Identity
HGNC
LOCATION
13q13.3
LOCUSID
ALIAS
BCL8B,LYST2,NEDEGE
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 26960
MIM: 604889
HGNC: 7648
Ensembl: ENSG00000172915
Variants:
dbSNP: 26960
ClinVar: 26960
TCGA: ENSG00000172915
COSMIC: NBEA
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000172915 | ENST00000310336 | F5GXV7 |
| ENSG00000172915 | ENST00000379939 | Q5T321 |
| ENSG00000172915 | ENST00000400445 | Q8NFP9 |
| ENSG00000172915 | ENST00000629018 | A0A0D9SF28 |
Expression (GTEx)
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA443890 | Diabetes Mellitus, Type 2 | Disease | ClinicalAnnotation | associated | PD | 29650774 | |
| PA447321 | Depressive Disorder, Major | Disease | ClinicalAnnotation | associated | PD | ||
| PA450395 | metformin | Chemical | ClinicalAnnotation | associated | PD | 29650774 | |
| PA452229 | antidepressants | Chemical | ClinicalAnnotation | associated | PD |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 33692494 | 2021 | Familial paroxysmal kinesigenic dyskinesia with a novel missense variant (Arg2866Trp) in NBEA. | 0 |
| 33692494 | 2021 | Familial paroxysmal kinesigenic dyskinesia with a novel missense variant (Arg2866Trp) in NBEA. | 0 |
| 31277774 | 2019 | Genome-wide Association Study for Tumour Stage, Grade, Size, and Age at Diagnosis of Non-muscle-invasive Bladder Cancer. | 8 |
| 31277774 | 2019 | Genome-wide Association Study for Tumour Stage, Grade, Size, and Age at Diagnosis of Non-muscle-invasive Bladder Cancer. | 8 |
| 30269351 | 2018 | NBEA: Developmental disease gene with early generalized epilepsy phenotypes. | 22 |
| 30269351 | 2018 | NBEA: Developmental disease gene with early generalized epilepsy phenotypes. | 22 |
| 25451450 | 2015 | Genome wide association study identifies variants in NBEA associated with migraine in bipolar disorder. | 6 |
| 25451450 | 2015 | Genome wide association study identifies variants in NBEA associated with migraine in bipolar disorder. | 6 |
| 22438821 | 2012 | Neurobeachin, a regulator of synaptic protein targeting, is associated with body fat mass and feeding behavior in mice and body-mass index in humans. | 20 |
| 22745750 | 2012 | Synapse associated protein 102 (SAP102) binds the C-terminal part of the scaffolding protein neurobeachin. | 17 |
| 22869583 | 2012 | Frequent PVT1 rearrangement and novel chimeric genes PVT1-NBEA and PVT1-WWOX occur in multiple myeloma with 8q24 abnormality. | 52 |
| 22438821 | 2012 | Neurobeachin, a regulator of synaptic protein targeting, is associated with body fat mass and feeding behavior in mice and body-mass index in humans. | 20 |
| 22745750 | 2012 | Synapse associated protein 102 (SAP102) binds the C-terminal part of the scaffolding protein neurobeachin. | 17 |
| 22869583 | 2012 | Frequent PVT1 rearrangement and novel chimeric genes PVT1-NBEA and PVT1-WWOX occur in multiple myeloma with 8q24 abnormality. | 52 |
| 19086053 | 2009 | Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment. | 39 |
Citation
Dessen P
NBEA (neurobeachin)
Atlas Genet Cytogenet Oncol Haematol. 2007-02-01
Online version: http://atlasgeneticsoncology.org/gene/46498/nbea
