Description
complement factor H-related 3 [Source:HGNC Symbol;Acc:16980]
Gene Synonyms
CFHL3, DOWN16, FHR-3, FHR3, HLF4
Location
Chromosome 1: 196,743,925-196,763,203 forward strand.
GRCh37:CM000663.1
About this gene
This gene has 5 transcripts (splice variants), 6 paralogues and is associated with 2 phenotypes.
Transcripts
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
---|---|---|---|---|---|---|---|---|---|
ENST00000471440.2 | CFHR3-005 | 1965 | 232aa | ENSP00000436258.1 | Protein coding | Q6NSD3 | - | GENCODE basic, | |
ENST00000367425.4 | CFHR3-001 | 1645 | 330aa | ENSP00000356395.4 | Protein coding | CCDS30958 | Q02985 | NM_021023.5 | GENCODE basic, |
ENST00000391985.3 | CFHR3-006 | 1043 | 269aa | ENSP00000375845.3 | Protein coding | CCDS53453 | Q02985 | NM_001166624.1 | GENCODE basic, |
ENST00000367427.3 | CFHR3-003 | 1242 | 232aa | ENSP00000356397.3 | Nonsense mediated decay | Q6NSD3 | - | - | |
ENST00000461558.2 | CFHR3-004 | 785 | No protein | - | Retained intron | - | - | - |