GLIS1
geneOn this page
Also known as FLJ36155
Summary
GLIS1 (GLIS family zinc finger 1, HGNC:29525) is a protein-coding gene on chromosome 1p32.3, encoding Zinc finger protein GLIS1 (Q8NBF1). Acts both as a repressor and an activator of transcription.
GLIS1 is a GLI (MIM 165220)-related Kruppel-like zinc finger protein that functions as an activator and repressor of transcription (Kim et al., 2002 [PubMed 12042312]).
Source: NCBI Gene 148979 — RefSeq curated summary.
At a glance
- Gene–disease (curated): glaucoma (Limited, GenCC)
- GWAS associations: 16
- Clinical variants (ClinVar): 131 total
- MANE Select transcript:
NM_001367484
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:29525 |
| Approved symbol | GLIS1 |
| Name | GLIS family zinc finger 1 |
| Location | 1p32.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ36155 |
| Ensembl gene | ENSG00000174332 |
| Ensembl biotype | protein_coding |
| OMIM | 610378 |
| Entrez | 148979 |
Gene structure
Transcript identifiers
Ensembl transcripts: 4 — 4 protein_coding
ENST00000312233, ENST00000628545, ENST00000863985, ENST00000954872
RefSeq mRNA: 5 — MANE Select: NM_001367484
NM_001367484, NM_001390836, NM_001390837, NM_001390838, NM_147193
CCDS: CCDS582, CCDS90959
Canonical transcript exons
ENST00000628545 — 11 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001190051 | 53509120 | 53509287 |
| ENSE00001190058 | 53509849 | 53510027 |
| ENSE00001190061 | 53514625 | 53514781 |
| ENSE00001190065 | 53520634 | 53520766 |
| ENSE00001190082 | 53529791 | 53529952 |
| ENSE00001626089 | 53524777 | 53524887 |
| ENSE00003768595 | 53506239 | 53506776 |
| ENSE00003769919 | 53594108 | 53594990 |
| ENSE00003773046 | 53600101 | 53600278 |
| ENSE00003774329 | 53737806 | 53738106 |
| ENSE00003931491 | 53739105 | 53739164 |
Expression profiles
Bgee: expression breadth ubiquitous, 134 present calls, max score 78.32.
FANTOM5 (CAGE): breadth broad, TPM avg 2.4427 / max 109.7466, expressed in 546 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 12423 | 1.8867 | 498 |
| 12421 | 0.2249 | 91 |
| 12424 | 0.1730 | 78 |
| 12422 | 0.1204 | 69 |
| 12417 | 0.0377 | 15 |
Top tissues by expression
229 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| stromal cell of endometrium | CL:0002255 | 78.32 | gold quality |
| seminal vesicle | UBERON:0000998 | 77.13 | gold quality |
| prostate gland | UBERON:0002367 | 72.44 | gold quality |
| endocervix | UBERON:0000458 | 71.08 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 70.62 | gold quality |
| primary visual cortex | UBERON:0002436 | 69.86 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 69.28 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 68.17 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 67.90 | gold quality |
| cerebellar cortex | UBERON:0002129 | 67.85 | gold quality |
| ectocervix | UBERON:0012249 | 67.83 | gold quality |
| mucosa of stomach | UBERON:0001199 | 67.75 | gold quality |
| cerebellum | UBERON:0002037 | 66.73 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 66.38 | gold quality |
| vagina | UBERON:0000996 | 66.29 | gold quality |
| urethra | UBERON:0000057 | 66.14 | silver quality |
| right coronary artery | UBERON:0001625 | 65.09 | gold quality |
| right frontal lobe | UBERON:0002810 | 64.56 | gold quality |
| cauda epididymis | UBERON:0004360 | 64.33 | silver quality |
| uterine cervix | UBERON:0000002 | 64.23 | gold quality |
| skin of leg | UBERON:0001511 | 64.02 | gold quality |
| kidney | UBERON:0002113 | 63.63 | gold quality |
| tibial artery | UBERON:0007610 | 63.13 | gold quality |
| popliteal artery | UBERON:0002250 | 63.12 | gold quality |
| urinary bladder | UBERON:0001255 | 62.61 | gold quality |
| amniotic fluid | UBERON:0000173 | 62.57 | gold quality |
| zone of skin | UBERON:0000014 | 62.42 | gold quality |
| cortex of kidney | UBERON:0001225 | 62.41 | gold quality |
| occipital lobe | UBERON:0002021 | 62.35 | gold quality |
| penis | UBERON:0000989 | 61.94 | silver quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 1.92 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
1 targets.
