Gene

neflb

ID
ZDB-GENE-060312-44
Name
neurofilament light chain b
Symbol
neflb Nomenclature History
Previous Names
  • nefl (1)
  • zgc:136626 (1)
Type
protein_coding_gene
Location
Chr: 8 Mapping Details/Browsers
Description
Predicted to have structural molecule activity. Involved in hindbrain development; negative regulation of neuron apoptotic process; and spinal cord development. Predicted to localize to neurofilament. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease (multiple); amyotrophic lateral sclerosis; and invasive ductal carcinoma. Is expressed in nervous system. Orthologous to human NEFL (neurofilament light).
Genome Resources
Note
neflb exhibits a splice variant specific phenotype on motor neuron development as described in Demy et al, 2020.
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
5 figures from 2 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With neflb Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Charcot-Marie-Tooth disease dominant intermediate G Alliance Charcot-Marie-Tooth disease, dominant intermediate G 617882
Charcot-Marie-Tooth disease type 1F Alliance Charcot-Marie-Tooth disease, type 1F 607734
Charcot-Marie-Tooth disease type 2E Alliance Charcot-Marie-Tooth disease, type 2E 607684
Associated With neflb 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 IPR006821 Intermediate filament head, DNA-binding domain
Domain IPR039008 Intermediate filament, rod domain
Family IPR002957 Keratin, type I
Family IPR027692 Neurofilament light polypeptide
Homologous_superfamily IPR042180 Intermediate filament, rod domain, coil 1B
Domain Details Per Protein
Protein Length Intermediate filament head, DNA-binding domain Intermediate filament protein, conserved site Intermediate filament, rod domain Intermediate filament, rod domain, coil 1B Keratin, type I Neurofilament light polypeptide
UniProtKB:Q4V9J5 503
UniProtKB:A0A0R4IZ96 517
UniProtKB:B0R1B8 579
UniProtKB:Q29RE8 579
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