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Aliases for GLIS3 Gene

Aliases for GLIS3 Gene

  • GLIS Family Zinc Finger 3 2 3 5
  • Zinc Finger Protein 515 2 3 4
  • GLI-Similar 3 3 4
  • ZNF515 3 4
  • Zinc Finger Protein GLIS3 3
  • OK/KNS-Cl.4 3
  • NDH 3

External Ids for GLIS3 Gene

Previous HGNC Symbols for GLIS3 Gene

  • ZNF515

Summaries for GLIS3 Gene

Entrez Gene Summary for GLIS3 Gene

  • This gene is a member of the GLI-similar zinc finger protein family and encodes a nuclear protein with five C2H2-type zinc finger domains. This protein functions as both a repressor and activator of transcription and is specifically involved in the development of pancreatic beta cells, the thyroid, eye, liver and kidney. Mutations in this gene have been associated with neonatal diabetes and congenital hypothyroidism (NDH). Alternatively spliced variants that encode different protein isoforms have been described but the full-length nature of only two have been determined. [provided by RefSeq, Jul 2008]

GeneCards Summary for GLIS3 Gene

GLIS3 (GLIS Family Zinc Finger 3) is a Protein Coding gene. Diseases associated with GLIS3 include Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism and Congenital Hypothyroidism. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding. An important paralog of this gene is GLIS1.

UniProtKB/Swiss-Prot for GLIS3 Gene

  • Acts as both a repressor and activator of transcription. Binds to the consensus sequence 5-GACCACCCAC-3 (By similarity).

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GLIS3 Gene

Genomics for GLIS3 Gene

Regulatory Elements for GLIS3 Gene

Enhancers for GLIS3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09G004291 1.9 FANTOM5 Ensembl ENCODE dbSUPER 22.8 +51.2 51175 12.0 PKNOX1 ARID4B SIN3A BRCA1 ZNF2 ZNF48 YY1 GLIS2 GATA2 FOS GLIS3 MTND4P14 ENSG00000228322 PLPP6 GC09M004258
GH09G004306 1 ENCODE dbSUPER 17.8 +41.8 41770 0.9 TEAD1 HLF MAX CEBPB CEBPG FEZF1 RAD21 ZNF644 ATF2 YY1 GLIS3 ENSG00000228322
GH09G004305 0.9 ENCODE 19.6 +43.1 43057 0.2 ELF3 FOXA2 RAD21 YY1 RARA CEBPB NR2F2 NFIL3 CEBPA RCOR2 GLIS3 ENSG00000228322
GH09G004303 0.8 ENCODE dbSUPER 19.7 +45.1 45109 0.1 JUND HNF4A RAD21 YY1 GLIS3 ENSG00000228322
GH09G004324 0.6 ENCODE 11.2 +23.7 23697 0.2 STAT1 JUND JUN NFE2 FOS NFE2L2 GLIS3 ENSG00000228322
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GLIS3 on UCSC Golden Path with GeneCards custom track

Genomic Location for GLIS3 Gene

Chromosome:
9
Start:
3,824,127 bp from pter
End:
4,348,392 bp from pter
Size:
524,266 bases
Orientation:
Minus strand

Genomic View for GLIS3 Gene

Genes around GLIS3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GLIS3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GLIS3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GLIS3 Gene

Proteins for GLIS3 Gene

  • Protein details for GLIS3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NEA6-GLIS3_HUMAN
    Recommended name:
    Zinc finger protein GLIS3
    Protein Accession:
    Q8NEA6
    Secondary Accessions:
    • B1AL19
    • Q1PHK5

    Protein attributes for GLIS3 Gene

    Size:
    775 amino acids
    Molecular mass:
    83636 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for GLIS3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GLIS3 Gene

Post-translational modifications for GLIS3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for GLIS3 Gene

Domains & Families for GLIS3 Gene

Gene Families for GLIS3 Gene

Protein Domains for GLIS3 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q8NEA6

UniProtKB/Swiss-Prot:

GLIS3_HUMAN :
  • Belongs to the GLI C2H2-type zinc-finger protein family.
Family:
  • Belongs to the GLI C2H2-type zinc-finger protein family.
genes like me logo Genes that share domains with GLIS3: view

Function for GLIS3 Gene

Molecular function for GLIS3 Gene

UniProtKB/Swiss-Prot Function:
Acts as both a repressor and activator of transcription. Binds to the consensus sequence 5-GACCACCCAC-3 (By similarity).

