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Entry version 165 (16 Oct 2019)
Sequence version 2 (28 Nov 2002)
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Protein

Rho-related BTB domain-containing protein 2

Gene

RHOBTB2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi21 – 28GTPSequence analysis8
Nucleotide bindingi84 – 88GTPSequence analysis5
Nucleotide bindingi140 – 143GTPSequence analysis4

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

LigandGTP-binding, Nucleotide-binding

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-194840 Rho GTPase cycle

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Rho-related BTB domain-containing protein 2
Alternative name(s):
Deleted in breast cancer 2 gene protein
p83
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:RHOBTB2
Synonyms:DBC2, KIAA0717
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 8

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:18756 RHOBTB2

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
607352 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9BYZ6

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Epileptic encephalopathy, early infantile, 64 (EIEE64)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. EIEE64 is an autosomal dominant form characterized by onset of seizures usually in the first year of life. Seizure types are variable and include focal dyscognitive and generalized tonic-clonic seizures, as well as febrile seizures in the mildest affected individuals. Seizures tend to respond to medical treatment.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_080812452A → G in EIEE64; reduced RHOBTB2 proteasomal degradation; does not affect interaction with CUL3. 1 PublicationCorresponds to variant dbSNP:rs1554504656Ensembl.1
Natural variantiVAR_080813461R → H in EIEE64; reduced RHOBTB2 proteasomal degradation; does not affect interaction with CUL3. 2 PublicationsCorresponds to variant dbSNP:rs1554504663Ensembl.1
Natural variantiVAR_080814485R → C in EIEE64; decreased proteasomal degradation; does not affect interaction with CUL3. 1 Publication1
Natural variantiVAR_079030488N → D in EIEE64; also found in a patient with Rett syndrome-like phenotype. 2 PublicationsCorresponds to variant dbSNP:rs1554504678Ensembl.1
Natural variantiVAR_080815489R → Q in EIEE64; reduced RHOBTB2 proteasomal degradation; does not affect interaction with CUL3. 2 PublicationsCorresponds to variant dbSNP:rs1554504684Ensembl.1
Natural variantiVAR_080816489R → W in EIEE64. 1 PublicationCorresponds to variant dbSNP:rs1554504681Ensembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi284Y → D: Results in decreased interaction with CUL3. 1 Publication1

Keywords - Diseasei

Disease mutation, Epilepsy

Organism-specific databases

DisGeNET

More...
DisGeNETi
23221

MalaCards human disease database

More...
MalaCardsi
RHOBTB2
MIMi618004 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000008853

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA38678

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9BYZ6

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
RHOBTB2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
26006845

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001989621 – 727Rho-related BTB domain-containing protein 2Add BLAST727

Proteomic databases

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q9BYZ6

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q9BYZ6

PeptideAtlas

More...
PeptideAtlasi
Q9BYZ6

PRoteomics IDEntifications database

More...
PRIDEi
Q9BYZ6

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
19297
19901
79744 [Q9BYZ6-1]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9BYZ6

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q9BYZ6

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Ubiquitous, with highest levels in neural tissues. Expression is also detected in fetal lung, heart, and brain.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000008853 Expressed in 157 organ(s), highest expression level in upper lobe of left lung

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9BYZ6 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9BYZ6 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA060938

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with HSP90AA1 and HSP90AB1 (PubMed:26517842).

Interacts with CUL3 (PubMed:29276004).

2 Publications

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
116828, 29 interactors

Protein interaction database and analysis system

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IntActi
Q9BYZ6, 13 interactors

Molecular INTeraction database

More...
MINTi
Q9BYZ6

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000427926

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q9BYZ6

Database of comparative protein structure models

More...
ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini266 – 442BTB 1PROSITE-ProRule annotationAdd BLAST177
Domaini500 – 567BTB 2PROSITE-ProRule annotationAdd BLAST68

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni1 – 210Rho-likeAdd BLAST210

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the small GTPase superfamily. Rho family.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG0393 Eukaryota
COG1100 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000158918

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000007723

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9BYZ6

KEGG Orthology (KO)

More...
KOi
K07868

Identification of Orthologs from Complete Genome Data

More...
OMAi
HYRQDIY

Database of Orthologous Groups

More...
OrthoDBi
533443at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9BYZ6

TreeFam database of animal gene trees

More...
TreeFami
TF323347

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR000210 BTB/POZ_dom
IPR027417 P-loop_NTPase
IPR011333 SKP1/BTB/POZ_sf
IPR001806 Small_GTPase
IPR003578 Small_GTPase_Rho

