Gene

c3b.2

ID
ZDB-GENE-030131-3063
Name
complement component c3b, tandem duplicate 2
Symbol
c3b.2 Nomenclature History
Previous Names
  • c3.8 (1)
  • si:ch211-140f21.1
  • wu:fc26b08
Type
protein_coding_gene
Location
Chr: 22 Mapping Details/Browsers
Description
Predicted to enable serine-type endopeptidase inhibitor activity. Predicted to be involved in nervous system development. Predicted to act upstream of or within negative regulation of peptidase activity. Predicted to be located in extracellular space. Is expressed in brain; gill; liver; pleuroperitoneal region; and post-vent region. Human ortholog(s) of this gene implicated in several diseases, including complement deficiency (multiple); macular degeneration (multiple); paroxysmal nocturnal hemoglobinuria; sickle cell anemia; and silicosis. Orthologous to human C3 (complement C3).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
2 figures from 2 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
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
sa30731Allele with one point mutationUnknownPremature StopENU
sa32403Allele with one point mutationUnknownSplice SiteENU
sa43859Allele with one point mutationUnknownSplice SiteENU
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Sequence Targeting Reagents
Targeting Reagent Created Alleles Citations
MO1-c3bN/AForn-Cuní et al., 2014
MO2-c3bN/AForn-Cuní et al., 2014
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Human Disease
Associated With c3b.2 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
age related macular degeneration 9 Alliance {Macular degeneration, age-related, 9} 611378
complement component 3 deficiency Alliance C3 deficiency 613779
{Hemolytic uremic syndrome, atypical, susceptibility to, 5} 612925
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Associated With c3b.2 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Conserved_site IPR047565 Alpha-macroglobulin-like, thiol-ester bond-forming region
Domain IPR000020 Anaphylatoxin/fibulin
Domain IPR001134 Netrin domain
Domain IPR001599 Alpha-2-macroglobulin
Domain IPR002890 Macroglobulin domain
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Domain Details Per Protein
Protein Additional Resources Length Alpha-2-macroglobulin Alpha-2-macroglobulin, bait region domain Alpha-2-macroglobulin/Complement system Alpha-macroglobulin-like, TED domain Alpha-macroglobulin-like, thiol-ester bond-forming region Alpha-macroglobulin, receptor-binding Alpha-macroglobulin, receptor-binding domain superfamily Anaphylatoxin, complement system Anaphylatoxin/fibulin Complement C3/4/5, macroglobulin domain MG1 Complement component 3, CUB domain, second segment Immunoglobulin E-set Immunoglobulin-like fold Macroglobulin domain Macroglobulin domain MG3 Macroglobulin domain MG4 Netrin domain Netrin module, non-TIMP type Terpenoid cyclases/protein prenyltransferase alpha-alpha toroid Tissue inhibitor of metalloproteinases-like, OB-fold
UniProtKB:A5PMP8 InterPro 1690
UniProtKB:A0A8M3AN56 InterPro 1769
UniProtKB:A0A8M2BLP7 InterPro 1747
UniProtKB:A8KB97 InterPro 323
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Transcripts
Genome Browsers
Genome Build: GRCz11Chromosome: 22
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA c3b.2-201 (1) Ensembl 5,732 nt
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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 inBACCH211-140F21ZFIN Curated Data
EncodesESTfc26b08
EncodescDNAMGC:171869ZFIN Curated Data
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Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Species Symbol Chromosome Accession # Evidence
HumanC319
Amino acid sequence comparison (1)
Conserved genome location (synteny) (1)
Citations
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