Zinc finger protein GLI2

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functionⁱ

Regions

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functionⁱ

• chromatin binding Source: MGI <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayⁱ
  • "GLI3-dependent transcriptional repression of Gli1, Gli2 and kidney patterning genes disrupts renal morphogenesis."
    Hu M.C., Mo R., Bhella S., Wilson C.W., Chuang P.T., Hui C.C., Rosenblum N.D.
    Development 133:569-578(2006) [PubMed] [Europe PMC] [Abstract]
• DNA-binding transcription activator activity, RNA polymerase II-specific Source: NTNU_SBInferred from direct assayⁱ
  • "The zinc finger transcription factor Gli2 mediates bone morphogenetic protein 2 expression in osteoblasts in response to hedgehog signaling."
    Zhao M., Qiao M., Harris S.E., Chen D., Oyajobi B.O., Mundy G.R.
    Mol Cell Biol 26:6197-6208(2006) [PubMed] [Europe PMC] [Abstract]
• DNA-binding transcription factor activity Source: MGIInferred from direct assayⁱ
  • "The zinc finger transcription factor Gli2 mediates bone morphogenetic protein 2 expression in osteoblasts in response to hedgehog signaling."
    Zhao M., Qiao M., Harris S.E., Chen D., Oyajobi B.O., Mundy G.R.
    Mol Cell Biol 26:6197-6208(2006) [PubMed] [Europe PMC] [Abstract]
• DNA-binding transcription factor activity, RNA polymerase II-specific Source: GO_Central <p>Inferred from Biological aspect of Ancestor</p> <p>A type of phylogenetic evidence whereby an aspect of a descendent is inferred through the characterization of an aspect of a ancestral gene.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#iba">GO evidence code guide</a></p> Inferred from biological aspect of ancestorⁱ
  • "Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium."
    Gaudet P., Livstone M.S., Lewis S.E., Thomas P.D.
    Brief Bioinform 12:449-462(2011) [PubMed] [Europe PMC] [Abstract]
• promoter-specific chromatin binding Source: UniProtKBInferred from direct assayⁱ
  • Ref.11

    "The transcription factor Foxc1 is necessary for Ihh-Gli2-regulated endochondral ossification."
    Yoshida M., Hata K., Takashima R., Ono K., Nakamura E., Takahata Y., Murakami T., Iseki S., Takano-Yamamoto T., Nishimura R., Yoneda T.
    Nat. Commun. 6:6653-6653(2015) [PubMed] [Europe PMC] [Abstract]

    Cited for: INTERACTION WITH FOXC1.
• RNA polymerase II cis-regulatory region sequence-specific DNA binding Source: NTNU_SBInferred from direct assayⁱ
  • "The zinc finger transcription factor Gli2 mediates bone morphogenetic protein 2 expression in osteoblasts in response to hedgehog signaling."
    Zhao M., Qiao M., Harris S.E., Chen D., Oyajobi B.O., Mundy G.R.
    Mol Cell Biol 26:6197-6208(2006) [PubMed] [Europe PMC] [Abstract]
• sequence-specific DNA binding Source: MGIInferred from direct assayⁱ
  • "Sonic hedgehog signaling regulates Gli2 transcriptional activity by suppressing its processing and degradation."
    Pan Y., Bai C.B., Joyner A.L., Wang B.
    Mol Cell Biol 26:3365-3377(2006) [PubMed] [Europe PMC] [Abstract]
• sequence-specific double-stranded DNA binding Source: MGI
• transcription factor binding Source: UniProtKB <p>Inferred from Physical Interaction</p> <p>Covers physical interactions between the gene product of interest and another molecule (or ion, or complex).</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ipi">GO evidence code guide</a></p> Inferred from physical interactionⁱ
  • Ref.11

    "The transcription factor Foxc1 is necessary for Ihh-Gli2-regulated endochondral ossification."
    Yoshida M., Hata K., Takashima R., Ono K., Nakamura E., Takahata Y., Murakami T., Iseki S., Takano-Yamamoto T., Nishimura R., Yoneda T.
    Nat. Commun. 6:6653-6653(2015) [PubMed] [Europe PMC] [Abstract]

    Cited for: INTERACTION WITH FOXC1.
• transcription regulatory region sequence-specific DNA binding Source: MGIInferred from direct assayⁱ
  • "Progenitor cell proliferation in the retina is dependent on Notch-independent Sonic hedgehog/Hes1 activity."
    Wall D.S., Mears A.J., McNeill B., Mazerolle C., Thurig S., Wang Y., Kageyama R., Wallace V.A.
    J Cell Biol 184:101-112(2009) [PubMed] [Europe PMC] [Abstract]
• zinc ion binding Source: MGI

