PO6F2_HUMAN
ID PO6F2_HUMAN Reviewed; 691 AA.
AC P78424; A4D1W2; C4AMB9; P78425; Q75ME8; Q86UM6; Q9UDS7;
DT 01-FEB-2003, integrated into UniProtKB/Swiss-Prot.
DT 05-APR-2011, sequence version 3.
DT 03-AUG-2022, entry version 190.
DE RecName: Full=POU domain, class 6, transcription factor 2;
DE AltName: Full=Retina-derived POU domain factor 1;
DE Short=RPF-1;
GN Name=POU6F2; Synonyms=RPF1;
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 [GENOMIC DNA / MRNA] (ISOFORMS 1 AND 2), AND TISSUE
RP SPECIFICITY.
RC TISSUE=Retina;
RX PubMed=8601806; DOI=10.1523/jneurosci.16-07-02261.1996;
RA Zhou H., Yoshioka T., Nathans J.;
RT "Retina-derived POU-domain factor-1: a complex POU-domain gene implicated
RT in the development of retinal ganglion and amacrine cells.";
RL J. Neurosci. 16:2261-2274(1996).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=12853948; DOI=10.1038/nature01782;
RA Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H.,
RA Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K.,
RA Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A.,
RA Delehaunty K.D., Miner T.L., Nash W.E., Cordes M., Du H., Sun H.,
RA Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A.,
RA Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P.,
RA Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M.,
RA Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S.,
RA Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R.,
RA Strowmatt C., Latreille P., Miller N., Johnson D., Murray J.,
RA Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W.,
RA Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A.,
RA Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E.,
RA Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E.,
RA Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A.,
RA Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A.,
RA Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R.,
RA McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H.,
RA Wilson R.K.;
RT "The DNA sequence of human chromosome 7.";
RL Nature 424:157-164(2003).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=12690205; DOI=10.1126/science.1083423;
RA Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K.,
RA Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R.,
RA Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A.,
RA Kanematsu E., Gentles S., Christopoulos C.C., Choufani S., Kwasnicka D.,
RA Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S.,
RA Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R.,
RA Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N.,
RA Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E.,
RA Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R.,
RA Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T.,
RA Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W.,
RA Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A.,
RA Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X.,
RA Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E.,
RA Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H.,
RA Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J.,
RA Adams M.D., Tsui L.-C.;
RT "Human chromosome 7: DNA sequence and biology.";
RL Science 300:767-772(2003).
RN [4]
RP VARIANT WT5 HIS-192.
RX PubMed=11284034; DOI=10.1002/gcc.1116;
RA Perotti D., Testi M.A., Mondini P., Pilotti S., Green E.D., Pession A.,
RA Sozzi G., Pierotti M.A., Fossati-Bellani F., Radice P.;
RT "Refinement within single yeast artificial chromosome clones of a minimal
RT region commonly deleted on the short arm of chromosome 7 in Wilms
RT tumours.";
RL Genes Chromosomes Cancer 31:42-47(2001).
CC -!- FUNCTION: Probable transcription factor likely to be involved in early
CC steps in the differentiation of amacrine and ganglion cells. Recognizes
CC and binds to the DNA sequence 5'-ATGCAAAT-3'. Isoform 1 does not bind
CC DNA.
