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Q9BYZ6

- RHBT2_HUMAN

UniProt

Q9BYZ6 - RHBT2_HUMAN

Protein

Rho-related BTB domain-containing protein 2

Gene

RHOBTB2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 121 (01 Oct 2014)
      Sequence version 2 (28 Nov 2002)
      Previous versions | rss
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    Functioni

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi21 – 288GTPSequence Analysis
    Nucleotide bindingi84 – 885GTPSequence Analysis
    Nucleotide bindingi140 – 1434GTPSequence Analysis

    GO - Molecular functioni

    1. GTP binding Source: UniProtKB-KW

    GO - Biological processi

    1. regulation of small GTPase mediated signal transduction Source: Reactome
    2. small GTPase mediated signal transduction Source: Reactome

    Keywords - Ligandi

    GTP-binding, Nucleotide-binding

    Enzyme and pathway databases

    ReactomeiREACT_11051. 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
    ProteomesiUP000005640: Chromosome 8

    Organism-specific databases

    HGNCiHGNC:18756. RHOBTB2.

    Subcellular locationi

    GO - Cellular componenti

    1. cytosol Source: Reactome
    2. plasma membrane Source: Reactome

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA38678.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 727727Rho-related BTB domain-containing protein 2PRO_0000198962Add
    BLAST

    Proteomic databases

    PaxDbiQ9BYZ6.
    PRIDEiQ9BYZ6.

    PTM databases

    PhosphoSiteiQ9BYZ6.

    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

    ArrayExpressiQ9BYZ6.
    BgeeiQ9BYZ6.
    CleanExiHS_RHOBTB2.
    GenevestigatoriQ9BYZ6.

    Organism-specific databases

    HPAiHPA060938.

    Interactioni

    Protein-protein interaction databases

    BioGridi116828. 12 interactions.
    STRINGi9606.ENSP00000251822.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9BYZ6.
    SMRiQ9BYZ6. Positions 13-208.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini266 – 442177BTB 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini500 – 56768BTB 2PROSITE-ProRule annotationAdd
    BLAST

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni1 – 210210Rho-likeAdd
    BLAST

    Sequence similaritiesi

    Belongs to the small GTPase superfamily. Rho family.Curated
    Contains 2 BTB (POZ) domains.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat

    Phylogenomic databases

    eggNOGiCOG1100.
    HOGENOMiHOG000007723.
    HOVERGENiHBG054987.
    InParanoidiQ9BYZ6.
    KOiK07868.
    OMAiSFDICES.
    PhylomeDBiQ9BYZ6.

    Family and domain databases

    Gene3Di3.30.710.10. 3 hits.
    3.40.50.300. 1 hit.
    InterProiIPR000210. BTB/POZ-like.
    IPR011333. BTB/POZ_fold.
    IPR013069. BTB_POZ.
    IPR027417. P-loop_NTPase.
    IPR001806. Small_GTPase.
    IPR003578. Small_GTPase_Rho.
    [Graphical view]
    PfamiPF00651. BTB. 2 hits.
    PF00071. Ras. 1 hit.
    [Graphical view]
    PRINTSiPR00449. RASTRNSFRMNG.
    SMARTiSM00225. BTB. 2 hits.
    SM00174. RHO. 1 hit.
    [Graphical view]
    SUPFAMiSSF52540. SSF52540. 1 hit.
    SSF54695. SSF54695. 3 hits.
    PROSITEiPS50097. BTB. 2 hits.
    PS51420. RHO. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    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

    MDSDMDYERP NVETIKCVVV GDNAVGKTRL ICARACNATL TQYQLLATHV    50
    PTVWAIDQYR VCQEVLERSR DVVDDVSVSL RLWDTFGDHH KDRRFAYGRS 100
    DVVVLCFSIA NPNSLHHVKT MWYPEIKHFC PRAPVILVGC QLDLRYADLE 150
    AVNRARRPLA RPIKPNEILP PEKGREVAKE LGIPYYETSV VAQFGIKDVF 200
    DNAIRAALIS RRHLQFWKSH LRNVQRPLLQ APFLPPKPPP PIIVVPDPPS 250
    SSEECPAHLL EDPLCADVIL VLQERVRIFA HKIYLSTSSS KFYDLFLMDL 300
    SEGELGGPSE PGGTHPEDHQ GHSDQHHHHH HHHHGRDFLL RAASFDVCES 350
    VDEAGGSGPA GLRASTSDGI LRGNGTGYLP GRGRVLSSWS RAFVSIQEEM 400
    AEDPLTYKSR LMVVVKMDSS IQPGPFRAVL KYLYTGELDE NERDLMHIAH 450
    IAELLEVFDL RMMVANILNN EAFMNQEITK AFHVRRTNRV KECLAKGTFS 500
    DVTFILDDGT ISAHKPLLIS SCDWMAAMFG GPFVESSTRE VVFPYTSKSC 550
    MRAVLEYLYT GMFTSSPDLD DMKLIILANR LCLPHLVALT EQYTVTGLME 600
    ATQMMVDIDG DVLVFLELAQ FHCAYQLADW CLHHICTNYN NVCRKFPRDM 650
    KAMSPENQEY FEKHRWPPVW YLKEEDHYQR ARKEREKEDY LHLKRQPKRR 700
    WLFWNSPSSP SSSAASSSSP SSSSAVV 727
    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

