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GENE AND PROTEIN SUMMARY

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Gene name

CHRNA7

Description

cholinergic receptor, nicotinic, alpha 7 (neuronal)

Protein class

Mapped to UniProt SWISS-PROT, Potential transmembrane proteins, Potentially secreted proteins, Transporters

Protein evidence

High

Entrez gene summary

The nicotinic acetylcholine receptors (nAChRs) are members of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. The nAChRs are thought to be hetero-pentamers composed of homologous subunits. The proposed structure for each subunit is a conserved N-terminal extracellular domain followed by three conserved transmembrane domains, a variable cytoplasmic loop, a fourth conserved transmembrane domain, and a short C-terminal extracellular region. The protein encoded by this gene forms a homo-oligomeric channel, displays marked permeability to calcium ions and is a major component of brain nicotinic receptors that are blocked by, and highly sensitive to, alpha-bungarotoxin. Once this receptor binds acetylcholine, it undergoes an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. This gene is located in a region identified as a major susceptibility locus for juvenile myoclonic epilepsy and a chromosomal location involved in the genetic transmission of schizophrenia. An evolutionarily recent partial duplication event in this region results in a hybrid containing sequence from this gene and a novel FAM7A gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]

External links

Ensembl, UniProt, Entrez gene, neXtProt, Antibodypedia

No of splice variants

4 in total
3 with predicted TM region
3 with predicted signal peptide

SUBCELLULAR LOCATION SUMMARY

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Main location(s)

Nucleus but not nucleoli

Additional location(s)

Cytoplasm 

Staining summary

Staining of nucleus and cytoplasm in U-251 MG and U-2 OS.

Reliability (Single)

Antibodies in assay

HPA029422
 

NORMAL TISSUE & ORGAN SUMMARY

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Expression summary

General cytoplasmic expression in essentially all cells except in lymphoid cells, CNS and stromal cells.

Tissue specificity

Expressed in 65 out of 82 cell types

Reliability (APE)

Medium

Antibodies in assay

HPA029422, CAB033624
 

Organ

No of cell types

Protein expression

CNS (brain) 11
Hematopoietic (blood) 8
Liver and pancreas 5
Digestive (GI-tract) 13
Respiratory (lung) 4
Cardiovascular 1
Female tissues 13
Placenta 1
Male tissues 5
Urinary tract (kidney) 3
Skin and soft tissues 15
Endocrine tissues 3

Level of annotated protein expression





High
Medium
Low
None

CANCER TISSUE SUMMARY

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Staining summary

Antibody staining in 86% of the cancers

Antibodies in assay

HPA029422, CAB033624
 

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

Medium
 

Cell line

Cell origin

RNA abundance

IH staining

IF intensity

HPA029422

CAB033624

HPA029422

A-431 Skin Not detected
A-549 Lung Low
CACO-2 Colon Not detected
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 Medium
U-2 OS Bone Low
Moderate
U-251 MG Brain Not detected
Weak

ANTIBODY SUMMARY

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Antibody

Clonality

Validation

HPA029422 pAb
CAB033624 mAb