ID PKNX2_HUMAN Reviewed; 472 AA.
AC Q96KN3; B7Z5I5; F5GZ15; Q63HL6; Q86XD1;
DT 28-NOV-2002, integrated into UniProtKB/Swiss-Prot.
DT 19-SEP-2006, sequence version 2.
DT 27-MAR-2024, entry version 170.
DE RecName: Full=Homeobox protein PKNOX2;
DE AltName: Full=Homeobox protein PREP-2;
DE AltName: Full=PBX/knotted homeobox 2;
GN Name=PKNOX2; Synonyms=PREP2;
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] (ISOFORM 2).
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 MRNA] (ISOFORM 1).
RC TISSUE=Small intestine;
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 [3]
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT GLU-447
RP DEL.
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 [5]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 4-472 (ISOFORM 1), AND SUBCELLULAR LOCATION.
RX PubMed=11549286; DOI=10.1006/bbrc.2001.5578;
RA Imoto I., Sonoda I., Yuki Y., Inazawa J.;
RT "Identification and characterization of human PKNOX2, a novel homeobox-
RT containing gene.";
RL Biochem. Biophys. Res. Commun. 287:270-276(2001).
RN [6]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 13-472 (ISOFORM 1).
RX PubMed=11972344; DOI=10.1093/nar/30.9.2043;
RA Fognani C., Kilstrup-Nielsen C., Berthelsen J., Ferretti E., Zappavigna V.,
RA Blasi F.;
RT "Characterization of PREP2, a paralog of PREP1, which defines a novel sub-
RT family of the MEINOX TALE homeodomain transcription factors.";
RL Nucleic Acids Res. 30:2043-2051(2002).
CC -!- INTERACTION:
CC Q96KN3; P53365: ARFIP2; NbExp=5; IntAct=EBI-2692890, EBI-638194;
CC Q96KN3; Q8TAB5: C1orf216; NbExp=5; IntAct=EBI-2692890, EBI-747505;
CC Q96KN3; Q8IYX3: CCDC116; NbExp=3; IntAct=EBI-2692890, EBI-744311;
CC Q96KN3; Q8N715: CCDC185; NbExp=3; IntAct=EBI-2692890, EBI-740814;
CC Q96KN3; A0A1B0GWI1: CCDC196; NbExp=3; IntAct=EBI-2692890, EBI-10181422;
CC Q96KN3; Q6IPU0: CENPP; NbExp=3; IntAct=EBI-2692890, EBI-10250303;
CC Q96KN3; O60519: CREBL2; NbExp=3; IntAct=EBI-2692890, EBI-2872455;
CC Q96KN3; Q9H0L4: CSTF2T; NbExp=5; IntAct=EBI-2692890, EBI-747012;
CC Q96KN3; Q8WZ74: CTTNBP2; NbExp=3; IntAct=EBI-2692890, EBI-1774260;
CC Q96KN3; Q9P2B4: CTTNBP2NL; NbExp=3; IntAct=EBI-2692890, EBI-1774273;
CC Q96KN3; Q9BW61: DDA1; NbExp=5; IntAct=EBI-2692890, EBI-2510241;
CC Q96KN3; Q9H0I2: ENKD1; NbExp=3; IntAct=EBI-2692890, EBI-744099;
CC Q96KN3; Q8TC76: FAM110B; NbExp=5; IntAct=EBI-2692890, EBI-2558383;
CC Q96KN3; Q14192: FHL2; NbExp=3; IntAct=EBI-2692890, EBI-701903;
CC Q96KN3; A0A024R8L2: hCG_1987119; NbExp=3; IntAct=EBI-2692890, EBI-14103818;
CC Q96KN3; O14964: HGS; NbExp=3; IntAct=EBI-2692890, EBI-740220;
CC Q96KN3; P46940: IQGAP1; NbExp=3; IntAct=EBI-2692890, EBI-297509;
CC Q96KN3; O95983-2: MBD3; NbExp=5; IntAct=EBI-2692890, EBI-11978579;
CC Q96KN3; Q96EZ8: MCRS1; NbExp=3; IntAct=EBI-2692890, EBI-348259;
CC Q96KN3; P48552: NRIP1; NbExp=3; IntAct=EBI-2692890, EBI-746484;
CC Q96KN3; Q7Z3B4: NUP54; NbExp=3; IntAct=EBI-2692890, EBI-741048;
CC Q96KN3; Q9BVL2: NUP58; NbExp=3; IntAct=EBI-2692890, EBI-2811583;
CC Q96KN3; Q9H8K7: PAAT; NbExp=3; IntAct=EBI-2692890, EBI-714785;