    Sequence cautioni

    The sequence AAH34917.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
    The sequence BAA34437.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti255 – 2551C → G in AAG61157. 1 PublicationCurated
    Sequence conflicti269 – 2691I → F in BAF85552. (PubMed:14702039)Curated

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 11M → MQAWRKGPDGPQKTSSDSMS RLM in isoform 2. 1 PublicationVSP_054098
    Alternative sequencei1 – 11M → MKARSRLM in isoform 3. CuratedVSP_054099

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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_006716378.1. XM_006716315.1. [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.
    UCSCiuc003xcq.2. human. [Q9BYZ6-1]

    Polymorphism databases

    DMDMi26006845.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Web resourcesi

    Atlas of Genetics and Cytogenetics in Oncology and Haematology

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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.
    CCDSi CCDS55210.1. [Q9BYZ6-2 ]
    CCDS55211.1. [Q9BYZ6-3 ]
    CCDS6034.1. [Q9BYZ6-1 ]
    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_006716378.1. XM_006716315.1. [Q9BYZ6-2 ]
    UniGenei Hs.372688.

    3D structure databases

    ProteinModelPortali Q9BYZ6.
    SMRi Q9BYZ6. Positions 13-208.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 116828. 12 interactions.
    STRINGi 9606.ENSP00000251822.

    PTM databases

    PhosphoSitei Q9BYZ6.

    Polymorphism databases

    DMDMi 26006845.

    Proteomic databases

    PaxDbi Q9BYZ6.
    PRIDEi Q9BYZ6.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000251822 ; ENSP00000251822 ; ENSG00000008853 . [Q9BYZ6-1 ]
    ENST00000519685 ; ENSP00000427926 ; ENSG00000008853 . [Q9BYZ6-2 ]
    ENST00000522948 ; ENSP00000429141 ; ENSG00000008853 . [Q9BYZ6-3 ]
    GeneIDi 23221.
    KEGGi hsa:23221.
    UCSCi uc003xcq.2. human. [Q9BYZ6-1 ]

    Organism-specific databases

    CTDi 23221.
    GeneCardsi GC08P022844.
    H-InvDB HIX0034584.
    HGNCi HGNC:18756. RHOBTB2.
    HPAi HPA060938.
    MIMi 607352. gene.
    neXtProti NX_Q9BYZ6.
    PharmGKBi PA38678.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG1100.
    HOGENOMi HOG000007723.
    HOVERGENi HBG054987.
    InParanoidi Q9BYZ6.
    KOi K07868.
    OMAi SFDICES.
    PhylomeDBi Q9BYZ6.

    Enzyme and pathway databases

    Reactomei REACT_11051. Rho GTPase cycle.

    Miscellaneous databases

    ChiTaRSi RHOBTB2. human.
    GeneWikii RHOBTB2.
    GenomeRNAii 23221.
    NextBioi 44815.
    PROi Q9BYZ6.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9BYZ6.
    Bgeei Q9BYZ6.
    CleanExi HS_RHOBTB2.
    Genevestigatori Q9BYZ6.

    Family and domain databases

    Gene3Di 3.30.710.10. 3 hits.
    3.40.50.300. 1 hit.
    InterProi IPR000210. BTB/POZ-like.
    IPR011333. BTB/POZ_fold.
    IPR013069. BTB_POZ.
    IPR027417. P-loop_NTPase.
    IPR001806. Small_GTPase.
    IPR003578. Small_GTPase_Rho.
    [Graphical view ]
    Pfami PF00651. BTB. 2 hits.
    PF00071. Ras. 1 hit.
    [Graphical view ]
    PRINTSi PR00449. RASTRNSFRMNG.
    SMARTi SM00225. BTB. 2 hits.
    SM00174. RHO. 1 hit.
    [Graphical view ]
    SUPFAMi SSF52540. SSF52540. 1 hit.
    SSF54695. SSF54695. 3 hits.
    PROSITEi PS50097. BTB. 2 hits.
    PS51420. RHO. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Genomic organization and expression profile of the small GTPases of the RhoBTB family in human and mouse."
      Ramos S., Khademi F., Somesh B.P., Rivero F.
      Gene 298:147-157(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], TISSUE SPECIFICITY.
    2. "Homozygously deleted genes in breast cancer."
      Hamaguchi M., King D., Meth J., Odawara T., Wigler M.
      Submitted (OCT-2000) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    3. "Genomic sequence for DBC2."
      Hamaguchi M., Meth J., Odawara T.
      Submitted (OCT-2000) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    4. "Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
      Nagase T., Ishikawa K., Suyama M., Kikuno R., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
      DNA Res. 5:277-286(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Brain.
    5. "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones."
      Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T.
      DNA Res. 9:99-106(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: SEQUENCE REVISION.
    6. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Trachea.
    7. "DNA sequence and analysis of human chromosome 8."
      Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M., Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S., Asakawa T.
      , Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A., Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III, Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K., Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P., Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H., Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B., O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K., Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L., Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G., Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W., Platzer M., Shimizu N., Lander E.S.
      Nature 439:331-335(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    8. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    9. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Tissue: Eye.

    Entry informationi

    Entry nameiRHBT2_HUMAN
    AccessioniPrimary (citable) accession number: Q9BYZ6
    Secondary accession number(s): A8K9Z8
    , D3DSR8, E9PBU2, E9PEI7, O94825, Q8N4A8, Q9BZK6
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 28, 2002
    Last sequence update: November 28, 2002
    Last modified: October 1, 2014
    This is version 121 of the entry and version 2 of the sequence. [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. Human chromosome 8
      Human chromosome 8: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3