Format

Send to:

Choose Destination

GLI2 GLI family zinc finger 2 [ Homo sapiens (human) ]

Gene ID: 2736, updated on 12-Mar-2019

Summary

Official Symbol
GLI2provided by HGNC
Official Full Name
GLI family zinc finger 2provided by HGNC
Primary source
HGNC:HGNC:4318
See related
Ensembl:ENSG00000074047 MIM:165230
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
CJS; HPE9; PHS2; THP1; THP2
Summary
This gene encodes a protein which belongs to the C2H2-type zinc finger protein subclass of the Gli family. Members of this subclass are characterized as transcription factors which bind DNA through zinc finger motifs. These motifs contain conserved H-C links. Gli family zinc finger proteins are mediators of Sonic hedgehog (Shh) signaling and they are implicated as potent oncogenes in the embryonal carcinoma cell. The protein encoded by this gene localizes to the cytoplasm and activates patched Drosophila homolog (PTCH) gene expression. It is also thought to play a role during embryogenesis. The encoded protein is associated with several phenotypes- Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, preaxial polydactyly type IV, postaxial polydactyly types A1 and B. [provided by RefSeq, Jul 2008]
Expression
Broad expression in ovary (RPKM 2.5), endometrium (RPKM 1.2) and 19 other tissues See more
Orthologs

Genomic context

See GLI2 in Genome Data Viewer
Location:
2q14.2
Exon count:
19
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (120735865..120992653)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (121493441..121750229)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1101 Neighboring gene uncharacterized LOC105373585 Neighboring gene uncharacterized LOC105373587 Neighboring gene VISTA enhancer hs522

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 FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Culler-Jones syndrome
MedGen: C4014479 OMIM: 615849 GeneReviews: Not available
Compare labs
Holoprosencephaly 9
MedGen: C1835819 OMIM: 610829 GeneReviews: Holoprosencephaly Overview
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2011-12-01)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2011-12-01)

ClinGen Genome Curation PagePubMed

NHGRI GWAS Catalog

Description
Genetic variants associated with breast size also influence breast cancer risk.
NHGRI GWA Catalog
Genome-wide association study to identify single nucleotide polymorphisms (SNPs) associated with the development of erectile dysfunction in African-American men after radiotherapy for prostate cancer.
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
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Tat tat HIV-1 Tat binds to GLI2 and GLI2 binds to the human TGFB1 promoter, suggesting a potential mechanism for TGFB1 induction in HIV-1 infection PubMed
tat GLI-2 physically interacts with HIV-1 Tat (demonstrated in GST pull-down experiments) and strongly synergizes with Tat during transactivation of the HIV-1 LTR promoter PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

