ARHGAP29 (Rho GTPase activating protein 29)

2006-10-01  

Identity

HGNC
ARHGAP29
LOCATION
1p22.1
LOCUSID
9411
ALIAS
PARG1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 9411
MIM: 610496
HGNC: 30207
Ensembl: ENSG00000137962

Variants:

dbSNP: 9411
ClinVar: 9411
TCGA: ENSG00000137962
COSMIC: ARHGAP29

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000137962ENST00000260526Q52LW3
ENSG00000137962ENST00000370217Q52LW3
ENSG00000137962ENST00000552844F8VWZ8

Expression (GTEx)

0
5
10
15
20
25
30
35
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
Signal TransductionREACTOMER-HSA-162582
Signaling by Rho GTPasesREACTOMER-HSA-194315
Rho GTPase cycleREACTOMER-HSA-194840

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid 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
285381702017YAP Regulates Actin Dynamics through ARHGAP29 and Promotes Metastasis.45
237984372013Rasip1 mediates Rap1 regulation of Rho in endothelial barrier function through ArhGAP29.41
230081502012Expression and mutation analyses implicate ARHGAP29 as the etiologic gene for the cleft lip with or without cleft palate locus identified by genome-wide association on chromosome 1p22.36
259636562015Rap1 Spatially Controls ArhGAP29 To Inhibit Rho Signaling during Endothelial Barrier Regulation.23
174886562007Promoter methylation of PARG1, a novel candidate tumor suppressor gene in mantle-cell lymphomas.13
280292202017Exome sequencing provides additional evidence for the involvement of ARHGAP29 in Mendelian orofacial clefting and extends the phenotypic spectrum to isolated cleft palate.9
282871012017Identification of common non-coding variants at 1p22 that are functional for non-syndromic orofacial clefting.9
251636442014Further evidence suggesting a role for variation in ARHGAP29 variants in nonsyndromic cleft lip/palate.7
199110112010Mutation of ARHGAP9 in patients with coronary spastic angina.5
273501712017Impact of rare variants in ARHGAP29 to the etiology of oral clefts: role of loss-of-function vs missense variants.5

Citation

Dessen P

ARHGAP29 (Rho GTPase activating protein 29)

Atlas Genet Cytogenet Oncol Haematol. 2006-10-01

Online version: http://atlasgeneticsoncology.org/gene/43141/arhgap29