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Gene

nbeal2

ID
ZDB-GENE-100922-283
Name
neurobeachin-like 2
Symbol
nbeal2 Nomenclature History
Previous Names
  • si:ch211-32j10 (1)
Type
protein_coding_gene
Location
Chr: 16 Mapping Details/Browsers
Description
Acts upstream of or within platelet formation. Predicted to be located in endoplasmic reticulum. Human ortholog(s) of this gene implicated in gray platelet syndrome. Orthologous to human NBEAL2 (neurobeachin like 2).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
No data available
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
1 Figure from Albers et al., 2011
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With nbeal2 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
gray platelet syndrome Alliance Gray platelet syndrome 139090
Associated With nbeal2 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR000409 BEACH domain
Domain IPR017986 WD40-repeat-containing domain
Domain IPR023362 PH-BEACH domain
Domain IPR031570 Domain of unknown function DUF4704
Family IPR026916 Neurobeachin-like protein 2
Homologous_superfamily IPR013320 Concanavalin A-like lectin/glucanase domain superfamily
Homologous_superfamily IPR016024 Armadillo-type fold
Homologous_superfamily IPR036322 WD40-repeat-containing domain superfamily
Homologous_superfamily IPR036372 BEACH domain superfamily
Repeat IPR001680 WD40 repeat
Domain Details Per Protein
Protein Length Armadillo-type fold BEACH domain BEACH domain superfamily Concanavalin A-like lectin/glucanase domain superfamily Domain of unknown function DUF4704 Neurobeachin-like protein 2 PH-BEACH domain WD40 repeat WD40-repeat-containing domain WD40-repeat-containing domain superfamily
UniProtKB:E7FAW3 2801
UniProtKB:A0A0R4IET2 2788
UniProtKB:A0A0R4IH51 2707
UniProtKB:A0A2U3TWC5 2787
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