Gene Gene information from NCBI Gene database. Download as csv Download as pdf
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

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

20 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

45 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)

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)

Phenotype Name	Clinical Significance	Source	Reference	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. Show/Hide Unknown Diseases (27)
Acute myeloid leukemia	Likely benign; Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	25918132	★★★★★ ★★☆☆☆ 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	24958875, 27269051, 32631815, ClinGen report	★★★★★ ★★☆☆☆ 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	35694926	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLAUCOMA	—	GWAS catalog	34834521	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	33462484, 39406924	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEARING LOSS, AUTOSOMAL RECESSIVE	—	GWAS catalog	24958875	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
nonsyndromic genetic hearing loss	—	ClinGen	ClinGen report	★★★★★ ★★☆☆☆ 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	39749473	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	39749473	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (18)
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

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
GRXCR1	4	["Isolated sensorineural deafness","Nonsyndromic hearing loss","Deafness","nonsyndromic genetic hearing loss"]	[]	9	["Disgenet (Isolated sensorineural deafness)","Disgenet (Nonsyndromic hearing loss)","GWAS catalog (Nonsyndromic hearing loss)","ClinVar (Nonsyndromic hearing loss)","CTD (Deafness)","Disgenet (Deafness)","HPO (Deafness)","GWAS catalog (Hearing loss)","ClinGen (nonsyndromic genetic hearing loss)"]
GIPC3	4	["Isolated sensorineural deafness","Nonsyndromic hearing loss","Deafness","nonsyndromic genetic hearing loss"]	[]	8	["Disgenet (Isolated sensorineural deafness)","Disgenet (Nonsyndromic hearing loss)","ClinVar (Nonsyndromic hearing loss)","CTD (Deafness)","Disgenet (Deafness)","HPO (Deafness)","GWAS catalog (Hearing loss)","ClinGen (nonsyndromic genetic hearing loss)"]
CD164	4	["Isolated sensorineural deafness","Nonsyndromic hearing loss","Deafness","autosomal dominant nonsyndromic hearing loss"]	[]	9	["Disgenet (Isolated sensorineural deafness)","ClinGen (Nonsyndromic hearing loss)","Disgenet (Nonsyndromic hearing loss)","GWAS catalog (Nonsyndromic hearing loss)","ClinVar (Nonsyndromic hearing loss)","CTD (Deafness)","Disgenet (Deafness)","HPO (Deafness)","ClinGen (autosomal dominant nonsyndromic hearing loss)"]
GRXCR2	4	["Isolated sensorineural deafness","Nonsyndromic hearing loss","Deafness","nonsyndromic genetic hearing loss"]	[]	9	["Disgenet (Isolated sensorineural deafness)","Disgenet (Nonsyndromic hearing loss)","GWAS catalog (Nonsyndromic hearing loss)","ClinVar (Nonsyndromic hearing loss)","CTD (Deafness)","Disgenet (Deafness)","HPO (Deafness)","GWAS catalog (Hearing loss)","ClinGen (nonsyndromic genetic hearing loss)"]
HOMER2	4	["Isolated sensorineural deafness","Nonsyndromic hearing loss","Deafness","nonsyndromic genetic hearing loss"]	[]	8	["Disgenet (Isolated sensorineural deafness)","Disgenet (Nonsyndromic hearing loss)","GWAS catalog (Nonsyndromic hearing loss)","ClinVar (Nonsyndromic hearing loss)","CTD (Deafness)","Disgenet (Deafness)","HPO (Deafness)","ClinGen (nonsyndromic genetic hearing loss)"]

RIPOR2 (RHO family interacting cell polarization regulator 2)

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