Q9BYZ6 · RHBT2_HUMAN
- ProteinRho-related BTB domain-containing protein 2
- GeneRHOBTB2
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids727 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
Features
Showing features for binding site.
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
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Aspect | Term | |
---|---|---|
Cellular Component | endosome membrane | |
Cellular Component | plasma membrane | |
Molecular Function | GTP binding | |
Molecular Function | GTPase activity | |
Molecular Function | protein kinase binding | |
Biological Process | actin filament organization | |
Biological Process | Cdc42 protein signal transduction | |
Biological Process | endocytosis | |
Biological Process | establishment or maintenance of cell polarity |
Keywords
- Ligand
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameRho-related BTB domain-containing protein 2
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionQ9BYZ6
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
UniProt Annotation
GO Annotation
Disease & Variants
Involvement in disease
Developmental and epileptic encephalopathy 64 (DEE64)
- Note
- DescriptionA form of epileptic encephalopathy, a heterogeneous group of severe early-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. DEE64 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 alsoMIM:618004
Natural variants in DEE64
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_080812 | 452 | A>G | in DEE64; reduced RHOBTB2 proteasomal degradation; does not affect interaction with CUL3; dbSNP:rs1554504656 | |
VAR_080813 | 461 | R>H | in DEE64; reduced RHOBTB2 proteasomal degradation; does not affect interaction with CUL3; dbSNP:rs1554504663 | |
VAR_080814 | 485 | R>C | in DEE64; decreased proteasomal degradation; does not affect interaction with CUL3; dbSNP:rs1563292586 | |
VAR_079030 | 488 | N>D | in DEE64; also found in a patient with Rett syndrome-like phenotype; dbSNP:rs1554504678 | |
VAR_080815 | 489 | R>Q | in DEE64; reduced RHOBTB2 proteasomal degradation; does not affect interaction with CUL3; dbSNP:rs1554504684 | |
VAR_080816 | 489 | R>W | in DEE64; dbSNP:rs1554504681 |
Features
Showing features for mutagenesis, natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Mutagenesis | 284 | Results in decreased interaction with CUL3. | ||||
Sequence: Y → D | ||||||
Natural variant | VAR_080812 | 452 | in DEE64; reduced RHOBTB2 proteasomal degradation; does not affect interaction with CUL3; dbSNP:rs1554504656 | |||
Sequence: A → G | ||||||
Natural variant | VAR_080813 | 461 | in DEE64; reduced RHOBTB2 proteasomal degradation; does not affect interaction with CUL3; dbSNP:rs1554504663 | |||
Sequence: R → H | ||||||
Natural variant | VAR_080814 | 485 | in DEE64; decreased proteasomal degradation; does not affect interaction with CUL3; dbSNP:rs1563292586 | |||
Sequence: R → C | ||||||
Natural variant | VAR_079030 | 488 | in DEE64; also found in a patient with Rett syndrome-like phenotype; dbSNP:rs1554504678 | |||
Sequence: N → D | ||||||
Natural variant | VAR_080815 | 489 | in DEE64; reduced RHOBTB2 proteasomal degradation; does not affect interaction with CUL3; dbSNP:rs1554504684 | |||
Sequence: R → Q | ||||||
Natural variant | VAR_080816 | 489 | in DEE64; dbSNP:rs1554504681 | |||
Sequence: R → W |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 835 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Genetic variation databases
PTM/Processing
Features
Showing features for chain.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Chain | PRO_0000198962 | 1-727 | Rho-related BTB domain-containing protein 2 | |||
Sequence: MDSDMDYERPNVETIKCVVVGDNAVGKTRLICARACNATLTQYQLLATHVPTVWAIDQYRVCQEVLERSRDVVDDVSVSLRLWDTFGDHHKDRRFAYGRSDVVVLCFSIANPNSLHHVKTMWYPEIKHFCPRAPVILVGCQLDLRYADLEAVNRARRPLARPIKPNEILPPEKGREVAKELGIPYYETSVVAQFGIKDVFDNAIRAALISRRHLQFWKSHLRNVQRPLLQAPFLPPKPPPPIIVVPDPPSSSEECPAHLLEDPLCADVILVLQERVRIFAHKIYLSTSSSKFYDLFLMDLSEGELGGPSEPGGTHPEDHQGHSDQHHHHHHHHHGRDFLLRAASFDVCESVDEAGGSGPAGLRASTSDGILRGNGTGYLPGRGRVLSSWSRAFVSIQEEMAEDPLTYKSRLMVVVKMDSSIQPGPFRAVLKYLYTGELDENERDLMHIAHIAELLEVFDLRMMVANILNNEAFMNQEITKAFHVRRTNRVKECLAKGTFSDVTFILDDGTISAHKPLLISSCDWMAAMFGGPFVESSTREVVFPYTSKSCMRAVLEYLYTGMFTSSPDLDDMKLIILANRLCLPHLVALTEQYTVTGLMEATQMMVDIDGDVLVFLELAQFHCAYQLADWCLHHICTNYNNVCRKFPRDMKAMSPENQEYFEKHRWPPVWYLKEEDHYQRARKEREKEDYLHLKRQPKRRWLFWNSPSSPSSSAASSSSPSSSSAVV |
Proteomic databases
PTM databases
Expression
Tissue specificity
Ubiquitous, with highest levels in neural tissues. Expression is also detected in fetal lung, heart, and brain.
