CFHR3 (complement factor H related 3)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10878
Gene name Gene Name - the full gene name approved by the HGNC.
Complement factor H related 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CFHR3
Synonyms (NCBI Gene) Gene synonyms aliases
CFHL3, DOWN16, FHR-3, FHR3, HLF4
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q31.3
Summary Summary of gene provided in NCBI Entrez Gene.
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-re
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
SNP ID Visualize variation Clinical significance Consequence
rs745503234 G>A,T Likely-pathogenic Genic downstream transcript variant, coding sequence variant, missense variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(63)
miRTarBase ID miRNA Experiments Reference
MIRT708793 hsa-miR-7151-5p HITS-CLIP 19536157
MIRT708792 hsa-miR-181a-3p HITS-CLIP 19536157
MIRT708791 hsa-miR-29a-5p HITS-CLIP 19536157
MIRT708790 hsa-miR-5007-3p HITS-CLIP 19536157
MIRT708789 hsa-miR-587 HITS-CLIP 19536157
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(4)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 20042240, 28533443
GO:0005615 Component Extracellular space TAS 8428964
GO:0070062 Component Extracellular exosome HDA 23533145
GO:0072562 Component Blood microparticle HDA 22516433
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
605336 16980 ENSG00000116785
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q02985
Protein name Complement factor H-related protein 3 (FHR-3) (DOWN16) (H factor-like protein 3)
Protein function Might be involved in complement regulation.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00084 Sushi 23 → 87 Sushi repeat (SCR repeat) Domain
PF00084 Sushi 87 → 140 Sushi repeat (SCR repeat) Domain
PF00084 Sushi 146 → 203 Sushi repeat (SCR repeat) Domain
PF00084 Sushi 210 → 264 Sushi repeat (SCR repeat) Domain
Tissue specificity TISSUE SPECIFICITY: Expressed by the liver and secreted in plasma.
Sequence 
MLLLINVILTLWVSCANGQVKPCDFPDIKHGGLFHENMRRPYFPVAVGKYYSYYCDEHFE
TPSGSYWDYIHCTQNGWSPAVPCLRKCYFPYLENGYNQNYGRKFVQGNSTEVACHPGYGL
PKAQTTVTCTEKGWSPTPRCIRVRTCSKSDIEIENGFISESSSIYILNKEIQYKCKPGYA
TADGNSSGSITCLQNGWSAQPICINSSEKCGPPPPISNGDTTSFLLKVYVPQSRVEYQCQ
PYYELQGSNYVTCSNGEWSEPPRCIHPCIITEENMNKNNIKLKGRSDRKYYAKTGDTIEF
MCKLGYNANTSILSFQAVCREGIVEYPRCE
Sequence length 330
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Complement and coagulation cascades   Regulation of Complement cascade
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (6)
Causal
Disease term Disease name dbSNP ID References
Complement component deficiency Complement deficiency disease rs387906509, rs1467298230, rs1022194067, rs774370086, rs121964922, rs372345940, rs121913052, rs121913053, rs460897, rs121913054, rs121913056, rs121913058, rs796052138, rs41286844, rs121909592
View all (29 more)
Glomerulonephritis IGA Glomerulonephritis rs778043831 21399633
Hemolytic uremic syndrome Hemolytic-Uremic Syndrome, Atypical Hemolytic Uremic Syndrome, Atypical hemolytic uremic syndrome with anti-factor H antibodies rs398124292, rs121964913, rs33972593, rs460897, rs121909590, rs121909583, rs460184, rs104886189, rs312262697, rs312262698, rs312262696, rs138924661, rs869312973, rs886039869, rs886039868
View all (24 more)
Hyperlipidemia Hyperlipidemia rs118204057, rs118204060, rs118204062, rs1563569634, rs118204069, rs118204070, rs118204071, rs1566946168, rs1064797075
Show/Hide Unknown Diseases (1)
Unknown
Disease term Disease name Evidence References Source
Hemolytic Uremic Syndrome hemolytic uremic syndrome, atypical, susceptibility to, 1 GenCC
Show/Hide Text Mining Associations (44)
Associations from Text Mining
Disease Name Relationship Type References
Ataxia Telangiectasia Associate 28729648
Atypical Hemolytic Uremic Syndrome Associate 17367211, 18006700, 19745068, 22410797, 27064621, 29740447, 31118930, 35617302, 36091034, 36591301, 36793547, 37147581
Autism Spectrum Disorder Associate 37031449
Calcinosis Associate 35398599
Carcinoma Hepatocellular Associate 31524260, 32148377, 34813686, 35549979, 35852862, 36994451, 37248957
Cardiomyopathies Associate 37147581
Cholangiocarcinoma Associate 37773863
Complement Component 3 Deficiency Autosomal Recessive Associate 28729648
Complement Factor H Deficiency Inhibit 17367211
Complement Factor H Deficiency Associate 28729648