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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 (Neurobeachin) is a Protein Coding gene. Diseases associated with NBEA include Cerebellar, Ocular, Craniofacial, And Genital Syndrome and Autism. Gene Ontology (GO) annotations related to this gene include binding and phospholipid binding. An important paralog of this gene is LRBA.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH13J034941 | Promoter/Enhancer | 1.9 | EPDnew Ensembl ENCODE CraniofacialAtlas | 606.9 | +0.8 | 831 | 4.2 | PRDM10 KDM1A LARP7 PRDM1 ZNF143 ZIC2 RBFOX2 POLR2A PATZ1 ZNF501 | NBEA ENSG00000261728 piR-37972-153 MAB21L1 | |
GH13J034913 | Enhancer | 0.7 | Ensembl ENCODE | 11.5 | -27.0 | -26970 | 5.4 | TEAD4 REST KDM1A YY1 SPI1 ETS1 SIN3A ZNF143 MIER2 NANOG | NBEA ENSG00000273886 ENSG00000261728 | |
GH13J035198 | Enhancer | 0.8 | VISTA UCNEbase | 10.4 | +256.9 | 256939 | 2.1 | POLR2A | NBEA SCAND3P1 lnc-RFC3-11 HSALNG0096345 MAB21L1 | |
GH13J034968 | Enhancer | 0.7 | Ensembl ENCODE | 11.3 | +25.9 | 25931 | 0.4 | PRDM1 ZNF341 OSR2 ZNF189 ZNF335 PRDM4 ZNF366 ZFP37 SP7 | NBEA piR-37972-153 MAB21L1 | |
GH13J034155 | Enhancer | 1 | ENCODE dbSUPER | 6 | -785.6 | -785631 | 3.2 | CREB1 PRDM10 ZNF629 ZNF692 STAT3 PRDM1 RFX1 PATZ1 ZNF501 SCRT2 | lnc-STARD13-7 ENSG00000199196 NBEA lnc-STARD13-6 RFC3 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IEA | -- |
GO:0019901 | protein kinase binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005802 | trans-Golgi network | IEA,ISS | -- |
GO:0005829 | cytosol | IEA,ISS | -- |
GO:0005886 | plasma membrane | IEA,ISS | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0008104 | protein localization | IEA | -- |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | NBEA 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | NBEA 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | NBEA 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | NBEA 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | NBEA 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Nbea 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | RGD1562629 30 |
|
||
Chicken (Gallus gallus) |
Aves | NBEA 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | nbea 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | nbeaa 31 |
|
OneToMany | |
nbeab 31 |
|
OneToMany | |||
LOC565885 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | rg 30 31 |
|
OneToMany | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP000017 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | sel-2 30 31 |
|
OneToMany | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | BPH1 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.9799 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 13 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
636250 | Likely Pathogenic: NBEA-related developmental delay and generalized epilepsy | 35,309,588(+) | G/A | MISSENSE_VARIANT | |
666336 | Likely Pathogenic: Scrotal hypoplasia | 35,475,401(+) | G/GC | FRAMESHIFT_VARIANT,INTRON_VARIANT | |
691451 | Uncertain Significance: Pyloric stenosis; Esophageal atresia | 34,943,031(+) | C/T | MISSENSE_VARIANT | |
710184 | Benign: not provided | 35,649,646(+) | A/G | INTRON_VARIANT | |
713517 | Benign: not provided | 35,665,194(+) | G/C | INTRON_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
cerebellar, ocular, craniofacial, and genital syndrome |
|
|
autism |
|
|
combined oxidative phosphorylation deficiency 9 |
|
|
pervasive developmental disorder |
|
|