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GLI3 GLI family zinc finger 3 [ Homo sapiens (human) ]

Gene ID: 2737, updated on 14-Jun-2020

Summary

Official Symbol
GLI3provided by HGNC
Official Full Name
GLI family zinc finger 3provided by HGNC
Primary source
HGNC:HGNC:4319
See related
Ensembl:ENSG00000106571 MIM:165240
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PHS; ACLS; GCPS; PAPA; PAPB; PAP-A; PAPA1; PPDIV; GLI3FL; GLI3-190
Summary
This gene encodes a protein which belongs to the C2H2-type zinc finger proteins subclass of the Gli family. They are characterized as DNA-binding transcription factors and are mediators of Sonic hedgehog (Shh) signaling. The protein encoded by this gene localizes in the cytoplasm and activates patched Drosophila homolog (PTCH) gene expression. It is also thought to play a role during embryogenesis. Mutations in this gene have been associated with several diseases, including Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, preaxial polydactyly type IV, and postaxial polydactyly types A1 and B. [provided by RefSeq, Jul 2008]
Expression
Broad expression in ovary (RPKM 4.0), endometrium (RPKM 3.1) and 22 other tissues See more
Orthologs

Genomic context

See GLI3 in Genome Data Viewer
Location:
7p14.1
Exon count:
17
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (41960949..42237209, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (42000547..42277469, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene INHBA antisense RNA 1 Neighboring gene uncharacterized LOC107986788 Neighboring gene uncharacterized LOC105375248 Neighboring gene VISTA enhancer hs1586 Neighboring gene VISTA enhancer hs111 Neighboring gene high mobility group nucleosomal binding domain 2 pseudogene 30 Neighboring gene VISTA enhancer hs1213 Neighboring gene uncharacterized LOC105375249 Neighboring gene uncharacterized LOC105375250

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-03-22)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2012-03-22)

ClinGen Genome Curation PagePubMed

NHGRI GWAS Catalog

Description
A genome-wide meta-analysis of genetic variants associated with allergic rhinitis and grass sensitization and their interaction with birth order.
NHGRI GWA Catalog
Gene-alcohol interactions identify several novel blood pressure loci including a promising locus near SLC16A9.
NHGRI GWA Catalog
Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis.
NHGRI GWA Catalog
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA-binding transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
RNA polymerase II proximal promoter sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
RNA polymerase II regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
RNA polymerase II regulatory region sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
beta-catenin binding IPI
Inferred from Physical Interaction
more info
PubMed 
chromatin binding IEA
Inferred from Electronic Annotation
more info
 
histone acetyltransferase binding IPI
Inferred from Physical Interaction
more info
PubMed 
histone deacetylase binding IDA
Inferred from Direct Assay
more info
PubMed 
mediator complex binding IDA
Inferred from Direct Assay
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
T cell differentiation in thymus ISS
Inferred from Sequence or Structural Similarity
more info
 
anterior semicircular canal development IEA
Inferred from Electronic Annotation
more info
 
anterior/posterior pattern specification IEA
Inferred from Electronic Annotation
more info
 
artery development IEA
Inferred from Electronic Annotation
more info
 
axon guidance IEA
Inferred from Electronic Annotation
more info
 
branching involved in ureteric bud morphogenesis IEA
Inferred from Electronic Annotation
more info
 
camera-type eye morphogenesis IEA
Inferred from Electronic Annotation
more info
 
cell differentiation involved in kidney development IEA
Inferred from Electronic Annotation
more info
 
developmental growth IEA
Inferred from Electronic Annotation
more info
 
embryonic digestive tract development TAS
Traceable Author Statement
more info
PubMed 
embryonic digestive tract morphogenesis IEA
Inferred from Electronic Annotation
more info
 
embryonic digit morphogenesis TAS
Traceable Author Statement
more info
PubMed 
embryonic neurocranium morphogenesis IEA
Inferred from Electronic Annotation
more info
 
forebrain dorsal/ventral pattern formation IEA
Inferred from Electronic Annotation
more info
 
forebrain radial glial cell differentiation IEA
Inferred from Electronic Annotation
more info
 
