Transcription Factor
| Accessions: | UP00626C (UniPROBE 20160601) |
| Names: | Ceh-10 homeodomain-containing homolog, CHX10, Homeobox protein CHX10, HOX10, MCOP2, MCOPCB3, RET1, visual system homeobox 2, VSX2_R200Q |
| Organisms: | Homo sapiens |
| Libraries: | UniPROBE 20160601 1 1 Hume MA, Barrera LA, Gisselbrecht SS, Bulyk ML. UniPROBE, update 2015: new tools and content for the online database of protein-binding microarray data on protein-DNA interactions. Nucleic Acids Res : (2015). [Pubmed] |
| Description: | visual system homeobox 2: This gene encodes a homeobox protein originally described as a retina-specific transcription factor. Mutations in this gene are associated with microphthalmia, cataracts and iris abnormalities. Plays a significant role in the specification and morphogenesis of the sensory retina. May also participate in the development of the cells of the inner nuclear layer, particularly bipolar cells (By similarity). |
| Length: | 90 |
| Pfam Domains: | 17-73 Homeobox domain |
| Sequence: (in bold interface residues) | 1 RKMSKSALNQTKKRKKRRHRTIFTSYQLEELEKAFNEAHYPDVYAREMLAMKTELPEDRI 60 61 QVWFQNRQAKWRKREKCWGRSSVMAEYGLY |
| Interface Residues: | 17, 18, 19, 20, 58, 59, 61, 62, 65, 66, 69, 70, 72, 73, 74, 75, 77, 78 |
| 3D-footprint Homologues: | 2h1k_B, 1ig7_A, 1puf_A, 3cmy_A, 5zfz_A, 1fjl_B, 3d1n_M, 6a8r_A, 3lnq_A, 2lkx_A, 1jgg_B, 6m3d_C, 1nk2_P, 1zq3_P, 7q3o_C, 6es3_K, 2ld5_A, 5jlw_D, 4xrs_G, 2hdd_A, 1au7_A, 3rkq_B, 2r5y_A, 5flv_I, 2hos_A, 1b72_A, 5zjt_E, 4cyc_A, 7psx_B, 5hod_A, 3a01_E, 1e3o_C, 7xrc_C, 2xsd_C, 1puf_B, 8g87_X, 3l1p_A, 1o4x_A, 1du0_A, 4qtr_D, 1gji_A |
| Binding Motifs: | UP00626C_1 tmmmamvTTAATTAAkwrtmtg |
| Binding Sites: | AATAATTA AATTAATT ACTAATTA ATAATTAA ATAATTAG ATAATTAT ATTAATTA ATTAATTG CATAATTA CTAATTAA CTAATTAG CTTAATTA GATAATTA GCTAATTA GTAATTAC GTTAATTA TAATTAAA TAATTAGA TAATTATA TTAATTAA |
| Publications: | Barrera LA, Vedenko A, Kurland JV, Rogers JM, Gisselbrecht SS, Rossin EJ, Woodard J, Mariani L, Kock KH, Inukai S, Siggers T, Shokri L, Gordân R, Sahni N, Cotsapas C, Hao T, Yi S, Kellis M, Daly MJ, Vidal M, Hill DE, Bulyk ML. Survey of variation in human transcription factors reveals prevalent DNA binding changes. Science 351:1450-4 (2016). [Pubmed] |
| Related annotations: | PaperBLAST |
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