ABTB2_HUMAN
ID ABTB2_HUMAN Reviewed; 1025 AA.
AC Q8N961; A8K6S9; E9PRW7; Q52LD6; Q6MZW4; Q8NB44;
DT 01-FEB-2005, integrated into UniProtKB/Swiss-Prot.
DT 01-MAY-2013, sequence version 2.
DT 03-AUG-2022, entry version 161.
DE RecName: Full=Ankyrin repeat and BTB/POZ domain-containing protein 2;
GN Name=ABTB2;
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] (ISOFORMS 1 AND 2), AND VARIANT
RP GLN-250.
RC TISSUE=Fetal brain, and Placenta;
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].
RX PubMed=16554811; DOI=10.1038/nature04632;
RA Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K.,
RA Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T.,
RA Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G.,
RA Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C.,
RA Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A.,
RA Hattori M., Rogers J., Lander E.S., Sakaki Y.;
RT "Human chromosome 11 DNA sequence and analysis including novel gene
RT identification.";
RL Nature 440:497-500(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
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 626-1025 (ISOFORM 1/2).
RC TISSUE=Rectum tumor;
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).
CC -!- FUNCTION: May be involved in the initiation of hepatocyte growth.
CC {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8N961-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8N961-2; Sequence=VSP_046439;
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH93968.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=BAC03697.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=BAF84433.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=BAF84433.1; Type=Erroneous termination; Note=Truncated C-terminus.; Evidence={ECO:0000305};
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DR EMBL; AK091560; BAC03697.1; ALT_INIT; mRNA.
DR EMBL; AK095632; BAC04595.1; -; mRNA.
DR EMBL; AK291744; BAF84433.1; ALT_SEQ; mRNA.
DR EMBL; AC090469; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL035079; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL133294; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL139174; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC093968; AAH93968.1; ALT_INIT; mRNA.
DR EMBL; BX640841; CAE45913.3; -; mRNA.
DR CCDS; CCDS7890.2; -. [Q8N961-1]
DR RefSeq; NP_665803.2; NM_145804.2. [Q8N961-1]
DR AlphaFoldDB; Q8N961; -.
DR SMR; Q8N961; -.
DR BioGRID; 117367; 123.
DR IntAct; Q8N961; 5.
DR STRING; 9606.ENSP00000410157; -.
DR iPTMnet; Q8N961; -.
DR PhosphoSitePlus; Q8N961; -.
DR BioMuta; ABTB2; -.
DR DMDM; 485955977; -.
DR EPD; Q8N961; -.
DR jPOST; Q8N961; -.
DR MassIVE; Q8N961; -.
DR MaxQB; Q8N961; -.
DR PaxDb; Q8N961; -.
DR PeptideAtlas; Q8N961; -.
DR PRIDE; Q8N961; -.
DR ProteomicsDB; 23438; -.
DR ProteomicsDB; 72494; -. [Q8N961-1]
DR Antibodypedia; 12992; 68 antibodies from 17 providers.
DR DNASU; 25841; -.
DR Ensembl; ENST00000435224.3; ENSP00000410157.2; ENSG00000166016.6. [Q8N961-1]
DR GeneID; 25841; -.
DR KEGG; hsa:25841; -.
DR MANE-Select; ENST00000435224.3; ENSP00000410157.2; NM_145804.3; NP_665803.2.
DR UCSC; uc001mvl.3; human. [Q8N961-1]
DR CTD; 25841; -.
DR DisGeNET; 25841; -.
DR GeneCards; ABTB2; -.
DR HGNC; HGNC:23842; ABTB2.
DR HPA; ENSG00000166016; Low tissue specificity.
DR neXtProt; NX_Q8N961; -.
DR OpenTargets; ENSG00000166016; -.
DR PharmGKB; PA134937734; -.
DR VEuPathDB; HostDB:ENSG00000166016; -.
DR eggNOG; ENOG502QSQY; Eukaryota.
DR GeneTree; ENSGT00940000157661; -.
DR HOGENOM; CLU_001918_0_0_1; -.
DR InParanoid; Q8N961; -.
DR OMA; LQCNGST; -.
DR OrthoDB; 416322at2759; -.
DR PhylomeDB; Q8N961; -.
DR TreeFam; TF106437; -.
DR PathwayCommons; Q8N961; -.
DR SignaLink; Q8N961; -.
DR BioGRID-ORCS; 25841; 19 hits in 1114 CRISPR screens.
DR ChiTaRS; ABTB2; human.
DR GenomeRNAi; 25841; -.
DR Pharos; Q8N961; Tdark.
DR PRO; PR:Q8N961; -.
DR Proteomes; UP000005640; Chromosome 11.
DR RNAct; Q8N961; protein.
DR Bgee; ENSG00000166016; Expressed in secondary oocyte and 163 other tissues.
