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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	9750
Gene name Gene Name - the full gene name approved by the HGNC.	RHO family interacting cell polarization regulator 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	RIPOR2
Synonyms (NCBI Gene) Gene synonyms aliases	C6orf32, DFNA21, DFNB104, DIFF40, DIFF48, FAM65B, MYONAP, PL48
Disease Acronyms (UniProt) Disease acronyms from UniProt database	DFNA21, DFNB104
Chromosome Chromosome number	6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	6p22.3
Summary Summary of gene provided in NCBI Entrez Gene.	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(33)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	21988832, 24687993, 25416956, 28169274
GO:0005737	Component	Cytoplasm	IDA	17150207, 23241886, 24687993
GO:0005856	Component	Cytoskeleton	IDA	17150207
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:0007605	Process	Sensory perception of sound	IMP	24958875
GO:0016324	Component	Apical plasma membrane	IEA
GO:0030175	Component	Filopodium	IDA	17150207
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:0042802	Function	Identical protein binding	IEA
GO:0045184	Process	Establishment of protein localization	IEA
GO:0045663	Process	Positive regulation of myoblast differentiation	IMP	17150207
GO:0048741	Process	Skeletal muscle fiber development	IEA
GO:0051260	Process	Protein homooligomerization	IEA
GO:0051491	Process	Positive regulation of filopodium assembly	IMP	17150207
GO:0060088	Process	Auditory receptor cell stereocilium organization	IEA
GO:0060171	Component	Stereocilium membrane	IEA
GO:0071260	Process	Cellular response to mechanical stimulus	IEA
GO:0071889	Function	14-3-3 protein binding	IDA	24687993
GO:0090023	Process	Positive regulation of neutrophil chemotaxis	ISS
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

Protein

UniProt ID

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

Show/Hide Causal Diseases (4)

Disease term	Disease name	dbSNP ID	References
Causal
Deafness	DEAFNESS, AUTOSOMAL RECESSIVE 104	rs267607135, rs387906219, rs387906220, rs387906221, rs387906222, rs606231120, rs267606855, rs121918370, rs137853185, rs137853186, rs137853187, rs137853188, rs587776522, rs587776523, rs200781822 View all (1019 more)	27269051
Hearing loss	Sensorineural Hearing Loss (disorder)	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359 View all (184 more)	27269051
Nonsyndromic deafness	Nonsyndromic Deafness	rs606231410, rs794729665, rs730880338, rs1566538321	24958875, 27269051
Rheumatoid arthritis	Rheumatoid Arthritis	rs587776843	19503088

Show/Hide Unknown Diseases (3)

Disease term	Disease name	References	Source
Unknown
Asthma	Asthma	25918132	ClinVar
Gout	Gout		GWAS
Glaucoma	Glaucoma		GWAS

Show/Hide Text Mining Associations (2)

Disease Name	Relationship Type	References
Associations from Text Mining
Breast Neoplasms	Associate	20418484
Parkinson Disease	Associate	36595764

RIPOR2 (RHO family interacting cell polarization regulator 2)