GO - Biological processⁱ

• anatomical structure development Source: MGI <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypeⁱ
  • "Anorectal malformations caused by defects in sonic hedgehog signaling."
    Mo R., Kim J.H., Zhang J., Chiang C., Hui C.C., Kim P.C.
    Am J Pathol 159:765-774(2001) [PubMed] [Europe PMC] [Abstract]
• anatomical structure formation involved in morphogenesis Source: MGI <p>Inferred from Genetic Interaction</p> <p>Used to describe "traditional" genetic interactions such as suppressors and synthetic lethals as well as other techniques such as functional complementation, rescue experiments, or inferences about a gene drawn from the phenotype of a mutation in a different gene.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#igi">GO evidence code guide</a></p> Inferred from genetic interactionⁱ
  • "Essential function of Gli2 and Gli3 in the formation of lung, trachea and oesophagus."
    Motoyama J., Liu J., Mo R., Ding Q., Post M., Hui C.C.
    Nat Genet 20:54-57(1998) [PubMed] [Europe PMC] [Abstract]
• anterior/posterior pattern specification Source: MGIInferred from genetic interactionⁱ
  • "Limb anterior-posterior polarity integrates activator and repressor functions of GLI2 as well as GLI3."
    Bowers M., Eng L., Lao Z., Turnbull R.K., Bao X., Riedel E., Mackem S., Joyner A.L.
    Dev Biol 370:110-124(2012) [PubMed] [Europe PMC] [Abstract]
• axon guidance Source: MGIInferred from mutant phenotypeⁱ
  • "Ventral midline cells are required for the local control of commissural axon guidance in the mouse spinal cord."
    Matise M.P., Lustig M., Sakurai T., Grumet M., Joyner A.L.
    Development 126:3649-3659(1999) [PubMed] [Europe PMC] [Abstract]
• branching morphogenesis of an epithelial tube Source: MGIInferred from mutant phenotypeⁱ
  • "Essential function of Gli2 and Gli3 in the formation of lung, trachea and oesophagus."
    Motoyama J., Liu J., Mo R., Ding Q., Post M., Hui C.C.
    Nat Genet 20:54-57(1998) [PubMed] [Europe PMC] [Abstract]
• cell differentiation Source: MGIInferred from mutant phenotypeⁱ
  • "Diminished Sonic hedgehog signaling and lack of floor plate differentiation in Gli2 mutant mice."
    Ding Q., Motoyama J., Gasca S., Mo R., Sasaki H., Rossant J., Hui C.C.
    Development 125:2533-2543(1998) [PubMed] [Europe PMC] [Abstract]
  • "Gli2 is required for induction of floor plate and adjacent cells, but not most ventral neurons in the mouse central nervous system."
    Matise M.P., Epstein D.J., Park H.L., Platt K.A., Joyner A.L.
    Development 125:2759-2770(1998) [PubMed] [Europe PMC] [Abstract]
• cellular response to organic cyclic compound Source: MGIInferred from direct assayⁱ
  • "Inhibition of microtubule assembly in osteoblasts stimulates bone morphogenetic protein 2 expression and bone formation through transcription factor Gli2."
    Zhao M., Ko S.Y., Liu J.H., Chen D., Zhang J., Wang B., Harris S.E., Oyajobi B.O., Mundy G.R.
    Mol Cell Biol 29:1291-1305(2009) [PubMed] [Europe PMC] [Abstract]
• cellular response to virus Source: MGI
• cerebellar cortex morphogenesis Source: MGIInferred from mutant phenotypeⁱ
  • "The level of sonic hedgehog signaling regulates the complexity of cerebellar foliation."
    Corrales J.D., Blaess S., Mahoney E.M., Joyner A.L.
    Development 133:1811-1821(2006) [PubMed] [Europe PMC] [Abstract]
• chondrocyte differentiation Source: MGIInferred from genetic interactionⁱ
  • "IFT80 is essential for chondrocyte differentiation by regulating Hedgehog and Wnt signaling pathways."
    Wang C., Yuan X., Yang S.
    Exp Cell Res 319:623-632(2013) [PubMed] [Europe PMC] [Abstract]
• cochlea morphogenesis Source: MGIInferred from mutant phenotypeⁱ
  • "Opposing gradients of Gli repressor and activators mediate Shh signaling along the dorsoventral axis of the inner ear."
    Bok J., Dolson D.K., Hill P., Ruther U., Epstein D.J., Wu D.K.
    Development 134:1713-1722(2007) [PubMed] [Europe PMC] [Abstract]
• developmental growth Source: MGIInferred from mutant phenotypeⁱ
  • "Sonic hedgehog regulates Gli activator and repressor functions with spatial and temporal precision in the mid/hindbrain region."
