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GLI1 | GLI family zinc finger 1; Acts as a transcriptional activator. May regulate the transcription of specific genes during normal development. May play a role in craniofacial development and digital development, as well as development of the central nervous system and gastrointestinal tract. Mediates SHH signaling and thus cell proliferation and differentiation (1106 aa) | |||
SIX1 | SIX homeobox 1; May be involved in limb tendon and ligament development (By similarity) (284 aa) | |||
MEIS1 | Meis homeobox 1; Acts as a transcriptional regulator of PAX6. Acts as a transcriptional activator of PF4 in complex with PBX1 or PBX2. Required for hematopoiesis, megakaryocyte lineage development and vascular patterning. May function as a cofactor for HOXA7 and HOXA9 in the induction of myeloid leukemias (390 aa) | |||
APBB1 | amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65); Transcription coregulator that can have both coactivator and corepressor functions. Adapter protein that forms a transcriptionally active complex with the gamma-secretase-derived amyloid precursor protein (APP) intracellular domain. Plays a central role in the response to DNA damage by translocating to the nucleus and inducing apoptosis. May act by specifically recognizing and binding histone H2AX phosphorylated on ’Tyr-142’ (H2AXY142ph) at double-strand breaks (DSBs), recruiting other pro- apoptosis factors such a [...] (708 aa) | |||
SIX2 | SIX homeobox 2; May be involved in limb tendon and ligament development (By similarity) (291 aa) | |||
JUP | junction plakoglobin; Common junctional plaque protein. The membrane- associated plaques are architectural elements in an important strategic position to influence the arrangement and function of both the cytoskeleton and the cells within the tissue. The presence of plakoglobin in both the desmosomes and in the intermediate junctions suggests that it plays a central role in the structure and function of submembranous plaques. Acts as a substrate for VE-PTP and is required by it to stimulate VE- cadherin function in endothelial cells. Can replace beta-catenin in E-cadherin/catenin adhes [...] (745 aa) | |||
TGIF2LY | TGFB-induced factor homeobox 2-like, Y-linked; May have a transcription role in testis. May act as a competitor/regulator of TGIF2LX (185 aa) | |||
TGIF1 | TGFB-induced factor homeobox 1; Binds to a retinoid X receptor (RXR) responsive element from the cellular retinol-binding protein II promoter (CRBPII- RXRE). Inhibits the 9-cis-retinoic acid-dependent RXR alpha transcription activation of the retinoic acid responsive element. Active transcriptional corepressor of SMAD2. Links the nodal signaling pathway to the bifurcation of the forebrain and the establishment of ventral midline structures. May participate in the transmission of nuclear signals during development and in the adult, as illustrated by the down-modulation of the RXR alpha [...] (401 aa) | |||
IRX3 | iroquois homeobox 3; Transcription factor. Involved in SHH-dependent neural patterning. Together with NKX2-2 and NKX6-1 acts to restrict the generation of motor neurons to the appropriate region of the neural tube. Belongs to the class I proteins of neuronal progenitor factors, which are repressed by SHH signals. Involved in the transcriptional repression of MNX1 in non-motor neuron cells (By similarity) (501 aa) | |||
EYA2 | eyes absent homolog 2 (Drosophila) (538 aa) | |||
EYA1 | eyes absent homolog 1 (Drosophila); Tyrosine phosphatase that specifically dephosphorylates ’Tyr-142’ of histone H2AX (H2AXY142ph). ’Tyr-142’ phosphorylation of histone H2AX plays a central role in DNA repair and acts as a mark that distinguishes between apoptotic and repair responses to genotoxic stress. Promotes efficient DNA repair by dephosphorylating H2AX, promoting the recruitment of DNA repair complexes containing MDC1. Its function as histone phosphatase probably explains its role in transcription regulation during organogenesis. Seems to coactivate SIX2, SIX4 and SIX5. May be [...] (592 aa) | |||
