NBEA Chromosome 13
Neurobeachin
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What This Gene Does
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]
Gene Info
Gene Group
"WD repeat domain containing|A-kinase anchoring proteins|BEACH domain containing |Armadillo like helical domain containing"
Locus Type
gene with protein product
Location
13q13.3
Ensembl
ENSG00000172915
Associated Conditions (20)
Inborn genetic diseases
NBEA-related disorder
Clear cell carcinoma of kidney
Thyroid cancer
nonmedullary
1
Melanoma
Cervical cancer
Malignant tumor of urinary bladder
Familial cancer of breast
Neurodevelopmental disorder with or without early-onset generalized epilepsy
Neurodevelopmental disorder
See cases
NBEA-related developmental delay and generalized epilepsy
NBEA-related complex neurodevelopmental disorder
Intellectual disability
Epilepsy
Neurodevelopmental delay
typical paroxysmal kinesigenic dyskinesia
Autism spectrum disorder
Key Variants
RS1054885736
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1363004176
Conflicting classifications of pathogenicity
Health Risk
RS189755961
Conflicting classifications of pathogenicity
NBEA-related disorder, Clear cell carcinoma of kidney, Thyroid cancer
Health Risk
RS200695994
Conflicting classifications of pathogenicity
Health Risk
RS200699050
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with or without early-onset generalized epilepsy, Inborn genetic diseases, Neurodevelopmental disorder with or without early-onset generalized epilepsy
Health Risk
RS201399155
Conflicting classifications of pathogenicity
Inborn genetic diseases, NBEA-related disorder, Neurodevelopmental disorder with or without early-onset generalized epilepsy
Health Risk
RS201478045
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with or without early-onset generalized epilepsy, Inborn genetic diseases, NBEA-related disorder
Health Risk
RS201692550
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with or without early-onset generalized epilepsy, Neurodevelopmental disorder with or without early-onset generalized epilepsy
Health Risk
RS2153082051
Conflicting classifications of pathogenicity
Neurodevelopmental disorder, Neurodevelopmental disorder
Health Risk
RS2503622228
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with or without early-onset generalized epilepsy, Neurodevelopmental disorder with or without early-onset generalized epilepsy
Health Risk
RS2549268527
Conflicting classifications of pathogenicity
Inborn genetic diseases, Neurodevelopmental disorder with or without early-onset generalized epilepsy, Inborn genetic diseases
Health Risk
RS368676008
Conflicting classifications of pathogenicity
Inborn genetic diseases, NBEA-related disorder, Inborn genetic diseases
Health Risk
All Variants (66)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2079516243 | Health Risk | Pathogenic | Neurodevelopmental disorder with or without early-onset generalized epilepsy, Neurodevelopmental disorder with or without early-onset generalized epilepsy |
| RS2085290856 | Health Risk | Pathogenic | Neurodevelopmental disorder with or without early-onset generalized epilepsy, Neurodevelopmental disorder with or without early-onset generalized epilepsy |
| RS2085418293 | Health Risk | Pathogenic | typical paroxysmal kinesigenic dyskinesia, typical paroxysmal kinesigenic dyskinesia |
| RS2152709004 | Health Risk | Pathogenic | — |
| RS2152770696 | Health Risk | Pathogenic | — |
| RS2502249400 | Health Risk | Pathogenic | — |
| RS2502559210 | Health Risk | Pathogenic | — |
| RS2503592299 | Health Risk | Pathogenic | Neurodevelopmental disorder with or without early-onset generalized epilepsy, Neurodevelopmental disorder with or without early-onset generalized epilepsy |
| RS2503626360 | Health Risk | Pathogenic | — |
| RS2503640330 | Health Risk | Pathogenic | Neurodevelopmental disorder with or without early-onset generalized epilepsy, Neurodevelopmental disorder with or without early-onset generalized epilepsy |
| RS2503665263 | Health Risk | Pathogenic | Neurodevelopmental disorder with or without early-onset generalized epilepsy, Neurodevelopmental disorder with or without early-onset generalized epilepsy |
| RS2503844606 | Health Risk | Pathogenic | — |
| RS2504151015 | Health Risk | Pathogenic | Autism spectrum disorder, Autism spectrum disorder |
| RS779780049 | Health Risk | Pathogenic | Intellectual disability, Intellectual disability |
| RS910146888 | Health Risk | Pathogenic | Neurodevelopmental disorder with or without early-onset generalized epilepsy, Neurodevelopmental disorder with or without early-onset generalized epilepsy |
| RS878853169 | Health Risk | Pathogenic/Likely pathogenic | — |