PLEKHG4 (pleckstrin homology and RhoGEF domain containing G4)

2015-05-01  

Identity

HGNC
LOCATION
16q22.1
LOCUSID
ALIAS
ARHGEF44,PRTPHN1,SCA4

Other Information

Locus ID:

NCBI: 25894
MIM: 609526
HGNC: 24501
Ensembl: ENSG00000196155

Variants:

dbSNP: 25894
ClinVar: 25894
TCGA: ENSG00000196155
COSMIC: PLEKHG4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000196155ENST00000360461Q58EX7
ENSG00000196155ENST00000360461A0A024R6X4
ENSG00000196155ENST00000379344Q58EX7
ENSG00000196155ENST00000379344A0A024R6X4
ENSG00000196155ENST00000393966Q58EX7
ENSG00000196155ENST00000427155Q58EX7
ENSG00000196155ENST00000427155A0A024R6X4
ENSG00000196155ENST00000450733Q58EX7
ENSG00000196155ENST00000562144H3BME5
ENSG00000196155ENST00000562744H3BQ60
ENSG00000196155ENST00000563969Q58EX7
ENSG00000196155ENST00000565773H3BQP9
ENSG00000196155ENST00000565899H3BPQ5
ENSG00000196155ENST00000567136H3BPA8
ENSG00000196155ENST00000567938H3BQE6
ENSG00000196155ENST00000568621H3BSU4
ENSG00000196155ENST00000569875J3QSC9

Expression (GTEx)

0
10
20
30
40
50
60
70
80

References

Pubmed IDYearTitleCitations
373368362023Pleckstrin homology and RhoGEF domain containing G4 (PLEKHG4) leads to the activation of RhoGTPases promoting the malignant phenotypes of thyroid cancer.0
373368362023Pleckstrin homology and RhoGEF domain containing G4 (PLEKHG4) leads to the activation of RhoGTPases promoting the malignant phenotypes of thyroid cancer.0
250255722014Role of the guanine nucleotide exchange factor in Akt2-mediated plasma membrane translocation of GLUT4 in insulin-stimulated skeletal muscle.13
250255722014Role of the guanine nucleotide exchange factor in Akt2-mediated plasma membrane translocation of GLUT4 in insulin-stimulated skeletal muscle.13
213576112011New gene of spinocerebellar ataxia.0
213576112011New gene of spinocerebellar ataxia.0
204248772010Analysis of an insertion mutation in a cohort of 94 patients with spinocerebellar ataxia type 31 from Nagano, Japan.14
204248772010Analysis of an insertion mutation in a cohort of 94 patients with spinocerebellar ataxia type 31 from Nagano, Japan.14
184820072008Activation of the small GTPase Rac1 by a specific guanine-nucleotide-exchange factor suffices to induce glucose uptake into skeletal-muscle cells.35
190655222008[Study on the single-nucleotide substitution (c.-16C to T) of the PURATROPHIN-1 gene in Chinese patients with spinocerebellar ataxia].0
190655222008[Study on the single-nucleotide substitution (c.-16C to T) of the PURATROPHIN-1 gene in Chinese patients with spinocerebellar ataxia].0
184820072008Activation of the small GTPase Rac1 by a specific guanine-nucleotide-exchange factor suffices to induce glucose uptake into skeletal-muscle cells.35
190655222008[Study on the single-nucleotide substitution (c.-16C to T) of the PURATROPHIN-1 gene in Chinese patients with spinocerebellar ataxia].0
190655222008[Study on the single-nucleotide substitution (c.-16C to T) of the PURATROPHIN-1 gene in Chinese patients with spinocerebellar ataxia].0
173571322007Clinical and genetic characterizations of 16q-linked autosomal dominant spinocerebellar ataxia (AD-SCA) and frequency analysis of AD-SCA in the Japanese population.10

Citation

Dessen P

PLEKHG4 (pleckstrin homology and RhoGEF domain containing G4)

Atlas Genet Cytogenet Oncol Haematol. 2015-05-01

Online version: http://atlasgeneticsoncology.org/gene/55218/plekhg4-(pleckstrin-homology-and-rhogef-domain-containing-g4)