Property Summary

NCBI Gene PubMed Count 32
PubMed Score 23.39
PubTator Score 23.72

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (6)

Disease Target Count P-value
glioblastoma multiforme 347 1.49706396598713E-18
posterior fossa group A ependymoma 1511 1.56546418263531E-17
pituitary cancer 1972 1.32241857401974E-9
medulloblastoma, large-cell 6234 2.84678559921226E-7
cystic fibrosis 1670 3.50431017570201E-5
oligodendroglioma 2849 8.19982658680079E-5
pilocytic astrocytoma 3086 2.53913242588583E-4
group 3 medulloblastoma 2254 5.86267917045266E-4
Pick disease 1893 0.00110740277553863
pediatric high grade glioma 2712 0.00121614580624666
astrocytic glioma 2241 0.00242798227914791
atypical teratoid / rhabdoid tumor 4369 0.00275723951589845
subependymal giant cell astrocytoma 2287 0.0161280580100521
ulcerative colitis 2087 0.0267834196174377
chronic rhinosinusitis 512 0.0296389348707213
urothelial carcinoma 318 0.0303973082442801
ovarian cancer 8492 0.048831800977495
facioscapulohumeral dystrophy 286 0.0492772199398019
Disease Target Count Z-score Confidence
Congenital hypothyroidism 20 0.0 4.0
Disease Target Count Z-score Confidence
diabetes mellitus 1663 3.768 1.9
Hypothyroidism 89 3.626 1.8

Expression

  Differential Expression (18)

Synonym

Accession Q8NEA6 B1AL19 Q1PHK5
Symbols NDH
ZNF515

Gene

  Ortholog (8)

Species Source
Chimp OMA EggNOG
Mouse OMA EggNOG Inparanoid
Rat OMA EggNOG
Dog OMA EggNOG Inparanoid
Horse OMA EggNOG Inparanoid
Opossum OMA EggNOG Inparanoid
Anole lizard OMA Inparanoid
Xenopus OMA EggNOG Inparanoid

Gene RIF (17)

PMID Text
26259131 New findings with GLIS3 phenotype including craniosynostosis, hiatus hernia, atrial septal defect, splenic cyst, and choanal atresia and confirm further cases with sensorineural deafness and exocrine pancreatic insufficiency.
26147758 It may play a role in a number of physiological processes controlled by Glis3.
25122662 Whole exome sequencing followed by immunohistochemistry of fibrolamellar hepatocellular carcinoma cell lines and tumors showed two structural variants resulting in fusion transcripts: DNAJB1-PRKCA and CLPTM1L-GLIS3.
23856252 analysis of a GLIS3 variant that may have a role in resistance to Japanese type 1 diabetes
23737756 The present data suggest that altered expression of the candidate gene GLIS3 may contribute to both type 1 and 2 type diabetes by favouring beta cell apoptosis
21949744 Alleles of single nucleotide polymorphisms in GLIS3 and ADCY5 may confer risk of type 2 diabetes.
21747906 the associations of GLIS3-rs7034200 and CRY2-rs11605924 with fasting glucose, beta cell function, and type 2 diabetes
21543335 Glis3 interacts with Suppressor of Fused (SUFU)
21515849 Children and adolescents carrying glucose-raising alleles of G6PC2, MTNR1B, GCK, and GLIS3 also showed reduced beta-cell function, as indicated by homeostasis model assessment of beta-cell function.
20419449 Observational study of gene-disease association. (HuGE Navigator)
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AA Sequence

MMVQRLGLISPPASQVSTACNQISPSLQRAMNAANLNIPPSDTRSLISRESLASTTLSLTESQSASSMKQ      1 - 70
EWSQGYRALPSLSNHGSQNGLDLGDLLSLPPGTSMSSNSVSNSLPSYLFGTESSHSPYPSPRHSSTRSHS     71 - 140
ARSKKRALSLSPLSDGIGIDFNTIIRTSPTSLVAYINGSRASPANLSPQPEVYGHFLGVRGSCIPQPRPV    141 - 210
PGSQKGVLVAPGGLALPAYGEDGALEHERMQQLEHGGLQPGLVNHMVVQHGLPGPDSQSAGLFKTERLEE    211 - 280
FPGSTVDLPPAPPLPPLPPPPGPPPPYHAHAHLHHPELGPHAQQLALPQATLDDDGEMDGIGGKHCCRWI    281 - 350
DCSALYDQQEELVRHIEKVHIDQRKGEDFTCFWAGCPRRYKPFNARYKLLIHMRVHSGEKPNKCTFEGCE    351 - 420
KAFSRLENLKIHLRSHTGEKPYLCQHPGCQKAFSNSSDRAKHQRTHLDTKPYACQIPGCTKRYTDPSSLR    421 - 490
KHVKAHSSKEQQARKKLRSSTELHPDLLTDCLTVQSLQPATSPRDAAAEGTVGRSPGPGPDLYSAPIFSS    491 - 560
NYSSRSGTAAGAVPPPHPVSHPSPGHNVQGSPHNPSSQLPPLTAVDAGAERFAPSAPSPHHISPRRVPAP    561 - 630
SSILQRTQPPYTQQPSGSHLKSYQPETNSSFQPNGIHVHGFYGQLQKFCPPHYPDSQRIVPPVSSCSVVP    631 - 700
SFEDCLVPTSMGQASFDVFHRAFSTHSGITVYDLPSSSSSLFGESLRSGAEDATFLQISTVDRCPSQLSS    701 - 770
VYTEG                                                                     771 - 775
//

Text Mined References (34)

PMID Year Title
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
26259131 2015 Expanding the Clinical Spectrum Associated With GLIS3 Mutations.
26147758 2015 HECT E3 Ubiquitin Ligase Itch Functions as a Novel Negative Regulator of Gli-Similar 3 (Glis3) Transcriptional Activity.
25187374 2015 Genome-wide association meta-analysis identifies novel variants associated with fasting plasma glucose in East Asians.
25122662 2015 Genomic analysis of fibrolamellar hepatocellular carcinoma.
24554482 2014 Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384.
24509480 2014 Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.
23856252 2013 A low-frequency GLIS3 variant associated with resistance to Japanese type 1 diabetes.
23737756 2013 GLIS3, a susceptibility gene for type 1 and type 2 diabetes, modulates pancreatic beta cell apoptosis via regulation of a splice variant of the BH3-only protein Bim.
23562540 2013 GWAS of cerebrospinal fluid tau levels identifies risk variants for Alzheimer's disease.
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