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Protein

Rho-related BTB domain-containing protein 2

Gene

RHOBTB2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi21 – 28GTPSequence analysis8
Nucleotide bindingi84 – 88GTPSequence analysis5
Nucleotide bindingi140 – 143GTPSequence analysis4

GO - Molecular functioni

  • GTPase activity Source: GO_Central
  • GTP binding Source: GO_Central
  • protein kinase binding Source: GO_Central

GO - Biological processi

Keywordsi

LigandGTP-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiR-HSA-194840 Rho GTPase cycle

Names & Taxonomyi

Protein namesi
Recommended name:
Rho-related BTB domain-containing protein 2
Alternative name(s):
Deleted in breast cancer 2 gene protein
p83
Gene namesi
Name:RHOBTB2
Synonyms:DBC2, KIAA0717
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

EuPathDBiHostDB:ENSG00000008853.16
HGNCiHGNC:18756 RHOBTB2
MIMi607352 gene
neXtProtiNX_Q9BYZ6

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; Source: COMPARTMENTS

Pathology & Biotechi

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.
See also OMIM:618004
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_080812452A → G in EIEE64; reduced RHOBTB2 proteasomal degradation; does not affect interaction with CUL3. 1 Publication1
Natural variantiVAR_080813461R → H in EIEE64; reduced RHOBTB2 proteasomal degradation; does not affect interaction with CUL3. 2 Publications1
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 Publications1
Natural variantiVAR_080815489R → Q in EIEE64; reduced RHOBTB2 proteasomal degradation; does not affect interaction with CUL3. 2 Publications1
Natural variantiVAR_080816489R → W in EIEE64. 1 Publication1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi284Y → D: Results in decreased interaction with CUL3. 1 Publication1

Keywords - Diseasei

Disease mutation, Epilepsy

Organism-specific databases

DisGeNETi23221
MalaCardsiRHOBTB2
MIMi618004 phenotype
OpenTargetsiENSG00000008853
PharmGKBiPA38678

Polymorphism and mutation databases

BioMutaiRHOBTB2
DMDMi26006845

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001989621 – 727Rho-related BTB domain-containing protein 2Add BLAST727

Proteomic databases

PaxDbiQ9BYZ6
PeptideAtlasiQ9BYZ6
PRIDEiQ9BYZ6
ProteomicsDBi79744

PTM databases

iPTMnetiQ9BYZ6
PhosphoSitePlusiQ9BYZ6

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000008853 Expressed in 157 organ(s), highest expression level in upper lobe of left lung
CleanExiHS_RHOBTB2
ExpressionAtlasiQ9BYZ6 baseline and differential
GenevisibleiQ9BYZ6 HS

Organism-specific databases

HPAiHPA060938

Interactioni

Subunit structurei

Interacts with HSP90AA1 and HSP90AB1 (PubMed:26517842). Interacts with CUL3 (PubMed:29276004).2 Publications

GO - Molecular functioni

Protein-protein interaction databases

BioGridi116828, 28 interactors
IntActiQ9BYZ6, 8 interactors
MINTiQ9BYZ6
STRINGi9606.ENSP00000427926

Structurei

3D structure databases

ProteinModelPortaliQ9BYZ6
SMRiQ9BYZ6
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini266 – 442BTB 1PROSITE-ProRule annotationAdd BLAST177
Domaini500 – 567BTB 2PROSITE-ProRule annotationAdd BLAST68

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 210Rho-likeAdd BLAST210

Sequence similaritiesi

Belongs to the small GTPase superfamily. Rho family.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG0393 Eukaryota
COG1100 LUCA
GeneTreeiENSGT00760000119020
HOGENOMiHOG000007723
HOVERGENiHBG054987
InParanoidiQ9BYZ6
KOiK07868
OMAiHYRQDIY
OrthoDBiEOG091G03I3
PhylomeDBiQ9BYZ6
TreeFamiTF323347

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

Sequences (3+)i

Sequence statusi: Complete.

This entry describes 3 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 'canonical' 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
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

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:

Sequence cautioni

The sequence AAH34917 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAA34437 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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 Publication1
Natural variantiVAR_080813461R → H in EIEE64; reduced RHOBTB2 proteasomal degradation; does not affect interaction with CUL3. 2 Publications1
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 Publications1
Natural variantiVAR_080815489R → Q in EIEE64; reduced RHOBTB2 proteasomal degradation; does not affect interaction with CUL3. 2 Publications1
Natural variantiVAR_080816489R → W in EIEE64. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0540981M → MQAWRKGPDGPQKTSSDSMS RLM in isoform 2. 1 Publication1
Alternative sequenceiVSP_0540991M → MKARSRLM in isoform 3. Curated1

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]
UniGeneiHs.372688

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]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

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]
UniGeneiHs.372688

3D structure databases

ProteinModelPortaliQ9BYZ6
SMRiQ9BYZ6
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116828, 28 interactors
IntActiQ9BYZ6, 8 interactors
MINTiQ9BYZ6
STRINGi9606.ENSP00000427926

PTM databases

iPTMnetiQ9BYZ6
PhosphoSitePlusiQ9BYZ6

Polymorphism and mutation databases

BioMutaiRHOBTB2
DMDMi26006845

Proteomic databases

PaxDbiQ9BYZ6
PeptideAtlasiQ9BYZ6
PRIDEiQ9BYZ6
ProteomicsDBi79744

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

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

CTDi23221
DisGeNETi23221
EuPathDBiHostDB:ENSG00000008853.16
GeneCardsiRHOBTB2
H-InvDBiHIX0034584
HGNCiHGNC:18756 RHOBTB2
HPAiHPA060938
MalaCardsiRHOBTB2
MIMi607352 gene
618004 phenotype
neXtProtiNX_Q9BYZ6
OpenTargetsiENSG00000008853
PharmGKBiPA38678
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0393 Eukaryota
COG1100 LUCA
GeneTreeiENSGT00760000119020
HOGENOMiHOG000007723
HOVERGENiHBG054987
InParanoidiQ9BYZ6
KOiK07868
OMAiHYRQDIY
OrthoDBiEOG091G03I3
PhylomeDBiQ9BYZ6
TreeFamiTF323347

Enzyme and pathway databases

ReactomeiR-HSA-194840 Rho GTPase cycle

Miscellaneous databases

ChiTaRSiRHOBTB2 human
GeneWikiiRHOBTB2
GenomeRNAii23221
PROiPR:Q9BYZ6
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000008853 Expressed in 157 organ(s), highest expression level in upper lobe of left lung
CleanExiHS_RHOBTB2
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
ProtoNetiSearch...

Entry informationi

Entry nameiRHBT2_HUMAN
AccessioniPrimary (citable) accession number: Q9BYZ6
Secondary accession number(s): A8K9Z8
, D3DSR8, E9PBU2, E9PEI7, O94825, Q8N4A8, Q9BZK6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 28, 2002
Last sequence update: November 28, 2002
Last modified: November 7, 2018
This is version 158 of the entry and version 2 of the sequence. See complete history.
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

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

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