RIPOR2

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)
End	25,042,170 bp
Gene location (Mouse)
Chr.	Chromosome 13 (mouse)
End	24,917,799 bp
RNA expression pattern
	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
	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
	9750
	193385
	ENSG00000111913
	ENSMUSG00000036006
	Q9Y4F9
	Q80U16
NM_001286445; NM_001286446; NM_001286447; NM_014722; NM_015864;
	NM_001346031; NM_001346032
	NM_001080381; NM_001286100; NM_001286101; NM_029679; NM_178658
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
	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]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000111913 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000036006 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Entrez Gene: Family with sequence similarity 65, member B".
^ 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.

Morrish DW, Dakour J, Li H (September 2001). "Life and death in the placenta: new peptides and genes regulating human syncytiotrophoblast and extravillous cytotrophoblast lineage formation and renewal". Current Protein & Peptide Science. 2 (3): 245–59. doi:10.2174/1389203013381116. PMID 12369935.
Morrish DW, Dakour J, Li H (August 1998). "Functional regulation of human trophoblast differentiation". Journal of Reproductive Immunology. 39 (1–2): 179–95. doi:10.1016/s0165-0378(98)00021-7. PMID 9786461.
Zhang K, Waxman DJ (December 2010). "PC3 prostate tumor-initiating cells with molecular profile FAM65Bhigh/MFI2low/LEF1low increase tumor angiogenesis". Molecular Cancer. 9: 319. doi:10.1186/1476-4598-9-319. PMC 3024252. PMID 21190562.
Dakour J, Li H, Morrish DW (February 1997). "PL48: a novel gene associated with cytotrophoblast and lineage-specific HL-60 cell differentiation". Gene. 185 (2): 153–7. doi:10.1016/s0378-1119(96)00587-2. PMID 9055809.
Hirayama E, Kim J (March 2008). "Identification and characterization of a novel neural cell adhesion molecule (NCAM)-associated protein from quail myoblasts: relationship to myotube formation and induction of neurite-like protrusions". Differentiation; Research in Biological Diversity. 76 (3): 253–66. doi:10.1111/j.1432-0436.2007.00215.x. PMID 17825087.
Kang SJ, Rangaswamy M, Manz N, Wang JC, Wetherill L, Hinrichs T, Almasy L, Brooks A, Chorlian DB, Dick D, Hesselbrock V, Kramer J, Kuperman S, Nurnberger J, Rice J, Schuckit M, Tischfield J, Bierut LJ, Edenberg HJ, Goate A, Foroud T, Porjesz B (August 2012). "Family-based genome-wide association study of frontal θ oscillations identifies potassium channel gene KCNJ6". Genes, Brain and Behavior. 11 (6): 712–9. doi:10.1111/j.1601-183X.2012.00803.x. PMC 3666338. PMID 22554406.
Yoon S, Molloy MJ, Wu MP, Cowan DB, Gussoni E (January 2007). "C6ORF32 is upregulated during muscle cell differentiation and induces the formation of cellular filopodia". Developmental Biology. 301 (1): 70–81. doi:10.1016/j.ydbio.2006.11.002. PMC 1779902. PMID 17150207.

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

This article on a gene on human chromosome 6 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000111913 – Ensembl, May 2017

[refGRCm38Ensembl-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.

[entrez-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.

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Function

Clinical significance

References

Further reading