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

Gene ID: 2737, updated on 19-Sep-2021

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
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Genomic context

See GLI3 in Genome Data Viewer
Location:
7p14.1
Exon count:
17
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (41960949..42237209, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (42000547..42276808, 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

Associated conditions

Description Tests
A genome-wide meta-analysis of genetic variants associated with allergic rhinitis and grass sensitization and their interaction with birth order.
GeneReviews: Not available
Gene-alcohol interactions identify several novel blood pressure loci including a promising locus near SLC16A9.
GeneReviews: Not available
Greig cephalopolysyndactyly syndrome Compare labs
Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis.
GeneReviews: Not available
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
GeneReviews: Not available
Pallister-Hall syndrome Compare labs
Postaxial polydactyly type A1
MedGen: C4282400 OMIM: 174200 GeneReviews: Not available
Compare labs
Preaxial polydactyly 4
MedGen: C1868111 OMIM: 174700 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2021-01-12)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2021-01-12)

ClinGen Genome Curation PagePubMed

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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

NEW Try the new Transcript table

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 109.20210514

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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