| Target | Regulation |
|---|---|
| WNT5A | Activation |
JASPAR motifs
| Motif | Name | Family |
|---|---|---|
| MA0735.1 | GLIS1 | More than 3 adjacent zinc fingers |
| MA0735.2 | GLIS1 | More than 3 adjacent zinc fingers |
JASPAR matrix evidence (PMIDs): PMID:22391303
Upstream regulators (CollecTRI, top): GLI1
miRNA regulators (miRDB)
41 targeting GLIS1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-4789-5P | 99.98 | 70.76 | 2721 |
| HSA-MIR-548AA | 99.96 | 70.64 | 3753 |
| HSA-MIR-548AP-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-548T-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-6753-3P | 99.93 | 66.57 | 637 |
| HSA-MIR-7107-3P | 99.93 | 66.73 | 627 |
| HSA-MIR-145-5P | 99.92 | 71.13 | 1836 |
| HSA-MIR-5195-3P | 99.92 | 70.92 | 1877 |
| HSA-MIR-5582-3P | 99.86 | 72.48 | 4221 |
| HSA-MIR-221-5P | 99.86 | 65.45 | 1052 |
| HSA-MIR-8073 | 99.86 | 65.21 | 1118 |
| HSA-MIR-548AR-3P | 99.85 | 71.26 | 3889 |
| HSA-MIR-544A | 99.84 | 68.66 | 1965 |
| HSA-MIR-3180-5P | 99.82 | 69.12 | 2422 |
| HSA-MIR-4307 | 99.82 | 70.45 | 3374 |
| HSA-MIR-548AZ-3P | 99.82 | 70.56 | 3549 |
| HSA-MIR-548BC | 99.82 | 70.61 | 3524 |
| HSA-MIR-548E-3P | 99.82 | 70.59 | 3514 |
| HSA-MIR-548F-3P | 99.82 | 70.59 | 3540 |
| HSA-MIR-6756-5P | 99.82 | 67.97 | 2466 |
| HSA-MIR-4679 | 99.76 | 69.19 | 1229 |
| HSA-MIR-548A-3P | 99.76 | 70.58 | 3524 |
| HSA-MIR-33A-3P | 99.70 | 70.27 | 3362 |
| HSA-MIR-6766-5P | 99.68 | 67.70 | 2325 |
| HSA-MIR-4328 | 99.57 | 71.06 | 4094 |
| HSA-MIR-17-3P | 99.55 | 66.77 | 1311 |
| HSA-MIR-1207-5P | 99.49 | 69.11 | 2983 |
| HSA-MIR-4677-3P | 99.49 | 67.91 | 1246 |
| HSA-MIR-578 | 99.46 | 68.36 | 1787 |
Literature-anchored findings (GeneRIF, showing 10)
- Transcriptional factor Glis1 is involved in the regulation of aberrant differentiation observed in psoriatic epidermis. (PMID:16417217)
- results therefore show that Glis1 effectively promotes the direct reprogramming of somatic cells during iPSC generation. (PMID:21654807)
- found that allele ‘A’ of rs797906 SNP increases the risk for late-onset Parkinson Disease in the Han Chinese population. (PMID:22759478)
- These results suggest that the hypoxic signaling pathway may play a pivotal role in regulating the reprogramming factor GLIS1, via non-canonical mechanisms involving partner transcription factor rather than by direct HIF transactivation. (PMID:24383088)
- GLIS1 is a susceptibility gene for mitral valve prolapse. (PMID:31112420)
- GLIS1, a novel hypoxia-inducible transcription factor, promotes breast cancer cell motility via activation of WNT5A. (PMID:32047936)
- Gene of the month: GLIS1-3. (PMID:32699115)
- Elevating microRNA-1-3p shuttled by cancer-associated fibroblasts-derived extracellular vesicles suppresses breast cancer progression and metastasis by inhibiting GLIS1. (PMID:33154575)
- GLIS1 in Cancer-Associated Fibroblasts Regulates the Migration and Invasion of Ovarian Cancer Cells. (PMID:35216340)
