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

RIPOR2
Identifiers
AliasesRIPOR2, C6orf32, DIFF40, DIFF48, MYONAP, PL48, FAM65B, DFNB104, family with sequence similarity 65 member B, RHO family interacting cell polarization regulator 2, DFNA21
External IDsOMIM: 611410; MGI: 2444879; HomoloGene: 9284; GeneCards: RIPOR2; OMA:RIPOR2 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001080381
NM_001286100
NM_001286101
NM_029679
NM_178658

RefSeq (protein)
Location (UCSC)Chr 6: 24.8 – 25.04 MbChr 13: 24.69 – 24.92 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Function

edit

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

edit

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

References

edit
  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000111913Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000036006Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ "Entrez Gene: Family with sequence similarity 65, member B".
  6. ^ Diaz-Horta O, Subasioglu-Uzak A, Grati M, DeSmidt A, Foster J, Cao L, Bademci G, Tokgoz-Yilmaz S, Duman D, Cengiz FB, Abad C, Mittal R, Blanton S, Liu XZ, Farooq A, Walz K, Lu Z, Tekin M (July 2014). "FAM65B is a membrane-associated protein of hair cell stereocilia required for hearing". Proceedings of the National Academy of Sciences of the United States of America. 111 (27): 9864–8. Bibcode:2014PNAS..111.9864D. doi:10.1073/pnas.1401950111. PMC 4103326. PMID 24958875.

Further reading

edit

This article incorporates text from the United States National Library of Medicine, which is in the public domain.