    Blaess S., Corrales J.D., Joyner A.L.
    Development 133:1799-1809(2006) [PubMed] [Europe PMC] [Abstract]
• dorsal/ventral neural tube patterning Source: MGIInferred from direct assayⁱ
  • "Control of cell pattern in the neural tube by the zinc finger transcription factor and oncogene Gli-1."
    Hynes M., Stone D.M., Dowd M., Pitts-Meek S., Goddard A., Gurney A., Rosenthal A.
    Neuron 19:15-26(1997) [PubMed] [Europe PMC] [Abstract]
• dorsal/ventral pattern formation Source: MGIInferred from genetic interactionⁱ
  • "Complementary Gli activity mediates early patterning of the mouse visual system."
    Furimsky M., Wallace V.A.
    Dev Dyn 235:594-605(2006) [PubMed] [Europe PMC] [Abstract]
• embryonic digestive tract development Source: MGIInferred from mutant phenotypeⁱ
  • "New mouse models of congenital anorectal malformations."
    Kimmel S.G., Mo R., Hui C.C., Kim P.C.
    J Pediatr Surg 35:227-230(2000) [PubMed] [Europe PMC] [Abstract]
• embryonic digit morphogenesis Source: MGIInferred from mutant phenotypeⁱ
  • "Phosphorylation of Gli2 by protein kinase A is required for Gli2 processing and degradation and the Sonic Hedgehog-regulated mouse development."
    Pan Y., Wang C., Wang B.
    Dev Biol 326:177-189(2009) [PubMed] [Europe PMC] [Abstract]
• epidermal cell differentiation Source: MGI
• floor plate formation Source: MGIInferred from mutant phenotypeⁱ
  • "Diminished Sonic hedgehog signaling and lack of floor plate differentiation in Gli2 mutant mice."
    Ding Q., Motoyama J., Gasca S., Mo R., Sasaki H., Rossant J., Hui C.C.
    Development 125:2533-2543(1998) [PubMed] [Europe PMC] [Abstract]
  • "Gli2 is required for induction of floor plate and adjacent cells, but not most ventral neurons in the mouse central nervous system."
    Matise M.P., Epstein D.J., Park H.L., Platt K.A., Joyner A.L.
    Development 125:2759-2770(1998) [PubMed] [Europe PMC] [Abstract]
• hair follicle morphogenesis Source: MGI
• head development Source: MGIInferred from mutant phenotypeⁱ
  • "Phosphorylation of Gli2 by protein kinase A is required for Gli2 processing and degradation and the Sonic Hedgehog-regulated mouse development."
    Pan Y., Wang C., Wang B.
    Dev Biol 326:177-189(2009) [PubMed] [Europe PMC] [Abstract]
• heart development Source: MGIInferred from genetic interactionⁱ
  • "Murine models of VACTERL syndrome: Role of sonic hedgehog signaling pathway."
    Kim P.C., Mo R., Hui Cc C.
    J Pediatr Surg 36:381-384(2001) [PubMed] [Europe PMC] [Abstract]
• hindbrain development Source: MGIInferred from mutant phenotypeⁱ
  • "Spatial pattern of sonic hedgehog signaling through Gli genes during cerebellum development."
    Corrales J.D., Rocco G.L., Blaess S., Guo Q., Joyner A.L.
    Development 131:5581-5590(2004) [PubMed] [Europe PMC] [Abstract]
  • "A role for En-2 and other murine homologues of Drosophila segment polarity genes in regulating positional information in the developing cerebellum."
    Millen K.J., Hui C.C., Joyner A.L.
    Development 121:3935-3945(1995) [PubMed] [Europe PMC] [Abstract]
• hindgut morphogenesis Source: MGIInferred from mutant phenotypeⁱ
  • "Anorectal malformations caused by defects in sonic hedgehog signaling."
    Mo R., Kim J.H., Zhang J., Chiang C., Hui C.C., Kim P.C.
    Am J Pathol 159:765-774(2001) [PubMed] [Europe PMC] [Abstract]
• in utero embryonic development Source: MGIInferred from mutant phenotypeⁱ
  • "Phosphorylation of Gli2 by protein kinase A is required for Gli2 processing and degradation and the Sonic Hedgehog-regulated mouse development."
    Pan Y., Wang C., Wang B.
    Dev Biol 326:177-189(2009) [PubMed] [Europe PMC] [Abstract]
• kidney development Source: MGIInferred from genetic interactionⁱ
  • "Murine models of VACTERL syndrome: Role of sonic hedgehog signaling pathway."
    Kim P.C., Mo R., Hui Cc C.
    J Pediatr Surg 36:381-384(2001) [PubMed] [Europe PMC] [Abstract]
• lung development Source: MGIInferred from mutant phenotypeⁱ
  • "Essential function of Gli2 and Gli3 in the formation of lung, trachea and oesophagus."
    Motoyama J., Liu J., Mo R., Ding Q., Post M., Hui C.C.