- Effect of GLIS1 on the Lymph Node Metastasis of Cervical Squamous Carcinoma Based on Transcriptome Analysis. (PMID:38157104)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | glis1b | ENSDARG00000027933 |
| mus_musculus | Glis1 | ENSMUSG00000034762 |
| rattus_norvegicus | Glis1 | ENSRNOG00000000138 |
Paralogs (14): ZIC2 (ENSG00000043355), ZXDC (ENSG00000070476), GLI2 (ENSG00000074047), GLI3 (ENSG00000106571), GLIS3 (ENSG00000107249), GLI1 (ENSG00000111087), GLIS2 (ENSG00000126603), AEBP2 (ENSG00000139154), ZIC5 (ENSG00000139800), ZIC1 (ENSG00000152977), ZIC3 (ENSG00000156925), ZIC4 (ENSG00000174963), ZXDA (ENSG00000198205), ZXDB (ENSG00000198455)
Protein
Protein identifiers
Zinc finger protein GLIS1 — Q8NBF1 (reviewed: Q8NBF1)
Alternative names: GLI-similar 1
All UniProt accessions (2): Q8NBF1, A0A0D9SEX9
UniProt curated annotations — full annotation on UniProt →
Function. Acts both as a repressor and an activator of transcription. Binds to the consensus sequence 5’-GACCACCCAC-3’. By controlling the expression of genes involved in cell differentiation inhibits the lineage commitment of multipotent cells. Prevents, for instance, the differentiation of multipotent mesenchymal cells into adipocyte and osteoblast.
Subunit / interactions. Interacts with KLF4. Interacts with POU5F1 and/or POU5F1B. Interacts with SOX2.
Subcellular location. Nucleus.
Similarity. Belongs to the GLI C2H2-type zinc-finger protein family.
RefSeq proteins (5): NP_001354413, NP_001377765, NP_001377766, NP_001377767, NP_671726 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR013087 | Znf_C2H2_type | Domain |
| IPR036236 | Znf_C2H2_sf | Homologous_superfamily |
| IPR043359 | GLI-like | Family |
| IPR056436 | Znf-C2H2_ZIC1-5/GLI1-3-like | Domain |
Pfam: PF00096, PF23561
UniProt features (15 total): zinc finger region 5, sequence variant 3, compositionally biased region 2, region of interest 2, chain 1, sequence conflict 1, short sequence motif 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8NBF1-F1 | 53.95 | 0.01 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 69 (showing top):
AACTGGA_MIR145, ACEVEDO_METHYLATED_IN_LIVER_CANCER_DN, GOCC_NUCLEAR_BODY, GSE13762_CTRL_VS_125_VITAMIND_DAY12_DC_UP, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, LIU_PROSTATE_CANCER_DN, MEISSNER_BRAIN_HCP_WITH_H3K4ME3_AND_H3K27ME3, GOBP_NEGATIVE_REGULATION_OF_TRANSCRIPTION_BY_RNA_POLYMERASE_II, GOBP_NEGATIVE_REGULATION_OF_NUCLEOBASE_CONTAINING_COMPOUND_METABOLIC_PROCESS, GOBP_POSITIVE_REGULATION_OF_TRANSCRIPTION_BY_RNA_POLYMERASE_II, GOMF_DNA_BINDING_TRANSCRIPTION_ACTIVATOR_ACTIVITY, ZWANG_TRANSIENTLY_UP_BY_2ND_EGF_PULSE_ONLY, GOMF_TRANSCRIPTION_REGULATOR_ACTIVITY, OVOL3_TARGET_GENES, SUPT16H_TARGET_GENES
GO Biological Process (8): negative regulation of transcription by RNA polymerase II (GO:0000122), regulation of transcription by RNA polymerase II (GO:0006357), cell differentiation (GO:0030154), positive regulation of transcription by RNA polymerase II (GO:0045944), osteoblast differentiation (GO:0001649), negative regulation of cell fate commitment (GO:0010454), fat cell differentiation (GO:0045444), positive regulation of DNA-templated transcription (GO:0045893)
