GLIS2
entrez
84662
canonical
uniprot
Q9BZE0
canonical
ensembl
ENSG00000126603
resolver
ensembl
ENSG00000274636
resolver
ensp
ENSP00000262366
resolver
ensp
ENSP00000395547
resolver
ensp
ENSP00000484027
resolver
ensp
ENSP00000488242
resolver
enst
ENST00000262366
resolver
enst
ENST00000433375
resolver
enst
ENST00000612491
resolver
enst
ENST00000633051
resolver
genesymbol
GLIS2
resolver
genesymbol_syn
NKL
resolver
hgnc
HGNC:29450
resolver
uniprot
B3KTH4
resolver
uniprot
B3KX84
resolver
uniprot_entry
B3KTH4_HUMAN
resolver
uniprot_entry
GLIS2_HUMAN
resolver
uniprot_sec
B3KX84
resolver
amino_acid_sequence
MHSLDEPLDLKLSITKLRAAREKRERTLGVVRPRALHRELGLVDDSPTPGSPGSPPSGFLLNSKFPEKVEGRFSAAPLVDLSLSPPSGLDSPNGSSSLSPERQGNGDLPPVPSASDFQPLRYLDGVPSSFQFFLPLGSGGALHLPASSFLTPPKDKCLSPDLPLPKQLVCRWAKCNQLFELLQDLVDHVNDYHVKPEKDAGYCCHWEGCARHGRGFNARYKMLIHIRTHTNEKPHRCPTCSKSFSRLENLKIHNRSHTGEKPYVCPYEGCNKRYSNSSDRFKHTRTHYVDKPYYCKMPGCHKRYTDPSSLRKHIKAHGHFVSHEQQELLQLRPPPKPPLPAPDGGPYVSGAQIIIPNPAALFGGPGLPGLPLPLAPGPLDLSALACGNGGGSGGGGGMGPGLPGPVLPLNLAKNPLLPSPFGAGGLGLPVVSLLAGAAGGKAEGEKGRGSVPTRALGMEGHKTPLERTESSCSRPSPDGLPLLPGTVLDLSTGVNSAASSPEALAPGWVVIPPGSVLLKPAVVN
uniprot
proteins
disease_involvement
DISEASE: Nephronophthisis 7 (NPHP7) [MIM:611498]: An autosomal recessive disorder resulting in end-stage renal disease during childhood or adolescence. It is a progressive tubulo-interstitial kidney disorder histologically characterized by modifications of the tubules with thickening of the basement membrane, interstitial fibrosis and, in the advanced stages, medullary cysts. {ECO:0000269|PubMed:17618285}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Can act either as a transcriptional repressor or as a transcriptional activator, depending on the cell context. Acts as a repressor of the Hedgehog signaling pathway (By similarity). Represses the Hedgehog-dependent expression of Wnt4 (By similarity). Necessary to maintain the differentiated epithelial phenotype in renal cells through the inhibition of SNAI1, which itself induces the epithelial-to-mesenchymal transition (By similarity). Represses transcriptional activation mediated by CTNNB1 in the Wnt signaling pathway. May act by recruiting the corepressors CTBP1 and HDAC3. May be involved in neuron differentiation (By similarity). {ECO:0000250}.
uniprot
proteins
mass_dalton
55689
uniprot
proteins
post_translational_modification
PTM: C-terminus cleavage is induced by interaction with CTNND1 and enhanced by Src tyrosine kinase. {ECO:0000250}.
uniprot
proteins
protein_family
GLI C2H2-type zinc-finger protein family
uniprot
proteins
pubmed
11262234
uniprot
proteins
pubmed
11738817
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15616553
uniprot
proteins
pubmed
17289029
uniprot
proteins
pubmed
17344476
uniprot
proteins
pubmed
17618285
uniprot
proteins
sequence_length
524
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus speckle {ECO:0000250}. Cytoplasm {ECO:0000250}.
uniprot
proteins