RIPOR2

Protein-coding gene in humans
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
Gene location (Human)
Chromosome 6 (human)
Chr.Chromosome 6 (human)[1]
Chromosome 6 (human)
Genomic location for RIPOR2
Genomic location for RIPOR2
Band6p22.3Start24,804,282 bp[1]
End25,042,170 bp[1]
Gene location (Mouse)
Chromosome 13 (mouse)
Chr.Chromosome 13 (mouse)[2]
Chromosome 13 (mouse)
Genomic location for RIPOR2
Genomic location for RIPOR2
Band13|13 A3.1Start24,685,508 bp[2]
End24,917,799 bp[2]
RNA expression pattern
Bgee
HumanMouse (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
SpeciesHumanMouse
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 MbChr 13: 24.69 – 24.92 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000111913 – Ensembl, May 2017
  2. ^ a b c 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

  • 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.


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