RIPOR2

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
Orthologs
SpeciesHumanMouse
Entrez

9750

193385

Ensembl

ENSG00000111913

ENSMUSG00000036006

UniProt

Q9Y4F9

Q80U16

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

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]

References

  1. GRCh38: Ensembl release 89: ENSG00000111913 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000036006 - Ensembl, 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

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


This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.