BTBD2_HUMAN
ID BTBD2_HUMAN Reviewed; 525 AA.
AC Q9BX70; O60418; O75248; Q4VBZ1; Q6IAC5; Q7Z5W0; Q96SX8; Q9NPS1; Q9NX81;
DT 23-JAN-2002, integrated into UniProtKB/Swiss-Prot.
DT 01-JUN-2001, sequence version 1.
DT 03-AUG-2022, entry version 168.
DE RecName: Full=BTB/POZ domain-containing protein 2;
GN Name=BTBD2;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), INTERACTION WITH TOP1, AND TISSUE
RP SPECIFICITY.
RX PubMed=11818025; DOI=10.1186/1471-2164-3-1;
RA Xu L., Yang L., Hashimoto K., Anderson M., Kohlhagen G., Pommier Y.,
RA D'Arpa P.;
RT "Characterization of BTBD1 and BTBD2, two similar BTB-domain-containing
RT Kelch-like proteins that interact with topoisomerase I.";
RL BMC Genomics 3:1-1(2002).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND NUCLEOTIDE SEQUENCE
RP [LARGE SCALE MRNA] OF 214-525 (ISOFORM 1).
RC TISSUE=Teratocarcinoma;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RA Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.;
RT "Cloning of human full open reading frames in Gateway(TM) system entry
RT vector (pDONR201).";
RL Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15057824; DOI=10.1038/nature02399;
RA Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E.,
RA Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A.,
RA Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S.,
RA Carrano A.V., Caoile C., Chan Y.M., Christensen M., Cleland C.A.,
RA Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J.,
RA Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M.,
RA Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W.,
RA Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V.,
RA Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D.,
RA McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I.,
RA Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L.,
RA Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A.,
RA She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M.,
RA Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J.,
RA Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E.,
RA Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M.,
RA Rubin E.M., Lucas S.M.;
RT "The DNA sequence and biology of human chromosome 19.";
RL Nature 428:529-535(2004).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 90-525 (ISOFORM 1).
RC TISSUE=Blood, Brain, Colon, and Ovary;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 258-525 (ISOFORM 1).
RG The European IMAGE consortium;
RL Submitted (JUL-2000) to the EMBL/GenBank/DDBJ databases.
RN [7]
RP SUBCELLULAR LOCATION, AND INTERACTION WITH TRIM5.
RX PubMed=12878161; DOI=10.1016/s0014-4827(03)00187-3;
RA Xu L., Yang L., Moitra P.K., Hashimoto K., Rallabhandi P., Kaul S.,
RA Meroni G., Jensen J.P., Weissman A.M., D'Arpa P.;
RT "BTBD1 and BTBD2 colocalize to cytoplasmic bodies with the RBCC/tripartite
RT motif protein, TRIM5delta.";
RL Exp. Cell Res. 288:84-93(2003).
RN [8]
RP X-RAY CRYSTALLOGRAPHY (2.2 ANGSTROMS) OF 361-525.
RG New York structural genomix research consortium (NYSGXRC);
RT "Crystal structure of the PHR domain from human BTBD2 protein.";
RL Submitted (AUG-2010) to the PDB data bank.
CC -!- SUBUNIT: Interacts with topoisomerase 1 and with TRIM5 isoform Delta.
CC {ECO:0000269|PubMed:11818025, ECO:0000269|PubMed:12878161}.
CC -!- INTERACTION:
CC Q9BX70; P24863: CCNC; NbExp=3; IntAct=EBI-710091, EBI-395261;
CC Q9BX70; Q9BW66: CINP; NbExp=3; IntAct=EBI-710091, EBI-739784;
CC Q9BX70; Q7L5N1: COPS6; NbExp=7; IntAct=EBI-710091, EBI-486838;
CC Q9BX70; Q13618: CUL3; NbExp=7; IntAct=EBI-710091, EBI-456129;
CC Q9BX70; P40692: MLH1; NbExp=3; IntAct=EBI-710091, EBI-744248;
CC Q9BX70; Q9NPG2: NGB; NbExp=3; IntAct=EBI-710091, EBI-10311409;
CC Q9BX70; Q96HA8: NTAQ1; NbExp=3; IntAct=EBI-710091, EBI-741158;
CC Q9BX70; Q9UJX0: OSGIN1; NbExp=3; IntAct=EBI-710091, EBI-9057006;
CC Q9BX70; Q16401: PSMD5; NbExp=3; IntAct=EBI-710091, EBI-752143;
CC Q9BX70; P04637: TP53; NbExp=2; IntAct=EBI-710091, EBI-366083;
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:12878161}.
