RHOBTB2
Identifiers
AliasesRHOBTB2, DBC2, Rho related BTB domain containing 2, EIEE64, p83, DEE64
External IDsOMIM: 607352 MGI: 2180557 HomoloGene: 22873 GeneCards: RHOBTB2
Orthologs
SpeciesHumanMouse
Entrez

23221

246710

Ensembl

ENSG00000008853

ENSMUSG00000022075

UniProt

Q9BYZ6

Q91V93

RefSeq (mRNA)

NM_001160036
NM_001160037
NM_015178
NM_001374791

NM_153514

RefSeq (protein)

NP_001153508
NP_001153509
NP_055993
NP_001361720

NP_705734

Location (UCSC)Chr 8: 22.99 – 23.02 MbChr 14: 70.02 – 70.04 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Rho-related BTB domain-containing protein 2 is a protein that in humans is encoded by the RHOBTB2 gene.[5][6]

RHOBTB2 is a member of the evolutionarily-conserved RhoBTB subfamily of Rho GTPases. For background information on RhoBTBs, see RHOBTB1 (MIM 607351).[supplied by OMIM][6]

Clinical significance

Mutations affecting RHOBTB2 can cause epilepsy, learning difficulties and movement disorders.[7][8] RHOBTB2-related disorders are autosomal dominant, meaning only one of the two copies of the gene needs to be mutated to cause disease. The mutations usually occur de novo – that is, as a new mutation occurring in the affected individual rather than having been inherited.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000008853 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000022075 - 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. Rivero F, Dislich H, Glockner G, Noegel AA (Mar 2001). "The Dictyostelium discoideum family of Rho-related proteins". Nucleic Acids Res. 29 (5): 1068–79. doi:10.1093/nar/29.5.1068. PMC 29714. PMID 11222756.
  6. 1 2 "Entrez Gene: RHOBTB2 Rho-related BTB domain containing 2".
  7. Belal H, Nakashima M, Matsumoto H, et al. (2018). "De novo variants in RHOBTB2, an atypical Rho GTPase, cause epileptic encephalopathy". Hum Mutat. 39 (8): 1070–75. doi:10.1002/humu.23550. PMID 29768694.
  8. Zagaglia, Sara; Steel, Dora; Krithika, S; Hernandez-Hernandez, Laura; Custodio, Helena Martins; et al. (2021-01-27). "RHOBTB2 mutations expand the phenotypic spectrum of alternating hemiplegia of childhood". Neurology. 96 (11): e1539–e1550. doi:10.1212/WNL.0000000000011543. ISSN 0028-3878. PMC 8032376. PMID 33504645.

Further reading


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