• Gene id: 9750

Gene Summary

• Gene Symbol: RIPOR2   Gene   UCSC   Ensembl
• Aliases: C6orf32, DFNB104, DIFF40, DIFF48, FAM65B, MYONAP, PL48
• Gene name: RHO family interacting cell polarization regulator 2
• Alternate names: rho family-interacting cell polarization regulator 2, family with sequence similarity 65 member B, myogenesis-related and NCAM-associated protein homolog, protein FAM65B,
• Gene location: 6p22.3 (25042287: 24804283)     Exons: 31     NC_000006.12
• Gene summary(Entrez): 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
• OMIM: 605308

Protein Summary

• Protein general information: Q9Y4F9  
  • Name: Rho family interacting cell polarization regulator 2
  • Length: 1068  
  • Mass: 118519
  • Tissue specificity: Expressed in primary fetal mononuclear myoblast (PubMed
• Sequence:

  MLVGSQSFSPGGPNGIIRSQSFAGFSGLQERRSRCNSFIENSSALKKPQAKLKKMHNLGHKNNNPPKEPQPKRVE
  EVYRALKNGLDEYLEVHQTELDKLTAQLKDMKRNSRLGVLYDLDKQIKTIERYMRRLEFHISKVDELYEAYCIQR
  RLQDGASKMKQAFATSPASKAARESLTEINRSFKEYTENMCTIEVELENLLGEFSIKMKGLAGFARLCPGDQYEI
  FMKYGRQRWKLKGKIEVNGKQSWDGEETVFLPLIVGFISIKVTELKGLATHILVGSVTCETKELFAARPQVVAVD
  INDLGTIKLNLEITWYPFDVEDMTASSGAGNKAAALQRRMSMYSQGTPETPTFKDHSFFRWLHPSPDKPRRLSVL
  SALQDTFFAKLHRSRSFSDLPSLRPSPKAVLELYSNLPDDIFENGKAAEEKMPLSLSFSDLPNGDCALTSHSTGS
  PSNSTNPEITITPAEFNLSSLASQNEGMDDTSSASSRNSLGEGQEPKSHLKEEDPEEPRKPASAPSEACRRQSSG
  AGAEHLFLENDVAEALLQESEEASELKPVELDTSEGNITKQLVKRLTSAEVPMATDRLLSEGSVGGESEGCRSFL
  DGSLEDAFNGLLLALEPHKEQYKEFQDLNQEVMNLDDILKCKPAVSRSRSSSLSLTVESALESFDFLNTSDFDEE
  EDGDEVCNVGGGADSVFSDTETEKHSYRSVHPEARGHLSEALTEDTGVGTSVAGSPLPLTTGNESLDITIVRHLQ
  YCTQLVQQIVFSSKTPFVARSLLEKLSRQIQVMEKLAAVSDENIGNISSVVEAIPEFHKKLSLLSFWTKCCSPVG
  VYHSPADRVMKQLEASFARTVNKEYPGLADPVFRTLVSQILDRAEPLLSSSLSSEVVTVFQYYSYFTSHGVSDLE
  SYLSQLARQVSMVQTLQSLRDEKLLQTMSDLAPSNLLAQQEVLRTLALLLTREDNEVSEAVTLYLAAASKNQHFR
  EKALLYYCEALTKTNLQLQKAACLALKILEATESIKMLVTLCQSDTEEIRNVASETLLSLGEDGRLAYEQLDKFP
  RDCVKVGGRHGTEVATAF

• Structural information:
  • Interpro: IPR011989  IPR016024  IPR031780  IPR033035  IPR026136  
  • STRING: ENSP00000482957
• Other Databases: GeneCards:  RIPOR2  Malacards:  RIPOR2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005737	cytoplasm	IDA	cellular component
GO:0071889	14-3-3 protein binding	IDA	molecular function
GO:0030175	filopodium	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:1990869	cellular response to chemokine	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0005856	cytoskeleton	IDA	cellular component
GO:2001107	negative regulation of Rho guanyl-nucleotide exchange factor activity	IMP	biological process
GO:2001107	negative regulation of Rho guanyl-nucleotide exchange factor activity	ISS	biological process
GO:2000114	regulation of establishment of cell polarity	ISS	biological process
GO:0051491	positive regulation of filopodium assembly	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0032420	stereocilium	ISS	cellular component
GO:0007605	sensory perception of sound	IMP	biological process
GO:0007162	negative regulation of cell adhesion	IMP	biological process
GO:1903904	negative regulation of establishment of T cell polarity	IMP	biological process
GO:2000405	negative regulation of T cell migration	IMP	biological process
GO:0035024	negative regulation of Rho protein signal transduction	IMP	biological process
GO:2000391	positive regulation of neutrophil extravasation	ISS	biological process
GO:1905872	negative regulation of protein localization to cell leading edge	ISS	biological process
GO:0090023	positive regulation of neutrophil chemotaxis	ISS	biological process
GO:0035024	negative regulation of Rho protein signal transduction	ISS	biological process
GO:0007162	negative regulation of cell adhesion	ISS	biological process
GO:1901741	positive regulation of myoblast fusion	IMP	biological process
GO:0045663	positive regulation of myoblast differentiation	IMP	biological process
GO:0048741	skeletal muscle fiber development	IEA	biological process
GO:0007605	sensory perception of sound	IEA	biological process
GO:0007517	muscle organ development	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0009968	negative regulation of signal transduction	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0006935	chemotaxis	IEA	biological process
GO:0007155	cell adhesion	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0007605	sensory perception of sound	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0007605	sensory perception of sound	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:2001107	negative regulation of Rho guanyl-nucleotide exchange factor activity	IEA	biological process
GO:2000114	regulation of establishment of cell polarity	IEA	biological process
GO:0060088	auditory receptor cell stereocilium organization	IEA	biological process
GO:0051491	positive regulation of filopodium assembly	IEA	biological process
GO:2000391	positive regulation of neutrophil extravasation	IEA	biological process
GO:1990869	cellular response to chemokine	IEA	biological process
GO:1905872	negative regulation of protein localization to cell leading edge	IEA	biological process
GO:0090023	positive regulation of neutrophil chemotaxis	IEA	biological process
GO:0071260	cellular response to mechanical stimulus	IEA	biological process
GO:0051260	protein homooligomerization	IEA	biological process
GO:0045184	establishment of protein localization	IEA	biological process
GO:0042802	identical protein binding	IEA	molecular function
GO:0035024	negative regulation of Rho protein signal transduction	IEA	biological process
GO:0032420	stereocilium	IEA	cellular component
GO:0007605	sensory perception of sound	IEA	biological process
GO:0007162	negative regulation of cell adhesion	IEA	biological process
GO:0060171	stereocilium membrane	IEA	cellular component
GO:0032420	stereocilium	IEA	cellular component
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0030175	filopodium	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0060171	stereocilium membrane	IEA	cellular component
GO:0032420	stereocilium	IEA	cellular component
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component

Diseases

Associated diseases	References
Deafness, autosomal recessive	KEGG:H00605
Deafness, autosomal recessive	KEGG:H00605
Spermatogenic defects	MIK: 31037746
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray