RIPOR2 (RHO family interacting cell polarization regulator 2)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 9750
Gene name RHO family interacting cell polarization regulator 2
Gene symbol RIPOR2
Synonyms (NCBI Gene)
C6orf32DFNA21DFNB104DIFF40DIFF48FAM65BMYONAPPL48
Chromosome 6
Chromosome location 6p22.3
Summary This gene encodes an atypical inhibitor of the small G protein RhoA. Inhibition of RhoA activity by the encoded protein mediates myoblast fusion and polarization of T cells and neutrophils. The encoded protein is a component of hair cell stereocilia that
SNPs SNP information provided by dbSNP.
2
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (2)
SNP ID Visualize variation Clinical significance Consequence
rs373913240 T>C Likely-benign, conflicting-interpretations-of-pathogenicity Missense variant, non coding transcript variant, coding sequence variant, genic downstream transcript variant
rs875989828 C>T Pathogenic Splice acceptor variant
miRNA miRNA information provided by mirtarbase database.
20
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (20)
miRTarBase ID miRNA Experiments Reference
MIRT658363 hsa-miR-6819-3p HITS-CLIP 23824327
MIRT658362 hsa-miR-6877-3p HITS-CLIP 23824327
MIRT658361 hsa-miR-1224-3p HITS-CLIP 23824327
MIRT658360 hsa-miR-532-3p HITS-CLIP 23824327
MIRT658359 hsa-miR-1285-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
45
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (45)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 21988832, 23241886, 24687993, 25416956, 27556504, 28169274, 32296183
GO:0005737 Component Cytoplasm IDA 17150207, 23241886, 24687993
GO:0005737 Component Cytoplasm IEA
GO:0005829 Component Cytosol IDA
GO:0005856 Component Cytoskeleton IDA 17150207
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
611410 13872 ENSG00000111913
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y4F9
Protein name Rho family-interacting cell polarization regulator 2
Protein function Acts as an inhibitor of the small GTPase RHOA and plays several roles in the regulation of myoblast and hair cell differentiation, lymphocyte T proliferation and neutrophil polarization (PubMed:17150207, PubMed:23241886, PubMed:24687993, PubMed:
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15903 PL48 16 → 364 Filopodia upregulated, FAM65 Family
Tissue specificity TISSUE SPECIFICITY: Expressed in primary fetal mononuclear myoblast (PubMed:17150207). Expressed strongly in naive T lymphocytes (PubMed:27556504). Expressed weakly in activated T lymphocytes (at protein level) (PubMed:27556504). Expressed in blood cells
Sequence 
MLVGSQSFSPGGPNGIIRSQSFAGFSGLQERRSRCNSFIENSSALKKPQAKLKKMHNLGH
KNNNPPKEPQPKRVEEVYRALKNGLDEYLEVHQTELDKLTAQLKDMKRNSRLGVLYDLDK
QIKTIERYMRRLEFHISKVDELYEAYCIQRRLQDGASKMKQAFATSPASKAARESLTEIN
RSFKEYTENMCTIEVELENLLGEFSIKMKGLAGFARLCPGDQYEIFMKYGRQRWKLKGKI
EVNGKQSWDGEETVFLPLIVGFISIKVTELKGLATHILVGSVTCETKELFAARPQVVAVD
INDLGTIKLNLEITWYPFDVEDMTASSGAGNKAAALQRRMSMYSQGTPETPTFKDHSFFR
WLHPSPDKPRRLSVLSALQDTFFAKLHRSRSFSDLPSLRPSPKAVLELYSNLPDDIFENG
KAAEEKMPLSLSFSDLPNGDCALTSHSTGSPSNSTNPEITITPAEFNLSSLASQNEGMDD
TSSASSRNSLGEGQEPKSHLKEEDPEEPRKPASAPSEACRRQSSGAGAEHLFLENDVAEA
LLQESEEASELKPVELDTSEGNITKQLVKRLTSAEVPMATDRLLSEGSVGGESEGCRSFL
DGSLEDAFNGLLLALEPHKEQYKEFQDLNQEVMNLDDILKCKPAVSRSRSSSLSLTVESA
LESFDFLNTSDFDEEEDGDEVCNVGGGADSVFSDTETEKHSYRSVHPEARGHLSEALTED
TGVGTSVAGSPLPLTTGNESLDITIVRHLQYCTQLVQQIVFSSKTPFVARSLLEKLSRQI
QVMEKLAAVSDENIGNISSVVEAIPEFHKKLSLLSFWTKCCSPVGVYHSPADRVMKQLEA
SFARTVNKEYPGLADPVFRTLVSQILDRAEPLLSSSLSSEVVTVFQYYSYFTSHGVSDLE
SYLSQLARQVSMVQTLQSLRDEKLLQTMSDLAPSNLLAQQEVLRTLALLLTREDNEVSEA
VTLYLAAASKNQHFREKALLYYCEALTKTNLQLQKAACLALKILEATESIKMLVTLCQSD
TEEIRNVASETLLSLGEDGRLAYEQLDKFPRDCVKVGGRHGTEVATAF
Sequence length 1068
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
56
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autosomal recessive nonsyndromic hearing loss 104 Pathogenic; Likely pathogenic rs875989828, rs1389784921 RCV000190353
RCV003334353
Show/Hide Unknown Diseases (12)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Likely benign; Benign rs35985881, rs73398456, rs11967003, rs373584238 RCV005920904
RCV005929978
RCV005898905
RCV005903851
Autosomal dominant nonsyndromic hearing loss 21 Likely benign; Uncertain significance rs199905499, rs760676508, rs745360194, rs765214729 RCV002503249
RCV002216150
RCV002496170
RCV002481043
Cervical cancer Likely benign rs35985881 RCV005920905
Chronic lymphocytic leukemia/small lymphocytic lymphoma Uncertain significance rs745360194 RCV005929977
Show/Hide Text Mining Associations (2)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 20418484
Parkinson Disease Associate 36595764