Gene

spg11

ID
ZDB-GENE-101017-1
Name
SPG11 vesicle trafficking associated, spatacsin
Symbol
spg11 Nomenclature History
Previous Names
  • spatacsin (1)
Type
protein_coding_gene
Location
Chr: 25 Mapping Details/Browsers
Description
Involved in axonogenesis; swimming behavior; and thigmotaxis. Predicted to localize to several cellular components, including axon; dendrite; and synapse. Is expressed in brain and notochord. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease axonal type 2X; amyotrophic lateral sclerosis type 5; and hereditary spastic paraplegia 11. Orthologous to human SPG11 (SPG11 vesicle trafficking associated, spatacsin).
Genome Resources
Note
None
Expression
All Expression Data
2 figures from 2 publications
Cross-Species Comparison
High Throughput Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
6 figures from 3 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With spg11 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
amyotrophic lateral sclerosis type 5 Alliance Amyotrophic lateral sclerosis 5, juvenile 602099
Charcot-Marie-Tooth disease axonal type 2X Alliance Charcot-Marie-Tooth disease, axonal, type 2X 616668
hereditary spastic paraplegia 11 Alliance Spastic paraplegia 11, autosomal recessive 604360
Associated With spg11 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR028107 Spatacsin, C-terminal domain
Family IPR028103 Spatacsin
Domain Details Per Protein
Protein Length Spatacsin Spatacsin, C-terminal domain
UniProtKB:F1R072 1612
UniProtKB:D4HMK9 1248
UniProtKB:D4HMK8 2379
UniProtKB:A0A0H2UKL6 1211
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
Ensembl Gene Tree
Citations