    Nat Genet 20:54-57(1998) [PubMed] [Europe PMC] [Abstract]
• mammary gland development Source: MGIInferred from mutant phenotypeⁱ
  • "The Gli2 transcription factor is required for normal mouse mammary gland development."
    Lewis M.T., Ross S., Strickland P.A., Sugnet C.W., Jimenez E., Hui C., Daniel C.W.
    Dev Biol 238:133-144(2001) [PubMed] [Europe PMC] [Abstract]
• mammary gland duct morphogenesis Source: MGIInferred from mutant phenotypeⁱ
  • "The Gli2 transcription factor is required for normal mouse mammary gland development."
    Lewis M.T., Ross S., Strickland P.A., Sugnet C.W., Jimenez E., Hui C., Daniel C.W.
    Dev Biol 238:133-144(2001) [PubMed] [Europe PMC] [Abstract]
• morphogenesis of an epithelium Source: MGIInferred from mutant phenotypeⁱ
  • "Functional compensation in Hedgehog signaling during mouse prostate development."
    Doles J., Cook C., Shi X., Valosky J., Lipinski R., Bushman W.
    Dev Biol 295:13-25(2006) [PubMed] [Europe PMC] [Abstract]
• negative regulation of apoptotic process Source: MGIInferred from direct assayⁱ
  • "Phosphorylation of Gli2 by protein kinase A is required for Gli2 processing and degradation and the Sonic Hedgehog-regulated mouse development."
    Pan Y., Wang C., Wang B.
    Dev Biol 326:177-189(2009) [PubMed] [Europe PMC] [Abstract]
• negative regulation of chondrocyte differentiation Source: MGIInferred from mutant phenotypeⁱ
  • "PTHrP regulates growth plate chondrocyte differentiation and proliferation in a Gli3 dependent manner utilizing hedgehog ligand dependent and independent mechanisms."
    Mau E., Whetstone H., Yu C., Hopyan S., Wunder J.S., Alman B.A.
    Dev Biol 305:28-39(2007) [PubMed] [Europe PMC] [Abstract]
• negative regulation of smoothened signaling pathway Source: MGIInferred from genetic interactionⁱ
  • "Proper ciliary assembly is critical for restricting Hedgehog signaling during early eye development in mice."
    Burnett J.B., Lupu F.I., Eggenschwiler J.T.
    Dev Biol 430:32-40(2017) [PubMed] [Europe PMC] [Abstract]
• negative regulation of transcription by RNA polymerase II Source: MGIInferred from genetic interactionⁱ
  • "Sonic hedgehog signaling regulates Gli2 transcriptional activity by suppressing its processing and degradation."
    Pan Y., Bai C.B., Joyner A.L., Wang B.
    Mol Cell Biol 26:3365-3377(2006) [PubMed] [Europe PMC] [Abstract]
• neural tube development Source: MGIInferred from mutant phenotypeⁱ
  • "Phosphorylation of Gli2 by protein kinase A is required for Gli2 processing and degradation and the Sonic Hedgehog-regulated mouse development."
    Pan Y., Wang C., Wang B.
    Dev Biol 326:177-189(2009) [PubMed] [Europe PMC] [Abstract]
• neuron development Source: MGIInferred from mutant phenotypeⁱ
  • "Molecular control of spinal accessory motor neuron/axon development in the mouse spinal cord."
    Dillon A.K., Fujita S.C., Matise M.P., Jarjour A.A., Kennedy T.E., Kollmus H., Arnold H.H., Weiner J.A., Sanes J.R., Kaprielian Z.
    J Neurosci 25:10119-10130(2005) [PubMed] [Europe PMC] [Abstract]
• notochord regression Source: MGIInferred from genetic interactionⁱ
  • "Mouse Gli1 mutants are viable but have defects in SHH signaling in combination with a Gli2 mutation."
    Park H.L., Bai C., Platt K.A., Matise M.P., Beeghly A., Hui C.C., Nakashima M., Joyner A.L.
    Development 127:1593-1605(2000) [PubMed] [Europe PMC] [Abstract]
• odontogenesis of dentin-containing tooth Source: MGIInferred from mutant phenotypeⁱ
  • "The Shh signalling pathway in tooth development: defects in Gli2 and Gli3 mutants."
    Hardcastle Z., Mo R., Hui C.C., Sharpe P.T.
    Development 125:2803-2811(1998) [PubMed] [Europe PMC] [Abstract]
• osteoblast development Source: MGIInferred from direct assayⁱ
  • "The zinc finger transcription factor Gli2 mediates bone morphogenetic protein 2 expression in osteoblasts in response to hedgehog signaling."
    Zhao M., Qiao M., Harris S.E., Chen D., Oyajobi B.O., Mundy G.R.
    Mol Cell Biol 26:6197-6208(2006) [PubMed] [Europe PMC] [Abstract]
• osteoblast differentiation Source: MGIInferred from genetic interactionⁱ
