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
Involved in platelet formation. Predicted to localize to 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 IPR023362 PH-BEACH domain
Domain IPR031570 Neurobeachin/BDCP, DUF4704
Domain IPR046851 Neurobeachin, beta-propeller domain
Domain IPR046852 Neurobeachin, alpha-solenoid region
Homologous_superfamily IPR011989 Armadillo-like helical
Homologous_superfamily IPR011993 PH-like domain superfamily
Homologous_superfamily IPR013320 Concanavalin A-like lectin/glucanase domain superfamily
Homologous_superfamily IPR015943 WD40/YVTN repeat-like-containing 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-like helical Armadillo-type fold BEACH domain BEACH domain superfamily Concanavalin A-like lectin/glucanase domain superfamily Neurobeachin, alpha-solenoid region Neurobeachin/BDCP, DUF4704 Neurobeachin, beta-propeller domain PH-BEACH domain PH-like domain superfamily WD40 repeat WD40-repeat-containing domain superfamily WD40/YVTN repeat-like-containing domain superfamily
UniProtKB:E7FAW3 2801
UniProtKB:A0A8M9Q1W1 2800
UniProtKB:A0A8M3B1J9 2831
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