CC Note=Localizes to punctate or elongated cytoplasmic bodies.
CC {ECO:0000269|PubMed:12878161}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9BX70-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9BX70-2; Sequence=VSP_010562;
CC -!- SEQUENCE CAUTION:
CC Sequence=AAC16070.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
CC Sequence=BAB55143.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AF355797; AAK25826.1; -; mRNA.
DR EMBL; AK000393; BAA91136.1; -; mRNA.
DR EMBL; AK027481; BAB55143.1; ALT_INIT; mRNA.
DR EMBL; CR457230; CAG33511.1; -; mRNA.
DR EMBL; AC004678; AAC16070.1; ALT_SEQ; Genomic_DNA.
DR EMBL; AC005306; AAC26984.1; -; Genomic_DNA.
DR EMBL; AC005306; AAG45443.1; -; Genomic_DNA.
DR EMBL; BC000564; AAH00564.2; -; mRNA.
DR EMBL; BC008035; AAH08035.2; -; mRNA.
DR EMBL; BC053986; AAH53986.1; -; mRNA.
DR EMBL; BC094820; AAH94820.1; -; mRNA.
DR EMBL; AL360275; CAB96527.1; -; mRNA.
DR CCDS; CCDS12078.1; -. [Q9BX70-1]
DR RefSeq; NP_060267.2; NM_017797.3. [Q9BX70-1]
DR RefSeq; XP_011526429.1; XM_011528127.1. [Q9BX70-2]
DR PDB; 3NO8; X-ray; 2.20 A; A/B=361-525.
DR PDBsum; 3NO8; -.
DR AlphaFoldDB; Q9BX70; -.
DR SMR; Q9BX70; -.
DR BioGRID; 120778; 91.
DR IntAct; Q9BX70; 46.
DR MINT; Q9BX70; -.
DR STRING; 9606.ENSP00000255608; -.
DR iPTMnet; Q9BX70; -.
DR PhosphoSitePlus; Q9BX70; -.
DR BioMuta; BTBD2; -.
DR DMDM; 20137455; -.
DR EPD; Q9BX70; -.
DR jPOST; Q9BX70; -.
DR MassIVE; Q9BX70; -.
DR MaxQB; Q9BX70; -.
DR PaxDb; Q9BX70; -.
DR PeptideAtlas; Q9BX70; -.
DR PRIDE; Q9BX70; -.
DR ProteomicsDB; 79370; -. [Q9BX70-1]
DR ProteomicsDB; 79371; -. [Q9BX70-2]
DR Antibodypedia; 22876; 66 antibodies from 13 providers.
DR DNASU; 55643; -.
DR Ensembl; ENST00000255608.9; ENSP00000255608.3; ENSG00000133243.10. [Q9BX70-1]
DR GeneID; 55643; -.
DR KEGG; hsa:55643; -.
DR MANE-Select; ENST00000255608.9; ENSP00000255608.3; NM_017797.4; NP_060267.2.
DR UCSC; uc002lup.2; human. [Q9BX70-1]
DR CTD; 55643; -.
DR DisGeNET; 55643; -.
DR GeneCards; BTBD2; -.
DR HGNC; HGNC:15504; BTBD2.
DR HPA; ENSG00000133243; Low tissue specificity.
DR MIM; 608531; gene.
DR neXtProt; NX_Q9BX70; -.
DR OpenTargets; ENSG00000133243; -.
DR PharmGKB; PA25439; -.
DR VEuPathDB; HostDB:ENSG00000133243; -.
DR eggNOG; KOG2075; Eukaryota.
DR GeneTree; ENSGT00940000159179; -.
DR HOGENOM; CLU_015899_2_1_1; -.
DR InParanoid; Q9BX70; -.
DR OMA; GKEQTVC; -.
DR OrthoDB; 590115at2759; -.
DR PhylomeDB; Q9BX70; -.
DR TreeFam; TF106482; -.
DR PathwayCommons; Q9BX70; -.
DR SignaLink; Q9BX70; -.
DR BioGRID-ORCS; 55643; 16 hits in 1111 CRISPR screens.
DR ChiTaRS; BTBD2; human.
DR EvolutionaryTrace; Q9BX70; -.
DR GeneWiki; BTBD2; -.
DR GenomeRNAi; 55643; -.
DR Pharos; Q9BX70; Tbio.
DR PRO; PR:Q9BX70; -.
DR Proteomes; UP000005640; Chromosome 19.
DR RNAct; Q9BX70; protein.