  • "The intraflagellar transport protein IFT80 is required for cilia formation and osteogenesis."
    Yang S., Wang C.
    Bone 51:407-417(2012) [PubMed] [Europe PMC] [Abstract]
• pattern specification process Source: MGIInferred from mutant phenotypeⁱ
  • "A role for En-2 and other murine homologues of Drosophila segment polarity genes in regulating positional information in the developing cerebellum."
    Millen K.J., Hui C.C., Joyner A.L.
    Development 121:3935-3945(1995) [PubMed] [Europe PMC] [Abstract]
• pituitary gland development Source: MGIInferred from genetic interactionⁱ
  • "Mouse Gli1 mutants are viable but have defects in SHH signaling in combination with a Gli2 mutation."
    Park H.L., Bai C., Platt K.A., Matise M.P., Beeghly A., Hui C.C., Nakashima M., Joyner A.L.
    Development 127:1593-1605(2000) [PubMed] [Europe PMC] [Abstract]
• positive regulation of cell population proliferation Source: MGIInferred from mutant phenotypeⁱ
  • "Spatial pattern of sonic hedgehog signaling through Gli genes during cerebellum development."
    Corrales J.D., Rocco G.L., Blaess S., Guo Q., Joyner A.L.
    Development 131:5581-5590(2004) [PubMed] [Europe PMC] [Abstract]
  • "Essential function of Gli2 and Gli3 in the formation of lung, trachea and oesophagus."
    Motoyama J., Liu J., Mo R., Ding Q., Post M., Hui C.C.
    Nat Genet 20:54-57(1998) [PubMed] [Europe PMC] [Abstract]
• positive regulation of DNA replication Source: MGI
• positive regulation of neuron differentiation Source: MGIInferred from genetic interactionⁱ
  • "Wnt signaling inhibitors regulate the transcriptional response to morphogenetic Shh-Gli signaling in the neural tube."
    Lei Q., Jeong Y., Misra K., Li S., Zelman A.K., Epstein D.J., Matise M.P.
    Dev Cell 11:325-337(2006) [PubMed] [Europe PMC] [Abstract]
• positive regulation of transcription, DNA-templated Source: MGIInferred from direct assayⁱ
  • "Expression of the mouse Fgf15 gene is directly initiated by Sonic hedgehog signaling in the diencephalon and midbrain."
    Saitsu H., Komada M., Suzuki M., Nakayama R., Motoyama J., Shiota K., Ishibashi M.
    Dev Dyn 232:282-292(2005) [PubMed] [Europe PMC] [Abstract]
  • "PTHrP regulates growth plate chondrocyte differentiation and proliferation in a Gli3 dependent manner utilizing hedgehog ligand dependent and independent mechanisms."
    Mau E., Whetstone H., Yu C., Hopyan S., Wunder J.S., Alman B.A.
    Dev Biol 305:28-39(2007) [PubMed] [Europe PMC] [Abstract]
• positive regulation of transcription by RNA polymerase II Source: NTNU_SBInferred from direct assayⁱ
  • "The zinc finger transcription factor Gli2 mediates bone morphogenetic protein 2 expression in osteoblasts in response to hedgehog signaling."
    Zhao M., Qiao M., Harris S.E., Chen D., Oyajobi B.O., Mundy G.R.
    Mol Cell Biol 26:6197-6208(2006) [PubMed] [Europe PMC] [Abstract]
• prostatic bud formation Source: MGIInferred from mutant phenotypeⁱ
  • "Functional compensation in Hedgehog signaling during mouse prostate development."
    Doles J., Cook C., Shi X., Valosky J., Lipinski R., Bushman W.
    Dev Biol 295:13-25(2006) [PubMed] [Europe PMC] [Abstract]
• proximal/distal pattern formation Source: MGIInferred from genetic interactionⁱ
  • "Complementary Gli activity mediates early patterning of the mouse visual system."
    Furimsky M., Wallace V.A.
    Dev Dyn 235:594-605(2006) [PubMed] [Europe PMC] [Abstract]
• regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning Source: MGIInferred from genetic interactionⁱ
  • "Cell Cycle-Related Kinase (CCRK) regulates ciliogenesis and Hedgehog signaling in mice."
    Snouffer A., Brown D., Lee H., Walsh J., Lupu F., Norman R., Lechtreck K., Ko H.W., Eggenschwiler J.
    PLoS Genet 13:e1006912-e1006912(2017) [PubMed] [Europe PMC] [Abstract]
• regulation of transcription by RNA polymerase II Source: GO_CentralInferred from biological aspect of ancestorⁱ
  • "Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium."
    Gaudet P., Livstone M.S., Lewis S.E., Thomas P.D.
    Brief Bioinform 12:449-462(2011) [PubMed] [Europe PMC] [Abstract]
• skeletal system development Source: MGIInferred from mutant phenotypeⁱ
  • Ref.3

