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GENE AND PROTEIN SUMMARY

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Gene name

NBEA

Description

neurobeachin

Protein class

Mapped to UniProt SWISS-PROT, Potential transmembrane proteins

Protein evidence

High

Entrez gene 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]

External links

Ensembl, UniProt, Entrez gene, neXtProt, Antibodypedia

No of splice variants

6 in total
4 with predicted TM region
0 with predicted signal peptide

SUBCELLULAR LOCATION SUMMARY

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Main location(s)

Nucleus but not nucleoli, Cytoplasm, Centrosome

Additional location(s)

 

Staining summary

Staining of centrosome, nucleus and cytoplasm in A-431.

Reliability (Single)

Antibodies in assay

HPA039730
 

NORMAL TISSUE & ORGAN SUMMARY

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Expression summary

Many normal cells displayed moderate cytoplasmic expression, most abundant in neurons and islet cells of Langerhans.

Tissue specificity

Expressed in 46 out of 77 cell types

Reliability (APE)

Medium

Antibodies in assay

HPA039730, HPA040385
 

Organ

No of cell types

Protein expression

CNS (brain) 11
Hematopoietic (blood) 8
Liver and pancreas 5
Digestive (GI-tract) 12
Respiratory (lung) 3
Cardiovascular 1
Female tissues 12
Placenta 2
Male tissues 5
Urinary tract (kidney) 3
Skin and soft tissues 12
Endocrine tissues 3

Level of annotated protein expression





High
Medium
Low
None

CANCER TISSUE SUMMARY

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Staining summary

Antibody staining in 32% of the cancers

Antibodies in assay

HPA039730, HPA040385
 

Tissue

Cancer staining

Protein
expression of
normal tissue

Breast cancer
 
Carcinoid
 
Cervical cancer
 
 
Colorectal cancer
 
 
Endometrial cancer
 
 
Glioma
 
Head and neck cancer
 
 
Liver cancer
 
 
Lung cancer
 
 
Lymphoma
 
 
 

Tissue

Cancer staining

Protein
expression of
normal tissue

Melanoma
 
Ovarian cancer
 
Pancreatic cancer
 
Prostate cancer
 
Renal cancer
 
Skin cancer
 
Stomach cancer
 
 
Testis cancer
 
Thyroid cancer
 
Urothelial cancer
 

Level of antibody staining





Strong
Moderate
Weak
Negative

CELL LINE SUMMARY

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RNA evidence

Low
 

Cell line

Cell origin

RNA abundance

IH staining

IF intensity

HPA039730

HPA040385

HPA039730

A-431 Skin Not detected
Weak
A-549 Lung Low
CACO-2 Colon Low
HEK 293 Embryonal kidney Low
HeLa Cervix Low
Hep-G2 Liver Low
MCF-7 Pleural effusion Low
PC-3 Bone marrow Low
RT-4 Urinary bladder Low
U-2 OS Bone Low
U-251 MG Brain Low

ANTIBODY SUMMARY

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Antibody

Clonality

Validation

HPA039730 pAb
HPA040385 pAb