CC -!- INTERACTION:
CC P78424; Q08043: ACTN3; NbExp=3; IntAct=EBI-12029004, EBI-2880652;
CC P78424; O95994: AGR2; NbExp=3; IntAct=EBI-12029004, EBI-712648;
CC P78424; Q9NXR5-2: ANKRD10; NbExp=3; IntAct=EBI-12029004, EBI-12102070;
CC P78424; Q15052: ARHGEF6; NbExp=3; IntAct=EBI-12029004, EBI-1642523;
CC P78424; Q8WXK3-2: ASB13; NbExp=3; IntAct=EBI-12029004, EBI-12015080;
CC P78424; Q8N9N5-2: BANP; NbExp=3; IntAct=EBI-12029004, EBI-11524452;
CC P78424; Q13515: BFSP2; NbExp=3; IntAct=EBI-12029004, EBI-10229433;
CC P78424; O14503: BHLHE40; NbExp=3; IntAct=EBI-12029004, EBI-711810;
CC P78424; Q9NX04: C1orf109; NbExp=3; IntAct=EBI-12029004, EBI-8643161;
CC P78424; P01031: C5; NbExp=3; IntAct=EBI-12029004, EBI-8558308;
CC P78424; Q8TD31-3: CCHCR1; NbExp=3; IntAct=EBI-12029004, EBI-10175300;
CC P78424; P24863: CCNC; NbExp=3; IntAct=EBI-12029004, EBI-395261;
CC P78424; O75909-2: CCNK; NbExp=3; IntAct=EBI-12029004, EBI-12010594;
CC P78424; Q9UJX2: CDC23; NbExp=3; IntAct=EBI-12029004, EBI-396137;
CC P78424; Q16543: CDC37; NbExp=3; IntAct=EBI-12029004, EBI-295634;
CC P78424; P42773: CDKN2C; NbExp=3; IntAct=EBI-12029004, EBI-711290;
CC P78424; Q13111: CHAF1A; NbExp=3; IntAct=EBI-12029004, EBI-1020839;
CC P78424; Q96Q77: CIB3; NbExp=3; IntAct=EBI-12029004, EBI-10292696;
CC P78424; Q9BW66: CINP; NbExp=3; IntAct=EBI-12029004, EBI-739784;
CC P78424; P68400: CSNK2A1; NbExp=3; IntAct=EBI-12029004, EBI-347804;
CC P78424; P33240: CSTF2; NbExp=3; IntAct=EBI-12029004, EBI-711360;
CC P78424; Q9UI47-2: CTNNA3; NbExp=3; IntAct=EBI-12029004, EBI-11962928;
CC P78424; P26196: DDX6; NbExp=3; IntAct=EBI-12029004, EBI-351257;
CC P78424; O60941-5: DTNB; NbExp=3; IntAct=EBI-12029004, EBI-11984733;
CC P78424; Q8WWB3: DYDC1; NbExp=3; IntAct=EBI-12029004, EBI-740680;
CC P78424; Q9UH73: EBF1; NbExp=3; IntAct=EBI-12029004, EBI-765426;
CC P78424; O00303: EIF3F; NbExp=6; IntAct=EBI-12029004, EBI-711990;
CC P78424; Q13541: EIF4EBP1; NbExp=3; IntAct=EBI-12029004, EBI-74090;
CC P78424; O15197-2: EPHB6; NbExp=3; IntAct=EBI-12029004, EBI-10182490;
CC P78424; Q14192: FHL2; NbExp=3; IntAct=EBI-12029004, EBI-701903;
CC P78424; Q53EP0-3: FNDC3B; NbExp=3; IntAct=EBI-12029004, EBI-10242151;
CC P78424; P53539: FOSB; NbExp=5; IntAct=EBI-12029004, EBI-2806743;
CC P78424; O75603: GCM2; NbExp=3; IntAct=EBI-12029004, EBI-10188645;
CC P78424; Q9BZE0: GLIS2; NbExp=3; IntAct=EBI-12029004, EBI-7251368;
CC P78424; Q9UKD1: GMEB2; NbExp=3; IntAct=EBI-12029004, EBI-948296;
CC P78424; A6NEM1: GOLGA6L9; NbExp=3; IntAct=EBI-12029004, EBI-5916454;
CC P78424; A0A024R8L2: hCG_1987119; NbExp=3; IntAct=EBI-12029004, EBI-14103818;
CC P78424; A0A024R4Z4: hCG_2042749; NbExp=3; IntAct=EBI-12029004, EBI-14231181;
CC P78424; O14964: HGS; NbExp=3; IntAct=EBI-12029004, EBI-740220;
