Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

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

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

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
MIRT658358	hsa-miR-3187-5p	HITS-CLIP	23824327
MIRT658357	hsa-miR-5189-5p	HITS-CLIP	23824327
MIRT658356	hsa-miR-612	HITS-CLIP	23824327
MIRT658355	hsa-miR-6860	HITS-CLIP	23824327
MIRT658354	hsa-miR-4486	HITS-CLIP	23824327
MIRT658353	hsa-miR-378g	HITS-CLIP	23824327
MIRT658352	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT658351	hsa-miR-4437	HITS-CLIP	23824327
MIRT658350	hsa-miR-1260a	HITS-CLIP	23824327
MIRT658349	hsa-miR-1260b	HITS-CLIP	23824327
MIRT658348	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT658347	hsa-miR-4314	HITS-CLIP	23824327
MIRT658346	hsa-miR-4674	HITS-CLIP	23824327
MIRT440675	hsa-miR-374a-5p	HITS-CLIP	22473208
MIRT440675	hsa-miR-374a-5p	HITS-CLIP	22473208

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
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0006935	Process	Chemotaxis	IEA
GO:0007155	Process	Cell adhesion	IEA
GO:0007162	Process	Negative regulation of cell adhesion	IMP	23241886
GO:0007162	Process	Negative regulation of cell adhesion	ISS
GO:0007517	Process	Muscle organ development	IEA
GO:0007605	Process	Sensory perception of sound	IEA
GO:0007605	Process	Sensory perception of sound	IMP	24958875
GO:0007605	Process	Sensory perception of sound	IMP	24958875
GO:0009968	Process	Negative regulation of signal transduction	IEA
GO:0016020	Component	Membrane	IEA
GO:0016324	Component	Apical plasma membrane	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030175	Component	Filopodium	IDA	17150207
GO:0030175	Component	Filopodium	IEA
GO:0032420	Component	Stereocilium	IEA
GO:0032420	Component	Stereocilium	ISS
GO:0035024	Process	Negative regulation of Rho protein signal transduction	IMP	23241886
GO:0035024	Process	Negative regulation of Rho protein signal transduction	ISS
GO:0042130	Process	Negative regulation of T cell proliferation	IMP	27556504
GO:0042130	Process	Negative regulation of T cell proliferation	TAS	27556504
GO:0042995	Component	Cell projection	IEA
GO:0045663	Process	Positive regulation of myoblast differentiation	IMP	17150207
GO:0051491	Process	Positive regulation of filopodium assembly	IMP	17150207
GO:0051726	Process	Regulation of cell cycle	IMP	27556504
GO:0060171	Component	Stereocilium membrane	IEA
GO:0071889	Function	14-3-3 protein binding	IDA	24687993, 27556504
GO:0090023	Process	Positive regulation of neutrophil chemotaxis	ISS
GO:0098858	Component	Actin-based cell projection	IEA
GO:1901673	Process	Regulation of mitotic spindle assembly	IMP	27556504
GO:1901741	Process	Positive regulation of myoblast fusion	IMP	17150207
GO:1903904	Process	Negative regulation of establishment of T cell polarity	IMP	23241886
GO:1905872	Process	Negative regulation of protein localization to cell leading edge	ISS
GO:1990869	Process	Cellular response to chemokine	IDA	23241886
GO:2000114	Process	Regulation of establishment of cell polarity	ISS
GO:2000391	Process	Positive regulation of neutrophil extravasation	ISS
GO:2000405	Process	Negative regulation of T cell migration	IMP	23241886
GO:2001107	Process	Negative regulation of Rho guanyl-nucleotide exchange factor activity	IMP	23241886
GO:2001107	Process	Negative regulation of Rho guanyl-nucleotide exchange factor activity	ISS

MIM	HGNC	e!Ensembl
611410	13872	ENSG00000111913

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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal recessive nonsyndromic hearing loss 104	Pathogenic; Likely pathogenic	rs875989828, rs1389784921	RCV000190353 RCV003334353	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (26)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT ISOLATED SENSORINEURAL DEAFNESS TYPE DFNA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT NONSYNDROMIC HEARING LOSS	—	ClinGen, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal dominant nonsyndromic hearing loss 21	Likely benign; Uncertain significance	ClinVar ClinVar, GenCC	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
AUTOSOMAL RECESSIVE ISOLATED SENSORINEURAL DEAFNESS TYPE DFNB	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL DOMINANT 21	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 104	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLAUCOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEARING LOSS, AUTOSOMAL RECESSIVE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RIPOR2-related disorder	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORINEURAL HEARING LOSS OF BILATERAL EARS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (18)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Asthma	Asthma	GWASCAT_DG	25918132		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal recessive non-syndromic sensorineural deafness type DFNB	Non-Syndromic Sensorineural Deafness	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	20418484	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	30349076		★★★★★ ★☆☆☆☆ Found in Text Mining only
DEAFNESS, AUTOSOMAL RECESSIVE 104	Deafness	GENOMICS_ENGLAND_DG	27269051		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 104	Deafness	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 104	Deafness	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant Neoplasms	Malignant Neoplasm	BEFREE	21190562		★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophies, Limb-Girdle	Limb-Girdle Muscular Dystrophy	BEFREE	24687993		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	24687993		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	21190562		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	BEFREE	16007628		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	CLINGEN_DG	24958875, 27269051		★★★★★ ★☆☆☆☆ Found in Text Mining only
PACHYONYCHIA CONGENITA 3	Pachyonychia Congenita	BEFREE	21190562		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	36595764	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prelingual sensorineural hearing impairment	Sensorineural hearing loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	GWASDB_DG	19503088		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	GENOMICS_ENGLAND_DG	27269051		★★★★★ ★☆☆☆☆ Found in Text Mining only

RIPOR2 (RHO family interacting cell polarization regulator 2)