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00651 BTB, 2 hits
PF00071 Ras, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00225 BTB, 2 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF52540 SSF52540, 1 hit
SSF54695 SSF54695, 2 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50097 BTB, 2 hits
PS51420 RHO, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9BYZ6-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MDSDMDYERP NVETIKCVVV GDNAVGKTRL ICARACNATL TQYQLLATHV
60 70 80 90 100
PTVWAIDQYR VCQEVLERSR DVVDDVSVSL RLWDTFGDHH KDRRFAYGRS
110 120 130 140 150
DVVVLCFSIA NPNSLHHVKT MWYPEIKHFC PRAPVILVGC QLDLRYADLE
160 170 180 190 200
AVNRARRPLA RPIKPNEILP PEKGREVAKE LGIPYYETSV VAQFGIKDVF
210 220 230 240 250
DNAIRAALIS RRHLQFWKSH LRNVQRPLLQ APFLPPKPPP PIIVVPDPPS
260 270 280 290 300
SSEECPAHLL EDPLCADVIL VLQERVRIFA HKIYLSTSSS KFYDLFLMDL
310 320 330 340 350
SEGELGGPSE PGGTHPEDHQ GHSDQHHHHH HHHHGRDFLL RAASFDVCES
360 370 380 390 400
VDEAGGSGPA GLRASTSDGI LRGNGTGYLP GRGRVLSSWS RAFVSIQEEM
410 420 430 440 450
AEDPLTYKSR LMVVVKMDSS IQPGPFRAVL KYLYTGELDE NERDLMHIAH
460 470 480 490 500
IAELLEVFDL RMMVANILNN EAFMNQEITK AFHVRRTNRV KECLAKGTFS
510 520 530 540 550
DVTFILDDGT ISAHKPLLIS SCDWMAAMFG GPFVESSTRE VVFPYTSKSC
560 570 580 590 600
MRAVLEYLYT GMFTSSPDLD DMKLIILANR LCLPHLVALT EQYTVTGLME
610 620 630 640 650
ATQMMVDIDG DVLVFLELAQ FHCAYQLADW CLHHICTNYN NVCRKFPRDM
660 670 680 690 700
KAMSPENQEY FEKHRWPPVW YLKEEDHYQR ARKEREKEDY LHLKRQPKRR
710 720
WLFWNSPSSP SSSAASSSSP SSSSAVV
Length:727
Mass (Da):82,626
Last modified:November 28, 2002 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i25C7493B2894A1B3
GO
Isoform 2 (identifier: Q9BYZ6-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MQAWRKGPDGPQKTSSDSMSRLM

Show »
Length:749
Mass (Da):85,072
Checksum:i59E1FB3AD5DF7D10
GO
Isoform 3 (identifier: Q9BYZ6-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MKARSRLM

Note: No experimental confirmation available. Gene prediction based on EST data.
Show »
Length:734
Mass (Da):83,469
Checksum:i8CD8EF21264ACAA3
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E5RI44E5RI44_HUMAN
Rho-related BTB domain-containing p...
RHOBTB2
182Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAH34917 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence BAA34437 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti255C → G in AAG61157 (Ref. 2) Curated1
Sequence conflicti269I → F in BAF85552 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_080812452A → G in EIEE64; reduced RHOBTB2 proteasomal degradation; does not affect interaction with CUL3. 1 PublicationCorresponds to variant dbSNP:rs1554504656Ensembl.1
Natural variantiVAR_080813461R → H in EIEE64; reduced RHOBTB2 proteasomal degradation; does not affect interaction with CUL3. 2 PublicationsCorresponds to variant dbSNP:rs1554504663Ensembl.1
Natural variantiVAR_080814485R → C in EIEE64; decreased proteasomal degradation; does not affect interaction with CUL3. 1 Publication1
Natural variantiVAR_079030488N → D in EIEE64; also found in a patient with Rett syndrome-like phenotype. 2 PublicationsCorresponds to variant dbSNP:rs1554504678Ensembl.1
Natural variantiVAR_080815489R → Q in EIEE64; reduced RHOBTB2 proteasomal degradation; does not affect interaction with CUL3. 2 PublicationsCorresponds to variant dbSNP:rs1554504684Ensembl.1
Natural variantiVAR_080816489R → W in EIEE64. 1 PublicationCorresponds to variant dbSNP:rs1554504681Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0540981M → MQAWRKGPDGPQKTSSDSMS RLM in isoform 2. 1 Publication1
Alternative sequenceiVSP_0540991M → MKARSRLM in isoform 3. Curated1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AY009093 mRNA Translation: AAG61157.1
AF315385 Genomic DNA Translation: AAK07562.1
AB018260 mRNA Translation: BAA34437.2 Different initiation.
AK292863 mRNA Translation: BAF85552.1
AC107959 Genomic DNA No translation available.
CH471080 Genomic DNA Translation: EAW63644.1
CH471080 Genomic DNA Translation: EAW63646.1
BC034917 mRNA Translation: AAH34917.1 Different initiation.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS55210.1 [Q9BYZ6-2]
CCDS55211.1 [Q9BYZ6-3]
CCDS6034.1 [Q9BYZ6-1]

