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
Ensembl
UniProt
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. ^ a b c GRCh38: Ensembl release 89: ENSG00000008853 - Ensembl, May 2017
  2. ^ a b c 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. ^ a b "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