Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4983
Gene name Gene Name - the full gene name approved by the HGNC.
Oligophrenin 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
OPHN1
Synonyms (NCBI Gene) Gene synonyms aliases
ARHGAP41, MRX60, MRXSBL, OPN1
Disease Acronyms (UniProt) Disease acronyms from UniProt database
MRXSBL
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xq12
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003779 Function Actin binding IEA
GO:0005096 Function GTPase activator activity IBA 21873635
GO:0005543 Function Phospholipid binding IDA 18954304
GO:0005737 Component Cytoplasm IBA 21873635
GO:0005829 Component Cytosol TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
300127 8148 ENSG00000079482
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Attention deficit hyperactivity disorder Attention deficit hyperactivity disorder rs786205019
Autism Autistic Disorder rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699
View all (8 more)
Cryptorchidism Cryptorchidism rs121912555, rs104894697, rs104894698, rs398122886
Developmental delay Global developmental delay, Gross motor development delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Unknown
Disease term Disease name Evidence References Source
Prostate cancer Prostate cancer Together, these results show that PRRX2 is an oncogene and might play a role in the aggressiveness of PC within the DNPC population. GWAS, CBGDA
Hypogonadism Hypogonadism GWAS
Coronary artery disease Coronary artery disease GWAS
Associations from Text Mining
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