NBEA - neurobeachin Gene

Homo sapiens

Also known as BCL8B; LYST2; NEDEGE

Gene ID: 26960 | Gene type: protein coding

About NBEA

Cytogenetic location: 13q13.3 Genomic coordinates (GRCh38): 13:34,942,270-35,672,736 (from NCBI)

This gene has 58 transcripts (splice variants), 230 orthologues, 7 paralogues and is associated with 112 phenotypes. Broad expression in brain (RPKM 8.2), thyroid (RPKM 2.8) and 20 other tissues.

Summary

This gene encodes a member of a large, diverse group of A-kinase anchor proteins that target the activity of protein kinase A to specific subcellular sites by binding to its type II regulatory subunits. Brain-specific expression and coat protein-like membrane recruitment of a highly similar protein in mouse suggest an involvement in neuronal post-Golgi membrane traffic. Mutations in this gene may be associated with a form of autism. This gene and its expression are frequently disrupted in patients with multiple myeloma. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants may exist, but their full-length nature has not been determined.[provided by RefSeq, Feb 2011]

NBEA Products(4)

mRNA	Protein	Name
NM_001204197.3	NP_001191126.1	neurobeachin isoform 2
NM_001379245.1	NP_001366174.1	neurobeachin isoform 3
NM_001385012.1	NP_001371941.1	neurobeachin isoform 4
NM_015678.5	NP_056493.3	neurobeachin isoform 1

NBEA Protein Structure

Laminin_G_3

DUF1088

PH_BEACH

Beach

WD40

0
500
1000
1500
2000
2500
2946 a.a.

Protein Preferred Names

Protein Names

neurobeachin

lysosomal-trafficking regulator 2

Related Diseases

Diseases

Alias

Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy

NEDEGE

Cerebellar, Ocular, Craniofacial, And Genital Syndrome

COFG

Epilepsy

Epilepsy Syndrome	Epileptic Syndrome
Epilepsies	Symptomatic Epilepsies
Post Traumatic Epilepsy	Traumatic Epilepsy
Traumatic Epileptic	Epilepsy Due To Hippocampal Sclerosis
Epilepsy With Ammon'S Horn Sclerosis	Epilepsy Due To Cortical Dysplasia
Epilepsy Due To Neuronal Migration Disorders

Autosomal Dominant Non-Syndromic Intellectual Disability

Autism

Autistic Disorder	Autism Susceptibility 1
Childhood Autism	Autistic Disorder Of Childhood Onset
Infantile Autism	Kanner'S Syndrome
Autistic

Atrial Septal Defect 1

ASD1	Atrial Heart Septal Defect 1
Asd

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09053	NBEA Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	NBEA	VGNC	VGNC:43632
Mus musculus	NBEA	MGD	MGI:1347075
Bos taurus	NBEA	VGNC	VGNC:31893
Felis catus	NBEA	VGNC	VGNC:68418
Rattus norvegicus	NBEA	RGD	RGD:1562629
Macaca mulatta	NBEA	VGNC	VGNC:106277