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    RHOBTB2 Rho related BTB domain containing 2 [ Homo sapiens (human) ]

    Gene ID: 23221, updated on 27-Nov-2024

    Summary

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    Official Symbol
    RHOBTB2provided by HGNC
    Official Full Name
    Rho related BTB domain containing 2provided by HGNC
    Primary source
    HGNC:HGNC:18756
    See related
    Ensembl:ENSG00000008853 MIM:607352; AllianceGenome:HGNC:18756
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    p83; DBC2; DEE64; EIEE64
    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]
    Expression
    Broad expression in lung (RPKM 11.1), brain (RPKM 8.7) and 22 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RHOBTB2 in Genome Data Viewer
    Location:
    8p21.3
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (22950813..23020199)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (23225786..23295160)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (22844764..22877712)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene phosphatidylethanolamine binding protein 4 Neighboring gene uncharacterized LOC101929237 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27097 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:22744265-22744765 Neighboring gene uncharacterized LOC124901907 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:22760306-22760493 Neighboring gene Sharpr-MPRA regulatory region 3596 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:22769137-22769908 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:22769909-22770680 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:22777059-22777987 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:22809645-22810276 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:22810277-22810907 Neighboring gene uncharacterized LOC107984124 Neighboring gene NANOG hESC enhancer GRCh37_chr8:22814761-22815262 Neighboring gene VISTA enhancer hs1927 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27100 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:22845205-22845961 Neighboring gene RNA, 7SL, cytoplasmic 303, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19017 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19018 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19019 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:22861268-22861793 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:22861794-22862318 Neighboring gene OCT4-H3K4me1 hESC enhancer GRCh37_chr8:22866186-22866771 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:22871840-22872604 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27102 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:22876025-22876192 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:22876488-22877052 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:22877053-22877615 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:22885758-22886258 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:22886259-22886759 Neighboring gene TNF receptor superfamily member 10b Neighboring gene Sharpr-MPRA regulatory region 6582 Neighboring gene TNFRSF10B antisense RNA 1 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:22921484-22922683 Neighboring gene TNFRSF10B 5' regulatory region Neighboring gene Sharpr-MPRA regulatory region 12406 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:22928365-22928864 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27107 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:22941919-22942800 Neighboring gene uncharacterized LOC254896 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:22960499-22961308 Neighboring gene TNF receptor superfamily member 10c

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Mild head trauma: Acute encephalopathy trigger in children with RHOBTB2 de novo mutation. Jové Blanco A, et al. Neurologia (Engl Ed), 2022 Oct. PMID 36195378
    2. DBC2 gene is silenced by promoter methylation in bladder cancer. Shi Y, et al. Urol Oncol, 2008 Sep-Oct. PMID 18640857
    3. Genetic analysis of the DBC2 gene in gastric cancer. Cho YG, et al. Acta Oncol, 2008. PMID 17906984
    4. A novel tumor suppressor gene RhoBTB2 (DBC2): frequent loss of expression in sporadic breast cancer. Mao H, et al. Mol Carcinog, 2010 Mar. PMID 19937980
    5. Mutation analysis of the DBC2 gene in sporadic and familial breast cancer. Ohadi M, et al. Acta Oncol, 2007. PMID 17653899

    See all (53) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders.
      Title: Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders.
    2. Mild head trauma: Acute encephalopathy trigger in children with RHOBTB2 de novo mutation.
      Title: Mild head trauma: Acute encephalopathy trigger in children with RHOBTB2 de novo mutation.
    3. Identification of RHOBTB2 aberration as an independent prognostic indicator in acute myeloid leukemia.
      Title: Identification of RHOBTB2 aberration as an independent prognostic indicator in acute myeloid leukemia.
    4. RHOBTB2 Mutations Expand the Phenotypic Spectrum of Alternating Hemiplegia of Childhood.
      Title: RHOBTB2 Mutations Expand the Phenotypic Spectrum of Alternating Hemiplegia of Childhood.
    5. missense variants in the BTB-domain-encoding region of RHOBTB2 as causative for a developmental and epileptic encephalopathy.
      Title: Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila.
    6. these findings provide evidence that DBC2 suppresses tumorigenesis in breast cancer by ubiquitinating MSI2.
      Title: DBC2/RhoBTB2 functions as a tumor suppressor protein via Musashi-2 ubiquitination in breast cancer.
    7. Mutation in the promoter and exon 7 of DBC2 gene is not common in the Chinese population and may not contribute to the susceptibility for breast cancer in China
      Title: The mutation of DBC2 in breast cancer patients from the Han ethnic group in Eastern China.
    8. data suggest a new paradigm for Hsp90-modulated assembly of a Cul3/DBC2 E3 ubiquitin ligase complex that may extend to other E3 ligase complexes.
      Title: Hsp90-dependent assembly of the DBC2/RhoBTB2-Cullin3 E3-ligase complex.
    9. ). The results demonstrated that aberrant methylation of RhoBTB2 may be responsible for the suppression of RhoBTB2 mRNA expression in breast cancer, a significant event during the genesis of breast cancer that correlated with progesterone receptor status
      Title: RhoBTB2 gene in breast cancer is silenced by promoter methylation.
    10. Thus loss of DBC2 expression is caused by abnormal methylation of DBC2 and might have a role in breast cancer development.
      Title: Decreased expression of the DBC2 gene and its clinicopathological significance in breast cancer: correlation with aberrant DNA methylation.
    Submit: New GeneRIF Correction See all GeneRIFs (28)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Developmental and epileptic encephalopathy, 64
    MedGen: C4693899 OMIM: 618004 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA0717

