• Gene id: 10878

Gene Summary

• Gene Symbol: CFHR3   Gene   UCSC   Ensembl
• Aliases: CFHL3, DOWN16, FHR-3, FHR3, HLF4
• Gene name: complement factor H related 3
• Alternate names: complement factor H-related protein 3, H factor-like 4, H factor-like protein 3,
• Gene location: 1q31.3 (196774799: 196795406)     Exons: 3     NC_000001.11
• Gene summary(Entrez): 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
• OMIM: 605336

SNPs

rs605059

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000017.11   g.42554888G>A
NC_000017.11   g.42554888G>C
NC_000017.11   g.42554888G>T
NC_000017.10   g.40706906G>A
NC_000017.10   g.40706906G>C
NC_000017.10   g.40706906G>T
NM_000413.3   c.937G>A
NM_000413.3   c.937G>C
NM_000413.3   c.937G>T
NM_000413.4   c.937G>A
NM_0  

Protein Summary

• Protein general information: Q02985  
  • Name: Complement factor H related protein 3 (FHR 3) (DOWN16) (H factor like protein 3)
  • Length: 330  
  • Mass: 37323
  • Tissue specificity: Expressed by the liver and secreted in plasma.
• Sequence:

  MLLLINVILTLWVSCANGQVKPCDFPDIKHGGLFHENMRRPYFPVAVGKYYSYYCDEHFETPSGSYWDYIHCTQN
  GWSPAVPCLRKCYFPYLENGYNQNYGRKFVQGNSTEVACHPGYGLPKAQTTVTCTEKGWSPTPRCIRVRTCSKSD
  IEIENGFISESSSIYILNKEIQYKCKPGYATADGNSSGSITCLQNGWSAQPICINSSEKCGPPPPISNGDTTSFL
  LKVYVPQSRVEYQCQPYYELQGSNYVTCSNGEWSEPPRCIHPCIITEENMNKNNIKLKGRSDRKYYAKTGDTIEF
  MCKLGYNANTSILSFQAVCREGIVEYPRCE

• Structural information:
  • Protein Domains: (22..8-)
    (/note="Sushi-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00302-)
    (85..14-)
    (/note="Sushi-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00302-)
    (144..20-)
    (/note="Sushi-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00302-)
    (-)
  • Interpro: IPR035976  IPR000436  
  • Prosite: PS50923
  • CDD: cd00033
  • STRING: ENSP00000356395
• Other Databases: GeneCards:  CFHR3  Malacards:  CFHR3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005576	extracellular region	IEA	cellular component
GO:0005615	extracellular space	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0072562	blood microparticle	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04610	Complement and coagulation cascades

Diseases

Associated diseases	References
Age-related macular degeneration	KEGG:H00821
Atypical hemolytic uremic syndrome	KEGG:H01434
Age-related macular degeneration	KEGG:H00821
Atypical hemolytic uremic syndrome	KEGG:H01434
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)