CC Q96KN3; Q9BYU1: PBX4; NbExp=3; IntAct=EBI-2692890, EBI-10302990;
CC Q96KN3; Q9NRD5: PICK1; NbExp=3; IntAct=EBI-2692890, EBI-79165;
CC Q96KN3; Q96GM5: SMARCD1; NbExp=3; IntAct=EBI-2692890, EBI-358489;
CC Q96KN3; O75716: STK16; NbExp=3; IntAct=EBI-2692890, EBI-749295;
CC Q96KN3; Q96RU7: TRIB3; NbExp=3; IntAct=EBI-2692890, EBI-492476;
CC Q96KN3; Q99816: TSG101; NbExp=3; IntAct=EBI-2692890, EBI-346882;
CC Q96KN3; Q8N6Y0: USHBP1; NbExp=3; IntAct=EBI-2692890, EBI-739895;
CC Q96KN3; A5D8V6: VPS37C; NbExp=5; IntAct=EBI-2692890, EBI-2559305;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108,
CC ECO:0000269|PubMed:11549286}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q96KN3-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q96KN3-2; Sequence=VSP_054306;
CC -!- SIMILARITY: Belongs to the TALE/MEIS homeobox family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAB83665.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AK298999; BAH12921.1; -; mRNA.
DR EMBL; BX648615; CAH56146.1; -; mRNA.
DR EMBL; AP000708; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AP001007; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AP003061; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AP003069; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC045626; AAH45626.3; -; mRNA.
DR EMBL; AB065001; BAB83665.1; ALT_INIT; mRNA.
DR EMBL; AJ417081; CAD01142.1; -; mRNA.
DR CCDS; CCDS41730.1; -. [Q96KN3-1]
DR PIR; JC7766; JC7766.
DR RefSeq; NP_071345.2; NM_022062.2.
DR RefSeq; XP_005271699.1; XM_005271642.2.
DR RefSeq; XP_011541246.1; XM_011542944.2.
DR RefSeq; XP_011541247.1; XM_011542945.2.
DR RefSeq; XP_016873599.1; XM_017018110.1.
DR AlphaFoldDB; Q96KN3; -.
DR SMR; Q96KN3; -.
DR BioGRID; 121969; 44.
DR IntAct; Q96KN3; 40.
DR STRING; 9606.ENSP00000298282; -.
DR GlyGen; Q96KN3; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q96KN3; -.
DR PhosphoSitePlus; Q96KN3; -.
DR BioMuta; PKNOX2; -.
DR DMDM; 115311621; -.
DR MassIVE; Q96KN3; -.
DR MaxQB; Q96KN3; -.
DR PaxDb; 9606-ENSP00000298282; -.
DR PeptideAtlas; Q96KN3; -.
DR ProteomicsDB; 24907; -.
DR ProteomicsDB; 77086; -. [Q96KN3-1]
DR Pumba; Q96KN3; -.
DR Antibodypedia; 9279; 214 antibodies from 28 providers.
DR DNASU; 63876; -.
DR Ensembl; ENST00000298282.14; ENSP00000298282.8; ENSG00000165495.16. [Q96KN3-1]
DR MANE-Select; ENST00000298282.14; ENSP00000298282.8; NM_001382323.2; NP_001369252.1.
DR UCSC; uc001qbu.4; human. [Q96KN3-1]
DR AGR; HGNC:16714; -.
DR DisGeNET; 63876; -.
DR GeneCards; PKNOX2; -.
DR HGNC; HGNC:16714; PKNOX2.
DR HPA; ENSG00000165495; Tissue enhanced (tongue).
DR MIM; 613066; gene.
DR neXtProt; NX_Q96KN3; -.
DR OpenTargets; ENSG00000165495; -.
DR PharmGKB; PA33355; -.
DR VEuPathDB; HostDB:ENSG00000165495; -.
DR eggNOG; KOG0773; Eukaryota.
DR GeneTree; ENSGT00940000158793; -.
DR HOGENOM; CLU_023139_0_2_1; -.
DR InParanoid; Q96KN3; -.
DR OMA; CAPVNDM; -.
DR OrthoDB; 3180467at2759; -.
DR PhylomeDB; Q96KN3; -.
DR TreeFam; TF318093; -.
DR PathwayCommons; Q96KN3; -.
DR SignaLink; Q96KN3; -.