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTP binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables GTPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein kinase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in actin filament organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cortical cytoskeleton organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in establishment or maintenance of cell polarity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of actin cytoskeleton organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of cell shape IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cell projection IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in cytoplasmic vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endosome membrane TAS
    Traceable Author Statement
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    rho-related BTB domain-containing protein 2
    Names
    deleted in breast cancer 2 gene protein

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_047133.2 RefSeqGene

      Range
      53737..74388
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001160036.2 → NP_001153508.1  rho-related BTB domain-containing protein 2 isoform 1

      See identical proteins and their annotated locations for NP_001153508.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AA641575, AB018260, AC107959, AK292863, AY009093, BC034917, BG255120
      Consensus CDS
      CCDS55210.1
      UniProtKB/TrEMBL
      A0A8I5KV41
      Related
      ENSP00000427926.1, ENST00000519685.5
      Conserved Domains (5) summary
      cd01873
      Location:35 → 229
      RhoBTB; RhoBTB protein is an atypical member of the Rho family of small GTPases
      smart00174
      Location:39 → 230
      RHO; Rho (Ras homology) subfamily of Ras-like small GTPases
      smart00225
      Location:523 → 615
      BTB; Broad-Complex, Tramtrack and Bric a brac
      pfam00651
      Location:513 → 615
      BTB; BTB/POZ domain
      cl02518
      Location:443 → 490
      BTB; BTB/POZ domain

    2. NM_001160037.2 → NP_001153509.1  rho-related BTB domain-containing protein 2 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC107959
      Consensus CDS
      CCDS55211.1
      UniProtKB/TrEMBL
      A0A8I5KV41
      Related
      ENSP00000429141.1, ENST00000522948.5
      Conserved Domains (5) summary
      cd01873
      Location:20 → 214
      RhoBTB; RhoBTB protein is an atypical member of the Rho family of small GTPases
      smart00174
      Location:24 → 215
      RHO; Rho (Ras homology) subfamily of Ras-like small GTPases
      smart00225
      Location:508 → 600
      BTB; Broad-Complex, Tramtrack and Bric a brac
      pfam00651
      Location:498 → 600
      BTB; BTB/POZ domain
      cl02518
      Location:428 → 475
      BTB; BTB/POZ domain

    3. NM_001374791.1 → NP_001361720.1  rho-related BTB domain-containing protein 2 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC107959
      Consensus CDS
      CCDS6034.1
      UniProtKB/Swiss-Prot
      A8K9Z8, D3DSR8, E9PBU2, E9PEI7, O94825, Q8N4A8, Q9BYZ6, Q9BZK6
      UniProtKB/TrEMBL
      A0A8I5KV41
      Related
      ENSP00000509630.1, ENST00000692529.1
      Conserved Domains (4) summary
      cd01873
      Location:13 → 207
      RhoBTB; RhoBTB protein is an atypical member of the Rho family of small GTPases
      cd18356
      Location:250 → 475
      BTB1_POZ_RHOBTB2; first BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in Rho-related BTB domain-containing protein 2 (RhoBTB2)
      cd18359
      Location:480 → 603
      BTB2_POZ_RHOBTB2; second BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in Rho-related BTB domain-containing protein 2 (RhoBTB2)
      cd18531
      Location:608 → 704
      BACK_RHOBTB2; BACK (BTB and C-terminal Kelch) domain found in Rho-related BTB domain-containing protein 2 (RhoBTB2)

    4. NM_015178.3 → NP_055993.2  rho-related BTB domain-containing protein 2 isoform 3

      See identical proteins and their annotated locations for NP_055993.2

      Status: REVIEWED

      Source sequence(s)
      AC107959
      Consensus CDS
      CCDS6034.1
      UniProtKB/Swiss-Prot
      A8K9Z8, D3DSR8, E9PBU2, E9PEI7, O94825, Q8N4A8, Q9BYZ6, Q9BZK6
      UniProtKB/TrEMBL
      A0A8I5KV41
      Related
      ENSP00000251822.7, ENST00000251822.7
      Conserved Domains (4) summary
      cd01873
      Location:13 → 207
      RhoBTB; RhoBTB protein is an atypical member of the Rho family of small GTPases
      cd18356
      Location:250 → 475
      BTB1_POZ_RHOBTB2; first BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in Rho-related BTB domain-containing protein 2 (RhoBTB2)
      cd18359
      Location:480 → 603
      BTB2_POZ_RHOBTB2; second BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in Rho-related BTB domain-containing protein 2 (RhoBTB2)
      cd18531
      Location:608 → 704
      BACK_RHOBTB2; BACK (BTB and C-terminal Kelch) domain found in Rho-related BTB domain-containing protein 2 (RhoBTB2)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      22950813..23020199
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047421609.1 → XP_047277565.1  rho-related BTB domain-containing protein 2 isoform X1

    2. XM_047421611.1 → XP_047277567.1  rho-related BTB domain-containing protein 2 isoform X1

    3. XM_047421610.1 → XP_047277566.1  rho-related BTB domain-containing protein 2 isoform X1

    4. XM_047421607.1 → XP_047277563.1  rho-related BTB domain-containing protein 2 isoform X1

    5. XM_047421608.1 → XP_047277564.1  rho-related BTB domain-containing protein 2 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      23225786..23295160
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054360181.1 → XP_054216156.1  rho-related BTB domain-containing protein 2 isoform X1

    2. XM_054360183.1 → XP_054216158.1  rho-related BTB domain-containing protein 2 isoform X1

    3. XM_054360182.1 → XP_054216157.1  rho-related BTB domain-containing protein 2 isoform X1

    4. XM_054360179.1 → XP_054216154.1  rho-related BTB domain-containing protein 2 isoform X1

    5. XM_054360180.1 → XP_054216155.1  rho-related BTB domain-containing protein 2 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BYZ6.2 GenPept UniProtKB/Swiss-Prot:Q9BYZ6

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