RIPOR2 Chromosome 6
RHO family interacting cell polarization regulator 2
Upload your DNA to see your personal genotypes for variants in RIPOR2.
What This Gene Does
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]
Gene Info
Gene Group
Armadillo like helical domain containing
Locus Type
gene with protein product
Location
6p22.3
Ensembl
ENSG00000111913
Associated Conditions (2)
RIPOR2-related disorder
Autosomal recessive nonsyndromic hearing loss 104
Key Variants
RS1210578940
Conflicting classifications of pathogenicity
RIPOR2-related disorder, RIPOR2-related disorder
Health Risk
RS140410062
Conflicting classifications of pathogenicity
Health Risk
RS145166802
Conflicting classifications of pathogenicity
Health Risk
RS181654531
Conflicting classifications of pathogenicity
Health Risk
RS200262598
Conflicting classifications of pathogenicity
Health Risk
RS201901775
Conflicting classifications of pathogenicity
Health Risk
RS368504986
Conflicting classifications of pathogenicity
Health Risk
RS373913240
Conflicting classifications of pathogenicity
RIPOR2-related disorder, RIPOR2-related disorder
Health Risk
RS764795648
Conflicting classifications of pathogenicity
RIPOR2-related disorder, RIPOR2-related disorder
Health Risk
RS999278063
Conflicting classifications of pathogenicity
Health Risk
RS1389784921
Likely pathogenic
Autosomal recessive nonsyndromic hearing loss 104, Autosomal recessive nonsyndromic hearing loss 104
Health Risk
RS875989828
Pathogenic
Autosomal recessive nonsyndromic hearing loss 104, Autosomal recessive nonsyndromic hearing loss 104
Health Risk
All Variants (12)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1210578940 | Health Risk | Conflicting classifications of pathogenicity | RIPOR2-related disorder, RIPOR2-related disorder |
| RS140410062 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS145166802 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS181654531 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200262598 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201901775 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS368504986 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS373913240 | Health Risk | Conflicting classifications of pathogenicity | RIPOR2-related disorder, RIPOR2-related disorder |
| RS764795648 | Health Risk | Conflicting classifications of pathogenicity | RIPOR2-related disorder, RIPOR2-related disorder |
| RS999278063 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1389784921 | Health Risk | Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 104, Autosomal recessive nonsyndromic hearing loss 104 |
| RS875989828 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 104, Autosomal recessive nonsyndromic hearing loss 104 |