  • Basal cell carcinoma, organism-specific biosystem (from KEGG)
    Basal cell carcinoma, organism-specific biosystemCancer of the skin is the most common cancer in Caucasians and basal cell carcinomas (BCC) account for 90% of all skin cancers. The vast majority of BCC cases are sporadic, though there is a rare fam...
  • Basal cell carcinoma, conserved biosystem (from KEGG)
    Basal cell carcinoma, conserved biosystemCancer of the skin is the most common cancer in Caucasians and basal cell carcinomas (BCC) account for 90% of all skin cancers. The vast majority of BCC cases are sporadic, though there is a rare fam...
  • Degradation of GLI2 by the proteasome, organism-specific biosystem (from REACTOME)
    Degradation of GLI2 by the proteasome, organism-specific biosystemThe primary role of the GLI2 protein is as an activator of Hh-dependent signaling upon pathway stimulation; in the absence of Hh ligand, a small fraction of GLI2 appears to be processed to a represso...
  • Dopaminergic Neurogenesis, organism-specific biosystem (from WikiPathways)
    Dopaminergic Neurogenesis, organism-specific biosystemConverted to human from mouse: http://www.wikipathways.org/index.php/Pathway:WP1498
  • Endoderm Differentiation, organism-specific biosystem (from WikiPathways)
    Endoderm Differentiation, organism-specific biosystemModel depicting endoderm specification based on the literature and highly enriched gene expression profiles via comparison across dozens of independent induced and embryonic pluripotent stem cell lin...
  • GLI proteins bind promoters of Hh responsive genes to promote transcription, organism-specific biosystem (from REACTOME)
    GLI proteins bind promoters of Hh responsive genes to promote transcription, organism-specific biosystemGLI proteins are bifunctional DNA-binding proteins that recognize consensus GLI sites 5'-GACCACCC-3' in the promoters of target genes (Kinzler and Vogelstein, 1990). Pathway induction upon ligand-bi...
  • Hedgehog 'off' state, organism-specific biosystem (from REACTOME)
    Hedgehog 'off' state, organism-specific biosystemHedgehog is a secreted morphogen that has evolutionarily conserved roles in body organization by regulating the activity of the Ci/Gli transcription factor family. In Drosophila in the absence of Hh ...
  • Hedgehog 'on' state, organism-specific biosystem (from REACTOME)
    Hedgehog 'on' state, organism-specific biosystemHedgehog is a secreted morphogen that has evolutionarily conserved roles in body organization by regulating the activity of the Ci/Gli transcription factor family. In Drosophila in the absence of Hh ...
  • Hedgehog Signaling Pathway, organism-specific biosystem (from WikiPathways)
    Hedgehog Signaling Pathway, organism-specific biosystemThe Hedgehog family of proteins are signaling proteins that are crucial for a number of physiological processes including morphogenesis during development. In adult organisms, it is also involved in ...
  • Hedgehog signaling, organism-specific biosystem (from KEGG)
    Hedgehog signaling, organism-specific biosystemFunctional set; Cellular processes; Cell signaling
  • Hedgehog signaling, conserved biosystem (from KEGG)
    Hedgehog signaling, conserved biosystemFunctional set; Cellular processes; Cell signaling
  • Hedgehog signaling events mediated by Gli proteins, organism-specific biosystem (from Pathway Interaction Database)
    Hedgehog signaling events mediated by Gli proteins, organism-specific biosystem
    Hedgehog signaling events mediated by Gli proteins
  • Hedgehog signaling pathway, organism-specific biosystem (from KEGG)
    Hedgehog signaling pathway, organism-specific biosystemThe Hedgehog (Hh) signaling pathway has numerous roles in the control of cell proliferation, tissue patterning, stem cell maintenance and development. The primary cilium is an important center for tr...
  • Hedgehog signaling pathway, conserved biosystem (from KEGG)
    Hedgehog signaling pathway, conserved biosystemThe Hedgehog (Hh) signaling pathway has numerous roles in the control of cell proliferation, tissue patterning, stem cell maintenance and development. The primary cilium is an important center for tr...
  • Hippo signaling pathway, organism-specific biosystem (from KEGG)
    Hippo signaling pathway, organism-specific biosystemHippo signaling is an evolutionarily conserved signaling pathway that controls organ size from flies to humans. In humans and mice, the pathway consists of the MST1 and MST2 kinases, their cofactor S...
  • Hippo signaling pathway, conserved biosystem (from KEGG)
    Hippo signaling pathway, conserved biosystemHippo signaling is an evolutionarily conserved signaling pathway that controls organ size from flies to humans. In humans and mice, the pathway consists of the MST1 and MST2 kinases, their cofactor S...
  • Pathways in cancer, organism-specific biosystem (from KEGG)
    Pathways in cancer, organism-specific biosystem
    Pathways in cancer
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by Hedgehog, organism-specific biosystem (from REACTOME)
    Signaling by Hedgehog, organism-specific biosystemHedgehog (Hh) is a secreted morphogen that regulates developmental processes in vertebrates including limb bud formation, neural tube patterning, cell growth and differentiation (reviewed in Hui and ...
  • Signaling events mediated by the Hedgehog family, organism-specific biosystem (from Pathway Interaction Database)
    Signaling events mediated by the Hedgehog family, organism-specific biosystem
    Signaling events mediated by the Hedgehog family

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
anterior/posterior pattern specification IEA
Inferred from Electronic Annotation
more info
 
axon guidance ISS
Inferred from Sequence or Structural Similarity
more info
 
branching morphogenesis of an epithelial tube ISS
Inferred from Sequence or Structural Similarity
more info
 
cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to organic cyclic compound IEA
Inferred from Electronic Annotation
more info
 
cerebellar cortex morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
chondrocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
cochlea morphogenesis IEA
Inferred from Electronic Annotation
more info
 
developmental growth ISS
Inferred from Sequence or Structural Similarity
more info
 
embryonic digestive tract development ISS
Inferred from Sequence or Structural Similarity
more info
 
embryonic digit morphogenesis IEA
Inferred from Electronic Annotation
more info
 
floor plate formation ISS
Inferred from Sequence or Structural Similarity
more info
 
heart development ISS
Inferred from Sequence or Structural Similarity
more info
 
hindbrain development ISS
Inferred from Sequence or Structural Similarity
more info
 
hindgut morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
in utero embryonic development IEA
Inferred from Electronic Annotation
more info
 
kidney development ISS
Inferred from Sequence or Structural Similarity
more info
 
lung development ISS
Inferred from Sequence or Structural Similarity
more info
 
mammary gland development ISS
Inferred from Sequence or Structural Similarity
more info
 
mammary gland duct morphogenesis IEA
Inferred from Electronic Annotation
more info
 
negative regulation of apoptotic process IEA
Inferred from Electronic Annotation
more info
 
negative regulation of chondrocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
neuron development ISS
Inferred from Sequence or Structural Similarity
more info
 
notochord regression IEA
Inferred from Electronic Annotation
more info
 
odontogenesis of dentin-containing tooth ISS
Inferred from Sequence or Structural Similarity
more info
 