GO Molecular Function (10): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA-binding transcription activator activity, RNA polymerase II-specific (GO:0001228), zinc ion binding (GO:0008270), sequence-specific double-stranded DNA binding (GO:1990837), RNA polymerase II transcription regulatory region sequence-specific DNA binding (GO:0000977), DNA-binding transcription repressor activity, RNA polymerase II-specific (GO:0001227), DNA binding (GO:0003677), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (1): nucleus (GO:0005634)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 4 |
| regulation of transcription by RNA polymerase II | 3 |
| transcription by RNA polymerase II | 3 |
| regulation of DNA-templated transcription | 2 |
| cell differentiation | 2 |
| DNA-binding transcription factor activity, RNA polymerase II-specific | 2 |
| negative regulation of DNA-templated transcription | 1 |
| cellular developmental process | 1 |
| positive regulation of DNA-templated transcription | 1 |
| ossification | 1 |
| regulation of cell fate commitment | 1 |
| cell fate commitment | 1 |
| negative regulation of cell differentiation | 1 |
| DNA-templated transcription | 1 |
| positive regulation of RNA biosynthetic process | 1 |
| cis-regulatory region sequence-specific DNA binding | 1 |
| chromatin | 1 |
| DNA-binding transcription factor activity | 1 |
| DNA-binding transcription activator activity | 1 |
| positive regulation of transcription by RNA polymerase II | 1 |
| transition metal ion binding | 1 |
| double-stranded DNA binding | 1 |
| sequence-specific DNA binding | 1 |
| transcription cis-regulatory region binding | 1 |
| negative regulation of transcription by RNA polymerase II | 1 |
| DNA-binding transcription repressor activity | 1 |
| nucleic acid binding | 1 |
| binding | 1 |
| cation binding | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
996 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| GLIS1 | SPRR1B | P22528 | 726 |
| GLIS1 | KLK7 | P49862 | 681 |
| GLIS1 | MYCL | P12524 | 678 |
| GLIS1 | NANOG | Q9H9S0 | 658 |
| GLIS1 | KLK6 | Q92876 | 614 |
| GLIS1 | KDM2B | Q8NHM5 | 575 |
| GLIS1 | POU5F1 | P31359 | 563 |
| GLIS1 | IVL | P07476 | 547 |
| GLIS1 | CAMK4 | Q16566 | 545 |
| GLIS1 | TGM1 | P22735 | 533 |
| GLIS1 | LIN28A | Q9H9Z2 | 528 |
| GLIS1 | SOX2 | P48431 | 527 |
| GLIS1 | KLF4 | P78338 | 523 |
| GLIS1 | MAP2K6 | P52564 | 504 |
| GLIS1 | SALL4 | Q9UJQ4 | 487 |
IntAct
21 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SPRR1A | GLIS1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZDHHC23 | GLIS1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| BMI1 | HMGB1P1 | psi-mi:“MI:0914”(association) | 0.350 |
| BMI1 | MEIS3P1 | psi-mi:“MI:0914”(association) | 0.350 |
| GLIS1 | AKT1 | psi-mi:“MI:2364”(proximity) | 0.270 |
| SMAD4 | GLIS1 | psi-mi:“MI:2364”(proximity) | 0.270 |
