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
160013622005An autosomal dominant cerebellar ataxia linked to chromosome 16q22.1 is associated with a single-nucleotide substitution in the 5' untranslated region of the gene encoding a protein with spectrin repeat and Rho guanine-nucleotide exchange-factor domains.25
184820072008Activation of the small GTPase Rac1 by a specific guanine-nucleotide-exchange factor suffices to induce glucose uptake into skeletal-muscle cells.23
151481512004Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families.19
250255722014Role of the guanine nucleotide exchange factor in Akt2-mediated plasma membrane translocation of GLUT4 in insulin-stimulated skeletal muscle.10
176117102007Redefining the disease locus of 16q22.1-linked autosomal dominant cerebellar ataxia.8
204248772010Analysis of an insertion mutation in a cohort of 94 patients with spinocerebellar ataxia type 31 from Nagano, Japan.8
16780885200616q-linked autosomal dominant cerebellar ataxia: a clinical and genetic study.7
173571322007Clinical and genetic characterizations of 16q-linked autosomal dominant spinocerebellar ataxia (AD-SCA) and frequency analysis of AD-SCA in the Japanese population.7
127968262003Refinement of the spinocerebellar ataxia type 4 locus in a large German family and exclusion of CAG repeat expansions in this region.6
154552642004Fine mapping of 16q-linked autosomal dominant cerebellar ataxia type III in Japanese families.5

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