|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
| # | Reference Title | Reference Citation |
| 1. | Clinical biomarkers of pulmonary carcinoid tumors in never smokers via profiling miRNA and target mRNA. | Deng B, etal., Cell Biosci. 2014 Jul 9;4:35. doi: 10.1186/2045-3701-4-35. eCollection 2014. |
| 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. | Rat ISS GO annotations from GOA human gene data--August 2006 | GOA data from the GO Consortium |
| 4. | Mutations in the type IV collagen alpha 3 (COL4A3) gene in autosomal recessive Alport syndrome. | Lemmink HH, etal., Hum Mol Genet. 1994 Aug;3(8):1269-73. |
| 5. | Gene Data Set | MGD Curation, June 12, 2002 |
| 6. | Rat ISS GO annotations from MGI mouse gene data--August 2006 | MGD data from the GO Consortium |
| 7. | Electronic Transfer of LocusLink and RefSeq Data | NCBI rat LocusLink and RefSeq merged data July 26, 2002 |
| 8. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
| 9. | Clinico-pathological correlations in 127 patients in 11 large pedigrees, segregating one of three heterozygous mutations in the COL4A3/ COL4A4 genes associated with familial haematuria and significant late progression to proteinuria and chronic kidney disease from focal segmental glomerulosclerosis. | Pierides A, etal., Nephrol Dial Transplant. 2009 Sep;24(9):2721-9. doi: 10.1093/ndt/gfp158. Epub 2009 Apr 8. |
| 10. | Segregation of experimental autoimmune glomerulonephritis as a complex genetic trait and exclusion of Col4a3 as a candidate gene. | Reynolds J, etal., Exp Nephrol 2002;10(5-6):402-7. |
| 11. | GOA pipeline | RGD automated data pipeline |
| 12. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 13. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 14. | Comprehensive gene review and curation | RGD comprehensive gene curation |
| 15. | Sequence analysis of the 'Goodpasture antigen' of mammals. | Ryan JJ, etal., Nephrol Dial Transplant 1998 Mar;13(3):602-7. |
| 16. | Expression and characterization of recombinant rat alpha 3(IV)NC1 and its use in induction of experimental autoimmune glomerulonephritis. | Ryan JJ, etal., Nephrol Dial Transplant. 2001 Feb;16(2):253-61. |
| 17. | The interplay of collagen IV, tumor necrosis factor-alpha, gelatinase B (matrix metalloprotease-9), and tissue inhibitor of metalloproteases-1 in the basal lamina regulates Sertoli cell-tight junction dynamics in the rat testis. | Siu MK, etal., Endocrinology 2003 Jan;144(1):371-87. |
| 18. | A self T cell epitope induces autoantibody response: mechanism for production of antibodies to diverse glomerular basement membrane antigens. | Wu J, etal., J Immunol 2004 Apr 1;172(7):4567-74. |
| 19. | Differential expression of type IV collagen isoforms in rat glomerular endothelial and mesangial cells. | Zeisberg M, etal., Biochem Biophys Res Commun. 2002 Jul 12;295(2):401-7. |
| PMID:10766752 | PMID:10970885 | PMID:11732842 | PMID:12101409 | PMID:12631063 | PMID:12682293 | PMID:12842087 | PMID:16041630 | PMID:16105036 | PMID:16877525 | PMID:17028444 | PMID:18757743 |
| PMID:19794980 | PMID:27323108 | PMID:27363275 | PMID:28632965 |
| Col4a3 (Rattus norvegicus - Norway rat) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| COL4A3 (Homo sapiens - human) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Col4a3 (Mus musculus - house mouse) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Col4a3 (Chinchilla lanigera - long-tailed chinchilla) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| COL4A3 (Pan paniscus - bonobo/pygmy chimpanzee) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| COL4A3 (Canis lupus familiaris - dog) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Col4a3 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| COL4A3 (Sus scrofa - pig) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| COL4A3 (Chlorocebus sabaeus - green monkey) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Col4a3 (Heterocephalus glaber - naked mole-rat) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Col4a3 (Rattus rattus - black rat) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
.