| GLIS1 | SMARCA4 | psi-mi:“MI:2364”(proximity) | 0.270 |
| SMARCA4 | GLIS1 | psi-mi:“MI:2364”(proximity) | 0.270 |
| GLIS1 | SPOP | psi-mi:“MI:2364”(proximity) | 0.270 |
| SPOP | GLIS1 | psi-mi:“MI:2364”(proximity) | 0.270 |
| GLIS1 | EGFR | psi-mi:“MI:2364”(proximity) | 0.270 |
| GLIS1 | PTPN11 | psi-mi:“MI:2364”(proximity) | 0.270 |
| GLIS1 | SPRR1A | psi-mi:“MI:0915”(physical association) | 0.000 |
| GLIS1 | ZDHHC23 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (17): GLIS1 (Affinity Capture-RNA), GLIS1 (FRET), SOX3 (FRET), TCF3 (FRET), ARNT (FRET), CDK6 (FRET), CDKN2A (FRET), LATS2 (FRET), MYC (FRET), RELA (FRET), TEAD2 (FRET), GLIS1 (FRET), GLIS1 (FRET), GLIS1 (Two-hybrid), ZDHHC23 (Two-hybrid)
ESM2 similar proteins: A1YF15, A2A5K6, A2A884, A2D4Z7, A5A763, F1QQA8, G3V893, O15062, O15090, O55170, P08151, P47806, P55198, P55878, P56693, Q00900, Q04888, Q3UHF7, Q5T1R4, Q62255, Q6DBW0, Q6XP49, Q6ZPI3, Q76IQ7, Q7TQG0, Q801E0, Q86V15, Q8BG87, Q8BX22, Q8IVH2, Q8K083, Q8NBF1, Q8R4Z4, Q91907, Q92766, Q96JN0, Q99LI5, Q99PV8, Q9C0K0, Q9CWL2
Diamond homologs: A0A5K4F1D0, A0JC51, A4FV57, O57311, O60481, O73689, O95409, P08151, P10070, P10071, P19538, P34708, P39768, P46684, P47806, P55878, P55879, Q0VGT2, Q15915, Q17308, Q5IS56, Q61467, Q61602, Q62520, Q62521, Q6DJQ6, Q6GR30, Q6XP49, Q6ZN18, Q7JNM3, Q7K0S9, Q7SXV2, Q7TQ40, Q8JJC0, Q8K1M4, Q8N9L1, Q8NBF1, Q8NEA6, Q8SV95, Q8VDL9
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| GLIS1 | “up-regulates quantity by expression” | WNT5A | “transcriptional regulation” |
| AP1 | “up-regulates quantity by expression” | GLIS1 | “transcriptional regulation” |
Disease & clinical
Clinical variants and AI predictions
ClinVar
131 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 113 |
| Likely benign | 4 |
| Benign | 6 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
3665 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:53509114:GCTCA:G | donor_loss | 1.0000 |
| 1:53509115:CTCAC:C | donor_loss | 1.0000 |
| 1:53509116:TCAC:T | donor_loss | 1.0000 |
| 1:53509117:CACC:C | donor_loss | 1.0000 |
| 1:53509118:A:T | donor_loss | 1.0000 |
| 1:53509119:C:CG | donor_loss | 1.0000 |
| 1:53520630:GTAC:G | donor_loss | 1.0000 |
| 1:53520631:TA:T | donor_loss | 1.0000 |
| 1:53520632:A:AC | donor_gain | 1.0000 |
| 1:53520632:A:AG | donor_loss | 1.0000 |
| 1:53520633:C:CC | donor_gain | 1.0000 |
| 1:53520633:C:CT | donor_loss | 1.0000 |
| 1:53520762:TGCAG:T | acceptor_gain | 1.0000 |
| 1:53520763:GCAG:G | acceptor_gain | 1.0000 |
| 1:53520763:GCAGC:G | acceptor_loss | 1.0000 |
| 1:53520764:CAG:C | acceptor_gain | 1.0000 |
| 1:53520764:CAGC:C | acceptor_gain | 1.0000 |
| 1:53520764:CAGCT:C | acceptor_loss | 1.0000 |
| 1:53520765:AG:A | acceptor_gain | 1.0000 |
| 1:53520765:AGCTG:A | acceptor_loss | 1.0000 |
| 1:53520766:GC:G | acceptor_loss | 1.0000 |
| 1:53520767:C:CC | acceptor_gain | 1.0000 |
| 1:53520767:CTG:C | acceptor_loss | 1.0000 |
| 1:53520768:T:G | acceptor_loss | 1.0000 |
| 1:53520775:C:CT | acceptor_gain | 1.0000 |
