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

Summary

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Official Symbol: GLIS2provided by HGNC
Official Full Name: GLIS family zinc finger 2provided by HGNC
Primary source: HGNC:29450
See related: Ensembl:ENSG00000126603; HPRD:12256; MIM:608539; Vega:OTTHUMG00000129467
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]

Genomic context

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Location :: 16p13.3

Sequence :: Chromosome: 16; NC_000016.9 (4382225..4389598)

See GLIS2 in Epigenomics, MapViewer

Chromosome 16 - NC_000016.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

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Bibliography

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GeneRIFs: Gene References Into Functions What's a GeneRIF?

Identification of a cryptic chromosome 16 inversion (inv(16)(p13.3q24.3)) in 27% of pediatric acute megakaryoblastic leukemia cases, which encodes a CBFA2T3-GLIS2 fusion protein.
Title: An Inv(16)(p13.3q24.3)-encoded CBFA2T3-GLIS2 fusion protein defines an aggressive subtype of pediatric acute megakaryoblastic leukemia.
Glis2 can function as a transcriptional activator and that post-translational modification within its DNA-binding domain can regulate its transcriptional activity
Title: Identification of nuclear localization, DNA binding, and transactivating mechanisms of Kruppel-like zinc finger protein Gli-similar 2 (Glis2).
Observational study of gene-disease association. (HuGE Navigator)
Title: Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.
Study identified Glis2 as a transcription factor mutated in Nephronophthisis and demonstrate its essential role for the maintenance of renal tissue architecture through prevention of apoptosis and fibrosis.
Title: Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis.
identification of Gli-similar 2 (Glis2) as a novel binding protein for p120 catenin
Title: The transcriptional repressor Glis2 is a novel binding partner for p120 catenin.
Characterization of Glis2, a novel gene encoding a Gli-related, Kruppel-like transcription factor with transactivation and repressor functions
Title: Characterization of Glis2, a novel gene encoding a Gli-related, Krüppel-like transcription factor with transactivation and repressor functions. Roles in kidney development and neurogenesis.
Glis2 functions as a negative modulator of beta-catenin/TCF-mediated transcription.
Title: The Krüppel-like zinc finger protein Glis2 functions as a negative modulator of the Wnt/beta-catenin signaling pathway.

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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

Interactions

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Products	Interactant	Other Gene	Source	Pubs	Description
GLIS family zinc finger 2	P35222	CTNNB1	HPRD	PubMed
BioGRID:124182	BioGRID:118946	CPSF1	BioGRID	PubMed	Two-hybrid
BioGRID:124182	BioGRID:107880	CTNNB1	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:124182	BioGRID:118949	GPSM2	BioGRID	PubMed	Two-hybrid
BioGRID:124182	BioGRID:117087	RBFOX2	BioGRID	PubMed	Two-hybrid
BioGRID:124182	BioGRID:116960	SPECC1L	BioGRID	PubMed	Two-hybrid
BioGRID:124182	BioGRID:116466	U2AF2	BioGRID	PubMed	Two-hybrid
BioGRID:124182	BioGRID:122403	WNK1	BioGRID	PubMed	Two-hybrid
BioGRID:124182	BioGRID:121273	XAB2	BioGRID	PubMed	Two-hybrid

General gene information

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Markers

D14S675E (e-PCR)
- UniSTS:151565

RH91717 (e-PCR)
- UniSTS:87355

Homology

Homologs of the GLIS2 gene: The GLIS2 gene is conserved in dog, cow, mouse, rat, and zebrafish.
Map Viewer (Mouse, Rat)
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	ISS Inferred from Sequence or Structural Similarity more info
transcription regulatory region DNA binding	ISS Inferred from Sequence or Structural Similarity more info
zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
cell differentiation	IEA Inferred from Electronic Annotation more info
negative regulation of sequence-specific DNA binding transcription factor activity	ISS Inferred from Sequence or Structural Similarity more info
negative regulation of smoothened signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
negative regulation of transcription from RNA polymerase II promoter	ISS Inferred from Sequence or Structural Similarity more info
negative regulation of transcription, DNA-dependent	ISS Inferred from Sequence or Structural Similarity more info
nervous system development	IEA Inferred from Electronic Annotation more info
positive regulation of transcription from RNA polymerase II promoter	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of transcription, DNA-dependent	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
cytoplasm	IEA Inferred from Electronic Annotation more info
nuclear speck	ISS Inferred from Sequence or Structural Similarity more info
nucleus	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: zinc finger protein GLIS2

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

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_016391.1 RefSeqGene

Range

5001..12374

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_032575.2 → NP_115964.2 zinc finger protein GLIS2

Status: REVIEWED

Source sequence(s)

AC012676, AF325914

Consensus CDS

CCDS10511.1

UniProtKB/Swiss-Prot

Q9BZE0

Related

ENSP00000395547, ENST00000433375

Conserved Domains (2) summary

COG5048
Location:231 – 310
Blast Score: 135

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

pfam13465
Location:222 – 246
Blast Score: 98

zf-H2C2_2; Zinc-finger double domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

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

Reference GRCh37.p10 Primary Assembly

Genomic

NC_000016.9 Reference GRCh37.p10 Primary Assembly

Range

4382225..4389598

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000148.1 Alternate HuRef

Range

4349132..4356463

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.0

Genomic

NC_018927.1 Alternate CHM1_1.0

Range

4317956..4325329

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	ABBA01026769.1 (2..7333)	None
genomic	AC005356.1	None
genomic	AC012676.5 (32591..39965)	None
genomic	AMYH01007103.1 (15909..23282)	None
genomic	CH471112.2	EAW85317.1
		EAW85318.1
mRNA	AF325914.1	AAK00954.1
mRNA	AK095566.1	BAG53086.1
mRNA	AK096936.1	None
mRNA	AK124985.1	None
mRNA	AK126918.1	BAG54396.1
mRNA	BC033763.1	None
other-genetic	BC141548.1	AAI41549.1
other-genetic	BC146548.1	AAI46549.1