KBTB2_HUMAN
ID KBTB2_HUMAN Reviewed; 623 AA.
AC Q8IY47; A8K9T7; Q86Y62; Q9P239; Q9UFM7; Q9Y382;
DT 25-JUL-2003, integrated into UniProtKB/Swiss-Prot.
DT 25-JUL-2003, sequence version 2.
DT 03-AUG-2022, entry version 155.
DE RecName: Full=Kelch repeat and BTB domain-containing protein 2;
DE AltName: Full=BTB and kelch domain-containing protein 1;
GN Name=KBTBD2; Synonyms=BKLHD1, KIAA1489; ORFNames=CGI-73;
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 [LARGE SCALE MRNA].
RC TISSUE=Trachea;
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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANTS LYS-166; GLY-189;
RP ARG-254; ARG-301; ILE-534 AND TYR-594.
RC TISSUE=Brain;
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-376.
RX PubMed=10810093; DOI=10.1101/gr.10.5.703;
RA Lai C.-H., Chou C.-Y., Ch'ang L.-Y., Liu C.-S., Lin W.-C.;
RT "Identification of novel human genes evolutionarily conserved in
RT Caenorhabditis elegans by comparative proteomics.";
RL Genome Res. 10:703-713(2000).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 113-623.
RC TISSUE=Brain;
RX PubMed=10819331; DOI=10.1093/dnares/7.2.143;
RA Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. XVII. The
RT complete sequences of 100 new cDNA clones from brain which code for large
RT proteins in vitro.";
RL DNA Res. 7:143-150(2000).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 276-623.
RC TISSUE=Kidney;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [7]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-300, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Leukemic T-cell;
RX PubMed=19690332; DOI=10.1126/scisignal.2000007;
RA Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K.,
RA Rodionov V., Han D.K.;
RT "Quantitative phosphoproteomic analysis of T cell receptor signaling
RT reveals system-wide modulation of protein-protein interactions.";
RL Sci. Signal. 2:RA46-RA46(2009).
CC -!- SEQUENCE CAUTION:
CC Sequence=AAD34068.1; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AK292802; BAF85491.1; -; mRNA.
DR EMBL; CH471073; EAW94000.1; -; Genomic_DNA.
DR EMBL; BC037887; AAH37887.1; -; mRNA.
DR EMBL; BC047107; AAH47107.1; -; mRNA.
DR EMBL; AF151831; AAD34068.1; ALT_FRAME; mRNA.
DR EMBL; AB040922; BAA96013.1; -; mRNA.
DR EMBL; AL117562; CAB55994.1; -; mRNA.
DR CCDS; CCDS34614.1; -.
DR PIR; T17304; T17304.
DR RefSeq; NP_056298.2; NM_015483.2.
DR RefSeq; XP_005249753.1; XM_005249696.2.
DR RefSeq; XP_011513558.1; XM_011515256.2.
DR AlphaFoldDB; Q8IY47; -.
DR SMR; Q8IY47; -.
DR BioGRID; 117443; 10.
DR IntAct; Q8IY47; 4.
DR STRING; 9606.ENSP00000302586; -.
DR iPTMnet; Q8IY47; -.
DR PhosphoSitePlus; Q8IY47; -.
DR BioMuta; KBTBD2; -.
DR DMDM; 33301029; -.
DR EPD; Q8IY47; -.
DR jPOST; Q8IY47; -.
DR MassIVE; Q8IY47; -.
DR MaxQB; Q8IY47; -.
DR PaxDb; Q8IY47; -.
DR PeptideAtlas; Q8IY47; -.
DR PRIDE; Q8IY47; -.
DR ProteomicsDB; 71106; -.
DR Antibodypedia; 12767; 83 antibodies from 19 providers.
DR DNASU; 25948; -.
DR Ensembl; ENST00000304056.9; ENSP00000302586.4; ENSG00000170852.12.
DR GeneID; 25948; -.
DR KEGG; hsa:25948; -.
DR MANE-Select; ENST00000304056.9; ENSP00000302586.4; NM_015483.3; NP_056298.2.
DR UCSC; uc003tdb.3; human.
DR CTD; 25948; -.
DR DisGeNET; 25948; -.
DR GeneCards; KBTBD2; -.
DR HGNC; HGNC:21751; KBTBD2.
DR HPA; ENSG00000170852; Low tissue specificity.
DR MIM; 619393; gene.
DR neXtProt; NX_Q8IY47; -.
DR OpenTargets; ENSG00000170852; -.
DR PharmGKB; PA134892896; -.
DR VEuPathDB; HostDB:ENSG00000170852; -.
DR eggNOG; KOG4441; Eukaryota.
DR GeneTree; ENSGT00940000156069; -.
DR InParanoid; Q8IY47; -.
DR OMA; VYCDGYI; -.
DR OrthoDB; 249821at2759; -.
DR PhylomeDB; Q8IY47; -.
DR TreeFam; TF332672; -.
DR PathwayCommons; Q8IY47; -.
DR SignaLink; Q8IY47; -.
DR BioGRID-ORCS; 25948; 64 hits in 1111 CRISPR screens.
DR ChiTaRS; KBTBD2; human.
DR GenomeRNAi; 25948; -.
DR Pharos; Q8IY47; Tdark.
DR PRO; PR:Q8IY47; -.
DR Proteomes; UP000005640; Chromosome 7.