Variants in Col4a3
900 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 |
| D9Wox12 |
|
|||||||||||||||||||||||||||||||||||
| BE110813 |
|
|||||||||||||||||||||||||||||||||||
| OMM1056 |
|
|
alimentary part of gastrointestinal system
|
appendage
|
circulatory system
|
ectoderm
|
endocrine system
|
endoderm
|
exocrine system
|
hemolymphoid system
|
hepatobiliary system
|
integumental system
|
mesenchyme
|
mesoderm
|
musculoskeletal system
|
nervous system
|
renal system
|
reproductive system
|
respiratory system
|
sensory system
|
visual system
|
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 16 | 12 | 67 | 156 | 85 | 84 | 53 | 87 | 53 | 6 | 345 | 187 | 11 | 134 | 81 | 91 | 31 | 17 | 17 |
| RefSeq Transcripts | NM_001413988 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| XM_006245259 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_039083897 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XR_005488938 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| GenBank Nucleotide | CH474004 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| JAXUCZ010000009 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| L47281 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| Ensembl Acc Id: | ENSRNOT00000020669 ⟹ ENSRNOP00000020669 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
|
| Ensembl Acc Id: | ENSRNOT00000073993 ⟹ ENSRNOP00000065586 | ||||||||
| Type: | CODING | ||||||||
| Position: |
|
| Ensembl Acc Id: | ENSRNOT00000111608 ⟹ ENSRNOP00000108770 | ||||||||
| Type: | CODING | ||||||||
| Position: |
|
| RefSeq Acc Id: | NM_001413988 ⟹ NP_001400917 | ||||||||||||
| RefSeq Status: | VALIDATED | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
|
| RefSeq Acc Id: | XM_039083897 ⟹ XP_038939825 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
|
| RefSeq Acc Id: | XR_005488938 | ||||||||||||
| Type: | NON-CODING | ||||||||||||
| Position: |
|
| Protein RefSeqs | NP_001400917 | (Get FASTA) | NCBI Sequence Viewer |
| XP_038939825 | (Get FASTA) | NCBI Sequence Viewer | |
| GenBank Protein | AAB72238 | (Get FASTA) | NCBI Sequence Viewer |
| EDL75510 | (Get FASTA) | NCBI Sequence Viewer | |
| Ensembl Protein | ENSRNOP00000020669.6 | ||
| ENSRNOP00000108770 | |||
| ENSRNOP00000108770.1 |
| Ensembl Acc Id: | ENSRNOP00000020669 ⟸ ENSRNOT00000020669 |
| RefSeq Acc Id: | XP_038939825 ⟸ XM_039083897 |
| - Peptide Label: | isoform X1 |
| Ensembl Acc Id: | ENSRNOP00000065586 ⟸ ENSRNOT00000073993 |
| RefSeq Acc Id: | NP_001400917 ⟸ NM_001413988 |
| - Peptide Label: | precursor |
| - UniProtKB: | F1LRJ1 (UniProtKB/TrEMBL), A6JWA2 (UniProtKB/TrEMBL) |
| Ensembl Acc Id: | ENSRNOP00000108770 ⟸ ENSRNOT00000111608 |
| Name | Modeler | Protein Id | AA Range | Protein Structure |
| AF-M0R7Z7-F1-model_v2 | AlphaFold | M0R7Z7 | 1-471 | view protein structure |
| AF-F1LRJ1-F1-model_v2 | AlphaFold | F1LRJ1 | 1-1671 | view protein structure |
| eQTL | View at Phenogen | |
| WGCNA | View at Phenogen | |
| Tissue/Strain Expression | View at Phenogen |
| RGD ID: | 13696800 | ||||||||
| Promoter ID: | EPDNEW_R7324 | ||||||||
| Type: | multiple initiation site | ||||||||
| Name: | Col4a3_1 | ||||||||
| Description: | collagen type IV alpha 3 chain | ||||||||
| 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:71085 | AgrOrtholog |
| BioCyc Gene | G2FUF-26979 | BioCyc |
| Ensembl Genes | ENSRNOG00000015365 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL |
| ENSRNOG00000046521 | Ensembl | |
| Ensembl Transcript | ENSRNOT00000020669.7 | UniProtKB/TrEMBL |
| ENSRNOT00000111608 | ENTREZGENE | |
| ENSRNOT00000111608.2 | UniProtKB/TrEMBL | |
| 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 | |
| NDNF | UniProtKB/TrEMBL | |
| NCBI Gene | Col4a3 | ENTREZGENE |
| PANTHER | ALPHA2(IV)-LIKE COLLAGEN | UniProtKB/TrEMBL |
| COL_CUTICLE_N DOMAIN-CONTAINING PROTEIN-RELATED | UniProtKB/TrEMBL | |
