| Type | Description |
|---|---|
| Definition | complement factor H related 4 |
| Date | Results | Publications |
|---|---|---|
| 2020-05-23 11:09:00 | FHR-4 as a key molecular player contributing to complement dysregulation in the age-related macular degeneration.FHR-4 is expressed in the liver but not in the eye. | 32034129 |
| 2019-09-07 10:14:00 | The SNP rs3753396 in CFH and SNP rs6685931 in CFHR4 are associated with systemic complement activation levels. The SNP rs6685931 in CFHR4 and its linked haplotype H1-2 also conferred a risk for age-related macular degeneration (AMD) development, and therefore could be used to identify AMD patients who would benefit most from complement-inhibiting therapies. | 29398083 |
| 2019-07-27 10:03:00 | Reports an association between a rare variant in the complement factor H-related 4 (CFHR4) gene and phenytoin-induced maculopapular exanthema in Europeans. This variant is in complete linkage disequilibrium with a missense variant (N1050Y) in the complement factor H (CFH) gene. In addition, results reinforce the association between HLA-A*31:01 and carbamazepine hypersensitivity. | 29288229 |
| 2019-07-13 10:20:00 | The combination of three proteins - apolipoprotein A-IV, complement factor H-related protein 4 and platelet basic protein - demonstrated the best classification performance for our data for diagnosis of growth hormone defic. | 29317355 |
| 2016-06-16 11:47:00 | Next-generation sequencing of the CFH region identified putatively functional variants (missense, splice site and indel) on the four common haplotypes. We found no expression of any of the five CFH-related genes in the retina or RPE/Choroid/Sclera, in contrast to the liver, which is the main source of the circulating proteins. [CFHR4] | 27196323 |
| Type | IDs |
|---|---|
| Synonymous | CFHL4, FHR-4, FHR4 |
| Gene |
UniProtKB-ID:
FHR4_HUMAN
UniprotKB:
Q92496
UniParc:
UPI0001F6C576,
UPI00002046CD,
UPI0000D6206A
EMBL:
BX248415,
BC074957,
AK292752,
AJ640130,
AF190816,
X98337,
CH471067,
AL139418
Ensembl:
ENSG00000134365
KO:
hsa:10877
|
| Nucleutide sequences |
EMBL-CDS:
CAG26679.2,
AAF05951.1,
CAA66980.1,
BAF85441.1,
EAW91266.1,
AAH74957.1
Ensembl_TRS:
ENST00000608469,
ENST00000251424,
ENST00000367416
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000477162,
ENSP00000356386,
ENSP00000251424
RefSeq:
NP_001188480.1,
XP_016855603.1,
XP_016855600.1,
NP_001188479.1,
XP_016855599.1,
XP_016855601.1,
XP_016855602.1,
NP_006675.2,
XP_006711192.1
|
| Others |
UniRef100:
UniRef100_Q92496
UniRef90:
UniRef90_Q92496
UniRef50:
UniRef50_Q92496
UniGene:
Hs.710100
CCDS:
CCDS55671.1,
CCDS41451.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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