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GENE AND PROTEIN SUMMARY

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Gene name

SYNGAP1

Description

synaptic Ras GTPase activating protein 1

Protein class

Mapped to UniProt SWISS-PROT, Potential transmembrane proteins

Protein evidence

Medium

Entrez gene summary

The protein encoded by this gene is a major component of the postsynaptic density (PSD), a group of proteins found associated with NMDA receptors at synapses. The encoded protein is phosphorylated by calmodulin-dependent protein kinase II and dephosphorylated by NMDA receptor activation. Defects in this gene are a cause of mental retardation autosomal dominant type 5 (MRD5). [provided by RefSeq, Dec 2009]

External links

Ensembl, UniProt, Entrez gene, neXtProt, Antibodypedia

No of splice variants

5 in total
0 with predicted TM region
0 with predicted signal peptide

SUBCELLULAR LOCATION SUMMARY

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Main location(s)

Nucleus

Additional location(s)

 

Staining summary

Staining of nucleus in U-251 MG and A-431.

Reliability (Single)

Antibodies in assay

HPA038373
 

NORMAL TISSUE & ORGAN SUMMARY

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Staining summary

Strong cytoplasmic positivity, often with a granular pattern was displayed in alveolar macrophages, salivary ducts, gall bladder, thyroid, adrenal cortex, Leydig cells and subset of neuronal cells. Neuropil was distinctly stained. Remaining normal tissues were generally negative.

Tissue specificity

Staining in 21 out of 78 cell types

Reliability (Single)

Antibodies in assay

HPA038373
 

Organ

No of cell types

Antibody staining

CNS (brain) 11
Hematopoietic (blood) 8
Liver and pancreas 5
Digestive (GI-tract) 13
Respiratory (lung) 4
Cardiovascular 1
Female tissues 12
Placenta 1
Male tissues 5
Urinary tract (kidney) 3
Skin and soft tissues 12
Endocrine tissues 3

Level of antibody staining





Strong
Moderate
Weak
Negative

CANCER TISSUE SUMMARY

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Staining summary

Antibody staining in 3% of the cancers

Antibodies in assay

HPA038373
 

Tissue

Cancer staining

Normal tissue
staining

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

Tissue

Cancer staining

Normal tissue
staining

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

High
 

Cell line

Cell origin

RNA abundance

IH staining

IF intensity

 

HPA038373

A-431 Skin Medium

-

Weak
A-549 Lung Low

-

CACO-2 Colon High

-

HEK 293 Embryonal kidney Low

-

HeLa Cervix Medium

-

Hep-G2 Liver Low

-

MCF-7 Pleural effusion Medium

-

PC-3 Bone marrow Medium

-

RT-4 Urinary bladder Medium

-

U-2 OS Bone Medium

-

Negative
U-251 MG Brain Low

-

Weak

ANTIBODY SUMMARY

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Antibody

Clonality

Validation

HPA038373 pAb