DR RNAct; Q8IY47; protein.
DR Bgee; ENSG00000170852; Expressed in secondary oocyte and 207 other tissues.
DR ExpressionAtlas; Q8IY47; baseline and differential.
DR Genevisible; Q8IY47; HS.
DR GO; GO:0010467; P:gene expression; IEA:Ensembl.
DR GO; GO:0006006; P:glucose metabolic process; IEA:Ensembl.
DR GO; GO:0006629; P:lipid metabolic process; IEA:Ensembl.
DR GO; GO:0014065; P:phosphatidylinositol 3-kinase signaling; IEA:Ensembl.
DR GO; GO:0032868; P:response to insulin; IEA:Ensembl.
DR Gene3D; 2.120.10.80; -; 1.
DR Gene3D; 3.30.710.10; -; 1.
DR InterPro; IPR011705; BACK.
DR InterPro; IPR017096; BTB-kelch_protein.
DR InterPro; IPR000210; BTB/POZ_dom.
DR InterPro; IPR030586; KBTBD2.
DR InterPro; IPR015915; Kelch-typ_b-propeller.
DR InterPro; IPR006652; Kelch_1.
DR InterPro; IPR011333; SKP1/BTB/POZ_sf.
DR PANTHER; PTHR24412:SF192; PTHR24412:SF192; 1.
DR Pfam; PF07707; BACK; 1.
DR Pfam; PF00651; BTB; 1.
DR Pfam; PF01344; Kelch_1; 1.
DR PIRSF; PIRSF037037; Kelch-like_protein_gigaxonin; 1.
DR SMART; SM00875; BACK; 1.
DR SMART; SM00225; BTB; 1.
DR SMART; SM00612; Kelch; 4.
DR SUPFAM; SSF117281; SSF117281; 1.
DR SUPFAM; SSF54695; SSF54695; 1.
DR PROSITE; PS50097; BTB; 1.
PE 1: Evidence at protein level;
KW Kelch repeat; Phosphoprotein; Reference proteome; Repeat.
FT CHAIN 1..623
FT /note="Kelch repeat and BTB domain-containing protein 2"
FT /id="PRO_0000119077"
FT DOMAIN 31..98
FT /note="BTB"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00037"
FT REPEAT 317..380
FT /note="Kelch 1"
FT REPEAT 381..429
FT /note="Kelch 2"
FT REPEAT 431..469
FT /note="Kelch 3"
FT REPEAT 470..529
FT /note="Kelch 4"
FT REPEAT 535..581
FT /note="Kelch 5"
FT MOD_RES 300
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:19690332"
FT VARIANT 166
FT /note="Q -> K (in dbSNP:rs17853781)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_037766"
FT VARIANT 189
FT /note="E -> G (in dbSNP:rs17854425)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_037767"
FT VARIANT 193
FT /note="T -> P (in dbSNP:rs35477666)"
FT /id="VAR_037768"
FT VARIANT 254
FT /note="P -> R (in dbSNP:rs17857323)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_037769"
FT VARIANT 301
FT /note="P -> R (in dbSNP:rs17857324)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_037770"
FT VARIANT 534
FT /note="L -> I (in dbSNP:rs17854424)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_037771"
FT VARIANT 594
FT /note="S -> Y (in dbSNP:rs17853783)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_037772"
FT CONFLICT 167
FT /note="D -> V (in Ref. 4; AAD34068)"
FT /evidence="ECO:0000305"
FT CONFLICT 181
FT /note="L -> F (in Ref. 4; AAD34068)"
FT /evidence="ECO:0000305"
FT CONFLICT 276
FT /note="S -> A (in Ref. 6; CAB55994)"
FT /evidence="ECO:0000305"
FT CONFLICT 543
FT /note="L -> S (in Ref. 6; CAB55994)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 623 AA; 71331 MW; A999ED0429B92772 CRC64;
MSTQDERQIN TEYAVSLLEQ LKLFYEQQLF TDIVLIVEGT EFPCHKMVLA TCSSYFRAMF
MSGLSESKQT HVHLRNVDAA TLQIIITYAY TGNLAMNDST VEQLYETACF LQVEDVLQRC
REYLIKKINA ENCVRLLSFA DLFSCEELKQ SAKRMVEHKF TAVYHQDAFM QLSHDLLIDI
LSSDNLNVEK EETVREAAML WLEYNTESRS QYLSSVLSQI RIDALSEVTQ RAWFQGLPPN
DKSVVVQGLY KSMPKFFKPR LGMTKEEMMI FIEASSENPC SLYSSVCYSP QAEKVYKLCS
PPADLHKVGT VVTPDNDIYI AGGQVPLKNT KTNHSKTSKL QTAFRTVNCF YWFDAQQNTW
FPKTPMLFVR IKPSLVCCEG YIYAIGGDSV GGELNRRTVE RYDTEKDEWT MVSPLPCAWQ
WSAAVVVHDC IYVMTLNLMY CYFPRSDSWV EMAMRQTSRS FASAAAFGDK IFYIGGLHIA
TNSGIRLPSG TVDGSSVTVE IYDVNKNEWK MAANIPAKRY SDPCVRAVVI SNSLCVFMRE
THLNERAKYV TYQYDLELDR WSLRQHISER VLWDLGRDFR CTVGKLYPSC LEESPWKPPT
YLFSTDGTEE FELDGEMVAL PPV
