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 24-JAN-2024, entry version 197. 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; Q9NX04: AIRIM; NbExp=3; IntAct=EBI-12029004, EBI-8643161; 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; 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; O15131: KPNA5; NbExp=3; IntAct=EBI-12029004, EBI-540602; 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="https://atlasgeneticsoncology.org/gene/42963/POU6F2"; CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- 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 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; 246. DR IntAct; P78424; 138. DR STRING; 9606.ENSP00000384004; -. DR iPTMnet; P78424; -. DR PhosphoSitePlus; P78424; -. DR BioMuta; POU6F2; -. DR DMDM; 327478564; -. DR MassIVE; P78424; -. DR PaxDb; 9606-ENSP00000384004; -. DR PeptideAtlas; P78424; -. DR ProteomicsDB; 57623; -. [P78424-1] DR ProteomicsDB; 57624; -. [P78424-2] DR Antibodypedia; 1767; 219 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 AGR; HGNC:21694; -. 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; 2999029at2759; -. DR PhylomeDB; P78424; -. DR TreeFam; TF350705; -. DR PathwayCommons; P78424; -. DR SignaLink; P78424; -. DR BioGRID-ORCS; 11281; 11 hits in 1169 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 male germ line stem cell (sensu Vertebrata) in testis and 80 other cell types or tissues. DR ExpressionAtlas; P78424; baseline and differential. 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:0006355; P:regulation of DNA-templated transcription; TAS:UniProtKB. DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central. DR GO; GO:0007601; P:visual perception; TAS:ProtInc. DR CDD; cd00086; homeodomain; 1. DR Gene3D; 1.10.10.60; Homeodomain-like; 1. DR Gene3D; 1.10.260.40; lambda repressor-like DNA-binding domains; 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; IPR000327; POU_dom. DR PANTHER; PTHR11636; POU DOMAIN; 1. DR PANTHER; PTHR11636:SF68; POU DOMAIN, CLASS 6, TRANSCRIPTION FACTOR 2; 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; Homeodomain-like; 1. DR SUPFAM; SSF47413; lambda repressor-like DNA-binding domains; 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. DR Genevisible; P78424; HS. 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 //