CC P78424; P35680: HNF1B; NbExp=3; IntAct=EBI-12029004, EBI-2798841;
CC P78424; Q00444: HOXC5; NbExp=3; IntAct=EBI-12029004, EBI-11955357;
CC P78424; P31273: HOXC8; NbExp=3; IntAct=EBI-12029004, EBI-1752118;
CC P78424; P34932: HSPA4; NbExp=3; IntAct=EBI-12029004, EBI-356933;
CC P78424; Q86VF2-5: IGFN1; NbExp=3; IntAct=EBI-12029004, EBI-11955401;
CC P78424; P12268: IMPDH2; NbExp=3; IntAct=EBI-12029004, EBI-353389;
CC P78424; Q8NA54: IQUB; NbExp=3; IntAct=EBI-12029004, EBI-10220600;
CC P78424; P78413: IRX4; NbExp=3; IntAct=EBI-12029004, EBI-12073510;
CC P78424; Q2M1V0: ISX; NbExp=3; IntAct=EBI-12029004, EBI-6426064;
CC P78424; Q8NAX2: KDF1; NbExp=3; IntAct=EBI-12029004, EBI-11997992;
CC P78424; P33176: KIF5B; NbExp=3; IntAct=EBI-12029004, EBI-355878;
CC P78424; Q9NVR0: KLHL11; NbExp=3; IntAct=EBI-12029004, EBI-2691832;
CC P78424; O60684: KPNA6; NbExp=3; IntAct=EBI-12029004, EBI-359923;
CC P78424; Q8IUC2: KRTAP8-1; NbExp=3; IntAct=EBI-12029004, EBI-10261141;
CC P78424; Q969R5: L3MBTL2; NbExp=3; IntAct=EBI-12029004, EBI-739909;
CC P78424; Q6P4E2: LARP4; NbExp=3; IntAct=EBI-12029004, EBI-12079790;
CC P78424; Q03252: LMNB2; NbExp=3; IntAct=EBI-12029004, EBI-2830427;
CC P78424; Q8TAP4-4: LMO3; NbExp=3; IntAct=EBI-12029004, EBI-11742507;
CC P78424; Q8TBB1: LNX1; NbExp=3; IntAct=EBI-12029004, EBI-739832;
CC P78424; Q17RB8: LONRF1; NbExp=3; IntAct=EBI-12029004, EBI-2341787;
CC P78424; P43365: MAGEA12; NbExp=3; IntAct=EBI-12029004, EBI-749530;
CC P78424; P45984: MAPK9; NbExp=3; IntAct=EBI-12029004, EBI-713568;
CC P78424; O14770-4: MEIS2; NbExp=3; IntAct=EBI-12029004, EBI-8025850;
CC P78424; Q9BRT3: MIEN1; NbExp=3; IntAct=EBI-12029004, EBI-6137472;
CC P78424; P55197-2: MLLT10; NbExp=3; IntAct=EBI-12029004, EBI-12853322;
CC P78424; Q15014: MORF4L2; NbExp=3; IntAct=EBI-12029004, EBI-399257;
CC P78424; Q8IXL7-2: MSRB3; NbExp=3; IntAct=EBI-12029004, EBI-10699187;
CC P78424; P35548: MSX2; NbExp=3; IntAct=EBI-12029004, EBI-6447480;
CC P78424; Q01449: MYL7; NbExp=3; IntAct=EBI-12029004, EBI-10222416;
CC P78424; Q9Y4Z2: NEUROG3; NbExp=3; IntAct=EBI-12029004, EBI-10328570;
CC P78424; Q13952-2: NFYC; NbExp=3; IntAct=EBI-12029004, EBI-11956831;
CC P78424; P78367: NKX3-2; NbExp=3; IntAct=EBI-12029004, EBI-12077522;
CC P78424; Q9Y5B8: NME7; NbExp=3; IntAct=EBI-12029004, EBI-744782;
CC P78424; Q9H1M0: NUP62CL; NbExp=3; IntAct=EBI-12029004, EBI-751933;
CC P78424; Q9UMX2-2: OAZ3; NbExp=3; IntAct=EBI-12029004, EBI-12049527;
CC P78424; O43482: OIP5; NbExp=3; IntAct=EBI-12029004, EBI-536879;
CC P78424; O14841: OPLAH; NbExp=3; IntAct=EBI-12029004, EBI-3938544;
CC P78424; Q96CV9: OPTN; NbExp=3; IntAct=EBI-12029004, EBI-748974;
CC P78424; Q9UM07: PADI4; NbExp=3; IntAct=EBI-12029004, EBI-1042511;
CC P78424; Q9HBI0: PARVG; NbExp=3; IntAct=EBI-12029004, EBI-3921217;
