Gene

rhobtb2a

ID

ZDB-GENE-081105-67

Name

Rho related BTB domain containing 2a

Symbol

rhobtb2a Nomenclature History

Previous Names

si:dkey-263f15.2

Type

protein_coding_gene

Location

Chr: 8 Mapping Details/Browsers

Description

Predicted to enable GTP binding activity and GTPase activity. Predicted to act upstream of or within small GTPase-mediated signal transduction. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 64. Orthologous to human RHOBTB2 (Rho related BTB domain containing 2).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

1 figure from Salas-Vidal et al., 2005

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: No data available
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Allele	Type	Localization	Consequence	Mutagen	Supplier
sa16514	Allele with one point mutation	Unknown	Premature Stop	ENU	European Zebrafish Resource Center (EZRC) (order this) Zebrafish International Resource Center (ZIRC) (order this)
sa34501	Allele with one point mutation	Unknown	Premature Stop	ENU	Zebrafish International Resource Center (ZIRC) (order this) European Zebrafish Resource Center (EZRC) (order this)

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Sequence Targeting Reagents

No data available

Human Disease

Associated With rhobtb2a Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
developmental and epileptic encephalopathy 64	Alliance	Developmental and epileptic encephalopathy 64	618004

Associated With rhobtb2a Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

No data available

Domain Details Per Protein

No data available

Transcripts

Genome Browsers

NCBI

Ensembl

ZFIN

Genome Build: GRCz11Chromosome: 8

Type	Name	Annotation Method	Has Havana Data	Length (nt)	Analysis
mRNA	rhobtb2a-201 (1) Ensembl	Ensembl		396 nt	Select Tool ZFIN BLAST
mRNA	rhobtb2a-202 (1) Ensembl	Ensembl		1,411 nt	Select Tool ZFIN BLAST

Interactions and Pathways

No data available

Antibodies

No data available

Plasmids

No data available

Constructs

No data available

Marker Relationships

Relationship	Marker Type	Marker	Accession Numbers	Citations
Contained in	BAC	DKEY-263F15	CR855377	ZFIN Curated Data

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Sequences

Type	Accession #	Length (nt/aa)	Analysis
RNA	RefSeq:XM_068223046 (1)	1901 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
Genomic	GenBank:CR855377 (1)	107728 nt	Select Tool MegaBLAST Ensembl
Polypeptide	RefSeq:XP_068079147 (1)		Select Tool ZFIN BLAST NCBI BLAST UCSC BLAT Ensembl Protein Blast

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Species	Symbol	Chromosome	Accession #	Evidence
Human	RHOBTB2	8	Ensembl:ENSG00000008853 Gene:23221 HGNC:18756 OMIM:607352	Amino acid sequence comparison (1) Conserved genome location (synteny) (1) Phylogenetic tree (1)
Mouse	Rhobtb2	14	Ensembl:ENSMUSG00000022075 Gene:246710 MGI:2180557	Phylogenetic tree (1) Amino acid sequence comparison (1) Conserved genome location (synteny) (1)

Citations

Include unpublished citations

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