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Protein Coding Gene : Nbea neurobeachin

Primary Identifier  MGI:1347075 Organism  mouse, laboratory
Chromosome  3 NCBI Gene Number  26422
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0)

Enables protein kinase binding activity. Involved in regulation of neurotransmitter receptor localization to postsynaptic specialization membrane and synapse organization. Acts upstream of or within hematopoietic stem cell homeostasis and protein localization. Located in several cellular components, including cytosol; nucleus; and trans-Golgi network. Is active in glutamatergic synapse. Is expressed in several structures, including brain; genitourinary system; gut; neural tube; and sensory organ. Used to study autism spectrum disorder. Orthologous to human NBEA (neurobeachin).
PHENOTYPE: Mice homozygous for a gene trapped allele or transgene insertion die shortly after birth, are cyanotic, and exhibit no response to tactile stimuli, no spontaneous movement, and impaired CNS synaptic transmission. [provided by MGI curators]
  • synonyms:
  • neurobeachin,
  • Nbea,
  • mKIAA1544

Features --> Cross References

Genome

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0 Canonical

0 CDSs

0 Exons

0 Genomic Clusters

2 Involved In Mutations

0 Strain

0 Transcripts

0 Transgenic Expressors

0 UTRs

Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

Canonical gene --> Strain-specific IDs, biotypes, and locations

Canonical gene --> Transcripts in specific strains.

Features --> Overlapping features

Proteins

Gene --> Proteins

Function

Mouse features --> Functions (GO terms)

Homology

Genes --> Homologs

Interactions

0 Pathways

0 Targeted By

Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Disease

Mouse features --> Human diseases

Literature

Mouse features --> Publications

 

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0 Driver For