The RHOBTB2 gene homepage

General information
Gene symbol RHOBTB2
Gene name Rho-related BTB domain containing 2
Chromosome 8
Chromosomal band p21.2
Imprinted Unknown
Genomic reference NG_047133.1
Transcript reference NM_001160036.1
Exon/intron information NM_001160036.1 exon/intron table
Associated with diseases EIEE, EIEE64
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 71
Unique public DNA variants reported 49
Individuals with public variants 40
Hidden variants 2
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created May 03, 2013
Date last updated July 08, 2025
Version RHOBTB2:250708

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_001160036.1.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL https://www.LOVD.nl/RHOBTB2
HGNC HGNC:18756
Entrez Gene 23221
PubMed articles RHOBTB2
OMIM - Gene 607352
OMIM - Diseases EIEE64 (encephalopathy, epileptic, early infantile, type 64 (EIEE-64))
HGMD RHOBTB2
GeneCards RHOBTB2
NIH Genetic Testing Registry RHOBTB2
Orphanet RHOBTB2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00017742 8 transcript variant 1 NM_001160036.1 NP_001153508.1 71


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