Gene

afg3l2

ID
ZDB-GENE-070912-46
Name
AFG3-like AAA ATPase 2
Symbol
afg3l2 Nomenclature History
Previous Names
  • si:ch211-12e1.4 (1)
Type
protein_coding_gene
Location
Chr: 2 Mapping Details/Browsers
Description
Predicted to have ATP binding activity; peptidase activity; and zinc ion binding activity. Predicted to be involved in mitochondrial protein processing; mitochondrion organization; and protein-containing complex assembly. Predicted to localize to mitochondrial inner membrane. Human ortholog(s) of this gene implicated in optic atrophy 12; spastic ataxia; spastic ataxia 5; and spinocerebellar ataxia type 28. Orthologous to human AFG3L2 (AFG3 like matrix AAA peptidase subunit 2).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
No data available
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
Sequence Targeting Reagents
Human Disease
Associated With afg3l2 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
optic atrophy 12 Alliance Optic atrophy 12 618977
spastic ataxia 5 Alliance Spastic ataxia 5, autosomal recessive 614487
spinocerebellar ataxia type 28 Alliance Spinocerebellar ataxia 28 610246
Associated With afg3l2 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Conserved_site IPR003960 ATPase, AAA-type, conserved site
Domain IPR000642 Peptidase M41
Domain IPR003593 AAA+ ATPase domain
Domain IPR003959 ATPase, AAA-type, core
Domain IPR011546 Peptidase M41, FtsH extracellular
Domain IPR041569 AAA ATPase, AAA+ lid domain
Family IPR005936 Peptidase, FtsH
Homologous_superfamily IPR027417 P-loop containing nucleoside triphosphate hydrolase
Homologous_superfamily IPR037219 Peptidase M41-like
Domain Details Per Protein
Protein Length AAA ATPase, AAA+ lid domain AAA+ ATPase domain ATPase, AAA-type, conserved site ATPase, AAA-type, core Peptidase, FtsH Peptidase M41 Peptidase M41, FtsH extracellular Peptidase M41-like P-loop containing nucleoside triphosphate hydrolase
UniProtKB:A9JRG9 800
Transcripts
Genome Browsers
No data available
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations