Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	23221
Gene name	Rho related BTB domain containing 2
Gene symbol	RHOBTB2
Synonyms (NCBI Gene)	DBC2DEE64EIEE64p83
Chromosome	8
Chromosome location	8p21.3
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 som

Show/Hide all (6)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1554504656	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1554504663	G>A	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs1554504678	A>G	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1554504681	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1554504684	G>A	Pathogenic	Coding sequence variant, missense variant
rs1563292586	C>T	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant

128

Show/Hide all (128)

miRTarBase ID	miRNA	Experiments	Reference
MIRT044286	hsa-miR-106b-5p	CLASH	23622248
MIRT039445	hsa-miR-421	CLASH	23622248
MIRT1305437	hsa-miR-1285	CLIP-seq
MIRT1305438	hsa-miR-1293	CLIP-seq
MIRT1305439	hsa-miR-1470	CLIP-seq
MIRT1305440	hsa-miR-1912	CLIP-seq
MIRT1305441	hsa-miR-2861	CLIP-seq
MIRT1305442	hsa-miR-3163	CLIP-seq
MIRT1305443	hsa-miR-3187-5p	CLIP-seq
MIRT1305444	hsa-miR-3189-5p	CLIP-seq
MIRT1305445	hsa-miR-3192	CLIP-seq
MIRT1305446	hsa-miR-3200-5p	CLIP-seq
MIRT1305447	hsa-miR-3614-5p	CLIP-seq
MIRT1305448	hsa-miR-3662	CLIP-seq
MIRT1305449	hsa-miR-3667-3p	CLIP-seq
MIRT1305450	hsa-miR-378g	CLIP-seq
MIRT1305451	hsa-miR-4268	CLIP-seq
MIRT1305452	hsa-miR-4300	CLIP-seq
MIRT1305453	hsa-miR-4314	CLIP-seq
MIRT1305454	hsa-miR-432	CLIP-seq
MIRT1305455	hsa-miR-4469	CLIP-seq
MIRT1305456	hsa-miR-4483	CLIP-seq
MIRT1305457	hsa-miR-4486	CLIP-seq
MIRT1305458	hsa-miR-4488	CLIP-seq
MIRT1305459	hsa-miR-4492	CLIP-seq
MIRT1305460	hsa-miR-4498	CLIP-seq
MIRT1305461	hsa-miR-4505	CLIP-seq
MIRT1305462	hsa-miR-4633-3p	CLIP-seq
MIRT1305463	hsa-miR-4667-3p	CLIP-seq
MIRT1305464	hsa-miR-4682	CLIP-seq
MIRT1305465	hsa-miR-4685-5p	CLIP-seq
MIRT1305466	hsa-miR-4691-5p	CLIP-seq
MIRT1305467	hsa-miR-4697-5p	CLIP-seq
MIRT1305468	hsa-miR-4755-3p	CLIP-seq
MIRT1305469	hsa-miR-4756-3p	CLIP-seq
MIRT1305470	hsa-miR-4758-3p	CLIP-seq
MIRT1305471	hsa-miR-4785	CLIP-seq
MIRT1305472	hsa-miR-574-5p	CLIP-seq
MIRT1305473	hsa-miR-577	CLIP-seq
MIRT1305474	hsa-miR-612	CLIP-seq
MIRT1305475	hsa-miR-762	CLIP-seq
MIRT1305476	hsa-miR-890	CLIP-seq
MIRT1305477	hsa-miR-920	CLIP-seq
MIRT1305478	hsa-miR-1193	CLIP-seq
MIRT1305479	hsa-miR-1207-3p	CLIP-seq
MIRT1305480	hsa-miR-1207-5p	CLIP-seq
MIRT1305481	hsa-miR-15a	CLIP-seq
MIRT1305482	hsa-miR-15b	CLIP-seq
MIRT1305483	hsa-miR-16	CLIP-seq
MIRT1305484	hsa-miR-18a	CLIP-seq
MIRT1305485	hsa-miR-18b	CLIP-seq
MIRT1305486	hsa-miR-195	CLIP-seq
MIRT1305487	hsa-miR-214	CLIP-seq
MIRT1305488	hsa-miR-2467-3p	CLIP-seq
MIRT1305489	hsa-miR-3144-5p	CLIP-seq
MIRT1305490	hsa-miR-3165	CLIP-seq
MIRT1305491	hsa-miR-3191	CLIP-seq
MIRT1305492	hsa-miR-326	CLIP-seq
MIRT1305493	hsa-miR-330-5p	CLIP-seq
MIRT1305494	hsa-miR-342-5p	CLIP-seq
MIRT1305495	hsa-miR-3619-5p	CLIP-seq
MIRT1305496	hsa-miR-3691-5p	CLIP-seq
MIRT1305497	hsa-miR-3925-3p	CLIP-seq
MIRT1305498	hsa-miR-424	CLIP-seq
MIRT1305499	hsa-miR-4493	CLIP-seq
MIRT1305500	hsa-miR-4651	CLIP-seq
MIRT1305501	hsa-miR-4652-5p	CLIP-seq
MIRT1305502	hsa-miR-4664-5p	CLIP-seq
MIRT1305503	hsa-miR-4667-5p	CLIP-seq
MIRT1305504	hsa-miR-4700-5p	CLIP-seq
MIRT1305505	hsa-miR-4735-3p	CLIP-seq
MIRT1305506	hsa-miR-4736	CLIP-seq
MIRT1305507	hsa-miR-4763-3p	CLIP-seq
MIRT1305508	hsa-miR-497	CLIP-seq
MIRT1305509	hsa-miR-608	CLIP-seq
MIRT1305510	hsa-miR-637	CLIP-seq
MIRT1305511	hsa-miR-761	CLIP-seq
MIRT1305512	hsa-miR-766	CLIP-seq
MIRT2090372	hsa-miR-103a	CLIP-seq
MIRT2090373	hsa-miR-107	CLIP-seq
MIRT2090374	hsa-miR-1256	CLIP-seq
MIRT2090375	hsa-miR-125a-5p	CLIP-seq
MIRT2090376	hsa-miR-125b	CLIP-seq
MIRT2090377	hsa-miR-136	CLIP-seq
MIRT1305481	hsa-miR-15a	CLIP-seq
MIRT1305482	hsa-miR-15b	CLIP-seq
MIRT1305483	hsa-miR-16	CLIP-seq
MIRT1305486	hsa-miR-195	CLIP-seq
MIRT2090378	hsa-miR-2278	CLIP-seq
MIRT2090379	hsa-miR-3183	CLIP-seq
MIRT1305492	hsa-miR-326	CLIP-seq
MIRT1305493	hsa-miR-330-5p	CLIP-seq
MIRT1305498	hsa-miR-424	CLIP-seq
MIRT1305451	hsa-miR-4268	CLIP-seq
MIRT2090380	hsa-miR-4319	CLIP-seq
MIRT2090381	hsa-miR-4650-5p	CLIP-seq
MIRT2090382	hsa-miR-4723-3p	CLIP-seq
MIRT2090383	hsa-miR-4732-3p	CLIP-seq
MIRT1305508	hsa-miR-497	CLIP-seq
MIRT2090384	hsa-miR-670	CLIP-seq
MIRT1305451	hsa-miR-4268	CLIP-seq
MIRT2315256	hsa-miR-1200	CLIP-seq
MIRT1305481	hsa-miR-15a	CLIP-seq
MIRT1305482	hsa-miR-15b	CLIP-seq
MIRT1305483	hsa-miR-16	CLIP-seq
MIRT2315257	hsa-miR-1827	CLIP-seq
MIRT2315258	hsa-miR-1910	CLIP-seq
MIRT1305486	hsa-miR-195	CLIP-seq
MIRT2315259	hsa-miR-2355-5p	CLIP-seq
MIRT1305441	hsa-miR-2861	CLIP-seq
MIRT2315260	hsa-miR-3074-5p	CLIP-seq
MIRT2315261	hsa-miR-3126-5p	CLIP-seq
MIRT2315262	hsa-miR-3140-5p	CLIP-seq
MIRT2315263	hsa-miR-3184	CLIP-seq
MIRT2315264	hsa-miR-3612	CLIP-seq
MIRT2315265	hsa-miR-3690	CLIP-seq
MIRT2315266	hsa-miR-423-5p	CLIP-seq
MIRT1305498	hsa-miR-424	CLIP-seq
MIRT2315267	hsa-miR-4254	CLIP-seq
MIRT1305508	hsa-miR-497	CLIP-seq
MIRT2315268	hsa-miR-650	CLIP-seq
MIRT2315269	hsa-miR-661	CLIP-seq
MIRT2458173	hsa-miR-3934	CLIP-seq
MIRT2458174	hsa-miR-4313	CLIP-seq
MIRT2458175	hsa-miR-4726-3p	CLIP-seq
MIRT2458173	hsa-miR-3934	CLIP-seq
MIRT2458174	hsa-miR-4313	CLIP-seq
MIRT2458175	hsa-miR-4726-3p	CLIP-seq

Show/Hide all (24)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0003924	Function	GTPase activity	IBA
GO:0003924	Function	GTPase activity	IEA
GO:0005515	Function	Protein binding	IPI	15107402, 26517842, 27941885, 29276004
GO:0005525	Function	GTP binding	IBA
GO:0005525	Function	GTP binding	IEA
GO:0005856	Component	Cytoskeleton	IBA
GO:0005886	Component	Plasma membrane	IBA
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IMP	27941885
GO:0007015	Process	Actin filament organization	IBA
GO:0007163	Process	Establishment or maintenance of cell polarity	IBA
GO:0007165	Process	Signal transduction	IBA
GO:0007264	Process	Small GTPase-mediated signal transduction	IEA
GO:0008360	Process	Regulation of cell shape	IBA
GO:0010008	Component	Endosome membrane	IEA
GO:0010008	Component	Endosome membrane	TAS
GO:0016567	Process	Protein ubiquitination	IDA	27941885
GO:0019901	Function	Protein kinase binding	IBA
GO:0030865	Process	Cortical cytoskeleton organization	IBA
GO:0031410	Component	Cytoplasmic vesicle	IBA
GO:0031463	Component	Cul3-RING ubiquitin ligase complex	IDA	27941885
GO:0032956	Process	Regulation of actin cytoskeleton organization	IBA
GO:0042995	Component	Cell projection	IBA
GO:1990756	Function	Ubiquitin-like ligase-substrate adaptor activity	IDA	27941885

MIM	HGNC	e!Ensembl
607352	18756	ENSG00000008853

Q9BYZ6

Protein name

Rho-related BTB domain-containing protein 2 (Deleted in breast cancer 2 gene protein) (p83)

Protein function

Regulator of cell proliferation and apoptosis (PubMed:21801820). It likely functions as a substrate-adapter that recruits key substrates, e.g. MSI2, to CUL3-based ubiquitin ligase complexes for degradation (PubMed:15107402, PubMed:27941885). Req

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00071	Ras	16 → 209	Ras family	Domain
PF00651	BTB	381 → 472	BTB/POZ domain	Domain
PF00651	BTB	490 → 598	BTB/POZ domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous, with highest levels in neural tissues. Expression is also detected in fetal lung, heart, and brain. {ECO:0000269|PubMed:12426103}.

