RHOBTB2

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

RHOBTB2
Identifiers
AliasesRHOBTB2, DBC2, Rho related BTB domain containing 2, EIEE64
External IDsOMIM: 607352 MGI: 2180557 HomoloGene: 22873 GeneCards: RHOBTB2
Gene location (Human)
Chr.Chromosome 8 (human)[1]
Band8p21.3Start22,987,417 bp[1]
End23,020,199 bp[1]
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

23221

246710

Ensembl

ENSG00000008853

ENSMUSG00000022075

UniProt

Q9BYZ6

Q91V93

RefSeq (mRNA)

NM_001160036
NM_001160037
NM_015178

NM_153514

RefSeq (protein)

NP_001153508
NP_001153509
NP_055993

NP_705734

Location (UCSC)Chr 8: 22.99 – 23.02 MbChr 14: 69.78 – 69.81 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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]

Role in Disease

Mutations affecting RHOBTB2 can cause epilepsy, learning difficulties and movement disorders.[7] 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. GRCh38: Ensembl release 89: ENSG00000008853 - Ensembl, May 2017
  2. 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. "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.

Further reading


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