| Type | Description |
|---|---|
| Definition | collagen type IV alpha 3 chain |
| Date | Results | Publications |
|---|---|---|
| 2021-01-09 13:28:00 | Thrombosis risk of Alport syndrome patients: evaluation of cardiological, clinical, biochemical, genetic and possible causes of inherited thrombophilia and identification of a novel COL4A3 variant. | 32332277 |
| 2020-10-03 12:55:00 | Role of extracellular matrix remodelling gene SNPs in keratoconus. | 31397194 |
| 2020-05-16 11:19:00 | Even with an expanded gene panel, we find that COL4A disorders are the leading monogenic cause in adults diagnosed with FSGS. | 30647093 |
| 2020-01-04 12:06:00 | segregation analysis raises the possibility that Alport syndrome resembles also digenic inheritance by COL4A3/COL4A5 | 30661074 |
| 2019-12-14 10:05:00 | The genetic effect of more pathogenic variants in various diabetic kidney disease susceptibility genes, especially variants in the COL4A3 gene, partially explained the more severe kidney phenotype in probands with kidney biopsy-proven diabetic kidney disease | 30012629 |
| Type | IDs |
|---|---|
| Synonymous | ATS2, ATS3 |
| Gene |
UniProtKB-ID:
CO4A3_HUMAN
UniprotKB:
Q01955
UniParc:
UPI00006C201F,
UPI0000F23CC1,
UPI000022BE5C,
UPI000013E9F3,
UPI00006C2020
EMBL:
AJ288530,
AC097662,
AJ288517,
AJ288504,
AJ288516,
AJ288514,
AJ288502,
AJ288534,
AJ288503,
AJ288488,
AJ288529,
AJ288533,
M81379,
AJ288536,
U02520,
AJ288538,
AJ288512,
AJ288525,
AJ288519,
AJ288528,
AJ288500,
X80031,
AJ288508,
AJ288490,
M92993,
AJ288531,
AJ288487,
AJ288535,
AJ288497,
AJ288494,
AJ288527,
L08650,
AJ288506,
AJ288498,
AJ288493,
AJ288495,
AJ288510,
AJ288511,
AJ288509,
AJ288522,
AJ288489,
AC079235,
AJ288524,
AJ288532,
AJ288501,
AJ288492,
S55790,
AJ288518,
AJ288513,
AB008496,
AJ288515,
AJ288491,
AJ288507,
AF258351,
AJ288521,
AJ288526,
U02519,
AJ288499,
AJ288537,
AC107069,
AJ288523,
AJ288505,
AJ288520,
AJ288496
Ensembl:
ENSG00000169031
KO:
hsa:1285
|
| Nucleutide sequences |
EMBL-CDS:
AAX93111.1,
AAA18943.1,
AAB19637.1,
AAA51556.1,
AAY14671.1,
AAA21610.1,
BAA25064.1,
CAA56335.1,
AAY24251.1,
AAA18942.1,
CAC36101.1,
AAA52044.1,
AAF72632.1
Ensembl_TRS:
ENST00000396578
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000379823
RefSeq:
NP_000082.2,
XP_011508857.1,
XP_006712308.1,
XP_005246337.1,
XP_016858784.1,
XP_011508858.1,
XP_005246334.1
|
| Others |
UniRef100:
UniRef100_Q01955
UniRef90:
UniRef90_Q01955
UniRef50:
UniRef50_Q01955
UniGene:
Hs.570065
CCDS:
CCDS42829.1
|
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|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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