Gene Gene information from NCBI Gene database.
Entrez ID 4983
Gene name Oligophrenin 1
Gene symbol OPHN1
Synonyms (NCBI Gene)
ARHGAP41MRX60MRXSBLOPN1
Chromosome X
Chromosome location Xq12
Summary This gene encodes a Rho-GTPase-activating protein that promotes GTP hydrolysis of Rho subfamily members. Rho proteins are important mediators of intracellular signal transduction, which affects cell migration and cell morphogenesis. Mutations in this gene
SNPs SNP information provided by dbSNP.
26
SNP ID Visualize variation Clinical significance Consequence
rs137854493 G>A Pathogenic Coding sequence variant, stop gained
rs143713841 G>T Conflicting-interpretations-of-pathogenicity, benign, benign-likely-benign Coding sequence variant, intron variant, missense variant, genic downstream transcript variant
rs368803937 G>A Conflicting-interpretations-of-pathogenicity, benign Synonymous variant, coding sequence variant, genic downstream transcript variant
rs369382527 A>C,G Conflicting-interpretations-of-pathogenicity, uncertain-significance Intron variant
rs587784234 G>A Pathogenic Stop gained, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
1097
miRTarBase ID miRNA Experiments Reference
MIRT571129 hsa-miR-3662 HITS-CLIP 24906430
MIRT571128 hsa-miR-8084 HITS-CLIP 24906430
MIRT608591 hsa-miR-7153-3p HITS-CLIP 24906430
MIRT571127 hsa-miR-1272 HITS-CLIP 24906430
MIRT608590 hsa-miR-4789-5p HITS-CLIP 24906430
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
56
GO ID Ontology Definition Evidence Reference
GO:0003779 Function Actin binding IEA
GO:0005096 Function GTPase activator activity IBA
GO:0005096 Function GTPase activator activity IEA
GO:0005096 Function GTPase activator activity TAS 9582072
GO:0005543 Function Phospholipid binding IDA 18954304
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300127 8148 ENSG00000079482
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O60890
Protein name Oligophrenin-1
Protein function Stimulates GTP hydrolysis of members of the Rho family. Its action on RHOA activity and signaling is implicated in growth and stabilization of dendritic spines, and therefore in synaptic function. Critical for the stabilization of AMPA receptors
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16746 BAR_3 6 249 Domain
PF00169 PH 266 365 PH domain Domain
PF00620 RhoGAP 388 541 RhoGAP domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in brain.
Sequence
MGHPPLEFSDCYLDSPDFRERLKCYEQELERTNKFIKDVIKDGNALISAMRNYSSAVQKF
SQTLQSFQFDFIGDTLTDDEINIAESFKEFAELLNEVENERMMMVHNASDLLIKPLENFR
KEQIGFTKERKKKFEKDGERFYSLLDRHLHLSSKKKESQLQEADLQVDKERHNFFESSLD
YVYQIQEVQESKKFNIVEPVLAFLHSLFISNSLTVELTQDFLPYKQQLQLSLQNTRNHFS
STREEMEEL
KKRMKEAPQTCKLPGQPTIEGYLYTQEKWALGISWVKYYCQYEKETKTLTM
TPMEQKPGAKQGPLDLTLKYCVRRKTESIDKRFCFDIETNERPGTITLQALSEANRRLWM
EAMDG
KEPIYHSPITKQQEMELNEVGFKFVRKCINIIETKGIKTEGLYRTVGSNIQVQKL
LNAFFDPKCPGDVDFHNSDWDIKTITSSLKFYLRNLSEPVMTYRLHKELVSAAKSDNLDY
RLGAIHSLVYKLPEKNREMLELLIRHLVNVCEHSKENLMTPSNMGVIFGPTLMRAQEDTV
A
AMMNIKFQNIVVEILIEHFGKIYLGPPEESAAPPVPPPRVTARRHKPITISKRLLRERT
VFYTSSLDESEDEIQHQTPNGTITSSIEPPKPPQHPKLPIQRSGETDPGRKSPSRPILDG
KLEPCPEVDVGKLVSRLQDGGTKITPKATNGPMPGSGPTKTPSFHIKRPAPRPLAHHKEG
DADSFSKVRPPGEKPTIIRPPVRPPDPPCRAATPQKPEPKPDIVAGNAGEITSSVVASRT
RFFETASRKTGSSQGRLPGDES
Sequence length 802
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Rho GTPase cycle
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
122
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Abnormality of the nervous system Likely pathogenic; Pathogenic rs2147523877 RCV001814515
OPHN1-related disorder Likely pathogenic rs2519799321 RCV004536698
Seizure Pathogenic rs2147462360 RCV002275914
Thyroid cancer, nonmedullary, 1 Likely pathogenic rs1064793755 RCV005899642
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autism spectrum disorder Uncertain significance rs2519930440 RCV003127291
Colon adenocarcinoma Benign; Likely benign rs200659608 RCV005898822
Familial cancer of breast Likely benign; Benign rs145196238, rs144475530 RCV005916304
RCV005889876
Genetic developmental and epileptic encephalopathy Benign; Likely benign rs367788584 RCV005626655
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Anorchia Associate 29960046
Aphasia Associate 35041927
Atrophy Associate 24105372
Autism Spectrum Disorder Associate 36750796
Brain Diseases Associate 32872024
Cerebellar Hypoplasia Associate 24105372, 24637888, 27160703, 32872024
Cryptorchidism Associate 29960046
Depression Postpartum Associate 33958329
Developmental Disabilities Associate 29960046
Disorders of Excessive Somnolence Associate 27992416