Gene Gene information from NCBI Gene database.
Entrez ID 169792
Gene name GLIS family zinc finger 3
Gene symbol GLIS3
Synonyms (NCBI Gene)
NDHZNF515
Chromosome 9
Chromosome location 9p24.2
Summary 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 develo
SNPs SNP information provided by dbSNP.
7
SNP ID Visualize variation Clinical significance Consequence
rs114838275 G>A Conflicting-interpretations-of-pathogenicity Coding sequence variant, non coding transcript variant, missense variant
rs148168366 G>A,C Conflicting-interpretations-of-pathogenicity, likely-benign 5 prime UTR variant, intron variant, genic upstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs868197660 G>A Pathogenic Coding sequence variant, missense variant, non coding transcript variant
rs869320723 ->G Pathogenic Coding sequence variant, frameshift variant, genic downstream transcript variant
rs879255608 G>C Pathogenic Coding sequence variant, missense variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
232
miRTarBase ID miRNA Experiments Reference
MIRT657782 hsa-miR-6734-3p HITS-CLIP 23824327
MIRT657781 hsa-miR-3667-3p HITS-CLIP 23824327
MIRT657779 hsa-miR-138-2-3p HITS-CLIP 23824327
MIRT657780 hsa-miR-3655 HITS-CLIP 23824327
MIRT657778 hsa-miR-3909 HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II ISS
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IEA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding ISS 14500813, 18263616
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610192 28510 ENSG00000107249
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8NEA6
Protein name Zinc finger protein GLIS3 (GLI-similar 3) (Zinc finger protein 515)
Protein function Acts both as a repressor and an activator of transcription. Binds to the consensus sequence 5'-GACCACCCAC-3' (By similarity).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00096 zf-C2H2 413 436 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 472 496 Zinc finger, C2H2 type Domain
Tissue specificity 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. {ECO:0000269|PubMed:14500813}.
Sequence
MMVQRLGLISPPASQVSTACNQISPSLQRAMNAANLNIPPSDTRSLISRESLASTTLSLT
ESQSASSMKQEWSQGYRALPSLSNHGSQNGLDLGDLLSLPPGTSMSSNSVSNSLPSYLFG
TESSHSPYPSPRHSSTRSHSARSKKRALSLSPLSDGIGIDFNTIIRTSPTSLVAYINGSR
ASPANLSPQPEVYGHFLGVRGSCIPQPRPVPGSQKGVLVAPGGLALPAYGEDGALEHERM
QQLEHGGLQPGLVNHMVVQHGLPGPDSQSAGLFKTERLEEFPGSTVDLPPAPPLPPLPPP
PGPPPPYHAHAHLHHPELGPHAQQLALPQATLDDDGEMDGIGGKHCCRWIDCSALYDQQE
ELVRHIEKVHIDQRKGEDFTCFWAGCPRRYKPFNARYKLLIHMRVHSGEKPNKCTFEGCE
KAFSRLENLKIHLRSH
TGEKPYLCQHPGCQKAFSNSSDRAKHQRTHLDTKPYACQIPGCT
KRYTDPSSLRKHVKAH
SSKEQQARKKLRSSTELHPDLLTDCLTVQSLQPATSPRDAAAEG
TVGRSPGPGPDLYSAPIFSSNYSSRSGTAAGAVPPPHPVSHPSPGHNVQGSPHNPSSQLP
PLTAVDAGAERFAPSAPSPHHISPRRVPAPSSILQRTQPPYTQQPSGSHLKSYQPETNSS
FQPNGIHVHGFYGQLQKFCPPHYPDSQRIVPPVSSCSVVPSFEDCLVPTSMGQASFDVFH
RAFSTHSGITVYDLPSSSSSLFGESLRSGAEDATFLQISTVDRCPSQLSSVYTEG
Sequence length 775
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
428
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
GLIS3-related disorder Likely pathogenic rs765684343 RCV003894070
Neonatal diabetes mellitus with congenital hypothyroidism Pathogenic; Likely pathogenic rs869320723, rs879255608, rs868197660, rs879255609, rs773807925, rs765684343, rs1586744173 RCV000001388
RCV000239543
RCV000239596
RCV000239491
RCV003228657
RCV005051417
RCV000826113
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs80030970 RCV005900570
Congenital aniridia Conflicting classifications of pathogenicity rs150310830 RCV005419889
Congenital hypothyroidism Uncertain significance rs752946704 RCV006444046
Diabetes mellitus Benign rs148199056, rs6415788 RCV002226664
RCV002226665
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenoma Associate 30648929, 31273314
Anemia Associate 33935973
Anorchia Associate 28253873
Body Dysmorphic Disorders Associate 28253873
Bone Diseases Metabolic Associate 28253873
Chemical and Drug Induced Liver Injury Associate 26259131
Choanal Atresia Associate 26259131, 28253873
Cholestasis Associate 33935973
Cone Rod Dystrophies Associate 16909397
Congenital Hypothyroidism Associate 27148679, 28253873, 33935973, 34093443, 34200080