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Gli3 GLI-Kruppel family member GLI3 [ Mus musculus (house mouse) ]

Gene ID: 14634, updated on 21-Apr-2024

Summary

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Official Symbol: Gli3provided by MGI
Official Full Name: GLI-Kruppel family member GLI3provided by MGI
Primary source: MGI:MGI:95729
See related: Ensembl:ENSMUSG00000021318 AllianceGenome:MGI:95729
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Xt; Bph; Pdn; add; GLI3FL; GLI3-190
Summary: Enables DNA-binding transcription factor activity; chromatin binding activity; and sequence-specific DNA binding activity. Involved in several processes, including negative thymic T cell selection; regulation of alpha-beta T cell differentiation; and thymocyte apoptotic process. Acts upstream of or within several processes, including animal organ development; nervous system development; and positive regulation of cell differentiation. Located in axoneme and nuclear speck. Part of transcription repressor complex. Is expressed in several structures, including alimentary system; brain; embryo mesenchyme; genitourinary system; and sensory organ. Used to study Greig cephalopolysyndactyly syndrome and Pallister-Hall syndrome. Human ortholog(s) of this gene implicated in Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome; anodontia; polydactyly; and syndactyly. Orthologous to human GLI3 (GLI family zinc finger 3). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in limb E14.5 (RPKM 12.4), CNS E11.5 (RPKM 9.9) and 14 other tissues See more
Orthologs: human all
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Genomic context

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Location:: 13 A1; 13 5.43 cM

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	13	NC_000079.7 (15638308..15904611)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	13	NC_000079.6 (15463723..15730026)

Chromosome 13 - NC_000079.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A study on etiology of incontinence in double knockout mouse model.
Title: A study on etiology of incontinence in double knockout mouse model.
A novel mechanism of regulation of the oncogenic transcription factor GLI3 by toll-like receptor signaling.
Title: A novel mechanism of regulation of the oncogenic transcription factor GLI3 by toll-like receptor signaling.
The epigenetic state of EED-Gli3-Gli1 regulatory axis controls embryonic cortical neurogenesis.
Title: The epigenetic state of EED-Gli3-Gli1 regulatory axis controls embryonic cortical neurogenesis.
Two nonsense GLI3 variants are associated with polydactyly and syndactyly in two families by affecting the sonic hedgehog signaling pathway.
Title: Two nonsense GLI3 variants are associated with polydactyly and syndactyly in two families by affecting the sonic hedgehog signaling pathway.
Molecular Etiology in Thumb Polydactyly in Mutated GLI3 Mouse Gene.
Title: Molecular Etiology in Thumb Polydactyly in Mutated GLI3 Mouse Gene.
GLI3 Is Required for OLIG2+ Progeny Production in Adult Dorsal Neural Stem Cells.
Title: GLI3 Is Required for OLIG2+ Progeny Production in Adult Dorsal Neural Stem Cells.
HES1 is a novel downstream modifier of the SHH-GLI3 Axis in the development of preaxial polydactyly.
Title: HES1 is a novel downstream modifier of the SHH-GLI3 Axis in the development of preaxial polydactyly.
The Shh/Gli3 gene regulatory network precedes the origin of paired fins and reveals the deep homology between distal fins and digits.
Title: The Shh/Gli3 gene regulatory network precedes the origin of paired fins and reveals the deep homology between distal fins and digits.
GLI3: a mediator of genetic diseases, development and cancer.
Title: GLI3: a mediator of genetic diseases, development and cancer.
Gli3 is a Key Factor in the Schwann Cells from Both Intact and Injured Peripheral Nerves.
Title: Gli3 is a Key Factor in the Schwann Cells from Both Intact and Injured Peripheral Nerves.

Submit: New GeneRIF Correction See all GeneRIFs (146)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Spontaneous (4) 1 citation
Transgenic (2) 1 citation
Radiation induced (5) 1 citation
Targeted (12) 1 citation
Chemically induced (ENU) (1) 1 citation
Endonuclease-mediated (6) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH136186 (e-PCR)
- UniSTS:210181

