RIPOR2

Last updated
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
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001080381
NM_001286100
NM_001286101
NM_029679
NM_178658

Contents

RefSeq (protein)
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

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

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]

Related Research Articles

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References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000111913 - Ensembl, May 2017
  2. 1 2 3 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.