2. Gene
  3. RIPOR2 - RHO family interacting cell polarization regulator 2 Gene

RIPOR2 - RHO family interacting cell polarization regulator 2 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

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

Gene ID: 9750 | Gene type: protein coding

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
Protein Preferred Names Protein Names

rho family-interacting cell polarization regulator 2

family with sequence similarity 65 member B

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
Bioactive Molecules (3)
Cat. No. Product Name Effect
Purity Phase
HY-112038A GSK2983559 Inhibitor 98.82% Phase 1
HY-19764 GSK2983559 active metabolite Inhibitor 98.81% Phase 1
HY-112038 GSK2983559 free acid Inhibitor 99.90% Phase 1
Pre-clinical Phase
Bioactive Molecules (8)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-100339 GSK583 Inhibitor 98.74% Unkown
HY-111870 PROTAC RIPK degrader-6 Inhibitor 99.97% Unkown
HY-19761 RIP2 kinase inhibitor 2 Inhibitor 99.16% Unkown
HY-112907 RIP2 Kinase Inhibitor 3 Inhibitor 99.82% Unkown
HY-133014 RIP2 kinase inhibitor 1 Inhibitor / Unkown
HY-136010 RIP2 Kinase Inhibitor 4 Inhibitor / Unkown
HY-147235 RIPK2-IN-2 Inhibitor / Unkown
HY-RS12002 RIPOR2 Human Pre-designed siRNA Set A / 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