SYNGAP1

GENERAL INFORMATION

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Gene name

SYNGAP1

Gene description

Synaptic Ras GTPase activating protein 1

Protein class

Disease related genes
Plasma proteins
Predicted intracellular proteins
RAS pathway related proteins

Predicted localization

Intracellular

Number of transcripts

4
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Mixed
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Cytoplasmic expression in a subset of tissues including lung macrophages, neuronal cells, heart and skeletal muscle.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 2 antibodies.
HPA038373 , HPA038374
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Heart muscle

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Mixed

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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Gene name

SYNGAP1 (HGNC Symbol)

Synonyms

KIAA1938, RASA5, SYNGAP

Description

Synaptic Ras GTPase activating protein 1 (HGNC Symbol)

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]

Chromosome

6

Cytoband

p21.32

Chromosome location (bp)

33420070 - 33453689

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000197283 (version 78.38)

Entrez gene

8831

UniProt

Q96PV0 (UniProt - Evidence at protein level)

neXtProt

NX_Q96PV0

Antibodypedia

SYNGAP1 antibodies


PROTEIN BROWSER

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ENST00000418600
 
ENST00000428982
 
ENST00000449372
 
ENST00000486399
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

SYNGAP1-001 ENSP00000403636
ENST00000418600
Q96PV0
Show all »
Show » Show » 1343 148.3 No 0
SYNGAP1-003 ENSP00000412475
ENST00000428982
Q96PV0
Show all »
Show » Show » 1284 140.9 No 0
SYNGAP1-007 ENSP00000478832
ENST00000486399
Show » 76 8.9 No 0
SYNGAP1-009 ENSP00000416519
ENST00000449372
B7ZCA0
Show all »
Show » Show » 1279 141.3 No 0