Gene

nefla

ID
ZDB-GENE-091117-1
Name
neurofilament light chain a
Symbol
nefla Nomenclature History
Previous Names
  • si:ch211-222n4.10 (1)
Type
protein_coding_gene
Location
Chr: 21 Mapping Details/Browsers
Description
Predicted to localize to intermediate filament. Is expressed in nervous system. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease (multiple); amyotrophic lateral sclerosis; and invasive ductal carcinoma. Orthologous to human NEFL (neurofilament light).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
2 figures from Wang et al., 2018
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
1 Figure from Wang et al., 2018
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With nefla Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Charcot-Marie-Tooth disease, dominant intermediate G 617882
Charcot-Marie-Tooth disease, type 1F 607734
Charcot-Marie-Tooth disease, type 2E 607684
Associated With nefla Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Conserved_site IPR018039 Intermediate filament protein, conserved site
Domain IPR039008 Intermediate filament, rod domain
Domain Details Per Protein
Protein Length Intermediate filament protein, conserved site Intermediate filament, rod domain
UniProtKB:A0A8M9PUK6 712
Transcripts
Genome Browsers
Type Name Annotation Method Length (nt) Analysis
mRNA nefla-201 (1) Ensembl 2798 nt
mRNA nefla-202 (1) Havana 1848 nt
mRNA nefla-203 (1) Ensembl 2718 nt
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