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Q9BYZ6

- RHBT2_HUMAN

UniProt

Q9BYZ6 - RHBT2_HUMAN

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Protein
Rho-related BTB domain-containing protein 2
Gene
RHOBTB2, DBC2, KIAA0717
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5 - Experimental evidence at transcript leveli

Functioni

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi21 – 288GTP Reviewed prediction
Nucleotide bindingi84 – 885GTP Reviewed prediction
Nucleotide bindingi140 – 1434GTP Reviewed prediction

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
Complete GO annotation...

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
Complete GO annotation...

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA38678.

PTM / Processingi

Molecule processing

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

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini266 – 442177BTB 1
Add
BLAST
Domaini500 – 56768BTB 2
Add
BLAST

Region

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

Sequence similaritiesi

Contains 2 BTB (POZ) domains.

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.

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 11M → MQAWRKGPDGPQKTSSDSMS RLM in isoform 2.
VSP_054098
Alternative sequencei1 – 11M → MKARSRLM in isoform 3.
VSP_054099

Sequence conflict

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

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.
ENST00000519685; ENSP00000427926; ENSG00000008853.
ENST00000522948; ENSP00000429141; ENSG00000008853.
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 .
ENST00000519685 ; ENSP00000427926 ; ENSG00000008853 .
ENST00000522948 ; ENSP00000429141 ; ENSG00000008853 .
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

« Hide 'large scale' publications
  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: September 3, 2014
This is version 120 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

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