    "Specific and redundant functions of Gli2 and Gli3 zinc finger genes in skeletal patterning and development."
    Mo R., Freer A.M., Zinyk D.L., Crackower M.A., Michaud J., Heng H.H., Chik K.W., Shi X.M., Tsui L.C., Cheng S.H., Joyner A.L., Hui C.
    Development 124:113-123(1997) [PubMed] [Europe PMC] [Abstract]

    Cited for: DISRUPTION PHENOTYPE, FUNCTION.
• smoothened signaling pathway Source: MGIInferred from mutant phenotypeⁱ
  • "Phosphorylation of Gli2 by protein kinase A is required for Gli2 processing and degradation and the Sonic Hedgehog-regulated mouse development."
    Pan Y., Wang C., Wang B.
    Dev Biol 326:177-189(2009) [PubMed] [Europe PMC] [Abstract]
  • "Progenitor cell proliferation in the retina is dependent on Notch-independent Sonic hedgehog/Hes1 activity."
    Wall D.S., Mears A.J., McNeill B., Mazerolle C., Thurig S., Wang Y., Kageyama R., Wallace V.A.
    J Cell Biol 184:101-112(2009) [PubMed] [Europe PMC] [Abstract]
• smoothened signaling pathway involved in dorsal/ventral neural tube patterning Source: MGIInferred from genetic interactionⁱ
  • "Opposing gradients of Gli repressor and activators mediate Shh signaling along the dorsoventral axis of the inner ear."
    Bok J., Dolson D.K., Hill P., Ruther U., Epstein D.J., Wu D.K.
    Development 134:1713-1722(2007) [PubMed] [Europe PMC] [Abstract]
  • "Broad-minded links cell cycle-related kinase to cilia assembly and hedgehog signal transduction."
    Ko H.W., Norman R.X., Tran J., Fuller K.P., Fukuda M., Eggenschwiler J.T.
    Dev. Cell 18:237-247(2010) [PubMed] [Europe PMC] [Abstract]
• smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation Source: MGIInferred from mutant phenotypeⁱ
  • "The level of sonic hedgehog signaling regulates the complexity of cerebellar foliation."
    Corrales J.D., Blaess S., Mahoney E.M., Joyner A.L.
    Development 133:1811-1821(2006) [PubMed] [Europe PMC] [Abstract]
• smoothened signaling pathway involved in spinal cord motor neuron cell fate specification Source: MGIInferred from genetic interactionⁱ
  • "Transduction of graded Hedgehog signaling by a combination of Gli2 and Gli3 activator functions in the developing spinal cord."
    Lei Q., Zelman A.K., Kuang E., Li S., Matise M.P.
    Development 131:3593-3604(2004) [PubMed] [Europe PMC] [Abstract]
• smoothened signaling pathway involved in ventral spinal cord interneuron specification Source: MGIInferred from genetic interactionⁱ
  • "Transduction of graded Hedgehog signaling by a combination of Gli2 and Gli3 activator functions in the developing spinal cord."
    Lei Q., Zelman A.K., Kuang E., Li S., Matise M.P.
    Development 131:3593-3604(2004) [PubMed] [Europe PMC] [Abstract]
• spinal cord dorsal/ventral patterning Source: MGIInferred from mutant phenotypeⁱ
  • "Gli1 can rescue the in vivo function of Gli2."
    Bai C.B., Joyner A.L.
    Development 128:5161-5172(2001) [PubMed] [Europe PMC] [Abstract]
  • "Mouse Rab23 regulates hedgehog signaling from smoothened to Gli proteins."
    Eggenschwiler J.T., Bulgakov O.V., Qin J., Li T., Anderson K.V.
    Dev. Biol. 290:1-12(2006) [PubMed] [Europe PMC] [Abstract]
• spinal cord motor neuron differentiation Source: MGIInferred from mutant phenotypeⁱ
  • "Complex interactions between genes controlling trafficking in primary cilia."
    Ocbina P.J., Eggenschwiler J.T., Moskowitz I., Anderson K.V.
    Nat Genet 43:547-553(2011) [PubMed] [Europe PMC] [Abstract]
• spinal cord ventral commissure morphogenesis Source: MGIInferred from mutant phenotypeⁱ
  • "Ventral midline cells are required for the local control of commissural axon guidance in the mouse spinal cord."
    Matise M.P., Lustig M., Sakurai T., Grumet M., Joyner A.L.
    Development 126:3649-3659(1999) [PubMed] [Europe PMC] [Abstract]
• tube development Source: MGIInferred from genetic interactionⁱ
  • "Essential function of Gli2 and Gli3 in the formation of lung, trachea and oesophagus."
    Motoyama J., Liu J., Mo R., Ding Q., Post M., Hui C.C.
    Nat Genet 20:54-57(1998) [PubMed] [Europe PMC] [Abstract]
• ventral midline development Source: MGIInferred from mutant phenotypeⁱ
  • "Mouse Gli1 mutants are viable but have defects in SHH signaling in combination with a Gli2 mutation."
    Park H.L., Bai C., Platt K.A., Matise M.P., Beeghly A., Hui C.C., Nakashima M., Joyner A.L.
    Development 127:1593-1605(2000) [PubMed] [Europe PMC] [Abstract]
• ventral spinal cord development Source: MGIInferred from mutant phenotypeⁱ
  • "Gli1 can rescue the in vivo function of Gli2."
    Bai C.B., Joyner A.L.
    Development 128:5161-5172(2001) [PubMed] [Europe PMC] [Abstract]

