RHO-Related BTB Domain-Containing Protein 2

Alternative Names

RHOBTB2
Deleted in Breast Cancer 2
DBC2
KIAA0717

Length

32,949 bases

No. of Exons

No. of isoforms

Protein Name

Rho-related BTB domain-containing protein 2

Molecular Mass

82626 Da

Amino Acid Count

727

Genomic Location

chr8:22,987,250-23,020,198

Gene Map Locus

8p21.3

Description

The protein encoded by this gene is a small Rho GTPase and a candidate tumor suppressor. The encoded protein interacts with the cullin-3 protein, a ubiquitin E3 ligase necessary for mitotic cell division. This protein inhibits the growth and spread of some types of breast cancer. Three transcript variants encoding different isoforms have been found for this gene. [From RefSeq]

Epidemiology in the Arab World

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Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_001160036.1:c.1477G>A	United Arab Emirates	NC_000008.11:g.23007656G>A		Likely Pathogenic	Developmental and Epileptic Encephalopathy 64	NG_047133.1:g.25399G>A; NM_001160036.1:c.1477G>A; NP_001153508.1:p.Glu493Lys
NM_015178.3:c.394C>T	Saudi Arabia	NC_000008.11:g.23006057C>T	Uncertain Significance	Pathogenic	Developmental and Epileptic Encephalopathy 64	NG_047133.1:g.23800C>T; NM_015178.3:c.394C>T; NP_055993.2:p.Arg132Ter	1585190351	800793

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External Links

https://www.genecards.org/cgi-bin/carddisp.pl?gene=rhobtb2

Contributors

Pratibha Nair: 22.09.2021

Edit History

Pratibha Nair: 22.09.2021

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