OPHN1 (oligophrenin 1)

2015-08-01  

Identity

HGNC
OPHN1
LOCATION
Xq12
LOCUSID
4983
ALIAS
ARHGAP41,MRX60,OPN1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 4983
MIM: 300127
HGNC: 8148
Ensembl: ENSG00000079482

Variants:

dbSNP: 4983
ClinVar: 4983
TCGA: ENSG00000079482
COSMIC: OPHN1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000079482ENST00000355520O60890

Expression (GTEx)

0
5
10
15
20
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
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
389566162024Effect of the OPHN1 novel variant c.1025+1 G>A on RNA splicing: insights from a minigene assay.0
389566162024Effect of the OPHN1 novel variant c.1025+1 G>A on RNA splicing: insights from a minigene assay.0
347386302022Androgen deprivation‑induced OPHN1 amplification promotes castration‑resistant prostate cancer.4
347386302022Androgen deprivation‑induced OPHN1 amplification promotes castration‑resistant prostate cancer.4
336386012021Novel unconventional variants expand the allelic spectrum of OPHN1 gene.2
336386012021Novel unconventional variants expand the allelic spectrum of OPHN1 gene.2
273908942017Large in-frame intragenic deletion of OPHN1 in a male patient with a normal intelligence quotient score.4
273908942017Large in-frame intragenic deletion of OPHN1 in a male patient with a normal intelligence quotient score.4
271468432016Fasudil treatment in adult reverses behavioural changes and brain ventricular enlargement in Oligophrenin-1 mouse model of intellectual disability.15
271607032016Rho Kinase Inhibition Is Essential During In Vitro Neurogenesis and Promotes Phenotypic Rescue of Human Induced Pluripotent Stem Cell-Derived Neurons With Oligophrenin-1 Loss of Function.12
277427782016Oligophrenin-1 regulates number, morphology and synaptic properties of adult-born inhibitory interneurons in the olfactory bulb.11
271468432016Fasudil treatment in adult reverses behavioural changes and brain ventricular enlargement in Oligophrenin-1 mouse model of intellectual disability.15
271607032016Rho Kinase Inhibition Is Essential During In Vitro Neurogenesis and Promotes Phenotypic Rescue of Human Induced Pluripotent Stem Cell-Derived Neurons With Oligophrenin-1 Loss of Function.12
277427782016Oligophrenin-1 regulates number, morphology and synaptic properties of adult-born inhibitory interneurons in the olfactory bulb.11
241053722014A novel in-frame deletion affecting the BAR domain of OPHN1 in a family with intellectual disability and hippocampal alterations.10

Citation

Dessen P

OPHN1 (oligophrenin 1)

Atlas Genet Cytogenet Oncol Haematol. 2015-08-01

Online version: http://atlasgeneticsoncology.org/gene/55342/gene-explorer/css/gene-fusions/js/lib/bootstrap.min.js