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsⁱ

Enzyme and pathway databases

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyⁱ

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationⁱ

• UniProt annotation
• GO - Cellular component

Keywords - Cellular componentⁱ

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechⁱ

<p>This subsection of the 'Pathology and Biotech' section describes the in vivo effects caused by ablation of the gene (or one or more transcripts) coding for the protein described in the entry. This includes gene knockout and knockdown, provided experiments have been performed in the context of a whole organism or a specific tissue, and not at the single-cell level.<p><a href='/help/disruption_phenotype' target='_top'>More...</a></p>Disruption phenotypeⁱ

Chemistry databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingⁱ

Molecule processing

Amino acid modifications

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationⁱ

Keywords - PTMⁱ

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressionⁱ

Gene expression databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactionⁱ

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structureⁱ

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsⁱ

GO - Molecular functionⁱ

• transcription factor binding Source: UniProtKBInferred from physical interactionⁱ
  • Ref.11

    "The transcription factor Foxc1 is necessary for Ihh-Gli2-regulated endochondral ossification."
    Yoshida M., Hata K., Takashima R., Ono K., Nakamura E., Takahata Y., Murakami T., Iseki S., Takano-Yamamoto T., Nishimura R., Yoneda T.
    Nat. Commun. 6:6653-6653(2015) [PubMed] [Europe PMC] [Abstract]

    Cited for: INTERACTION WITH FOXC1.

Protein-protein interaction databases

Chemistry databases

Miscellaneous databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structureⁱ

3D structure databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsⁱ

Region

Compositional bias

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domainⁱ

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesⁱ

Zinc finger

Keywords - Domainⁱ

Phylogenomic databases

Family and domain databases

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)ⁱ

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusⁱ: Complete.

This entry has 1 described isoform and 6 potential isoforms that are computationally mapped.Show allAlign All

