Gene

cfh

ID
ZDB-GENE-050208-661
Name
complement factor H
Symbol
cfh Nomenclature History
Previous Names
  • im:7147412
  • si:ch211-207o17.2
Type
protein_coding_gene
Location
Chr: 22 Mapping Details/Browsers
Description
Predicted to enable fumarate hydratase activity. Is expressed in several structures, including digestive system; eye; fin; gill; and heart. Human ortholog(s) of this gene implicated in several diseases, including atypical hemolytic-uremic syndrome; eye disease (multiple); hemolytic-uremic syndrome; lupus nephritis; and systemic lupus erythematosus. Orthologous to several human genes including CFH (complement factor H).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
3 figures from 3 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Allele Type Localization Consequence Mutagen Supplier
sa7495Allele with one point mutationUnknownMissenseENU
sa29783Allele with one point mutationUnknownPremature StopENU
sa29784Allele with one point mutationUnknownSplice SiteENU
1 - 3 of 3
Show
Sequence Targeting Reagents
No data available
Human Disease
Associated With cfh Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
age related macular degeneration 4 Alliance {Macular degeneration, age-related, 4} 610698
basal laminar drusen Alliance Basal laminar drusen 126700
Complement factor H deficiency 609814
{Hemolytic uremic syndrome, atypical, susceptibility to, 1} 235400
1 - 4 of 4
Associated With cfh Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR000436 Sushi/SCR/CCP domain
Family IPR051503 Complement System Regulators and Virion Entry Mediators
Homologous_superfamily IPR035976 Sushi/SCR/CCP superfamily
1 - 3 of 3
Domain Details Per Protein
Protein Additional Resources Length Complement System Regulators and Virion Entry Mediators Sushi/SCR/CCP domain Sushi/SCR/CCP superfamily
UniProtKB:E2FHP4 InterPro 901
1 - 1 of 1
Transcripts
Genome Browsers
Genome Build: GRCz11Chromosome: 22
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA cfh-201 (1) Ensembl 708 nt
mRNA cfh-202 (1) Ensembl 1,838 nt
mRNA cfh-203 (1) Ensembl 3,412 nt
mRNA cfh-204 (1) Ensembl 2,997 nt
1 - 4 of 4
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
No data available
Marker Relationships
Relationship Marker Type Marker Accession Numbers Citations
Contained inBACCH211-207O17ZFIN Curated Data
EncodesESTIMAGE:7147412Thisse et al., 2004
1 - 2 of 2
Show
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Species Symbol Chromosome Accession # Evidence
HumanCFH1
Amino acid sequence comparison (1)
Conserved genome location (synteny) (1)
Citations
1 - 9 of 9
Show