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

Gene ID: 2736, updated on 5-May-2024

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; AllianceGenome:HGNC:4318
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
NEW
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Genomic context

Location:
2q14.2
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (120735868..120992653)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (121171586..121428571)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (121493444..121750229)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:121301087-121302286 Neighboring gene uncharacterized LOC105373585 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16461 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11919 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:121317507-121318008 Neighboring gene NANOG hESC enhancer GRCh37_chr2:121332587-121333189 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:121345700-121346593 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:121352388-121352896 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:121355088-121355588 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:121355589-121356089 Neighboring gene Sharpr-MPRA regulatory region 1201 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:121366968-121367468 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:121412505-121413005 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:121419009-121419957 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:121426571-121427770 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:121463233-121463948 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:121466954-121467822 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:121467823-121468690 Neighboring gene uncharacterized LOC124906073 Neighboring gene uncharacterized LOC124907881 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:121492073-121492720 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_52581 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:121494648-121495148 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:121495149-121495649 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:121496056-121496893 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:121496894-121497730 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:121498530-121499171 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:121497887-121498529 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:121503217-121503718 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:121510854-121511369 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:121515981-121516842 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:121526109-121526644 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:121531159-121531669 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:121540897-121541818 Neighboring gene Sharpr-MPRA regulatory region 398 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:121543663-121544585 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:121545508-121546430 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:121547621-121548252 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:121552862-121553525 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:121562057-121562706 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:121565847-121566347 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:121579379-121580044 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:121580881-121581688 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:121581689-121582496 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:121582497-121583304 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:121590494-121591486 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:121603734-121604234 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:121613936-121614585 Neighboring gene uncharacterized LOC124907880 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:121629417-121630339 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:121644446-121645013 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:121665103-121665838 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:121665839-121666575 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:121668884-121669827 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:121672119-121672892 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:121672893-121673666 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:121692033-121693232 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:121700728-121701316 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:121701317-121701903 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:121717481-121717980 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:121721921-121722462 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:121722463-121723004 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:121723005-121723545 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:121740347-121740857 Neighboring gene NANOG hESC enhancer GRCh37_chr2:121759954-121760517 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:121776165-121776784 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:121776785-121777404 Neighboring gene uncharacterized LOC105373587 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:121828403-121828966 Neighboring gene VISTA enhancer hs522 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:121889594-121890232 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:121890689-121891190 Neighboring gene uncharacterized LOC105373588

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 2021-01-11)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2021-01-11)

ClinGen Genome Curation PagePubMed

EBI GWAS Catalog

Description
Genetic variants associated with breast size also influence breast cancer risk.
EBI GWAS 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.
EBI GWAS Catalog
Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis.
EBI GWAS Catalog
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
EBI GWAS 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 PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in axon guidance ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in branching morphogenesis of an epithelial tube ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cerebellar cortex morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in developmental growth ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in embryonic digestive tract development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in floor plate formation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in hair follicle morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in heart development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in hindbrain development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in hindgut morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in kidney development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in lung development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in mammary gland development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in neuron development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in odontogenesis of dentin-containing tooth ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in osteoblast development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in pattern specification process ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in pituitary gland development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of DNA replication 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 T cell differentiation in thymus ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
involved_in proximal/distal pattern formation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of DNA-templated transcription ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in skeletal system development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in smoothened signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in smoothened signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
involved_in smoothened signaling pathway involved in ventral spinal cord interneuron specification ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in spinal cord dorsal/ventral patterning ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in spinal cord ventral commissure morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in tube development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in ventral midline development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in ventral spinal cord development ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
part_of GLI-SUFU complex ISS
Inferred from Sequence or Structural Similarity
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 ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in cytosol TAS
Traceable Author Statement
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
 
located_in 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)

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_009030.2 RefSeqGene

    Range
    5002..261787
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001371271.1NP_001358200.1  zinc finger protein GLI2 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC016764, AC017033
    Consensus CDS
    CCDS33283.1
    UniProtKB/Swiss-Prot
    O60252, O60253, O60254, O60255, P10070, Q15590, Q15591, Q4JHT4
    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. NM_001374353.1NP_001361282.1  zinc finger protein GLI2 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC016764, AC017033
    Consensus CDS
    CCDS92850.1
    UniProtKB/TrEMBL
    A0A7I2PJA1
    Related
    ENSP00000354586.5, ENST00000361492.9
    Conserved Domains (4) summary
    COG5048
    Location:288549
    COG5048; FOG: Zn-finger [General function prediction only]
    COG5189
    Location:482572
    SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
    sd00017
    Location:488510
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam09606
    Location:11001486
    Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
  3. NM_001374354.1NP_001361283.1  zinc finger protein GLI2 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC016764, AC017033
    Conserved Domains (4) summary
    COG5048
    Location:163424
    COG5048; FOG: Zn-finger [General function prediction only]
    COG5189
    Location:357447
    SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
    sd00017
    Location:363385
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam09606
    Location:9751361
    Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
  4. NM_005270.5NP_005261.2  zinc finger protein GLI2 isoform 1

    See identical proteins and their annotated locations for NP_005261.2

    Status: REVIEWED

    Source sequence(s)
    AC016764, AC017033
    Consensus CDS
    CCDS33283.1
    UniProtKB/Swiss-Prot
    O60252, O60253, O60254, O60255, P10070, Q15590, Q15591, Q4JHT4
    Related
    ENSP00000390436.1, ENST00000452319.6
    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: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    120735868..120992653
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047443947.1XP_047299903.1  zinc finger protein GLI2 isoform X3

    UniProtKB/TrEMBL
    A0A7I2PJA1
  2. XM_011510971.3XP_011509273.1  zinc finger protein GLI2 isoform X4

    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
  3. XM_011510969.3XP_011509271.3  zinc finger protein GLI2 isoform X1

  4. XM_017003818.2XP_016859307.2  zinc finger protein GLI2 isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    121171586..121428571
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054341398.1XP_054197373.1  zinc finger protein GLI2 isoform X3

  2. XM_054341402.1XP_054197377.1  zinc finger protein GLI2 isoform X9

  3. XM_054341401.1XP_054197376.1  zinc finger protein GLI2 isoform X4

  4. XM_054341396.1XP_054197371.1  zinc finger protein GLI2 isoform X5

  5. XM_054341397.1XP_054197372.1  zinc finger protein GLI2 isoform X6

  6. XM_054341400.1XP_054197375.1  zinc finger protein GLI2 isoform X8

  7. XM_054341399.1XP_054197374.1  zinc finger protein GLI2 isoform X7

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.