CC P78424; Q13956: PDE6H; NbExp=3; IntAct=EBI-12029004, EBI-10231995;
CC P78424; Q4G0R1: PIBF1; NbExp=3; IntAct=EBI-12029004, EBI-14066006;
CC P78424; Q16512: PKN1; NbExp=3; IntAct=EBI-12029004, EBI-602382;
CC P78424; Q9HDD0: PLAAT1; NbExp=3; IntAct=EBI-12029004, EBI-12387058;
CC P78424; Q8IYS1: PM20D2; NbExp=3; IntAct=EBI-12029004, EBI-11339910;
CC P78424; Q9BUI4: POLR3C; NbExp=3; IntAct=EBI-12029004, EBI-5452779;
CC P78424; P14859-6: POU2F1; NbExp=3; IntAct=EBI-12029004, EBI-11526590;
CC P78424; Q9Y3C6: PPIL1; NbExp=3; IntAct=EBI-12029004, EBI-2557649;
CC P78424; O43314-2: PPIP5K2; NbExp=3; IntAct=EBI-12029004, EBI-12906508;
CC P78424; O75360: PROP1; NbExp=3; IntAct=EBI-12029004, EBI-9027467;
CC P78424; P86480: PRR20D; NbExp=3; IntAct=EBI-12029004, EBI-12754095;
CC P78424; Q2TAL8: QRICH1; NbExp=3; IntAct=EBI-12029004, EBI-2798044;
CC P78424; P54727: RAD23B; NbExp=3; IntAct=EBI-12029004, EBI-954531;
CC P78424; Q14498: RBM39; NbExp=3; IntAct=EBI-12029004, EBI-395290;
CC P78424; Q93062-3: RBPMS; NbExp=3; IntAct=EBI-12029004, EBI-740343;
CC P78424; Q96CP1: RELA; NbExp=3; IntAct=EBI-12029004, EBI-10489476;
CC P78424; Q15475: SIX1; NbExp=3; IntAct=EBI-12029004, EBI-743675;
CC P78424; Q99717: SMAD5; NbExp=3; IntAct=EBI-12029004, EBI-6391136;
CC P78424; Q8NB12: SMYD1; NbExp=3; IntAct=EBI-12029004, EBI-8463848;
CC P78424; Q92673: SORL1; NbExp=3; IntAct=EBI-12029004, EBI-1171329;
CC P78424; P56693: SOX10; NbExp=3; IntAct=EBI-12029004, EBI-1167533;
CC P78424; Q9Y2M2-2: SSUH2; NbExp=3; IntAct=EBI-12029004, EBI-12231891;
CC P78424; Q99469: STAC; NbExp=3; IntAct=EBI-12029004, EBI-2652799;
CC P78424; Q7Z7C7: STRA8; NbExp=3; IntAct=EBI-12029004, EBI-12036261;
CC P78424; O95947: TBX6; NbExp=3; IntAct=EBI-12029004, EBI-2824328;
CC P78424; Q15560: TCEA2; NbExp=3; IntAct=EBI-12029004, EBI-710310;
CC P78424; Q96A09: TENT5B; NbExp=3; IntAct=EBI-12029004, EBI-752030;
CC P78424; Q6YHU6-6: THADA; NbExp=3; IntAct=EBI-12029004, EBI-12232803;
CC P78424; Q9NVV9: THAP1; NbExp=3; IntAct=EBI-12029004, EBI-741515;
CC P78424; O43763: TLX2; NbExp=3; IntAct=EBI-12029004, EBI-6101484;
CC P78424; O43711: TLX3; NbExp=3; IntAct=EBI-12029004, EBI-3939165;
CC P78424; O14787-2: TNPO2; NbExp=3; IntAct=EBI-12029004, EBI-12076664;
CC P78424; P22105-1: TNXB; NbExp=3; IntAct=EBI-12029004, EBI-20753895;
CC P78424; Q12888: TP53BP1; NbExp=3; IntAct=EBI-12029004, EBI-396540;
CC P78424; Q86UV6-2: TRIM74; NbExp=3; IntAct=EBI-12029004, EBI-10259086;
CC P78424; Q8N7C3: TRIML2; NbExp=3; IntAct=EBI-12029004, EBI-11059915;
CC P78424; Q86WV8: TSC1; NbExp=5; IntAct=EBI-12029004, EBI-12806590;
CC P78424; Q8WW01: TSEN15; NbExp=3; IntAct=EBI-12029004, EBI-372432;
CC P78424; Q6DKK2: TTC19; NbExp=3; IntAct=EBI-12029004, EBI-948354;