DR Bgee; ENSG00000133243; Expressed in right frontal lobe and 147 other tissues.
DR ExpressionAtlas; Q9BX70; baseline and differential.
DR Genevisible; Q9BX70; HS.
DR GO; GO:0005829; C:cytosol; IBA:GO_Central.
DR GO; GO:0000932; C:P-body; IDA:UniProtKB.
DR GO; GO:0022008; P:neurogenesis; IBA:GO_Central.
DR Gene3D; 2.60.120.820; -; 1.
DR Gene3D; 3.30.710.10; -; 1.
DR InterPro; IPR011705; BACK.
DR InterPro; IPR000210; BTB/POZ_dom.
DR InterPro; IPR012983; PHR.
DR InterPro; IPR038648; PHR_sf.
DR InterPro; IPR011333; SKP1/BTB/POZ_sf.
DR Pfam; PF07707; BACK; 1.
DR Pfam; PF00651; BTB; 1.
DR Pfam; PF08005; PHR; 1.
DR SMART; SM00875; BACK; 1.
DR SMART; SM00225; BTB; 1.
DR SUPFAM; SSF54695; SSF54695; 1.
DR PROSITE; PS50097; BTB; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Alternative splicing; Cytoplasm; Reference proteome.
FT CHAIN 1..525
FT /note="BTB/POZ domain-containing protein 2"
FT /id="PRO_0000186210"
FT DOMAIN 117..187
FT /note="BTB"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00037"
FT REGION 1..86
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..321
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039, ECO:0000303|Ref.3"
FT /id="VSP_010562"
FT CONFLICT 307
FT /note="R -> L (in Ref. 6; CAB96527)"
FT /evidence="ECO:0000305"
FT STRAND 372..375
FT /evidence="ECO:0007829|PDB:3NO8"
FT STRAND 378..384
FT /evidence="ECO:0007829|PDB:3NO8"
FT STRAND 391..399
FT /evidence="ECO:0007829|PDB:3NO8"
FT STRAND 401..409
FT /evidence="ECO:0007829|PDB:3NO8"
FT STRAND 411..426
FT /evidence="ECO:0007829|PDB:3NO8"
FT TURN 427..430
FT /evidence="ECO:0007829|PDB:3NO8"
FT STRAND 431..442
FT /evidence="ECO:0007829|PDB:3NO8"
FT STRAND 448..459
FT /evidence="ECO:0007829|PDB:3NO8"
FT STRAND 465..474
FT /evidence="ECO:0007829|PDB:3NO8"
FT STRAND 476..481
FT /evidence="ECO:0007829|PDB:3NO8"
FT STRAND 484..489
FT /evidence="ECO:0007829|PDB:3NO8"
FT TURN 491..493
FT /evidence="ECO:0007829|PDB:3NO8"
FT STRAND 496..502
FT /evidence="ECO:0007829|PDB:3NO8"
FT STRAND 506..508
FT /evidence="ECO:0007829|PDB:3NO8"
FT STRAND 513..517
FT /evidence="ECO:0007829|PDB:3NO8"
FT STRAND 520..525
FT /evidence="ECO:0007829|PDB:3NO8"
SQ SEQUENCE 525 AA; 55931 MW; 5F4856161702A65D CRC64;
MAAGGSGGRA SCPPGVGVGP GTGGSPGPSA NAAATPAPGN AAAAAAAAAA AAAAPGPTPP
APPGPGTDAQ AAGAERAEEA AGPGAAALQR EAAYNWQASK PTVQERFAFL FNNEVLCDVH
FLVGKGLSSQ RIPAHRFVLA VGSAVFDAMF NGGMATTSTE IELPDVEPAA FLALLKFLYS
DEVQIGPETV MTTLYTAKKY AVPALEAHCV EFLKKNLRAD NAFMLLTQAR LFDEPQLASL
CLENIDKNTA DAITAEGFTD IDLDTLVAVL ERDTLGIREV RLFNAVVRWS EAECQRQQLQ
VTPENRRKVL GKALGLIRFP LMTIEEFAAG PAQSGILVDR EVVSLFLHFT VNPKPRVEFI
DRPRCCLRGK ECSINRFQQV ESRWGYSGTS DRIRFSVNKR IFVVGFGLYG SIHGPTDYQV
NIQIIHTDSN TVLGQNDTGF SCDGSASTFR VMFKEPVEVL PNVNYTACAT LKGPDSHYGT
KGLRKVTHES PTTGAKTCFT FCYAAGNNNG TSVEDGQIPE VIFYT
