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

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: mouse all
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Genomic context

Location:: 2q14.2

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (120735868..120992653)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (121171586..121428571)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (121493444..121750229)

Chromosome 2 - NC_000002.12 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: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

KRAS Promotes GLI2-Dependent Transcription during Pancreatic Carcinogenesis.
Title: KRAS Promotes GLI2-Dependent Transcription during Pancreatic Carcinogenesis.
Positive regulation of Hedgehog signaling via phosphorylation of GLI2/GLI3 by DYRK2 kinase.
Title: Positive regulation of Hedgehog signaling via phosphorylation of GLI2/GLI3 by DYRK2 kinase.
GLI family zinc finger protein 2 promotes skin fibroblast proliferation and DNA damage repair by targeting the miR-200/ataxia telangiectasia mutated axis in diabetic wound healing.
Title: GLI family zinc finger protein 2 promotes skin fibroblast proliferation and DNA damage repair by targeting the miR-200/ataxia telangiectasia mutated axis in diabetic wound healing.
TGF-beta1/SMAD3-driven GLI2 isoform expression contributes to aggressive phenotypes of hepatocellular carcinoma.
Title: TGF-β1/SMAD3-driven GLI2 isoform expression contributes to aggressive phenotypes of hepatocellular carcinoma.
Heterozygous missense variant in GLI2 impairs human endocrine pancreas development.
Title: Heterozygous missense variant in GLI2 impairs human endocrine pancreas development.
Anoikis regulator GLI2 promotes NC cell immunity escape by TGF-beta-mediated non-classic hedgehog signaling in colorectal cancer: based on artificial intelligence and big data analysis.
Title: Anoikis regulator GLI2 promotes NC cell immunity escape by TGF-β-mediated non-classic hedgehog signaling in colorectal cancer: based on artificial intelligence and big data analysis.
Increasing Ciliary ARL13B Expression Drives Active and Inhibitor-Resistant Smoothened and GLI into Glioma Primary Cilia.
Title: Increasing Ciliary ARL13B Expression Drives Active and Inhibitor-Resistant Smoothened and GLI into Glioma Primary Cilia.
Genetic diagnosis of congenital hypopituitarism in Turkish patients by a target gene panel: novel pathogenic variants in GHRHR, GLI2, LHX4 and POU1F1 genes.
Title: Genetic diagnosis of congenital hypopituitarism in Turkish patients by a target gene panel: novel pathogenic variants in GHRHR, GLI2, LHX4 and POU1F1 genes.
The GLI2/CDH6 axis enhances migration, invasion and mitochondrial fission of stomach adenocarcinoma cells.
Title: The GLI2/CDH6 axis enhances migration, invasion and mitochondrial fission of stomach adenocarcinoma cells.
Circular RNA circ-FIRRE interacts with HNRNPC to promote esophageal squamous cell carcinoma progression by stabilizing GLI2 mRNA.
Title: Circular RNA circ-FIRRE interacts with HNRNPC to promote esophageal squamous cell carcinoma progression by stabilizing GLI2 mRNA.

Submit: New GeneRIF Correction See all GeneRIFs (171)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Holoprosencephaly 9 MedGen: C1835819 OMIM: 610829 GeneReviews: Holoprosencephaly Overview	not available
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome MedGen: C4014479 OMIM: 615849 GeneReviews: Not available	not available

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 EBI GWAS CatalogPubMed
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 EBI GWAS CatalogPubMed
Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WI-10818 (e-PCR)
- UniSTS:2058

Gli2 (e-PCR), detects polymorphism
- UniSTS:265490

RH68635 (e-PCR)
- UniSTS:73524

G60419 (e-PCR)
- UniSTS:137525

D2S283 (e-PCR), detects polymorphism
- UniSTS:878

SHGC-105013 (e-PCR)
- UniSTS:169084

D2S2265 (e-PCR), detects polymorphism
- UniSTS:55677

D2S2260 (e-PCR)
- UniSTS:22656

RH92671 (e-PCR)
- UniSTS:86701

SHGC-83341 (e-PCR)
- UniSTS:101046

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
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 promoter-specific chromatin binding	IDA Inferred from Direct Assay more info	PubMed
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	IDA Inferred from Direct Assay more info	PubMed
enables zinc ion binding	IDA Inferred from Direct Assay more info	PubMed

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 cellular response to virus	IDA Inferred from Direct Assay more info	PubMed
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 epidermal cell differentiation	IDA Inferred from Direct Assay more info	PubMed
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	IDA Inferred from Direct Assay more info	PubMed
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 osteoblast differentiation	IDA Inferred from Direct Assay more info	PubMed
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

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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)

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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.

Genomic

NG_009030.2 RefSeqGene

Range

5002..261787

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001371271.1 → NP_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:499 → 589

SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]

sd00017
Location:505 → 527

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam09606
Location:1117 → 1503

Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
NM_001374353.1 → NP_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:288 → 549

COG5048; FOG: Zn-finger [General function prediction only]

COG5189
Location:482 → 572

SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]

sd00017
Location:488 → 510

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam09606
Location:1100 → 1486

Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
NM_001374354.1 → NP_001361283.1 zinc finger protein GLI2 isoform 3

Status: REVIEWED

Source sequence(s)

AC016764, AC017033

Conserved Domains (4) summary

COG5048
Location:163 → 424

COG5048; FOG: Zn-finger [General function prediction only]

COG5189
Location:357 → 447

SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]

sd00017
Location:363 → 385

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam09606
Location:975 → 1361

Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
NM_005270.5 → NP_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:499 → 589

SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]

sd00017
Location:505 → 527

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam09606
Location:1117 → 1503

Med15; ARC105 or Med15 subunit of Mediator complex non-fungal

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

120735868..120992653

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

A0A7I2PJA1
XM_011510971.3 → XP_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:440 → 462

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam13465
Location:454 → 481

zf-H2C2_2; Zinc-finger double domain
XM_011510969.3 → XP_011509271.3 zinc finger protein GLI2 isoform X1
XM_017003818.2 → XP_016859307.2 zinc finger protein GLI2 isoform X2

Alternate T2T-CHM13v2.0

Genomic

NC_060926.1 Alternate T2T-CHM13v2.0

Range

121171586..121428571

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054341398.1 → XP_054197373.1 zinc finger protein GLI2 isoform X3
XM_054341402.1 → XP_054197377.1 zinc finger protein GLI2 isoform X9
XM_054341401.1 → XP_054197376.1 zinc finger protein GLI2 isoform X4
XM_054341396.1 → XP_054197371.1 zinc finger protein GLI2 isoform X5
XM_054341397.1 → XP_054197372.1 zinc finger protein GLI2 isoform X6
XM_054341400.1 → XP_054197375.1 zinc finger protein GLI2 isoform X8
XM_054341399.1 → XP_054197374.1 zinc finger protein GLI2 isoform X7

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_030379.1: Suppressed sequence

Description

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

Description

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

Description

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