Sequence

MDSDMDYERPNVETIKCVVVGDNAVGKTRLICARACNATLTQYQLLATHVPTVWAIDQYR
VCQEVLERSRDVVDDVSVSLRLWDTFGDHHKDRRFAYGRSDVVVLCFSIANPNSLHHVKT
MWYPEIKHFCPRAPVILVGCQLDLRYADLEAVNRARRPLARPIKPNEILPPEKGREVAKE
LGIPYYETSVVAQFGIKDVFDNAIRAALISRRHLQFWKSHLRNVQRPLLQAPFLPPKPPP
PIIVVPDPPSSSEECPAHLLEDPLCADVILVLQERVRIFAHKIYLSTSSSKFYDLFLMDL
SEGELGGPSEPGGTHPEDHQGHSDQHHHHHHHHHGRDFLLRAASFDVCESVDEAGGSGPA
GLRASTSDGILRGNGTGYLPGRGRVLSSWSRAFVSIQEEMAEDPLTYKSRLMVVVKMDSS
IQPGPFRAVLKYLYTGELDENERDLMHIAHIAELLEVFDLRMMVANILNNEAFMNQEITK
AFHVRRTNRVKECLAKGTFSDVTFILDDGTISAHKPLLISSCDWMAAMFGGPFVESSTRE
VVFPYTSKSCMRAVLEYLYTGMFTSSPDLDDMKLIILANRLCLPHLVALTEQYTVTGLME
ATQMMVDIDGDVLVFLELAQFHCAYQLADWCLHHICTNYNNVCRKFPRDMKAMSPENQEY
FEKHRWPPVWYLKEEDHYQRARKEREKEDYLHLKRQPKRRWLFWNSPSSPSSSAASSSSP
SSSSAVV

Sequence length

727

Interactions

View interactions

	KEGG		Reactome
	Ubiquitin mediated proteolysis		Rho GTPase cycle

101

Show/Hide Causal Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Chorea	Pathogenic	rs1554504684	RCV001003967
Developmental and epileptic encephalopathy, 64	Likely pathogenic; Pathogenic	rs2486999040, rs1342073189, rs1554504681, rs1554504678, rs1554504663, rs1554504684, rs1554504656, rs1563292586, rs1585190351	RCV004799683 RCV003335875 RCV000656374 RCV000656375 RCV000656372 RCV000656373 RCV000656376 RCV000755717 RCV000984965 RCV001775156
Dystonic disorder	Pathogenic	rs1554504684	RCV001003967
Rett syndrome	Likely pathogenic; Pathogenic	rs1554504681	RCV000585816
RHOBTB2-related disorder	Pathogenic	rs2486999107	RCV003901269
See cases	Likely pathogenic	rs2486998975	RCV003224925
Seizure	Likely pathogenic; Pathogenic	rs1554504681, rs1554504663	RCV005624416 RCV005624418

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Prostate cancer	Uncertain significance	rs193920745	RCV000149074

Show/Hide Text Mining Associations (23)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma of Lung	Inhibit	22901165
Alternating hemiplegia of childhood	Associate	33504645
Arthritis	Associate	8567889
Ataxia	Associate	33504645
Breast Neoplasms	Associate	12370419, 17023000, 17517369, 17617377, 24485767, 27941885, 35698915
Breast Neoplasms	Inhibit	20930524, 24608665
Developmental Disabilities	Associate	26740508, 37165955
Dystonia	Associate	33504645
Epilepsy	Associate	33504645
Epileptic Encephalopathy Early Infantile 3	Associate	31957018, 35315256, 37165955
Intellectual Disability	Associate	33504645, 37165955
Intervertebral Disc Degeneration	Associate	23661466
Leukemia Myeloid Acute	Associate	34074803
Leukemia Promyelocytic Acute	Stimulate	34074803
Lyme Disease	Associate	8567889
Microcephaly	Associate	35315256
Movement Disorders	Associate	33504645
Neoplasms	Inhibit	12370419, 17023000, 17517369, 17617377, 22901165, 23062488, 24608665, 26483173, 27941885, 35698915
Neoplasms	Associate	20930524, 28219369
Neurologic Manifestations	Associate	35315256
Rett Syndrome	Associate	26740508
Seizures	Associate	37165955
Signs and Symptoms Digestive	Associate	33504645

RHOBTB2 (Rho related BTB domain containing 2)