OPHN1 (oligophrenin 1)

2015-08-01  

Identity

HGNC
LOCATION
Xq12
LOCUSID
ALIAS
ARHGAP41,MRX60,OPN1
FUSION GENES

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

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

References

Pubmed IDYearTitleCitations
204797602011Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia.100
162219522005Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia.32
162219522005Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia.32
128079662003Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia.30
222383702012Global gene analysis of oocytes from early stages in human folliculogenesis shows high expression of novel genes in reproduction.14
271468432016Fasudil treatment in adult reverses behavioural changes and brain ventricular enlargement in Oligophrenin-1 mouse model of intellectual disability.7
205288892011Novel intragenic deletion in OPHN1 in a family causing XLMR with cerebellar hypoplasia and distinctive facial appearance.6
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.6
199110112010Mutation of ARHGAP9 in patients with coronary spastic angina.5
217967282011Insertion of 16 amino acids in the BAR domain of the oligophrenin 1 protein causes mental retardation and cerebellar hypoplasia in an Italian family.5

Citation

Dessen P

OPHN1 (oligophrenin 1)

Atlas Genet Cytogenet Oncol Haematol. 2015-08-01

Online version: http://atlasgeneticsoncology.org/gene/55342/ophn1