frontal suture morphogenesis IEA
Inferred from Electronic Annotation
more info
 
heart development IEA
Inferred from Electronic Annotation
more info
 
hindgut morphogenesis IEA
Inferred from Electronic Annotation
more info
 
hippocampus development IEA
Inferred from Electronic Annotation
more info
 
in utero embryonic development IEA
Inferred from Electronic Annotation
more info
 
lambdoid suture morphogenesis IEA
Inferred from Electronic Annotation
more info
 
lateral ganglionic eminence cell proliferation IEA
Inferred from Electronic Annotation
more info
 
lateral semicircular canal development IEA
Inferred from Electronic Annotation
more info
 
layer formation in cerebral cortex IEA
Inferred from Electronic Annotation
more info
 
limb morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
liver regeneration IEA
Inferred from Electronic Annotation
more info
 
lung development IEA
Inferred from Electronic Annotation
more info
 
mammary gland specification IEA
Inferred from Electronic Annotation
more info
 
melanocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
metanephros development IEA
Inferred from Electronic Annotation
more info
 
negative regulation of alpha-beta T cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of apoptotic process IEA
Inferred from Electronic Annotation
more info
 
negative regulation of canonical Wnt signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of cell proliferation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of neuron differentiation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of smoothened signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
negative thymic T cell selection ISS
Inferred from Sequence or Structural Similarity
more info
 
nose morphogenesis TAS
Traceable Author Statement
more info
PubMed 
odontogenesis of dentin-containing tooth IEA
Inferred from Electronic Annotation
more info
 
oligodendrocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
optic nerve morphogenesis IEA
Inferred from Electronic Annotation
more info
 
positive regulation of alpha-beta T cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of chondrocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of neuroblast proliferation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of osteoblast differentiation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of protein import into nucleus IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of transcription, DNA-templated ISS
Inferred from Sequence or Structural Similarity
more info
 
prostate gland development IEA
Inferred from Electronic Annotation
more info
 
protein processing IEA
Inferred from Electronic Annotation
more info
 
proximal/distal pattern formation IEA
Inferred from Electronic Annotation
more info
 
regulation of bone development IEA
Inferred from Electronic Annotation
more info
 
response to estrogen IEA
Inferred from Electronic Annotation
more info
 
roof of mouth development IEA
Inferred from Electronic Annotation
more info
 
sagittal suture morphogenesis IEA
Inferred from Electronic Annotation
more info
 
smoothened signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
smoothened signaling pathway TAS
Traceable Author Statement
more info
PubMed 
smoothened signaling pathway involved in dorsal/ventral neural tube patterning IEA
Inferred from Electronic Annotation
more info
 
smoothened signaling pathway involved in spinal cord motor neuron cell fate specification IEA
Inferred from Electronic Annotation
more info
 
smoothened signaling pathway involved in ventral spinal cord interneuron specification IEA
Inferred from Electronic Annotation
more info
 
thymocyte apoptotic process ISS
Inferred from Sequence or Structural Similarity
more info
 
tongue development IEA
Inferred from Electronic Annotation
more info
 
vocalization behavior IEA
Inferred from Electronic Annotation
more info
 
wound healing IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
axoneme IEA
Inferred from Electronic Annotation
more info
 
ciliary base TAS
Traceable Author Statement
more info
 
ciliary tip TAS
Traceable Author Statement
more info
 
cilium IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
nuclear speck IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
transcriptional repressor complex IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
transcriptional activator GLI3
Names
GLI-Kruppel family member GLI3
glioma-associated oncogene family zinc finger 3
oncogene GLI3
zinc finger protein GLI3

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_008434.1 RefSeqGene

    Range
    4811..281072
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000168.6NP_000159.3  transcriptional activator GLI3

    See identical proteins and their annotated locations for NP_000159.3

    Status: REVIEWED

    Source sequence(s)
    AA330409, AC005028, AC005158, AI863961, BC113616, BI497308, DA713549
    Consensus CDS
    CCDS5465.1
    UniProtKB/Swiss-Prot
    P10071
    Related
    ENSP00000379258.3, ENST00000395925.8
    Conserved Domains (2) summary
    sd00017
    Location:548570
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:562589
    zf-H2C2_2; Zinc-finger double domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    41960949..42237209 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011515274.2XP_011513576.1  transcriptional activator GLI3 isoform X2

    Related
    ENSP00000496377.1, ENST00000479210.1
    Conserved Domains (2) summary
    sd00017
    Location:489511
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:503530
    zf-H2C2_2; Zinc-finger double domain
  2. XM_017011997.1XP_016867486.1  transcriptional activator GLI3 isoform X1

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