ARHGAP12 (Rho GTPase activating protein 12)

2006-10-01  

Identity

HGNC
ARHGAP12
LOCATION
10p11.22
LOCUSID
94134
ALIAS
-
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 94134
MIM: 610577
HGNC: 16348
Ensembl: ENSG00000165322

Variants:

dbSNP: 94134
ClinVar: 94134
TCGA: ENSG00000165322
COSMIC: ARHGAP12

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000165322ENST00000311380Q8IWW6
ENSG00000165322ENST00000344936Q8IWW6
ENSG00000165322ENST00000375245Q1RLN5
ENSG00000165322ENST00000375250Q8IWW6
ENSG00000165322ENST00000396144Q8IWW6
ENSG00000165322ENST00000454919H0Y5D8

Expression (GTEx)

0
5
10
15
20
25
30
35
40
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
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 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
189846742009KIF5B gene sequence variation and response of cardiac stroke volume to regular exercise.11
189846742009KIF5B gene sequence variation and response of cardiac stroke volume to regular exercise.11
185044292008Met-driven invasive growth involves transcriptional regulation of Arhgap12.18
185044292008Met-driven invasive growth involves transcriptional regulation of Arhgap12.18
185044292008Met-driven invasive growth involves transcriptional regulation of Arhgap12.18
185044292008Met-driven invasive growth involves transcriptional regulation of Arhgap12.18
163854512006A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.83
163854512006A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.83
118540312002Cloning and characterization of ARHGAP12, a novel human rhoGAP gene.5
118540312002Cloning and characterization of ARHGAP12, a novel human rhoGAP gene.5

Citation

Dessen P

ARHGAP12 (Rho GTPase activating protein 12)

Atlas Genet Cytogenet Oncol Haematol. 2006-10-01

Online version: http://atlasgeneticsoncology.org/gene/43132/gene-fusions-explorer/cancer-prone-explorer/css/card-gene.css