Entity Details

Primary name GLI2_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP10070
EntryNameGLI2_HUMAN
FullNameZinc finger protein GLI2
TaxID9606
Evidenceevidence at protein level
Length1586
SequenceStatuscomplete
DateCreated1989-07-01
DateModified2021-06-02

Ontological Relatives

GenesGLI2

GO terms

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GOName
GO:0000122 negative regulation of transcription by RNA polymerase II
GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific
GO:0001501 skeletal system development
GO:0001649 osteoblast differentiation
GO:0001701 in utero embryonic development
GO:0001822 kidney development
GO:0002062 chondrocyte differentiation
GO:0002076 osteoblast development
GO:0003700 DNA-binding transcription factor activity
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005730 nucleolus
GO:0005829 cytosol
GO:0005929 cilium
GO:0005930 axoneme
GO:0006357 regulation of transcription by RNA polymerase II
GO:0007224 smoothened signaling pathway
GO:0007389 pattern specification process
GO:0007411 axon guidance
GO:0007418 ventral midline development
GO:0007442 hindgut morphogenesis
GO:0007507 heart development
GO:0008134 transcription factor binding
GO:0008270 zinc ion binding
GO:0009913 epidermal cell differentiation
GO:0009952 anterior/posterior pattern specification
GO:0009954 proximal/distal pattern formation
GO:0016020 membrane
GO:0016607 nuclear speck
GO:0021508 floor plate formation
GO:0021513 spinal cord dorsal/ventral patterning
GO:0021517 ventral spinal cord development
GO:0021696 cerebellar cortex morphogenesis
GO:0021775 smoothened signaling pathway involved in ventral spinal cord interneuron specification
GO:0021776 smoothened signaling pathway involved in spinal cord motor neuron cell fate specification
GO:0021938 smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation
GO:0021965 spinal cord ventral commissure morphogenesis
GO:0021983 pituitary gland development
GO:0030324 lung development
GO:0030879 mammary gland development
GO:0030902 hindbrain development
GO:0031069 hair follicle morphogenesis
GO:0031514 motile cilium
GO:0032331 negative regulation of chondrocyte differentiation
GO:0033089 positive regulation of T cell differentiation in thymus
GO:0035295 tube development
GO:0042475 odontogenesis of dentin-containing tooth
GO:0042733 embryonic digit morphogenesis
GO:0043066 negative regulation of apoptotic process
GO:0043565 sequence-specific DNA binding
GO:0045666 positive regulation of neuron differentiation
GO:0045740 positive regulation of DNA replication
GO:0045879 negative regulation of smoothened signaling pathway
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription by RNA polymerase II
GO:0048566 embryonic digestive tract development
GO:0048589 developmental growth
GO:0048666 neuron development
GO:0048754 branching morphogenesis of an epithelial tube
GO:0060032 notochord regression
GO:0060513 prostatic bud formation
GO:0060603 mammary gland duct morphogenesis
GO:0060831 smoothened signaling pathway involved in dorsal/ventral neural tube patterning
GO:0071407 cellular response to organic cyclic compound
GO:0090103 cochlea morphogenesis
GO:0097542 ciliary tip
GO:0097546 ciliary base
GO:0098586 cellular response to virus
GO:1901620 regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning
GO:1990837 sequence-specific double-stranded DNA binding
GO:1990841 promoter-specific chromatin binding

Subcellular Location

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Subcellular Location
Cell projection
Cytoplasm
Nucleus

Domains

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DomainNameCategoryType
IPR013087 Zinc finger C2H2-typeDomainDomain
IPR036236 Zinc finger C2H2 superfamilyFamilyHomologous superfamily
IPR043359 C2H2-type zinc-finger protein GLI-likeFamilyFamily

Diseases

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Disease IDSourceNameDescription
610829 OMIMHoloprosencephaly 9 (HPE9)A structural anomaly of the brain, in which the developing forebrain fails to correctly separate into right and left hemispheres. Holoprosencephaly is genetically heterogeneous and associated with several distinct facies and phenotypic variability. Holoprosencephaly type 9 is characterized by defective anterior pituitary formation and pan-hypopituitarism, with or without overt forebrain cleavage abnormalities, and holoprosencephaly-like midfacial hypoplasia. The disease is caused by variants affecting the gene represented in this entry.
615849 OMIMCuller-Jones syndrome (CJS)An autosomal dominant disorder characterized by a wide range of clinical manifestations. Clinical features include hypothalamic hamartoma, pituitary dysfunction, central or postaxial polydactyly, and syndactyly. Malformations are frequent in the viscera, e.g. anal atresia, bifid uvula, congenital heart malformations, pulmonary or renal dysplasia. The disease is caused by variants affecting the gene represented in this entry.