ARHGEF28 (Rho guanine nucleotide exchange factor 28)

2011-03-01  

Identity

HGNC
ARHGEF28
LOCATION
5q13.2
LOCUSID
64283
ALIAS
RGNEF,RIP2,p190RHOGEF
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 64283
MIM: 612790
HGNC: 30322
Ensembl: ENSG00000214944

Variants:

dbSNP: 64283
ClinVar: 64283
TCGA: ENSG00000214944
COSMIC: ARHGEF28

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000214944ENST00000296794Q8N1W1
ENSG00000214944ENST00000296799Q8N1W1
ENSG00000214944ENST00000426542Q8N1W1
ENSG00000214944ENST00000437974Q8N1W1
ENSG00000214944ENST00000509848D6RAP0
ENSG00000214944ENST00000512883D6RGZ3
ENSG00000214944ENST00000513042Q8N1W1
ENSG00000214944ENST00000545377Q8N1W1

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
Developmental BiologyREACTOMER-HSA-1266738
Axon guidanceREACTOMER-HSA-422475
EPH-Ephrin signalingREACTOMER-HSA-2682334
EPHB-mediated forward signalingREACTOMER-HSA-3928662

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

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA447197Attention Deficit Disorder with HyperactivityDiseaseClinicalAnnotationassociatedPD29382897
PA450464methylphenidateChemicalClinicalAnnotationassociatedPD29382897

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
229412242012Co-aggregation of RNA binding proteins in ALS spinal motor neurons: evidence of a common pathogenic mechanism.33
212243602011p190RhoGEF (Rgnef) promotes colon carcinoma tumor progression via interaction with focal adhesion kinase.25
232867522013Detection of a novel frameshift mutation and regions with homozygosis within ARHGEF28 gene in familial amyotrophic lateral sclerosis.12
194888992010Human low molecular weight neurofilament (NFL) mRNA interacts with a predicted p190RhoGEF homologue (RGNEF) in humans.7
202009782010Replication of previous genome-wide association studies of bone mineral density in premenopausal American women.7
247129712014ARHGEF28 gene exon 6/intron 6 junction mutations in Chinese amyotrophic lateral sclerosis cohort.7
259220722015Gastrin-stimulated Gα13 Activation of Rgnef Protein (ArhGEF28) in DLD-1 Colon Carcinoma Cells.6
291960612018Direct regulation of p190RhoGEF by activated Rho and Rac GTPases.4
313084892019Rgnef promotes ovarian tumor progression and confers protection from oxidative stress.3

Citation

Dessen P

ARHGEF28 (Rho guanine nucleotide exchange factor 28)

Atlas Genet Cytogenet Oncol Haematol. 2011-03-01

Online version: http://atlasgeneticsoncology.org/gene/52147/arhgef28