DR Genevisible; Q8N961; HS.
DR GO; GO:0046982; F:protein heterodimerization activity; IEA:InterPro.
DR GO; GO:0097237; P:cellular response to toxic substance; IEA:Ensembl.
DR Gene3D; 1.10.20.10; -; 1.
DR Gene3D; 1.25.40.20; -; 1.
DR Gene3D; 3.30.710.10; -; 1.
DR InterPro; IPR002110; Ankyrin_rpt.
DR InterPro; IPR036770; Ankyrin_rpt-contain_sf.
DR InterPro; IPR000210; BTB/POZ_dom.
DR InterPro; IPR009072; Histone-fold.
DR InterPro; IPR011333; SKP1/BTB/POZ_sf.
DR Pfam; PF00023; Ank; 1.
DR Pfam; PF12796; Ank_2; 1.
DR Pfam; PF00651; BTB; 1.
DR SMART; SM00248; ANK; 5.
DR SMART; SM00225; BTB; 1.
DR SUPFAM; SSF47113; SSF47113; 2.
DR SUPFAM; SSF48403; SSF48403; 1.
DR SUPFAM; SSF54695; SSF54695; 1.
DR PROSITE; PS50297; ANK_REP_REGION; 1.
DR PROSITE; PS50088; ANK_REPEAT; 3.
DR PROSITE; PS50097; BTB; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; ANK repeat; Reference proteome; Repeat.
FT CHAIN 1..1025
FT /note="Ankyrin repeat and BTB/POZ domain-containing protein
FT 2"
FT /id="PRO_0000066887"
FT REPEAT 521..550
FT /note="ANK 1"
FT REPEAT 567..596
FT /note="ANK 2"
FT REPEAT 606..635
FT /note="ANK 3"
FT REPEAT 649..678
FT /note="ANK 4"
FT DOMAIN 845..914
FT /note="BTB"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00037"
FT VAR_SEQ 1..186
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_046439"
FT VARIANT 250
FT /note="H -> Q (in dbSNP:rs1925368)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_022087"
FT VARIANT 918
FT /note="T -> A (in dbSNP:rs2473928)"
FT /id="VAR_024171"
FT CONFLICT 189
FT /note="A -> D (in Ref. 1; BAF84433)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 1025 AA; 113656 MW; E0DBA1B9BC0AFB82 CRC64;
MAGTYSSTLK TLEDLTLDSG YGAGDSCRSL SLSSSKSNSQ ALNSSAQQHR GAAWWCYSGS
MNSRHNSWDT VNTVLPEDPE VADLFSRCPR LPELEEFPWT EGDVARVLRK GAGGRRLPQF
SAEAVRRLAG LLRRALIRVA REAQRLSVLH AKCTRFEVQS AVRLVHSWAL AESCALAAVK
ALSLYSMSAG DGLRRGKSAR CGLTFSVGRF FRWMVDTRIS VRIHEYAAIS LTACMENLVE
EIRARVMASH SPDGGGAGGG EVSAEALEMV INNDAELWGV LQPYEHLICG KNANGVLSLP
AYFSPYNGGS LGHDERADAY AQLELRTLEQ SLLATCVGSI SELSDLVSRA MHHMQGRHPL
CPGASPARQA RQPPQPITWS PDALHTLYYF LRCPQMESME NPNLDPPRMT LNNERPFMLL
PPLMEWMRVA ITYAEHRRSL TVDSGDIRQA ARLLLPGLDC EPRQLKPEHC FSSFRRLDAR
AATEKFNQDL GFRMLNCGRT DLINQAIEAL GPDGVNTMDD QGMTPLMYAC AAGDEAMVQM
LIDAGANLDI QVPSNSPRHP SIHPDSRHWT SLTFAVLHGH ISVVQLLLDA GAHVEGSAVN
GGEDSYAETP LQLASAAGNY ELVSLLLSRG ADPLLSMLEA HGMGSSLHED MNCFSHSAAH
GHRNVLRKLL TQPQQAKADV LSLEEILAEG VEESDASSQG SGSEGPVRLS RTRTKALQEA
MYYSAEHGYV DITMELRALG VPWKLHIWIE SLRTSFSQSR YSVVQSLLRD FSSIREEEYN
EELVTEGLQL MFDILKTSKN DSVIQQLATI FTHCYGSSPI PSIPEIRKTL PARLDPHFLN
NKEMSDVTFL VEGKLFYAHK VLLVTASNRF KTLMTNKSEQ DGDSSKTIEI SDMKYHIFQM
MMQYLYYGGT ESMEIPTTDI LELLSAASLF QLDALQRHCE ILCSQTLSME SAVNTYKYAK
IHNAPELALF CEGFFLKHMK ALLEQDAFRQ LIYGRSSKVQ GLDPLQDLQN TLAERVHSVY
ITSRV
