Gene

si:ch211-260e23.8

ID
ZDB-GENE-141216-116
Name
si:ch211-260e23.8
Symbol
si:ch211-260e23.8 Nomenclature History
Previous Names
  • c19orf12b3 (1)
Type
protein_coding_gene
Location
Chr: 7 Mapping Details/Browsers
Description
Human ortholog(s) of this gene implicated in hereditary spastic paraplegia 43 and neurodegeneration with brain iron accumulation 4. Orthologous to human C19orf12 (chromosome 19 open reading frame 12).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
3 figures from Mignani et al., 2020
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
Sequence Targeting Reagents
Human Disease
Associated With si:ch211-260e23.8 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
hereditary spastic paraplegia 43 Alliance ?Spastic paraplegia 43, autosomal recessive 615043
neurodegeneration with brain iron accumulation 4 Alliance Neurodegeneration with brain iron accumulation 4 614298
Associated With si:ch211-260e23.8 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Family IPR033369 Protein C19orf12
Domain Details Per Protein
Protein Length Protein C19orf12
UniProtKB:A0A8M1RM27 143
Transcripts
Genome Browsers
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