Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
81494
Gene name Gene Name - the full gene name approved by the HGNC.
Complement factor H related 5
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CFHR5
Synonyms (NCBI Gene) Gene synonyms aliases
CFHL5, CFHR5D, FHR-5, FHR5
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CFHR5D
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.
This gene is a member of a small complement factor H (CFH) gene cluster on chromosome 1. Each member of this gene family contains multiple short consensus repeats (SCRs) typical of regulators of complement activation. The protein encoded by this gene has
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs41299613 T>C Uncertain-significance, conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant
rs368209619 A>- Pathogenic Coding sequence variant, frameshift variant
rs565457964 ->A,AA Uncertain-significance, conflicting-interpretations-of-pathogenicity, benign, likely-benign Coding sequence variant, frameshift variant
rs751010317 C>A Uncertain-significance, pathogenic Coding sequence variant, stop gained
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT619366 hsa-miR-3664-5p HITS-CLIP 23824327
MIRT631575 hsa-miR-483-3p HITS-CLIP 23824327
MIRT633597 hsa-miR-6777-3p HITS-CLIP 23824327
MIRT633596 hsa-miR-4258 HITS-CLIP 23824327
MIRT631574 hsa-miR-1304-3p HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 23487775, 23728178, 25910212, 32296183
GO:0005576 Component Extracellular region NAS 11058592
GO:0005576 Component Extracellular region TAS
GO:0006957 Process Complement activation, alternative pathway NAS 11058592
GO:0030449 Process Regulation of complement activation TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
608593 24668 ENSG00000134389
Protein
UniProt ID Q9BXR6
Protein name Complement factor H-related protein 5 (FHR-5)
Protein function Involved in complement regulation. The dimerized forms have avidity for tissue-bound complement fragments and efficiently compete with the physiological complement inhibitor CFH.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00084 Sushi 23 83 Sushi repeat (SCR repeat) Domain
PF00084 Sushi 87 140 Sushi repeat (SCR repeat) Domain
PF00084 Sushi 147 201 Sushi repeat (SCR repeat) Domain
PF00084 Sushi 208 262 Sushi repeat (SCR repeat) Domain
PF00084 Sushi 269 322 Sushi repeat (SCR repeat) Domain
PF00084 Sushi 389 442 Sushi repeat (SCR repeat) Domain
PF00084 Sushi 449 503 Sushi repeat (SCR repeat) Domain
Tissue specificity TISSUE SPECIFICITY: Expressed by the liver and secreted in plasma.
Sequence
Sequence length 569
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Complement and coagulation cascades   Regulation of Complement cascade
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Breast cancer Malignant neoplasm of breast rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158
View all (309 more)
Cholestasis Cholestasis rs121909103, rs751511532, rs376368459, rs762702807, rs1578490102, rs1578499691, rs1578504946, rs1317656688, rs199791850, rs1452792080, rs1578491039 27989131
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)
28673452
Glomerulonephritis Glomerulonephritis rs778043831
Unknown
Disease term Disease name Evidence References Source
C3 glomerulopathy CFHR5 DEFICIENCY, C3 glomerulopathy 23026947, 22622361, 20800271, 28673452, 27458560, 22503529, 23402027, 24067434 ClinVar
Asthma Asthma GWAS
Associations from Text Mining
Disease Name Relationship Type References
Asthma Associate 30366082
Ataxia Telangiectasia Associate 28729648
Atypical Hemolytic Uremic Syndrome Associate 22622361, 36793547
Calcinosis Associate 35398599
Choroidal Neovascularization Associate 23523162
Chronic Kidney Disease Mineral and Bone Disorder Associate 40414211
Collagen Diseases Associate 32879092
Complement Component 3 Deficiency Autosomal Recessive Associate 21114651, 28729648
Complement Factor H Deficiency Associate 21566112, 24067434, 26432903, 28729035, 29483359, 34566977, 37916369
Complement Factor I Deficiency Associate 21566112