RIPOR2 - RHO family interacting cell polarization regulator 2 Gene

Also Known as PL48; DFNA21; DIFF40; DIFF48; FAM65B; MYONAP; C6orf32; DFNB104

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 9750

About RIPOR2

Cytogenetic location: 6p22.3 Genomic coordinates (GRCh38): 6:24,804,284-25,042,168 (from NCBI)

This gene has 17 transcripts (splice variants), 214 orthologues, 2 paralogues and is associated with 3 phenotypes. Biased expression in lymph node (RPKM 23.2), spleen (RPKM 16.0) and 11 other tissues.

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 is essential for hearing. A splice site mutation in this gene results in hearing loss in human patients. [provided by RefSeq, Sep 2016]

RIPOR2 Products (7)

mRNA	Protein	Name
NM_001286445.3	NP_001273374.1	rho family-interacting cell polarization regulator 2 isoform 3
NM_001286446.3	NP_001273375.1	rho family-interacting cell polarization regulator 2 isoform 4
NM_001286447.2	NP_001273376.1	rho family-interacting cell polarization regulator 2 isoform 5
NM_001346031.2	NP_001332960.1	rho family-interacting cell polarization regulator 2 isoform 6
NM_001346032.2	NP_001332961.1	rho family-interacting cell polarization regulator 2 isoform 6
NM_014722.5	NP_055537.2	rho family-interacting cell polarization regulator 2 isoform 1
NM_015864.5	NP_056948.2	rho family-interacting cell polarization regulator 2 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables 14-3-3 protein binding	IDA IDA: Inferred from direct assay	24687993	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	21988832	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cellular response to chemokine	IDA IDA: Inferred from direct assay	23241886	GOA
involved in negative regulation of Rho guanyl-nucleotide exchange factor activity	IMP IMP: Inferred from mutant phenotype	23241886	GOA
involved in negative regulation of Rho protein signal transduction	IMP IMP: Inferred from mutant phenotype	23241886	GOA
involved in negative regulation of T cell migration	IMP IMP: Inferred from mutant phenotype	23241886	GOA
involved in negative regulation of T cell proliferation	IMP IMP: Inferred from mutant phenotype	27556504	GOA
involved in negative regulation of cell adhesion	IMP IMP: Inferred from mutant phenotype	23241886	GOA
involved in negative regulation of establishment of T cell polarity	IMP IMP: Inferred from mutant phenotype	23241886	GOA
involved in positive regulation of filopodium assembly	IMP IMP: Inferred from mutant phenotype	17150207	GOA
involved in positive regulation of myoblast differentiation	IMP IMP: Inferred from mutant phenotype	17150207	GOA
involved in positive regulation of myoblast fusion	IMP IMP: Inferred from mutant phenotype	17150207	GOA
involved in regulation of cell cycle	IMP IMP: Inferred from mutant phenotype	27556504	GOA
involved in regulation of mitotic spindle assembly	IMP IMP: Inferred from mutant phenotype	27556504	GOA
acts upstream of or within sensory perception of sound	IMP IMP: Inferred from mutant phenotype	24958875	GOA
involved in sensory perception of sound	IMP IMP: Inferred from mutant phenotype	24958875	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	17150207	GOA
located in cytoskeleton	IDA IDA: Inferred from direct assay	17150207	GOA
located in filopodium	IDA IDA: Inferred from direct assay	17150207	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names	Protein Names
rho family-interacting cell polarization regulator 2	family with sequence similarity 65 member B