CC P78424; Q5W5X9-3: TTC23; NbExp=3; IntAct=EBI-12029004, EBI-9090990;
CC P78424; Q9BSL1: UBAC1; NbExp=3; IntAct=EBI-12029004, EBI-749370;
CC P78424; Q6NVU6: UFSP1; NbExp=3; IntAct=EBI-12029004, EBI-12068150;
CC P78424; Q9UIW0: VAX2; NbExp=3; IntAct=EBI-12029004, EBI-12090999;
CC P78424; O95231: VENTX; NbExp=3; IntAct=EBI-12029004, EBI-10191303;
CC P78424; Q14119: VEZF1; NbExp=3; IntAct=EBI-12029004, EBI-11980193;
CC P78424; Q9Y2B5: VPS9D1; NbExp=3; IntAct=EBI-12029004, EBI-9031083;
CC P78424; O43592: XPOT; NbExp=3; IntAct=EBI-12029004, EBI-286683;
CC P78424; O43167: ZBTB24; NbExp=3; IntAct=EBI-12029004, EBI-744471;
CC P78424; Q9P1Z0: ZBTB4; NbExp=3; IntAct=EBI-12029004, EBI-2564133;
CC P78424; A2RRC6: ZFHX2; NbExp=3; IntAct=EBI-12029004, EBI-11994144;
CC P78424; Q15911-2: ZFHX3; NbExp=3; IntAct=EBI-12029004, EBI-10237226;
CC P78424; Q6P2D0: ZFP1; NbExp=3; IntAct=EBI-12029004, EBI-2555749;
CC P78424; Q9NZV7: ZIM2; NbExp=3; IntAct=EBI-12029004, EBI-11962760;
CC P78424; Q9H0C1: ZMYND12; NbExp=3; IntAct=EBI-12029004, EBI-12030590;
CC P78424; Q9UQR1-2: ZNF148; NbExp=3; IntAct=EBI-12029004, EBI-11742222;
CC P78424; Q9P2F9: ZNF319; NbExp=3; IntAct=EBI-12029004, EBI-11993110;
CC P78424; Q86VK4-3: ZNF410; NbExp=3; IntAct=EBI-12029004, EBI-11741890;
CC P78424; Q6ZN55-2: ZNF574; NbExp=3; IntAct=EBI-12029004, EBI-17189720;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=P78424-1; Sequence=Displayed;
CC Name=2;
CC IsoId=P78424-2; Sequence=VSP_002336;
CC -!- TISSUE SPECIFICITY: Expressed only within the CNS, where its expression
CC is restricted to the medical habenulla, to a dispersed population of
CC neurons in the dorsal hypothalamus, and to subsets of ganglion and
CC amacrine cells in the retina. {ECO:0000269|PubMed:8601806}.
CC -!- DISEASE: Hereditary susceptibility to Wilms tumor 5 (WT5) [MIM:601583]:
CC Pediatric malignancy of kidney and one of the most common solid cancers
CC in childhood. {ECO:0000269|PubMed:11284034}. Note=The disease is caused
CC by variants affecting the gene represented in this entry.
CC -!- MISCELLANEOUS: [Isoform 1]: Major isoform.
CC -!- SIMILARITY: Belongs to the POU transcription factor family. Class-6
CC subfamily. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAB49727.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
CC Sequence=AAB49728.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=AAS07475.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=EAL23992.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
CC -!- WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and
CC Haematology;
CC URL="http://atlasgeneticsoncology.org/Genes/POU6F2ID42963ch7p14.html";
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DR EMBL; U91934; AAB49727.1; ALT_SEQ; Genomic_DNA.
