RIPOR2

RHO family interacting cell polarization regulator 2 is a protein that in humans is encoded by the RIPOR2 gene.^[5]

RIPOR2
Identifiers
Aliases	RIPOR2, C6orf32, DIFF40, DIFF48, MYONAP, PL48, FAM65B, DFNB104, family with sequence similarity 65 member B, RHO family interacting cell polarization regulator 2, DFNA21
External IDs	OMIM: 611410; MGI: 2444879; HomoloGene: 9284; GeneCards: RIPOR2; OMA:RIPOR2 - orthologs
Gene location (Human) Chr. Chromosome 6 (human)[1] Band 6p22.3 Start 24,804,282 bp[1] End 25,042,170 bp[1]
Gene location (Mouse) Chr. Chromosome 13 (mouse)[2] Band 13|13 A3.1 Start 24,685,508 bp[2] End 24,917,799 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in blood monocyte granulocyte bronchial epithelial cell spleen appendix lymph node bone marrow cells epithelium of nasopharynx body of uterus Top expressed in lateral septal nucleus granulocyte subiculum lymph node nucleus accumbens spleen mesenteric lymph nodes blood medial dorsal nucleus Region I of hippocampus proper More reference expression data BioGPS n/a
Gene ontology Molecular function protein binding 14-3-3 protein binding identical protein binding Cellular component plasma membrane cell projection membrane cytoplasm apical plasma membrane cytoskeleton filopodium stereocilium stereocilium membrane Biological process multicellular organism development cell differentiation muscle organ development hearing skeletal muscle fiber development positive regulation of myoblast differentiation positive regulation of myoblast fusion negative regulation of establishment of T cell polarity negative regulation of T cell migration negative regulation of T cell proliferation regulation of mitotic spindle assembly chemotaxis cell adhesion negative regulation of signal transduction negative regulation of cell adhesion negative regulation of Rho protein signal transduction positive regulation of filopodium assembly positive regulation of neutrophil chemotaxis negative regulation of protein localization to cell leading edge cellular response to chemokine regulation of establishment of cell polarity positive regulation of neutrophil extravasation negative regulation of Rho guanyl-nucleotide exchange factor activity establishment of protein localization protein homooligomerization auditory receptor cell stereocilium organization cellular response to mechanical stimulus Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 9750 193385 Ensembl ENSG00000111913 ENSMUSG00000036006 UniProt Q9Y4F9 Q80U16 RefSeq (mRNA) NM_001286445 NM_001286446 NM_001286447 NM_014722 NM_015864 NM_001346031 NM_001346032 NM_001080381 NM_001286100 NM_001286101 NM_029679 NM_178658 RefSeq (protein) NP_001273374 NP_001273375 NP_001273376 NP_001332960 NP_001332961 NP_055537 NP_056948 NP_001073850 NP_001273029 NP_001273030 NP_083955 NP_848773 NP_001389841 NP_001389842 NP_001389843 NP_001389844 NP_001389845 NP_001389846 NP_001389847 NP_001389848 Location (UCSC) Chr 6: 24.8 – 25.04 Mb Chr 13: 24.69 – 24.92 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Function

The protein encoded by this gene stimulates the formation of a non-mitotic multinucleate syncytium from proliferative cytotrophoblasts during trophoblast differentiation. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Nov 2013].

Clinical significance

Mutations in RIPOR2 are associated to hearing loss.^[6]