DR BioGRID-ORCS; 63876; 5 hits in 1166 CRISPR screens.
DR ChiTaRS; PKNOX2; human.
DR GenomeRNAi; 63876; -.
DR Pharos; Q96KN3; Tbio.
DR PRO; PR:Q96KN3; -.
DR Proteomes; UP000005640; Chromosome 11.
DR RNAct; Q96KN3; Protein.
DR Bgee; ENSG00000165495; Expressed in pigmented layer of retina and 169 other cell types or tissues.
DR ExpressionAtlas; Q96KN3; baseline and differential.
DR Genevisible; Q96KN3; HS.
DR GO; GO:0015629; C:actin cytoskeleton; IEA:Ensembl.
DR GO; GO:0005737; C:cytoplasm; IEA:Ensembl.
DR GO; GO:0045171; C:intercellular bridge; IDA:HPA.
DR GO; GO:0015630; C:microtubule cytoskeleton; IEA:Ensembl.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR GO; GO:0051015; F:actin filament binding; IEA:Ensembl.
DR GO; GO:0003785; F:actin monomer binding; IEA:Ensembl.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; IBA:GO_Central.
DR GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IBA:GO_Central.
DR GO; GO:1990837; F:sequence-specific double-stranded DNA binding; IDA:ARUK-UCL.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR CDD; cd00086; homeodomain; 1.
DR Gene3D; 1.10.10.60; Homeodomain-like; 1.
DR InterPro; IPR009057; Homeobox-like_sf.
DR InterPro; IPR001356; Homeobox_dom.
DR InterPro; IPR008422; Homeobox_KN_domain.
DR InterPro; IPR032453; PKNOX/Meis_N.
DR PANTHER; PTHR11850:SF53; HOMEOBOX PROTEIN PKNOX2; 1.
DR PANTHER; PTHR11850; HOMEOBOX PROTEIN TRANSCRIPTION FACTORS; 1.
DR Pfam; PF05920; Homeobox_KN; 1.
DR Pfam; PF16493; Meis_PKNOX_N; 1.
DR SMART; SM00389; HOX; 1.
DR SUPFAM; SSF46689; Homeodomain-like; 1.
DR PROSITE; PS50071; HOMEOBOX_2; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; DNA-binding; Homeobox; Nucleus; Reference proteome.
FT CHAIN 1..472
FT /note="Homeobox protein PKNOX2"
FT /id="PRO_0000049250"
FT DOMAIN 96..179
FT /note="MEIS N-terminal"
FT /evidence="ECO:0000255"
FT DNA_BIND 291..350
FT /note="Homeobox"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00108"
FT REGION 1..62
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 351..371
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 386..405
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 422..472
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 28..53
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 429..456
FT /note="Acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..75
FT /note="MMQHASPAPALTMMATQNVPPPPYQDSPQMTATAQPPSKAQAVHISAPSAAA
FT STPVPSAPIDPQAQLEADKRAVY -> MSRPHPTRTAH (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_054306"
FT VARIANT 110
FT /note="E -> K (in dbSNP:rs34936365)"
FT /id="VAR_049590"
FT VARIANT 447
FT /note="Missing (in dbSNP:rs3832749)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_027500"
FT CONFLICT 427
FT /note="D -> G (in Ref. 1; BAH12921)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 472 AA; 52028 MW; C83EBE0DA3F286E8 CRC64;
MMQHASPAPA LTMMATQNVP PPPYQDSPQM TATAQPPSKA QAVHISAPSA AASTPVPSAP
IDPQAQLEAD KRAVYRHPLF PLLTLLFEKC EQATQGSECI TSASFDVDIE NFVHQQEQEH
KPFFSDDPEL DNLMVKAIQV LRIHLLELEK VNELCKDFCN RYITCLKTKM HSDNLLRNDL
GGPYSPNQPS INLHSQDLLQ NSPNSMSGVS NNPQGIVVPA SALQQGNIAM TTVNSQVVSG
GALYQPVTMV TSQGQVVTQA IPQGAIQIQN TQVNLDLTSL LDNEDKKSKN KRGVLPKHAT
NIMRSWLFQH LMHPYPTEDE KRQIAAQTNL TLLQVNNWFI NARRRILQPM LDASNPDPAP
KAKKIKSQHR PTQRFWPNSI AAGVLQQQGG APGTNPDGSI NLDNLQSLSS DSATMAMQQA
MMAAHDDSLD GTEEEDEDEM EEEEEEELEE EVDELQTTNV SDLGLEHSDS LE
//