CTNNB1 | catenin (cadherin-associated protein), beta 1, 88kDa; Key downstream component of the canonical Wnt signaling pathway. In the absence of Wnt, forms a complex with AXIN1, AXIN2, APC, CSNK1A1 and GSK3B that promotes phosphorylation on N-terminal Ser and Thr residues and ubiquitination of CTNNB1 via BTRC and its subsequent degradation by the proteasome. In the presence of Wnt ligand, CTNNB1 is not ubiquitinated and accumulates in the nucleus, where it acts as a coactivator for transcription factors of the TCF/LEF family, leading to activate Wnt responsive genes. Involved in the regulation [...] (781 aa) | |||
UCKL1 | uridine-cytidine kinase 1-like 1; May contribute to UTP accumulation needed for blast transformation and proliferation (548 aa) | |||
EYA4 | eyes absent homolog 4 (Drosophila); Tyrosine phosphatase that specifically dephosphorylates ’Tyr-142’ of histone H2AX (H2AXY142ph). ’Tyr-142’ phosphorylation of histone H2AX plays a central role in DNA repair and acts as a mark that distinguishes between apoptotic and repair responses to genotoxic stress. Promotes efficient DNA repair by dephosphorylating H2AX, promoting the recruitment of DNA repair complexes containing MDC1. Its function as histone phosphatase probably explains its role in transcription regulation during organogenesis. May be involved in development of the eye (By si [...] (639 aa) | |||
GLI2 | GLI family zinc finger 2; Acts as a transcriptional activator. May play a role during embryogenesis. Binds to the DNA sequence 5’-GAACCACCCA-3’ which is part of the TRE-2S regulatory element that augments the Tax-dependent enhancer of human T-cell leukemia virus type 1. Is involved in the smoothened (SHH) signaling pathway (1586 aa) | |||
TGIF2LX | TGFB-induced factor homeobox 2-like, X-linked; May have a transcription role in testis (241 aa) | |||
TSHZ2 | teashirt zinc finger homeobox 2; Probable transcriptional regulator involved in developmental processes. May act as a transcriptional repressor (Potential) (1034 aa) | |||
UPRT | uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae) (309 aa) | |||
TGIF2 | TGFB-induced factor homeobox 2; Transcriptional repressor, which probably repress transcription by binding directly the 5’-CTGTCAA-3’ DNA sequence or by interacting with TGF-beta activated SMAD proteins. Probably represses transcription via the recruitment of histone deacetylase proteins (237 aa) | |||
SPEN | spen homolog, transcriptional regulator (Drosophila); May serve as a nuclear matrix platform that organizes and integrates transcriptional responses. In osteoblasts, supports transcription activation- synergizes with RUNX2 to enhance FGFR2- mediated activation of the osteocalcin FGF-responsive element (OCFRE) (By similarity). Has also been shown to be an essential corepressor protein, which probably regulates different key pathways such as the Notch pathway. Negative regulator of the Notch pathway via its interaction with RBPSUH, which prevents the association between NOTCH1 and RBPSUH [...] (3664 aa) | |||
MKX | mohawk homeobox; May act as a morphogenetic regulator of cell adhesion (By similarity) (352 aa) | |||
IRX5 | iroquois homeobox 5; Establishes the cardiac repolarization gradient by its repressive actions on the KCND2 potassium-channel gene. Required for retinal cone bipolar cell differentiation. May regulate contrast adaptation in the retina and control specific aspects of visual function in circuits of the mammalian retina (By similarity). Could be involved in the regulation of both the cell cycle and apoptosis in prostate cancer cells. Involved in craniofacial and gonadal development. Modulates the migration of progenitor cell populations in branchial arches and gonads by repressing CXCL12 (483 aa) | |||
GLI3 | GLI family zinc finger 3; Has a dual function as a transcriptional activator and a repressor of the sonic hedgehog (Shh) pathway, and plays a role in limb development. The full-length GLI3 form (GLI3FL) after phosphorylation and nuclear translocation, acts as an activator (GLI3A) while GLI3R, its C-terminally truncated form, acts as a repressor. A proper balance between the GLI3 activator and the repressor GLI3R, rather than the repressor gradient itself or the activator/repressor ratio gradient, specifies limb digit number and identity. In concert with TRPS1, plays a role in regulatin [...] (1580 aa) | |||
MEIS3 | Meis homeobox 3 (421 aa) | |||
MEIS2 | Meis homeobox 2 (477 aa) | |||
ENSG00000259399 | TGIF2-C20orf24 protein (155 aa) |