Gene Ontology (GO) - Molecular Function for GLIS3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with GLIS3: view
genes like me logo Genes that share phenotypes with GLIS3: view

Human Phenotype Ontology for GLIS3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GLIS3 Gene

MGI Knock Outs for GLIS3:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for GLIS3 Gene

Localization for GLIS3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GLIS3 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GLIS3 gene
Compartment Confidence
nucleus 5
cytosol 2
golgi apparatus 2

Gene Ontology (GO) - Cellular Components for GLIS3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,ISS --
genes like me logo Genes that share ontologies with GLIS3: view

Pathways & Interactions for GLIS3 Gene

SuperPathways for GLIS3 Gene

No Data Available

SIGNOR curated interactions for GLIS3 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for GLIS3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter ISS --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription from RNA polymerase II promoter IEA --
GO:0006366 transcription from RNA polymerase II promoter ISS --
genes like me logo Genes that share ontologies with GLIS3: view

No data available for Pathways by source for GLIS3 Gene

Drugs & Compounds for GLIS3 Gene

No Compound Related Data Available

Transcripts for GLIS3 Gene

Unigene Clusters for GLIS3 Gene

GLIS family zinc finger 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for GLIS3 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b
SP1: -
SP2:
SP3:
SP4:

Relevant External Links for GLIS3 Gene

GeneLoc Exon Structure for
GLIS3
ECgene alternative splicing isoforms for
GLIS3

Expression for GLIS3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GLIS3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for GLIS3 Gene

This gene is overexpressed in Plasma (68.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for GLIS3 Gene



Protein tissue co-expression partners for GLIS3 Gene

NURSA nuclear receptor signaling pathways regulating expression of GLIS3 Gene:

GLIS3

SOURCE GeneReport for Unigene cluster for GLIS3 Gene:

Hs.162125

mRNA Expression by UniProt/SwissProt for GLIS3 Gene:

Q8NEA6-GLIS3_HUMAN
Tissue specificity: In the adult, expressed at high levels in the kidney and at lower levels in the brain, skeletal muscle, pancreas, liver, lung, thymus and ovary.

Evidence on tissue expression from TISSUES for GLIS3 Gene

  • Pancreas(2.5)
  • Thyroid gland(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GLIS3 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • urinary
Organs:
Head and neck:
  • brain
  • ear
  • eye
  • head
  • hypothalamus
  • mouth
  • neck
  • pituitary gland
  • thyroid
Thorax:
  • heart
  • lung
Abdomen:
  • abdominal wall
  • biliary tract
  • gallbladder
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
Pelvis:
  • uterus
General:
  • blood
  • blood vessel
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
genes like me logo Genes that share expression patterns with GLIS3: view

Primer Products

No data available for mRNA differential expression in normal tissues for GLIS3 Gene

Orthologs for GLIS3 Gene

This gene was present in the common ancestor of animals.

Orthologs for GLIS3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GLIS3 34 35
  • 98.67 (n)
cow
(Bos Taurus)
Mammalia GLIS3 34 35
  • 87.8 (n)
dog
(Canis familiaris)
Mammalia GLIS3 34 35
  • 87.6 (n)
mouse
(Mus musculus)
Mammalia Glis3 34 16 35
  • 84.34 (n)
rat
(Rattus norvegicus)
Mammalia Glis3 34
  • 84.23 (n)
oppossum
(Monodelphis domestica)
Mammalia GLIS3 35
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GLIS3 35
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves GLIS3 34 35
  • 69.55 (n)
lizard
(Anolis carolinensis)
Reptilia GLIS3 35
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia glis3 34
  • 68.49 (n)
zebrafish
(Danio rerio)
Actinopterygii glis3 34 35
  • 60.63 (n)
fruit fly
(Drosophila melanogaster)
Insecta lmd 35
  • 25 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ztf-14 35
  • 25 (a)
ManyToMany
tra-1 35
  • 14 (a)
ManyToMany
Species where no ortholog for GLIS3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GLIS3 Gene

ENSEMBL:
Gene Tree for GLIS3 (if available)
TreeFam:
Gene Tree for GLIS3 (if available)

Paralogs for GLIS3 Gene

Variants for GLIS3 Gene

Sequence variations from dbSNP and Humsavar for GLIS3 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs868197660 Pathogenic 4,117,797(+) AGAGT(A/G)GACTC nc-transcript-variant, reference, missense
rs869320723 Pathogenic 3,856,143(-) CCCCC(-/C)GGAGA reference, frameshift-variant
rs879255608 Pathogenic 4,117,870(-) ACTTG(C/G)TTCTG nc-transcript-variant, reference, missense
rs879255609 Pathogenic 4,118,546(-) CGATG(-/G)CATCG nc-transcript-variant, reference, frameshift-variant
rs10116901 Likely benign 3,826,440(+) CCTGG(C/G/T)GTGCA utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for GLIS3 Gene

