN-CONTAINING PROTEIN-RELATED | UniProtKB/TrEMBL |
COLLAGEN ALPHA | UniProtKB/TrEMBL | |
Pfam | Collagen | UniProtKB/TrEMBL |
PF01413 | UniProtKB/TrEMBL | |
PhenoGen | Col4a5 | PhenoGen |
PROSITE | NC1_IV | UniProtKB/TrEMBL |
RatGTEx | ENSRNOG00000018951 | RatGTEx |
SMART | SM00111 | UniProtKB/TrEMBL |
Superfamily-SCOP | C-type_lectin_fold | UniProtKB/TrEMBL |
UniProt | A0A8I5ZZ86 | ENTREZGENE, UniProtKB/TrEMBL |
F1LUN5_RAT | UniProtKB/TrEMBL |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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2016-06-15 | Col4a5 | collagen type IV alpha 5 chain | Col4a5 | collagen, type IV, alpha 5 | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2008-03-31 | Col4a5 | collagen, type IV, alpha 5 | Col4a5 | procollagen, type IV, alpha 5 | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2008-03-03 | Col4a5 | procollagen, type IV, alpha 5 | Col4a5_predicted | collagen, type IV, alpha 5 (predicted) | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2006-03-30 | Col4a5_predicted | collagen, type IV, alpha 5 (predicted) | RGD1565499_predicted | similar to type IV collagen alpha 5 chain (predicted) | Symbol and Name updated | 1299863 | APPROVED |
2006-03-07 | RGD1565499_predicted | similar to type IV collagen alpha 5 chain (predicted) | LOC363457 | similar to type IV collagen alpha 5 chain | Symbol and Name status set to approved | 1299863 | APPROVED |
2006-02-09 | LOC363457 | similar to type IV collagen alpha 5 chain | Symbol and Name status set to provisional | 70820 | PROVISIONAL |