osteoblast development ISS
Inferred from Sequence or Structural Similarity
more info
 
pattern specification process ISS
Inferred from Sequence or Structural Similarity
more info
 
pituitary gland development ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of DNA replication IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of T cell differentiation in thymus ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of neuron differentiation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
prostatic bud formation IEA
Inferred from Electronic Annotation
more info
 
proximal/distal pattern formation ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of smoothened signaling pathway IEA
Inferred from Electronic Annotation
more info
 
skeletal system development ISS
Inferred from Sequence or Structural Similarity
more info
 
smoothened signaling pathway IDA
Inferred from Direct Assay
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 regulation of cerebellar granule cell precursor cell proliferation 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 ISS
Inferred from Sequence or Structural Similarity
more info
 
spinal cord dorsal/ventral patterning ISS
Inferred from Sequence or Structural Similarity
more info
 
spinal cord ventral commissure morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
tube development ISS
Inferred from Sequence or Structural Similarity
more info
 
ventral midline development ISS
Inferred from Sequence or Structural Similarity
more info
 
ventral spinal cord development ISS
Inferred from Sequence or Structural Similarity
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 ISS
Inferred from Sequence or Structural Similarity
more info
 
cytosol TAS
Traceable Author Statement
more info
 
membrane IEA
Inferred from Electronic Annotation
more info
 
motile cilium IEA
Inferred from Electronic Annotation
more info
 
nuclear speck IEA
Inferred from Electronic Annotation
more info
 
nucleolus IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
zinc finger protein GLI2
Names
GLI family zinc finger protein 2
GLI-Kruppel family member GLI2
glioma-associated oncogene family zinc finger 2
oncogene GLI2
tax helper protein 1
tax helper protein 2
tax-responsive element-2 holding protein
tax-responsive element-25-bp sequence binding protein

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_009030.1 RefSeqGene

    Range
    5001..200363
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_005270.4NP_005261.2  zinc finger protein GLI2

    See identical proteins and their annotated locations for NP_005261.2

    Status: REVIEWED

    Source sequence(s)
    AB209354, AJ707583, DQ004398, DQ086814
    Consensus CDS
    CCDS33283.1
    UniProtKB/Swiss-Prot
    P10070
    UniProtKB/TrEMBL
    Q1PSW9, Q59FV5
    Related
    ENSP00000354586.4, ENST00000361492.8
    Conserved Domains (3) summary
    COG5189
    Location:499589
    SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
    sd00017
    Location:505527
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam09606
    Location:11171503
    Med15; ARC105 or Med15 subunit of Mediator complex non-fungal

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

    Range
    120735865..120992653
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024452794.1XP_024308562.1  zinc finger protein GLI2 isoform X3

    Conserved Domains (3) summary
    COG5189
    Location:499589
    SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
    sd00017
    Location:505527
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam09606
    Location:11171503
    Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
  2. XM_006712422.3XP_006712485.1  zinc finger protein GLI2 isoform X4

    Conserved Domains (2) summary
    sd00017
    Location:488510
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:502529
    zf-H2C2_2; Zinc-finger double domain
  3. XM_024452795.1XP_024308563.1  zinc finger protein GLI2 isoform X3

    Related
    ENSP00000390436.1, ENST00000452319.5
    Conserved Domains (3) summary
    COG5189
    Location:499589
    SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
    sd00017
    Location:505527
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam09606
    Location:11171503
    Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
  4. XM_011510974.2XP_011509276.1  zinc finger protein GLI2 isoform X9

    Conserved Domains (2) summary
    sd00017
    Location:363385
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:377404
    zf-H2C2_2; Zinc-finger double domain
  5. XM_011510973.2XP_011509275.1  zinc finger protein GLI2 isoform X8

    Conserved Domains (2) summary
    sd00017
    Location:380402
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:394421
    zf-H2C2_2; Zinc-finger double domain
  6. XM_011510971.2XP_011509273.1  zinc finger protein GLI2 isoform X7

    See identical proteins and their annotated locations for XP_011509273.1

    Conserved Domains (2) summary
    sd00017
    Location:440462
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:454481
    zf-H2C2_2; Zinc-finger double domain
  7. XM_011510969.2XP_011509271.2  zinc finger protein GLI2 isoform X1

  8. XM_017003818.1XP_016859307.1  zinc finger protein GLI2 isoform X2

  9. XM_011510970.2XP_011509272.1  zinc finger protein GLI2 isoform X6

    Conserved Domains (2) summary
    sd00017
    Location:458480
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:472499
    zf-H2C2_2; Zinc-finger double domain
  10. XM_011510972.2XP_011509274.2  zinc finger protein GLI2 isoform X5

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_030379.1: Suppressed sequence

    Description
    NM_030379.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
  2. NM_030380.1: Suppressed sequence

    Description
    NM_030380.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
  3. NM_030381.1: Suppressed sequence

    Description
    NM_030381.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
Support Center