DR EMBL; U91935; AAB49728.1; ALT_INIT; mRNA.
DR EMBL; AC005483; AAC83404.2; -; Genomic_DNA.
DR EMBL; AC073345; AAS07475.1; ALT_INIT; Genomic_DNA.
DR EMBL; AC092174; AAP21873.1; -; Genomic_DNA.
DR EMBL; AC011292; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH236951; EAL23992.1; ALT_SEQ; Genomic_DNA.
DR CCDS; CCDS34620.2; -. [P78424-1]
DR CCDS; CCDS55103.1; -. [P78424-2]
DR RefSeq; NP_001159490.1; NM_001166018.1. [P78424-2]
DR RefSeq; NP_009183.3; NM_007252.3. [P78424-1]
DR AlphaFoldDB; P78424; -.
DR SMR; P78424; -.
DR BioGRID; 116437; 245.
DR IntAct; P78424; 137.
DR STRING; 9606.ENSP00000384004; -.
DR iPTMnet; P78424; -.
DR PhosphoSitePlus; P78424; -.
DR BioMuta; POU6F2; -.
DR DMDM; 327478564; -.
DR MassIVE; P78424; -.
DR PaxDb; P78424; -.
DR PeptideAtlas; P78424; -.
DR PRIDE; P78424; -.
DR Antibodypedia; 1767; 211 antibodies from 27 providers.
DR DNASU; 11281; -.
DR Ensembl; ENST00000403058.6; ENSP00000384004.1; ENSG00000106536.21. [P78424-1]
DR GeneID; 11281; -.
DR KEGG; hsa:11281; -.
DR UCSC; uc003thb.3; human. [P78424-1]
DR CTD; 11281; -.
DR DisGeNET; 11281; -.
DR GeneCards; POU6F2; -.
DR HGNC; HGNC:21694; POU6F2.
DR HPA; ENSG00000106536; Tissue enhanced (brain).
DR MalaCards; POU6F2; -.
DR MIM; 601583; phenotype.
DR MIM; 609062; gene.
DR neXtProt; NX_P78424; -.
DR OpenTargets; ENSG00000106536; -.
DR Orphanet; 654; Nephroblastoma.
DR PharmGKB; PA134969420; -.
DR VEuPathDB; HostDB:ENSG00000106536; -.
DR eggNOG; KOG3802; Eukaryota.
DR GeneTree; ENSGT00940000156175; -.
DR HOGENOM; CLU_013065_6_1_1; -.
DR InParanoid; P78424; -.
DR OrthoDB; 474850at2759; -.
DR PhylomeDB; P78424; -.
DR TreeFam; TF350705; -.
DR PathwayCommons; P78424; -.
DR SignaLink; P78424; -.
DR BioGRID-ORCS; 11281; 10 hits in 1089 CRISPR screens.
DR ChiTaRS; POU6F2; human.
DR GenomeRNAi; 11281; -.
DR Pharos; P78424; Tbio.
DR PRO; PR:P78424; -.
DR Proteomes; UP000005640; Chromosome 7.
DR RNAct; P78424; protein.
DR Bgee; ENSG00000106536; Expressed in ventricular zone and 80 other tissues.
DR ExpressionAtlas; P78424; baseline and differential.
DR Genevisible; P78424; HS.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
DR GO; GO:0003700; F:DNA-binding transcription factor activity; TAS:UniProtKB.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; ISA:NTNU_SB.
DR GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IBA:GO_Central.
DR GO; GO:0007417; P:central nervous system development; TAS:ProtInc.
DR GO; GO:0007402; P:ganglion mother cell fate determination; TAS:ProtInc.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR GO; GO:0006355; P:regulation of transcription, DNA-templated; TAS:UniProtKB.
DR GO; GO:0007601; P:visual perception; TAS:ProtInc.
DR CDD; cd00086; homeodomain; 1.
DR Gene3D; 1.10.260.40; -; 1.
DR InterPro; IPR009057; Homeobox-like_sf.
