GLIS2

GENE INFORMATION

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Gene name

GLIS2 (HGNC Symbol)

Synonyms

NPHP7

Description

GLIS family zinc finger 2 (HGNC Symbol)

Entrez gene 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]

Chromosome

16

Cytoband

p13.3

Chromosome location (bp)

4314761 - 4339597

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000126603 (version 78.38)

Entrez gene

84662

UniProt

Q9BZE0 (UniProt - Evidence at protein level)

neXtProt

NX_Q9BZE0

Antibodypedia

GLIS2 antibodies
 

PROTEIN VIEW

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GLIS2-001
 
GLIS2-201
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

GLIS2-001 ENSP00000262366
ENST00000262366
Q9BZE0
Show all »
Show » Show » 524 55.7 No 0
GLIS2-201 ENSP00000395547
ENST00000433375
Q9BZE0
Show all »
Show » Show » 524 55.7 No 0