Gene expression databases
Organism-specific databases
Structure
Family & Domains
Features
Showing features for region, domain.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Region | 1-210 | Rho-like | ||||
Sequence: MDSDMDYERPNVETIKCVVVGDNAVGKTRLICARACNATLTQYQLLATHVPTVWAIDQYRVCQEVLERSRDVVDDVSVSLRLWDTFGDHHKDRRFAYGRSDVVVLCFSIANPNSLHHVKTMWYPEIKHFCPRAPVILVGCQLDLRYADLEAVNRARRPLARPIKPNEILPPEKGREVAKELGIPYYETSVVAQFGIKDVFDNAIRAALIS | ||||||
Domain | 266-442 | BTB 1 | ||||
Sequence: ADVILVLQERVRIFAHKIYLSTSSSKFYDLFLMDLSEGELGGPSEPGGTHPEDHQGHSDQHHHHHHHHHGRDFLLRAASFDVCESVDEAGGSGPAGLRASTSDGILRGNGTGYLPGRGRVLSSWSRAFVSIQEEMAEDPLTYKSRLMVVVKMDSSIQPGPFRAVLKYLYTGELDENE | ||||||
Region | 304-333 | Disordered | ||||
Sequence: ELGGPSEPGGTHPEDHQGHSDQHHHHHHHH | ||||||
Domain | 500-567 | BTB 2 | ||||
Sequence: SDVTFILDDGTISAHKPLLISSCDWMAAMFGGPFVESSTREVVFPYTSKSCMRAVLEYLYTGMFTSSP | ||||||
Region | 703-727 | Disordered | ||||
Sequence: FWNSPSSPSSSAASSSSPSSSSAVV |
Sequence similarities
Belongs to the small GTPase superfamily. Rho family.
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence & Isoforms
- Sequence statusComplete
This entry describes 3 isoforms produced by Alternative splicing.
Q9BYZ6-1
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.
- Name1
- Length727
- Mass (Da)82,626
- Last updated2002-11-28 v2
- Checksum25C7493B2894A1B3
Q9BYZ6-2
- Name2
- Differences from canonical
- 1-1: M → MQAWRKGPDGPQKTSSDSMSRLM
Q9BYZ6-3
- Name3
- Differences from canonical
- 1-1: M → MKARSRLM
Computationally mapped potential isoform sequences
There are 2 potential isoforms mapped to this entry
Entry | Entry name | Gene name | Length | ||
---|---|---|---|---|---|
A0A8I5KV41 | A0A8I5KV41_HUMAN | RHOBTB2 | 736 | ||
E5RI44 | E5RI44_HUMAN | RHOBTB2 | 182 |
Sequence caution
Features
Showing features for alternative sequence, sequence conflict.
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AY009093 EMBL· GenBank· DDBJ | AAG61157.1 EMBL· GenBank· DDBJ | mRNA | ||
AF315385 EMBL· GenBank· DDBJ | AAK07562.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AB018260 EMBL· GenBank· DDBJ | BAA34437.2 EMBL· GenBank· DDBJ | mRNA | Different initiation | |
AK292863 EMBL· GenBank· DDBJ | BAF85552.1 EMBL· GenBank· DDBJ | mRNA | ||
AC107959 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
CH471080 EMBL· GenBank· DDBJ | EAW63644.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
CH471080 EMBL· GenBank· DDBJ | EAW63646.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
BC034917 EMBL· GenBank· DDBJ | AAH34917.1 EMBL· GenBank· DDBJ | mRNA | Different initiation |