Official symbol | CFHR3 |
Gene id | 10878 |
Organism | Homo sapiens |
Official full symbol | complement factor H related 3 |
Gene type | protein-coding |
Also known as | CFHL3, DOWN16, FHR-3, FHR3, HLF4 |
Summary | The protein encoded by this gene is a secreted protein, which belongs to the complement factor H-related protein family. It binds to heparin, and may be involved in complement regulation. Mutations in this gene are associated with decreased risk of age-related macular degeneration, and with an increased risk of atypical hemolytic-uremic syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. |
Genomic regions | Chromosome 1 |
Name | Transcript ID | bp | Protein | Biotype | CCDS | UniProt Match | RefSeq Match | Flags |
CFHR3-201 | ENST00000367425.9 | 2934 | 330aa | Protein coding | CCDS30958 | Q02985-1 | NM_021023.6 | TSL:1, GENCODE basic, APPRIS P1, MANE Select v0.92, |
CFHR3-203 | ENST00000391985.7 | 1043 | 269aa | Protein coding | CCDS53453 | Q02985-2 | - | TSL:2, GENCODE basic, |
CFHR3-205 | ENST00000471440.6 | 1965 | 232aa | Protein coding | - | Q6NSD3 | - | TSL:1, GENCODE basic, |
CFHR3-206 | ENST00000617219.1 | 1462 | 195aa | Protein coding | - | A0A087WYK9 | - | TSL:5, GENCODE basic, |
CFHR3-202 | ENST00000367427.7 | 1242 | 232aa | Nonsense mediated decay | - | Q6NSD3 | - | TSL:5, |
CFHR3-204 | ENST00000461558.2 | 785 | No protein | Retained intron | - | - | - | TSL:2, |
Target Gene | CFHR3 |
This KO Strategy | loading |
Red Cotton™ Notes | Gene CFHR3 had been KO in a549 cell line. |
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