| COLLAGEN ALPHA | UniProtKB/TrEMBL | |
| NEURON-DERIVED NEUROTROPHIC FACTOR | UniProtKB/TrEMBL | |
| PTHR14619:SF7 | UniProtKB/TrEMBL | |
| Pfam | Collagen | UniProtKB/TrEMBL |
| PF01413 | UniProtKB/TrEMBL | |
| PhenoGen | Col4a3 | PhenoGen |
| PROSITE | NC1_IV | UniProtKB/TrEMBL |
| RatGTEx | ENSRNOG00000015365 | RatGTEx |
| ENSRNOG00000046521 | RatGTEx | |
| SMART | SM00111 | UniProtKB/TrEMBL |
| Superfamily-SCOP | C-type_lectin_fold | UniProtKB/TrEMBL |
| UniProt | A0ABK0LX72_RAT | UniProtKB/TrEMBL |
| A6JWA2 | ENTREZGENE, UniProtKB/TrEMBL | |
| F1LRJ1 | ENTREZGENE, UniProtKB/TrEMBL | |
| Q63122_RAT | UniProtKB/TrEMBL |
| Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
|---|---|---|---|---|---|---|---|
| 2021-03-09 | Col4a3 | collagen type IV alpha 3 chain | LOC100911572 | collagen alpha-3(IV) chain-like | Data merged from RGD:6491864 | 737654 | PROVISIONAL |
| 2016-06-01 | Col4a3 | collagen type IV alpha 3 chain | Col4a3 | collagen, type IV, alpha 3 | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
| 2012-07-05 | LOC100911572 | collagen alpha-3(IV) chain-like | Symbol and Name status set to provisional | 70820 | PROVISIONAL | ||
| 2010-06-23 | Col4a3 | collagen, type IV, alpha 3 | LOC363265 | similar to procollagen, type IV, alpha 3 | Data merged from RGD:1592052 | 737654 | APPROVED |
| 2008-02-18 | Col4a3 | collagen, type IV, alpha 3 | Col4a3 | procollagen, type IV, alpha 3 | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
| 2006-11-20 | LOC363265 | similar to procollagen, type IV, alpha 3 | Symbol and Name status set to provisional | 70820 | PROVISIONAL | ||
| 2006-03-30 | Col4a3 | procollagen, type IV, alpha 3 | collagen, type IV, alpha 3 | Name updated | 1299863 | APPROVED | |
| 2002-07-09 | Col4a3 | collagen, type IV, alpha 3 | Symbol and Name updated to reflect Human and Mouse nomenclature | 70877 | APPROVED |
| Note Type | Note | Reference |
|---|---|---|
| gene_disease | The peptide pCol(28-40), representing the non-collagen domain 1 of Col4a3, constitutes a T cell epitope which induces severe glomerulonephritis and elicits diverse anti-GBM antibodies in 76% of immunized rats; production of antibodies is not dependent on a peptidic B cell epitope nested within pCol(28-40), suggesting that antibody production may be a consequence of T cell-mediated glomerulonephritis | 1304311 |
| gene_disease | Induction of experimental autoimmune glomerulonephritis (EAG) by immunization with rat glomerular basement membrane in adjuvant results in focal necrotizing glomerulonephritis with crescent formation in Wistar-Kyoto (WKY) rats | 1299240 |
| gene_disease | immunization of Lewis (LEW) rats with rat glomerular basement membrane in adjuvant results in production of antibodies but no evidence of nephritis | 1299240 |
| gene_disease | predicted amino acid sequences of the NC1 region of Col4a3 in the WKY and LEW strains are identical, and linkage analysis does not show significant linkage between EAG and the region of chromosome 9 where the Col4a3 gene is located, implying that Col4a3 is not a recessive susceptibility gene for EAG | 1299240 |
| gene_homology | 91% amino acid identity with human COL4A3 and 95% amino acid identity with mouse Col4a3 | 70692 |
| gene_other | the non-collagenous domain of the rat Col4a3 reacts poorly to the human Goodpasture autoantigen, unlike other species such as bovine, horse and sheep | 70692 |
| gene_other | Application of anti-Col4a3 antibody disrupts the formation of Sertoli cell tight junctions in vitro | 727488 |
| gene_regulation | Application of TNFalpha disrupts the formation of Sertoli cell tight junctions in vitro and also upregulates expression of Col4a3, possibly as a result of a negative feedback loop initiated by TNFalpha-stimulated Mmp9 cleavage of extracellular matrix components | 727488 |