NCBI Reference Sequences

More...
RefSeqi
NP_001153508.1, NM_001160036.1 [Q9BYZ6-2]
NP_001153509.1, NM_001160037.1 [Q9BYZ6-3]
NP_055993.2, NM_015178.2 [Q9BYZ6-1]
XP_016868740.1, XM_017013251.1 [Q9BYZ6-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000251822; ENSP00000251822; ENSG00000008853 [Q9BYZ6-1]
ENST00000519685; ENSP00000427926; ENSG00000008853 [Q9BYZ6-2]
ENST00000522948; ENSP00000429141; ENSG00000008853 [Q9BYZ6-3]

Database of genes from NCBI RefSeq genomes

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GeneIDi
23221

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:23221

UCSC genome browser

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UCSCi
uc003xcp.3 human [Q9BYZ6-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY009093 mRNA Translation: AAG61157.1
AF315385 Genomic DNA Translation: AAK07562.1
AB018260 mRNA Translation: BAA34437.2 Different initiation.
AK292863 mRNA Translation: BAF85552.1
AC107959 Genomic DNA No translation available.
CH471080 Genomic DNA Translation: EAW63644.1
CH471080 Genomic DNA Translation: EAW63646.1
BC034917 mRNA Translation: AAH34917.1 Different initiation.
CCDSiCCDS55210.1 [Q9BYZ6-2]
CCDS55211.1 [Q9BYZ6-3]
CCDS6034.1 [Q9BYZ6-1]
RefSeqiNP_001153508.1, NM_001160036.1 [Q9BYZ6-2]
NP_001153509.1, NM_001160037.1 [Q9BYZ6-3]
NP_055993.2, NM_015178.2 [Q9BYZ6-1]
XP_016868740.1, XM_017013251.1 [Q9BYZ6-2]

3D structure databases

SMRiQ9BYZ6
ModBaseiSearch...

Protein-protein interaction databases

BioGridi116828, 29 interactors
IntActiQ9BYZ6, 13 interactors
MINTiQ9BYZ6
STRINGi9606.ENSP00000427926

PTM databases

iPTMnetiQ9BYZ6
PhosphoSitePlusiQ9BYZ6

Polymorphism and mutation databases

BioMutaiRHOBTB2
DMDMi26006845

Proteomic databases

MassIVEiQ9BYZ6
PaxDbiQ9BYZ6
PeptideAtlasiQ9BYZ6
PRIDEiQ9BYZ6
ProteomicsDBi19297
19901
79744 [Q9BYZ6-1]

Genome annotation databases

EnsembliENST00000251822; ENSP00000251822; ENSG00000008853 [Q9BYZ6-1]
ENST00000519685; ENSP00000427926; ENSG00000008853 [Q9BYZ6-2]
ENST00000522948; ENSP00000429141; ENSG00000008853 [Q9BYZ6-3]
GeneIDi23221
KEGGihsa:23221
UCSCiuc003xcp.3 human [Q9BYZ6-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
23221
DisGeNETi23221

GeneCards: human genes, protein and diseases

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GeneCardsi
RHOBTB2
HGNCiHGNC:18756 RHOBTB2
HPAiHPA060938
MalaCardsiRHOBTB2
MIMi607352 gene
618004 phenotype
neXtProtiNX_Q9BYZ6
OpenTargetsiENSG00000008853
PharmGKBiPA38678

Human Unidentified Gene-Encoded large proteins database

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HUGEi
Search...

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG0393 Eukaryota
COG1100 LUCA
GeneTreeiENSGT00940000158918
HOGENOMiHOG000007723
InParanoidiQ9BYZ6
KOiK07868
OMAiHYRQDIY
OrthoDBi533443at2759
PhylomeDBiQ9BYZ6
TreeFamiTF323347

Enzyme and pathway databases

ReactomeiR-HSA-194840 Rho GTPase cycle

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
RHOBTB2 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
RHOBTB2

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
23221
PharosiQ9BYZ6

Protein Ontology

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PROi
PR:Q9BYZ6

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000008853 Expressed in 157 organ(s), highest expression level in upper lobe of left lung
ExpressionAtlasiQ9BYZ6 baseline and differential
GenevisibleiQ9BYZ6 HS

Family and domain databases

InterProiView protein in InterPro
IPR000210 BTB/POZ_dom
IPR027417 P-loop_NTPase
IPR011333 SKP1/BTB/POZ_sf
IPR001806 Small_GTPase
IPR003578 Small_GTPase_Rho
PfamiView protein in Pfam
PF00651 BTB, 2 hits
PF00071 Ras, 1 hit
SMARTiView protein in SMART
SM00225 BTB, 2 hits
SUPFAMiSSF52540 SSF52540, 1 hit
SSF54695 SSF54695, 2 hits
PROSITEiView protein in PROSITE
PS50097 BTB, 2 hits
PS51420 RHO, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiRHBT2_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9BYZ6
Secondary accession number(s): A8K9Z8
, D3DSR8, E9PBU2, E9PEI7, O94825, Q8N4A8, Q9BZK6
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 28, 2002
Last sequence update: November 28, 2002
Last modified: October 16, 2019
This is version 165 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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