DR InterPro; IPR001356; Homeobox_dom.
DR InterPro; IPR010982; Lambda_DNA-bd_dom_sf.
DR InterPro; IPR013847; POU.
DR InterPro; IPR033056; POU6F2.
DR InterPro; IPR000327; POU_dom.
DR PANTHER; PTHR11636:SF68; PTHR11636:SF68; 1.
DR Pfam; PF00046; Homeodomain; 1.
DR Pfam; PF00157; Pou; 2.
DR PRINTS; PR00028; POUDOMAIN.
DR SMART; SM00389; HOX; 1.
DR SMART; SM00352; POU; 1.
DR SUPFAM; SSF46689; SSF46689; 1.
DR SUPFAM; SSF47413; SSF47413; 1.
DR PROSITE; PS50071; HOMEOBOX_2; 1.
DR PROSITE; PS00035; POU_1; 1.
DR PROSITE; PS00465; POU_2; 1.
DR PROSITE; PS51179; POU_3; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Disease variant; DNA-binding; Homeobox; Nucleus;
KW Reference proteome; Transcription; Transcription regulation.
FT CHAIN 1..691
FT /note="POU domain, class 6, transcription factor 2"
FT /id="PRO_0000100762"
FT DOMAIN 476..586
FT /note="POU-specific"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00530"
FT DNA_BIND 607..666
FT /note="Homeobox"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00108"
FT REGION 25..93
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 186..297
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 435..461
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 218..236
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 237..277
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 278..294
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 524..559
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:8601806"
FT /id="VSP_002336"
FT VARIANT 192
FT /note="Q -> H (in WT5)"
FT /evidence="ECO:0000269|PubMed:11284034"
FT /id="VAR_022419"
FT VARIANT 199
FT /note="P -> L (in dbSNP:rs2074936)"
FT /id="VAR_028410"
FT VARIANT 500
FT /note="L -> M (in dbSNP:rs4992268)"
FT /id="VAR_028411"
FT VARIANT 639
FT /note="E -> K (in dbSNP:rs7804851)"
FT /id="VAR_028412"
FT CONFLICT 196
FT /note="Q -> QQ (in Ref. 1; AAB49727/AAB49728)"
FT /evidence="ECO:0000305"
FT CONFLICT 258
FT /note="Q -> H (in Ref. 1; AAB49727/AAB49728)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 691 AA; 73265 MW; 3460C858ECBB5535 CRC64;
MSALLQDPMI AGQVSKPLLS VRSEMNAELR GEDKAATSDS ELNEPLLAPV ESNDSEDTPS
KLFGARGNPA LSDPGTPDQH QASQTHPPFP VGPQPLLTAQ QLASAVAGVM PGGPPALNQP
ILIPFNMAGQ LGGQQGLVLT LPTANLTNIQ GLVAAAAAGG IMTLPLQNLQ ATSSLNSQLQ
QLQLQLQQQQ QQQQQQPPPS TNQHPQPAPQ APSQSQQQPL QPTPPQQPPP ASQQPPAPTS
QLQQAPQPQQ HQPHSHSQNQ NQPSPTQQSS SPPQKPSQSP GHGLPSPLTP PNPLQLVNNP
LASQAAAAAA AMSSIASSQA FGNALSSLQG VTGQLVTNAQ GQIIGTIPLM PNPGPSSQAA
SGTQGLQVQP ITPQLLTNAQ GQIIATVIGN QILPVINTQG ITLSPIKPGQ QLHQPSQTSV
GQAASQGNLL HLAHSQASMS QSPVRQASSS SSSSSSSSAL SVGQLVSNPQ TAAGEVDGVN
LEEIREFAKA FKIRRLSLGL TQTQVGQALS ATEGPAYSQS AICRHTILRS HFFLPQEAQE
NTIASSLTAK LNPGLLYPAR FEKLDITPKS AQKIKPVLER WMAEAEARHR AGMQNLTEFI
GSEPSKKRKR RTSFTPQALE ILNAHFEKNT HPSGQEMTEI AEKLNYDREV VRVWFCNKRQ
ALKNTIKRLK QHEPATAVPL EPLTDSLEEN S