Variant ID Type Subtype PubMed ID
dgv12479n54 CNV loss 21841781
dgv1433e214 CNV loss 21293372
dgv7379n100 CNV loss 25217958
dgv7380n100 CNV loss 25217958
esv2105371 CNV deletion 18987734
esv2218450 CNV deletion 18987734
esv22225 CNV loss 19812545
esv2423311 CNV insertion 19546169
esv2442988 CNV deletion 19546169
esv2657927 CNV deletion 23128226
esv2662838 CNV deletion 23128226
esv2666704 CNV deletion 23128226
esv2672805 CNV deletion 23128226
esv2673095 CNV deletion 23128226
esv2738148 CNV deletion 23290073
esv275424 CNV gain+loss 21479260
esv2759658 CNV loss 17122850
esv2762784 CNV loss 21179565
esv27658 CNV loss 19812545
esv3304383 CNV mobile element insertion 20981092
esv3308529 CNV mobile element insertion 20981092
esv3340916 CNV insertion 20981092
esv3372991 CNV insertion 20981092
esv3413495 CNV insertion 20981092
esv3544447 CNV deletion 23714750
esv3573085 CNV loss 25503493
esv3619320 CNV loss 21293372
esv3619322 CNV loss 21293372
esv3619324 CNV loss 21293372
esv3619326 CNV loss 21293372
esv3619328 CNV loss 21293372
esv3619329 CNV loss 21293372
esv3619330 CNV loss 21293372
esv3619332 CNV loss 21293372
esv3891528 CNV gain 25118596
nsv1016929 CNV gain 25217958
nsv1021184 CNV gain 25217958
nsv1023271 CNV gain 25217958
nsv1023363 CNV gain 25217958
nsv1028973 CNV loss 25217958
nsv1124396 CNV deletion 24896259
nsv416336 CNV deletion 16902084
nsv438089 CNV loss 16468122
nsv474878 CNV novel sequence insertion 20440878
nsv517705 CNV loss 19592680
nsv518476 CNV loss 19592680
nsv519359 CNV loss 19592680
nsv520350 CNV gain+loss 19592680
nsv524574 CNV gain 19592680
nsv528551 CNV loss 19592680
nsv613149 CNV loss 21841781
nsv613150 CNV loss 21841781
nsv613153 CNV loss 21841781
nsv613154 CNV loss 21841781
nsv613155 CNV loss 21841781
nsv613156 CNV loss 21841781
nsv6458 CNV insertion 18451855

Variation tolerance for GLIS3 Gene

Residual Variation Intolerance Score: 80.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.42; 71.27% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GLIS3 Gene

Human Gene Mutation Database (HGMD)
GLIS3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GLIS3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GLIS3 Gene

Disorders for GLIS3 Gene

MalaCards: The human disease database

(5) MalaCards diseases for GLIS3 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
diabetes mellitus, neonatal, with congenital hypothyroidism
  • neonatal diabetes mellitus with congenital hypothyroidism
congenital hypothyroidism
  • cretinism
hypothyroidism
  • thyroid deficiency
neonatal diabetes mellitus
  • diabetes mellitus syndrome in newborn infant
diabetes mellitus, permanent neonatal
  • diabetes, permanent neonatal
- elite association - COSMIC cancer census association via MalaCards
Search GLIS3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GLIS3_HUMAN
  • Diabetes mellitus, neonatal, with congenital hypothyroidism (NDH) [MIM:610199]: A syndrome of neonatal diabetes syndrome associated with congenital hypothyroidism, congenital glaucoma, hepatic fibrosis and polycystic kidneys. {ECO:0000269 PubMed:16715098, ECO:0000269 PubMed:21139041}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for GLIS3

Genetic Association Database (GAD)
GLIS3
Human Genome Epidemiology (HuGE) Navigator
GLIS3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GLIS3
genes like me logo Genes that share disorders with GLIS3: view

No data available for Genatlas for GLIS3 Gene

Publications for GLIS3 Gene

  1. GLIS3, a novel member of the GLIS subfamily of Kruppel-like zinc finger proteins with repressor and activation functions. (PMID: 14500813) Kim Y.-S. … Jetten A.M. (Nucleic Acids Res. 2003) 2 3 4 64
  2. Meta-analysis of genome-wide association studies identifies eight new loci for type 2 diabetes in east Asians. (PMID: 22158537) Cho Y.S. … Seielstad M. (Nat. Genet. 2012) 3 46 64
  3. New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. (PMID: 20081858) Dupuis J. … Barroso I. (Nat. Genet. 2010) 3 46 64
  4. In silico replication of the genome-wide association results of the Type 1 Diabetes Genetics Consortium. (PMID: 20378605) Qu H.Q. … Polychronakos C. (Hum. Mol. Genet. 2010) 3 46 64
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64

Products for GLIS3 Gene

  • Addgene plasmids for GLIS3

Sources for GLIS3 Gene

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