RIPOR2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	RIPOR2	Q9Y4F9	RHOA	Homo sapiens	P61586	Y2H	21988832
Intra	RIPOR2	Q9Y4F9	RHOA	Homo sapiens	P61586	Validated Y2H	25416956
Intra	RIPOR2	Q9Y4F9	RHOC	Homo sapiens	P08134	Y2H Array	25416956
Intra	RIPOR2	Q9Y4F9	RHOC	Homo sapiens	P08134	Validated Y2H	25416956
Intra	RIPOR2	Q9Y4F9	RHOC	Homo sapiens	P08134	Y2H Prey Pooling	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Deafness, Autosomal Recessive 104	DFNB104 Autosomal Recessive Nonsyndromic Deafness 104 Autosomal Recessive Deafness 104 Deafness, Autosomal Recessive, 104 Deafness, Autosomal Recessive, Type 104
Deafness, Autosomal Dominant 21	DFNA21 Autosomal Dominant Nonsyndromic Deafness 21 Autosomal Dominant Deafness 21 Deafness, Autosomal Dominant, 21
Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb	Autosomal Recessive Isolated Neurosensory Deafness Type Dfnb Autosomal Recessive Isolated Neurosensory Hearing Loss Type Dfnb Autosomal Recessive Isolated Sensorineural Deafness Type Dfnb Autosomal Recessive Isolated Sensorineural Hearing Loss Type Dfnb Autosomal Recessive Non-Syndromic Neurosensory Deafness Type Dfnb Autosomal Recessive Non-Syndromic Neurosensory Hearing Loss Type Dfnb Autosomal Recessive Non-Syndromic Sensorineural Hearing Loss Type Dfnb
Deafness, Autosomal Recessive 44	DFNB44 Autosomal Recessive Nonsyndromic Deafness 44 Autosomal Recessive Deafness 44 Deafness, Autosomal Recessive, 44 Deafness, Autosomal Recessive, Type 44
Deafness, Autosomal Recessive 110	DFNB110 Autosomal Recessive Nonsyndromic Deafness 110 Autosomal Recessive Deafness 110 Deafness, Autosomal Recessive, 110
Dyslexia
Deafness, Autosomal Dominant 17	DFNA17 Autosomal Dominant Nonsyndromic Deafness 17 Deafness, Autosomal Dominant Nonsyndromic Sensorineural 17 Autosomal Dominant Deafness 17 Late-Onset Progressive Hereditary Hearing Impairment Due To Cochleosaccular Degeneration Nonsyndromic Hereditary Deafness Dfna17 Deafness, Autosomal Dominant, 17 Cochleosaccular Degeneration Deafness, Autosomal Dominant, Type 17 Cochleosaccular Degeneration Of The Inner Ear And Progressive Cataracts
Sensorineural Hearing Loss	Sensory Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss Disorder Hearing Loss, Sensorineural Central Hearing Loss High Frequency Deafness High Frequency Hearing Loss High-Frequency Hearing Loss Perceptive Deafness Perceptive Hearing Loss Perceptive Hearing Loss Or Deafness Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss High-Frequency Hearing Loss, Central Hearing Loss, High-Frequency
Autosomal Dominant Nonsyndromic Deafness	Autosomal Dominant Deafness

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Clinical Phase
Pre-clinical Phase

Clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Phase
HY-19764	GSK2983559 active metabolite	Inhibitor	98.86%	Phase 1
HY-112038	GSK2983559 free acid	Inhibitor	99.49%	Phase 1

Pre-clinical Phase

Bioactive Molecules (12)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-100339	GSK583	Inhibitor	99.93%	Unkown
HY-112038A	GSK2983559	Inhibitor	99.49%	Unkown
HY-N0600	Ginsenoside F3		99.84%	Unkown
HY-111870	PROTAC RIPK degrader-6	Inhibitor	99.01%	Unkown
HY-19761	RIP2 kinase inhibitor 2	Inhibitor	99.69%	Unkown
HY-112907	RIP2 Kinase Inhibitor 3	Inhibitor	99.76%	Unkown
HY-133014	RIP2 kinase inhibitor 1	Inhibitor	/	Unkown
HY-118316	GSK223	Inhibitor	/	Unkown
HY-136010	RIP2 Kinase Inhibitor 4	Inhibitor	/	Unkown
HY-147235	PROTAC RIPK2 Degrader-1	Inhibitor	/	Unkown
HY-184890	RIP2K-ligand-1	Ligand	/	Unkown
HY-RS12002	RIPOR2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	RIPOR2	RGD	RGD:1306939
Felis catus	RIPOR2	VGNC	VGNC:64643
Bos taurus	RIPOR2	VGNC	VGNC:54232
Macaca mulatta	RIPOR2	VGNC	VGNC:76730
Canis familiaris	RIPOR2	VGNC	VGNC:45597
Mus musculus	RIPOR2	MGD	MGI:2444879
Others	RIPOR2	NCBI