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

Gene ID: 84662, updated on 23-Nov-2021

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
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
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Genomic context

See GLIS2 in Genome Data Viewer
Location:
16p13.3
Exon count:
9
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (4314761..4339595)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (4364762..4389596)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene putative uncharacterized protein encoded by LINC00596 Neighboring gene transcription factor AP-4 Neighboring gene GLIS2 antisense RNA 1 Neighboring gene CORO7-PAM16 readthrough Neighboring gene presequence translocase associated motor 16 Neighboring gene coronin 7 Neighboring gene vasorin

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ38247

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
PubMed 
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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 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
PubMed 
involved_in negative regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of transcription, DNA-templated 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
PubMed 
involved_in positive regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of transcription, DNA-templated ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in regulation of transcription from RNA polymerase II promoter involved in kidney development IEA
Inferred from Electronic Annotation
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
PubMed 
located_in nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

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

  1. NG_016391.2 RefSeqGene

    Range
    5001..29837
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001318918.2NP_001305847.1  zinc finger protein GLIS2

    Status: REVIEWED

    Source sequence(s)
    AC005356, AF325914, AK095566, AK126918, AW452966
    Consensus CDS
    CCDS10511.1
    UniProtKB/Swiss-Prot
    Q9BZE0
    UniProtKB/TrEMBL
    B3KTH4
    Related
    ENSP00000262366.3, ENST00000262366.7
    Conserved Domains (2) summary
    COG5048
    Location:233327
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:213229
    ZF_C2H2; C2H2 Zn finger [structural motif]
  2. NM_032575.3NP_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
    Q9BZE0
    Related
    ENSP00000395547.1, ENST00000433375.2
    Conserved Domains (2) summary
    COG5048
    Location:233327
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:213229
    ZF_C2H2; C2H2 Zn finger [structural motif]

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    4314761..4339595
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NT_187608.1 Reference GRCh38.p13 ALT_REF_LOCI_1

    Range
    15125..39959
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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