AI854843 (e-PCR)
- UniSTS:180498

31.MMHAP37FRC10.seq (e-PCR)
- UniSTS:123941

Gli3 (e-PCR), detects polymorphism
- UniSTS:525612

Gli3 (e-PCR), detects polymorphism
- UniSTS:465480

Gli3 (e-PCR), detects polymorphism
- UniSTS:265573

D13Mit264 (e-PCR), detects polymorphism
- UniSTS:127081

Gli3 (e-PCR), detects polymorphism
- UniSTS:143219

MHAa74g7.seq (e-PCR)
- UniSTS:125309

NoName (e-PCR)
- UniSTS:548489

Gli3 (e-PCR), detects polymorphism
- UniSTS:226195

NoName (e-PCR)
- UniSTS:236975

NoName (e-PCR)
- UniSTS:236976

GDB:1317516 (e-PCR)
- UniSTS:21187

X95255 (e-PCR)
- UniSTS:125895

Gli3 (e-PCR), detects polymorphism
- UniSTS:548068

AU023367 (e-PCR)
- UniSTS:165860

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity	ISO Inferred from Sequence Orthology more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	ISO Inferred from Sequence Orthology more info
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	ISO Inferred from Sequence Orthology more info
enables beta-catenin binding	ISO Inferred from Sequence Orthology more info
enables chromatin binding	IGI Inferred from Genetic Interaction more info	PubMed
enables histone acetyltransferase binding	ISO Inferred from Sequence Orthology more info
enables histone deacetylase binding	ISO Inferred from Sequence Orthology more info
enables mediator complex binding	ISO Inferred from Sequence Orthology more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables sequence-specific double-stranded DNA binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within T cell differentiation in thymus	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within alpha-beta T cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within anatomical structure development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within anatomical structure formation involved in morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within anterior semicircular canal development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within anterior/posterior pattern specification	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within anterior/posterior pattern specification	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within artery development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within axon guidance	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within brain development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within branching involved in ureteric bud morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within branching morphogenesis of an epithelial tube	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within camera-type eye development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within camera-type eye morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cell differentiation involved in kidney development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of cell population proliferation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within central nervous system development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within central nervous system development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cerebral cortex radial glia-guided migration	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of chondrocyte differentiation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within developmental growth	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within dorsal/ventral pattern formation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic digestive tract development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic digestive tract morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic digit morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within embryonic digit morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic limb morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within embryonic limb morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic neurocranium morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic skeletal system morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within forebrain development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within forebrain dorsal/ventral pattern formation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within forebrain radial glial cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within frontal suture morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within heart development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within hindgut morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within hippocampus development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within in utero embryonic development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within inner ear development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within kidney development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within lambdoid suture morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within larynx morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within lateral ganglionic eminence cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within lateral semicircular canal development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within layer formation in cerebral cortex	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in limb development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within limb morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in limb morphogenesis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within lung development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within lung development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within mammary gland development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within mammary gland specification	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within melanocyte differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within metanephros development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within negative regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of DNA-templated transcription	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of alpha-beta T cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of canonical Wnt signaling pathway	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of cell population proliferation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within negative regulation of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of chondrocyte differentiation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within negative regulation of neuron differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of smoothened signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of stem cell proliferation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within negative regulation of stem cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in negative thymic T cell selection	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neural tube development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of neuroblast proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neuroblast proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of neuron differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neuron fate commitment	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within odontogenesis of dentin-containing tooth	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within oligodendrocyte differentiation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within optic nerve morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of osteoblast differentiation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of osteoblast differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within pallium development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within pattern specification process	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of DNA-templated transcription	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of alpha-beta T cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of chondrocyte differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of neuroblast proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of osteoblast differentiation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within positive regulation of osteoblast differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of protein import into nucleus	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
acts_upstream_of protein import into nucleus	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within protein processing	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within proximal/distal pattern formation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within proximal/distal pattern formation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of DNA-templated transcription	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of bone development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of cell differentiation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within regulation of cell population proliferation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within regulation of gene expression	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within regulation of smoothened signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within roof of mouth development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within sagittal suture morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in smoothened signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within smoothened signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed
involved_in smoothened signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed
involved_in smoothened signaling pathway	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within smoothened signaling pathway involved in dorsal/ventral neural tube patterning	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within smoothened signaling pathway involved in spinal cord motor neuron cell fate specification	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within smoothened signaling pathway involved in ventral spinal cord interneuron specification	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within spinal cord dorsal/ventral patterning	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within spinal cord motor neuron differentiation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of stem cell proliferation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of stem cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within subpallium development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within telencephalon development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in thymocyte apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within tongue development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within tube development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within vocalization behavior	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of GLI-SUFU complex	ISO Inferred from Sequence Orthology more info
located_in axoneme	IDA Inferred from Direct Assay more info	PubMed
located_in cell projection	IEA Inferred from Electronic Annotation more info
is_active_in cilium	IDA Inferred from Direct Assay more info	PubMed
located_in cilium	IDA Inferred from Direct Assay more info	PubMed
located_in cilium	ISO Inferred from Sequence Orthology more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in intracellular membrane-bounded organelle	ISO Inferred from Sequence Orthology more info
located_in nuclear speck	IDA Inferred from Direct Assay more info	PubMed
located_in nucleolus	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISO Inferred from Sequence Orthology more info	PubMed
part_of transcription repressor complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: transcriptional activator GLI3

Names: GLI3 form of 190 kDa; GLI3 full length protein; anterior digit pattern deformity; brachyphalangy; extra toes; polydactyly Nagoya; zinc finger protein GLI3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.