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Aliases for GLIS3 Gene

Aliases for GLIS3 Gene

  • GLIS Family Zinc Finger 3 2 3
  • Zinc Finger Protein 515 2 3 4
  • ZNF515 3 4 6
  • GLI-Similar 3 3 4
  • Zinc Finger Protein GLIS3 3
  • OK/KNS-Cl.4 3

External Ids for GLIS3 Gene

Previous 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 sequence-specific DNA binding transcription factor activity. An important paralog of this gene is ZIC4.

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 Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GLIS3 Gene

Genomics for GLIS3 Gene

Genomic Location for GLIS3 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for GLIS3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GLIS3 Gene

Regulatory Elements 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

Proteomics data for GLIS3 Gene at MOPED

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 for GLIS3 Gene

Gene Families for GLIS3 Gene

HGNC:
  • ZNF :Zinc fingers, C2H2-type

Protein Domains for GLIS3 Gene

UniProtKB/Swiss-Prot:

GLIS3_HUMAN
Family:
  • Belongs to the GLI C2H2-type zinc-finger protein family.:
    • Q8NEA6
Similarity:
  • Contains 5 C2H2-type zinc fingers.:
    • Q8NEA6
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:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding IEA --
GO:0001077 RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription IEA --
GO:0001078 RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription IEA --
GO:0003677 DNA binding --
GO:0003700 sequence-specific DNA binding transcription factor activity --
genes like me logo Genes that share ontologies with GLIS3: view
genes like me logo Genes that share phenotypes with GLIS3: view

Animal Models for GLIS3 Gene

MGI Knock Outs for GLIS3:

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

Localization for GLIS3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GLIS3 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GLIS3 Gene COMPARTMENTS Subcellular localization image for GLIS3 gene
Compartment Confidence
nucleus 4
cytosol 2

Gene Ontology (GO) - Cellular Components for GLIS3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS --
GO:0005654 nucleoplasm IDA --
GO:0005794 Golgi apparatus IDA --
genes like me logo Genes that share ontologies with GLIS3: view

Pathways for GLIS3 Gene

SuperPathways for GLIS3 Gene

No Data Available

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:0006366 transcription from RNA polymerase II promoter ISS --
GO:0045944 positive regulation of 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

Transcripts for GLIS3 Gene

Unigene Clusters for GLIS3 Gene

GLIS family zinc finger 3:
Representative Sequences:

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 for GLIS3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for GLIS3 Gene

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.
genes like me logo Genes that share expressions with GLIS3: view

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 36
  • 98.67 (n)
  • 98.28 (a)
GLIS3 37
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GLIS3 36
  • 87.8 (n)
  • 88.36 (a)
GLIS3 37
  • 78 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GLIS3 36
  • 87.6 (n)
  • 87.31 (a)
GLIS3 37
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Glis3 36
  • 84.34 (n)
  • 84.16 (a)
Glis3 16
Glis3 37
  • 84 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GLIS3 37
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GLIS3 37
  • 81 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Glis3 36
  • 84.23 (n)
  • 84.05 (a)
chicken
(Gallus gallus)
Aves GLIS3 36
  • 69.55 (n)
  • 65.52 (a)
GLIS3 37
  • 65 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GLIS3 37
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia glis3 36
  • 68.49 (n)
  • 69.54 (a)
zebrafish
(Danio rerio)
Actinopterygii glis3 36
  • 60.63 (n)
  • 56.62 (a)
glis3 37
  • 45 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta lmd 37
  • 25 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea tra-1 37
  • 14 (a)
ManyToMany
ztf-14 37
  • 25 (a)
ManyToMany
Species with no ortholog for GLIS3:
  • 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

Paralogs for GLIS3 Gene

genes like me logo Genes that share paralogs with GLIS3: view

Variants for GLIS3 Gene

Sequence variations from dbSNP and Humsavar for GLIS3 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type MAF
rs3025 -- 3,825,381(+) AGTTT(C/G)GTTAG utr-variant-3-prime
rs380295 -- 3,930,937(-) TTTGC(A/G)TGCTA intron-variant
rs380985 -- 3,928,968(+) CACTT(A/C)CAAGG intron-variant
rs399007 -- 3,915,007(-) GACAT(A/G)CATTG intron-variant
rs400136 -- 3,932,133(+) CTATA(G/T)CAGCT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv892097 CNV Gain 21882294
nsv892098 CNV Gain 21882294
esv2672805 CNV Deletion 23128226
nsv528551 CNV Loss 19592680
nsv892099 CNV Gain 21882294
esv2218450 CNV Deletion 18987734
esv2423311 CNV Insertion 19546169
nsv892100 CNV Gain 21882294
nsv892101 CNV Gain 21882294
nsv892102 CNV Gain 21882294
esv2738148 CNV Deletion 23290073
nsv892103 CNV Gain 21882294
nsv518476 CNV Loss 19592680
esv2673095 CNV Deletion 23128226
esv2666704 CNV Deletion 23128226
dgv2275e1 CNV Complex 17122850
nsv438089 CNV Loss 16468122
esv2662838 CNV Deletion 23128226
nsv892104 CNV Gain 21882294
nsv892105 CNV Gain 21882294
nsv6458 CNV Insertion 18451855
nsv519359 CNV Loss 19592680
nsv416336 CNV Loss 16902084
esv2105371 CNV Deletion 18987734
esv2442988 CNV Deletion 19546169
esv275424 CNV Gain+Loss 21479260
nsv892106 CNV Gain 21882294
nsv892107 CNV Gain 21882294
nsv517705 CNV Loss 19592680
nsv892108 CNV Gain 21882294
esv2657927 CNV Deletion 23128226
nsv520350 CNV Gain+Loss 19592680
esv22225 CNV Loss 19812545
nsv892109 CNV Gain 21882294
nsv524574 CNV Gain 19592680
nsv892110 CNV Gain 21882294
esv272802 CNV Insertion 20981092
esv268661 CNV Insertion 20981092
nsv892111 CNV Gain 21882294
esv27658 CNV Loss 19812545
nsv892112 CNV Gain 21882294

Relevant External Links for GLIS3 Gene

HapMap Linkage Disequilibrium report
GLIS3
Human Gene Mutation Database (HGMD)
GLIS3

Disorders for GLIS3 Gene

(1) OMIM Diseases for GLIS3 Gene (610192)

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
genes like me logo Genes that share disorders with GLIS3: view

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
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  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 49
  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 49
  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 49

Products for GLIS3 Gene

Sources for GLIS3 Gene

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