RHOBTB2 - Rho related BTB domain containing 2 Gene

Homo sapiens

Also known as p83; DBC2; DEE64; EIEE64

Gene ID: 23221 | Gene type: protein coding

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	Reference	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

Bioactive Molecules (1)

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

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