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RHOBTB2 - Rho related BTB domain containing 2 Gene

Also Known as p83; DBC2; DEE64; EIEE64

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 23221

About RHOBTB2

Cytogenetic location: 8p21.3 Genomic coordinates (GRCh38): 8:22,950,813-23,020,199 (from NCBI)

This gene has 10 transcripts (splice variants), 206 orthologues, 22 paralogues and is associated with 2 phenotypes. Broad expression in lung (RPKM 11.1), brain (RPKM 8.7) and 22 other tissues.

Summary

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. [provided by RefSeq, Nov 2011]

RHOBTB2 Products (4)

mRNA	Protein	Name
NM_001160036.2	NP_001153508.1	rho-related BTB domain-containing protein 2 isoform 1
NM_001160037.2	NP_001153509.1	rho-related BTB domain-containing protein 2 isoform 2
NM_001374791.1	NP_001361720.1	rho-related BTB domain-containing protein 2 isoform 3
NM_015178.3	NP_055993.2	rho-related BTB domain-containing protein 2 isoform 3

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	26517842	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

RHOBTB2 Protein Structure

Ras

BTB

0
200
400
600
727 a.a.

Protein Preferred Names	Protein Names
rho-related BTB domain-containing protein 2	deleted in breast cancer 2 gene protein

Related Diseases

Diseases	Alias
Developmental And Epileptic Encephalopathy 64	DEE64 Epileptic Encephalopathy, Early Infantile, 64 Eiee64 Developmental And Epileptic Encephalopathy, 64 Early Infantile Epileptic Encephalopathy-64 Encephalopathy, Epileptic, Early Infantile, Type 64
Choreatic Disease	Chorea Hereditary Chorea
Dystonia	Dystonic Disease Dystonic Disorder Dystonia Disorders Neuroleptic Dyskinesia
Rett Syndrome	Atypical Rett Syndrome RTT Rett Disorder Rts Autism, Dementia, Ataxia, And Loss Of Purposeful Hand Use Rett Syndrome, Preserved Speech Variant Rett Syndrome, Atypical Rett'S Disorder Rett Syndrome Variant Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Syndrome Cerebroatrophic Hyperammonemia Rett Like Syndrome Rett'S Syndrome Atypical Rtt Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Rett Syndrome Preserved Speech Variant Rett Syndrome Zappella Variant Rett Syndrome, Zappella Variant
Developmental And Epileptic Encephalopathy	Encephalopathy, Developmental And Epileptic
Acrodermatitis Chronica Atrophicans	Acrodermatitis Atrophicans Chronica Herxheimer Disease Primary Diffuse Atrophy
Hemiplegia	Infantile Hemiplegia Postnatal Infantile Hemiplegia Hemiplegia, Infantile
Breast Cancer	Breast Carcinoma Male Breast Cancer Breast Cancer, Familial Malignant Neoplasm Of Breast Breast Cancer, Susceptibility To Breast Cancer, Early-Onset Malignant Tumor Of Breast Carcinoma Of Male Breast Breast Cancer, Invasive Ductal Breast Cancer, Protection Against Breast Cancer, Somatic Breast Cancer, Male Breast Cancer, Lobular, Somatic Breast Tumor Mammary Cancer Mammary Tumor Malignant Neoplasm Of Male Breast Mammary Carcinoma Male Breast Carcinoma Familial Cancer Of Breast Invasive Ductal Breast Carcinoma Breast Cancer Susceptibility Breast Cancer, Male, Susceptibility To Breast Cancer, Early-Onset, Susceptibility To Malignant Tumor Of The Breast Mammary Neoplasm Primary Breast Cancer Neoplasm Of Male Breast Carcinoma Of Breast Breast Cancer In Men Familial Breast Cancer Cancer Of Breast BC Breast Cancer Familial Breast Cancer Familial Male Breast Cancer, Familial Male Breast Male Carcinoma Breast Neoplasms Breast Neoplasms, Male Mammary Tumors Mammary Carcinomas Cancer, Breast Cancer, Breast, Susceptibility Invasive Breast Ductal Carcinoma Breast Neoplasm Susceptibility To Breast Cancer Mammary Neoplasms Animal Mammary Neoplasms Primary Malignant Neoplasm Of Breast Infiltrating Ductal Carcinoma Of Breast Infiltrating Duct Carcinoma Of Unspecified Site Infiltrating Ductular Carcinoma Of Unspecified Site Invasive Breast Carcinoma Of No Special Type Microinvasive Carcinoma Of Breast Carcinoma With Apocrine Differentiation
Toxic Megacolon	Megacolon, Toxic Toxic Dilatation Of Colon Toxic Functional Megacolon
Alternating Hemiplegia Of Childhood	Alternating Hemiplegia Ahc Alternating Hemiplegia Syndrome Hemiplegia, Alternating, Of Childhood Hemiplegia, Crossed

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS11948	RHOBTB2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	RHOBTB2	MGD	MGI:2180557
Macaca mulatta	RHOBTB2	VGNC	VGNC:76772
Felis catus	RHOBTB2	VGNC	VGNC:64614
Canis familiaris	RHOBTB2	VGNC	VGNC:45557
Rattus norvegicus	RHOBTB2	RGD	RGD:1309924