        10         20         30         40         50
METSAPAPAL EKKEAKSGLL EDSSFPDPGK KACPLAVAAA VAAHGVPQQL 
        60         70         80         90        100
LPAFHAPLPI DMRHQEGRYH YDPHSVHSVH GPPTLSGSPV ISDISLIRLS 
       110        120        130        140        150
PHPAGPGESP FSAHHPYVNP HMEHYLRSVH SSPTLSMISA ARGLSPADVA 
       160        170        180        190        200
HEHLKERGLF SLAAPGTNPS DYYHQMTLMA SHPTPYGDLL MQSGGAASAP 
       210        220        230        240        250
HLHDYLNPVD ASRFSSPRVT PRLSRKRALS ISPLSDASLD LQRMIRTSPN 
       260        270        280        290        300
SLVAYINNSR SSSAASGSYG HLSAGALSPA FTFPHPINPV AYQQILSQQR 
       310        320        330        340        350
GLGSAFGHTP PLIQPSPTFL AQQPMTLTSI STMPTQLSSS SSNCLNDANQ 
       360        370        380        390        400
NKQNSESAVS STVNPITIHK RSKVKTEAEG LRPASPLGLT QEQLADLKED 
       410        420        430        440        450
LDRDDCKQEA EVVIYETNCH WADCTKEYDT QEQLVHHINN EHIHGEKKEF 
       460        470        480        490        500
VCRWQACTRE QKPFKAQYML VVHMRRHTGE KPHKCTFEGC SKAYSRLENL 
       510        520        530        540        550
KTHLRSHTGE KPYVCEHEGC NKAFSNASDR AKHQNRTHSN EKPYICKIPG 
       560        570        580        590        600
CTKRYTDPSS LRKHVKTVHG PDAHVTKKQR NDVHVRAPLL KENGDNEASA 
       610        620        630        640        650
EPGGRGPEES VEASSTSHTV EDCLHIKAIK TESSGLCQSS PGAQSSCSSE 
       660        670        680        690        700
PSPLGSAPNN DSGMEMPGTG PGSLGDLTAL ADTCPGADTS ALAAPSTGGL 
       710        720        730        740        750
QLRKHMSTVH RFEQLKREKL KSLKDSCSWA GPAPHTRNTK LPPLPVNGSV 
       760        770        780        790        800
LENFNNTGGG GPAGLLPSQR LPELTEVTML SQLQERRDSS TSTMSSAYTV 
       810        820        830        840        850
SRRSSGISPY FSSRRSSEAS PLGGLRPHNA SSADSYDPIS TDASRRSSEA 
       860        870        880        890        900
SQCSGGGPGL LNLTPAQQYN LRAKYAAATG GPPPTPLPGL DRVSLRTRLA 
       910        920        930        940        950
LLDAPERALP GACPHPLGPR RGSDGPTYSH GHGHGYAGAA PAFPHEGPNS 
       960        970        980        990       1000
STRRASDPVR RPDPLILPRV QRFHSTHNMN PGSLPPCADR RGLHVQSHPS 
      1010       1020       1030       1040       1050
VDSNLTRNAY SPRPPSINEN VVMEAVAAGV DGPGLECDLG LVEDELVLPD 
      1060       1070       1080       1090       1100
DVVQYIKAHT GGTLDDGIRQ GYPTEGTGFP ENSKLPSPGL QGHRRLAAAD 
      1110       1120       1130       1140       1150
SNMGPSAPGL GGCQLSYSPS SNLNKSNMPV QWNEVSSGTV DALPTQVKPP 
      1160       1170       1180       1190       1200
PFPHSNLAVV QQKPAFGQYP GYNPQSVQSS SGGLDSTQPH LQLRGAPSAS 
      1210       1220       1230       1240       1250
RGSYTQQPRQ PAAGSQCLGM SAAMSPQASY SQAHPQLSPN IVSGSLNQFS 
      1260       1270       1280       1290       1300
PSCSNMAAKP SHLGLPQQME VVPNATIMNG HQREHGVPNS SLAAVSQPHP 
      1310       1320       1330       1340       1350
VLSYPQQDSY QQGSNLLSSH QPGFMESQQN AGFGLMQPRP PLEPNTASRH 
      1360       1370       1380       1390       1400
RGVRSGQQQL YARTTGQAMV TSANQETAEA MPKGPAGTMV SLAPQPSQDT 
      1410       1420       1430       1440       1450
GRAQDQNTLY YYGQIHMYEQ NGGCPAVQPQ PPQPQACSDS IQPEPLPSPG 
      1460       1470       1480       1490       1500
VNQVSSTVDS QLLEPPQIDF DAIMDDGDHS SLFSGALSPT LLHNLSQNSS 
      1510       1520       1530       1540 
RLTTPRNSLT LPSIPAGISN MAVGDMSSML TSLAEESKFL NMMT       

Experimental Info

Sequence databases

Genome annotation databases

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsⁱ

• 90% Identity
• 50% Identity

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesⁱ

Sequence databases

3D structure databases

Protein-protein interaction databases

Chemistry databases

PTM databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationⁱ

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousⁱ

Keywords - Technical termⁱ

Documents

1. MGD cross-references
   Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
2. SIMILARITY comments
   Index of protein domains and families