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
3 figures from 3 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
Allele Type Localization Consequence Mutagen Supplier
sa13719Allele with one point mutationUnknownPremature StopENU
sa34292Allele with one point mutationUnknownPremature StopENU
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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
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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 IPR050405 Intermediate filament structural protein
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Domain Details Per Protein
Protein Length Intermediate filament head, DNA-binding domain Intermediate filament protein, conserved site Intermediate filament, rod domain Intermediate filament structural protein Keratin, type I
UniProtKB:Q29RE8 579
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Transcripts
Genome Browsers
Genome Build: GRCz11Chromosome: 8
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA neflb-201 (1) Ensembl 2,221 nt
mRNA neflb-202 (1) Ensembl 3,209 nt
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Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
No data available
Marker Relationships
Relationship Marker Type Marker Accession Numbers Citations
Contained inBACCH73-347J20ZFIN Curated Data
Contained inBACCH211-255G12ZFIN Curated Data
EncodescDNAMGC:136626ZFIN Curated Data
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Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Species Symbol Chromosome Accession # Evidence
HumanNEFL8
Amino acid sequence comparison (2)
Conserved genome location (synteny) (2)
MouseNefl14
Conserved genome location (synteny) (1)
Phylogenetic tree (1)
Amino acid sequence comparison (3)
Citations
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