GLIS2 GLIS family zinc finger 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: GLIS2provided by HGNC
Official Full Name: GLIS family zinc finger 2provided by HGNC
Primary source: HGNC:HGNC:29450
See related: Ensembl:ENSG00000126603 MIM:608539; AllianceGenome:HGNC:29450
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: NKL; NPHP7
Summary: This gene is a member of the GLI-similar zinc finger protein family and encodes a nuclear transcription factor with five C2H2-type zinc finger domains. The protein encoded by this gene is widely expressed at low levels in the neural tube and peripheral nervous system and likely promotes neuronal differentiation. It is abundantly expressed in the kidney and may have a role in the regulation of kidney morphogenesis. p120 regulates the expression level of this protein and induces the cleavage of this protein's C-terminal zinc finger domain. This protein also promotes the nuclear translocation of p120. Mutations in this gene cause nephronophthisis (NPHP), an autosomal recessive kidney disease characterized by tubular basement membrane disruption, interstitial lymphohistiocytic cell infiltration, and development of cysts at the corticomedullary border of the kidneys.[provided by RefSeq, Jan 2010]
Expression: Broad expression in kidney (RPKM 14.7), lung (RPKM 9.3) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16p13.3

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (4314761..4339595)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (4342063..4366887)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (4364762..4389596)

Chromosome 16 - NC_000016.10 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
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?

GLIS2 and CCND1 expression levels in breast cancer patients.
Title: GLIS2 and CCND1 expression levels in breast cancer patients.
Glis2 inhibits the epithelial-mesenchymal transition and apoptosis of renal tubule cells by regulating the beta-catenin signalling pathway in diabetic kidney disease.
Title: Glis2 inhibits the epithelial-mesenchymal transition and apoptosis of renal tubule cells by regulating the β-catenin signalling pathway in diabetic kidney disease.
Circular RNA GLIS2 promotes colorectal cancer cell motility via activation of the NF-kappaB pathway.
Title: Circular RNA GLIS2 promotes colorectal cancer cell motility via activation of the NF-κB pathway.
Gene of the month: GLIS1-3.
Title: Gene of the month: GLIS1-3.
Study confirmed that high expression of GLIS2 is significantly associated with chemoresistance and a worse prognosis in gastric cancer, and that this high expression is likely to be an important biomarker.
Title: GLIS2 redundancy causes chemoresistance and poor prognosis of gastric cancer based on co‑expression network analysis.
CBFA2T3-GLIS2 fusion is associated with acute megakaryoblastic leukemia in non-Down syndrome.
Title: Prognostic impact of specific molecular profiles in pediatric acute megakaryoblastic leukemia in non-Down syndrome.
specific interference with ETO2-GLIS2 oligomerization reverses the transcriptional activation at enhancers and promotes megakaryocytic differentiation, providing a relevant interface to target in this poor-prognosis pediatric leukemia.
Title: ETO2-GLIS2 Hijacks Transcriptional Complexes to Drive Cellular Identity and Self-Renewal in Pediatric Acute Megakaryoblastic Leukemia.
Clinical courses of pediatric patients with AMKL harboring the CBFA2T3-GLIS2 fusion gene are poor due to resistance to chemotherapies and SCT. New treatment strategies are necessary.
Title: Clinical Courses of Two Pediatric Patients with Acute Megakaryoblastic Leukemia Harboring the CBFA2T3-GLIS2 Fusion Gene.
Nephronophthisis 7-related mutation C175R affects both localization and function of GLIS2 protein.
Title: The C175R mutation alters nuclear localization and transcriptional activity of the nephronophthisis NPHP7 gene product.
Glis2/NPHP7 is extensively modified by post-translational modifications
Title: SUMOylation Blocks the Ubiquitin-Mediated Degradation of the Nephronophthisis Gene Product Glis2/NPHP7.

Submit: New GeneRIF Correction See all GeneRIFs (20)

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
Nephronophthisis 7 MedGen: C1969092 OMIM: 611498 GeneReviews: Nephronophthisis-Related Ciliopathies	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D14S675E (e-PCR)
- UniSTS:151565

RH91717 (e-PCR)
- UniSTS:87355

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific	ISS Inferred from Sequence or Structural Similarity more info
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 metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables transcription cis-regulatory region binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in cell differentiation involved in kidney development	IEA Inferred from Electronic Annotation more info
involved_in central nervous system development	IBA Inferred from Biological aspect of Ancestor more info
involved_in hematopoietic stem cell homeostasis	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of DNA-binding transcription factor activity	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of DNA-templated transcription	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of smoothened signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of DNA-templated transcription	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of protein localization to nucleus	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in non-motile cilium	IEA Inferred from Electronic Annotation more info
located_in nuclear speck	ISS Inferred from Sequence or Structural Similarity more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: zinc finger protein GLIS2

Names: GLI-similar 2; Kruppel-like zinc finger protein GLIS2; nephrocystin-7; neuronal Krueppel-like 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_016391.2 RefSeqGene

Range

5001..29837

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001318918.2 → NP_001305847.1 zinc finger protein GLIS2

Status: REVIEWED

Source sequence(s)

AC005356, AF325914, AK095566, AK126918, AW452966

Consensus CDS

CCDS10511.1

UniProtKB/Swiss-Prot

B3KX84, Q9BZE0

Related

ENSP00000262366.3, ENST00000262366.7

Conserved Domains (2) summary

COG5048
Location:233 → 327

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

sd00017
Location:213 → 229

ZF_C2H2; C2H2 Zn finger [structural motif]
NM_032575.3 → NP_115964.2 zinc finger protein GLIS2

See identical proteins and their annotated locations for NP_115964.2

Status: REVIEWED

Source sequence(s)

AC005356, AC012676

UniProtKB/Swiss-Prot

B3KX84, Q9BZE0

Related

ENSP00000395547.1, ENST00000433375.2

Conserved Domains (2) summary

COG5048
Location:233 → 327

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

sd00017
Location:213 → 229

ZF_C2H2; C2H2 Zn finger [structural motif]