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Gene : GLIS2 Homo sapiens

Name  ? GLIS family zinc finger 2 Cytological Location  16p13.3
Brief Description  GLIS family zinc finger 2
Description  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]
  • synonyms:
  • NKL,
  • OTTHUMG00000129467,
  • NPHP7,
  • HGNC:29450,
  • AF325914,
  • uc002cwc.2,
  • nephrocystin-7,
  • GLIS2,
  • NPHP7,
  • Gli-similar 2,
  • NM_032575
  • identifiers:
  • 84662,
  • ENSG00000126603,
  • GLIS2

Genome feature

Region: gene ? Length: 24837  
Location: 16:4314761-4339597 Cyto location: 16p13.3


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Function

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0 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Gene --> Physical and Genetic Interactions

Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

0 Pathways

85 SN Ps

5 Cross References

16 Data Sets

11 Homologues

0 Located Features

97 Rna Seq Results