SRGAP3 (SLIT-ROBO Rho GTPase activating protein 3)

2012-11-01  

Identity

HGNC
SRGAP3
LOCATION
3p25.3
LOCUSID
9901
ALIAS
ARHGAP14,MEGAP,SRGAP2,WRP
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 9901
MIM: 606525
HGNC: 19744
Ensembl: ENSG00000196220

Variants:

dbSNP: 9901
ClinVar: 9901
TCGA: ENSG00000196220
COSMIC: SRGAP3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000196220ENST00000360413O43295
ENSG00000196220ENST00000383836O43295
ENSG00000196220ENST00000618999A0A087WZH4

Expression (GTEx)

0
10
20
30
40
50
60
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Axon guidanceKEGGko04360
Axon guidanceKEGGhsa04360
Signal TransductionREACTOMER-HSA-162582
Signaling by Rho GTPasesREACTOMER-HSA-194315
Rho GTPase cycleREACTOMER-HSA-194840
Developmental BiologyREACTOMER-HSA-1266738
Axon guidanceREACTOMER-HSA-422475
Signaling by Robo receptorREACTOMER-HSA-376176
Inactivation of Cdc42 and RacREACTOMER-HSA-428543

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
121950142002The novel Rho-GTPase activating gene MEGAP/ srGAP3 has a putative role in severe mental retardation.62
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
202374962010New genetic associations detected in a host response study to hepatitis B vaccine.27
167300012006MEGAP impedes cell migration via regulating actin and microtubule dynamics and focal complex formation.21
197606232009Microarray based analysis of 3p25-p26 deletions (3p- syndrome).20
200355032009Single-cell expression profiling of dopaminergic neurons combined with association analysis identifies pyridoxal kinase as Parkinson's disease gene.14
231084062013A tumor suppressor role for srGAP3 in mammary epithelial cells.12
258194362015A single PXXP motif in the C-terminal region of srGAP3 mediates binding to multiple SH3 domains.7
127367242003FNBP2 gene on human chromosome 1q32.1 encodes ARHGAP family protein with FCH, FBH, RhoGAP and SH3 domains.3
194336732009No association between SRGAP3/MEGAP haploinsufficiency and mental retardation.2

Citation

Dessen P

SRGAP3 (SLIT-ROBO Rho GTPase activating protein 3)

Atlas Genet Cytogenet Oncol Haematol. 2012-11-01

Online version: http://atlasgeneticsoncology.org/gene/53052/srgap3