| 1:53520776:A:T | acceptor_gain | 1.0000 |
| 1:53520779:C:CT | acceptor_gain | 1.0000 |
| 1:53529785:GCCTA:G | donor_loss | 1.0000 |
| 1:53529786:CCTAC:C | donor_loss | 1.0000 |
| 1:53529787:CTACC:C | donor_loss | 1.0000 |
AlphaMissense
5116 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:53524874:C:G | C324S | 1.000 |
| 1:53524875:A:G | C324R | 1.000 |
| 1:53524875:A:T | C324S | 1.000 |
| 1:53529800:G:C | H316Q | 1.000 |
| 1:53529800:G:T | H316Q | 1.000 |
| 1:53529812:G:C | H312Q | 1.000 |
| 1:53529812:G:T | H312Q | 1.000 |
| 1:53529814:G:C | H312D | 1.000 |
| 1:53529822:C:G | R309P | 1.000 |
| 1:53529823:G:T | R309S | 1.000 |
| 1:53529839:G:C | F303L | 1.000 |
| 1:53529839:G:T | F303L | 1.000 |
| 1:53529840:A:C | F303C | 1.000 |
| 1:53529840:A:G | F303S | 1.000 |
| 1:53529841:A:G | F303L | 1.000 |
| 1:53529841:A:T | F303I | 1.000 |
| 1:53529852:C:G | C299S | 1.000 |
| 1:53529853:A:G | C299R | 1.000 |
| 1:53529853:A:T | C299S | 1.000 |
| 1:53529866:G:C | C294W | 1.000 |
| 1:53529867:C:G | C294S | 1.000 |
| 1:53529867:C:T | C294Y | 1.000 |
| 1:53529868:A:G | C294R | 1.000 |
| 1:53529868:A:T | C294S | 1.000 |
| 1:53529890:G:C | H286Q | 1.000 |
| 1:53529890:G:T | H286Q | 1.000 |
| 1:53529892:G:C | H286D | 1.000 |
| 1:53529896:C:A | R284S | 1.000 |
| 1:53529896:C:G | R284S | 1.000 |
| 1:53529897:C:G | R284T | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000002087 (1:53736533 C>T), RS1000005714 (1:53569852 A>G,T), RS1000033342 (1:53736308 AC>A), RS1000037210 (1:53718342 C>G,T), RS1000065933 (1:53605408 G>T), RS1000079481 (1:53562968 G>A,T), RS1000092585 (1:53694359 T>C), RS1000097834 (1:53695112 C>A,T), RS1000105598 (1:53554984 T>G), RS1000108928 (1:53518523 A>C), RS1000116772 (1:53688470 T>C), RS1000136036 (1:53536075 T>C), RS1000136386 (1:53524561 G>T), RS1000140958 (1:53575174 A>G), RS1000148337 (1:53695957 C>T)
Disease associations
OMIM: gene MIM:610378 | disease phenotypes:
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| glaucoma | Limited | Autosomal recessive |
Mondo (1): glaucoma (MONDO:0005041)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
16 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000635_11 | Response to statin therapy | 8.000000e-06 |
| GCST002132_1 | Non-substance related behavioral disinhibition | 2.000000e-06 |
| GCST002135_3 | Nicotine use | 5.000000e-06 |
| GCST003094_7 | Mitral valve prolapse | 1.000000e-07 |
| GCST003996_5 | Monobrow | 2.000000e-45 |
| GCST003999_8 | Nose size | 3.000000e-09 |
| GCST004069_8 | Cerebrospinal fluid AB1-42 levels | 2.000000e-08 |
| GCST005235_4 | Hand grip strength | 5.000000e-12 |
| GCST005748_1 | Digit length ratio (right hand) | 2.000000e-08 |
| GCST005749_10 | Digit length ratio (left hand) | 8.000000e-09 |
| GCST005749_11 | Digit length ratio (left hand) | 5.000000e-10 |
| GCST005750_1 | Digit length ratio | 2.000000e-11 |
| GCST005830_99 | Hand grip strength | 4.000000e-12 |
| GCST010002_385 | Refractive error | 7.000000e-13 |
| GCST90011768_11 | Glaucoma (primary open-angle) | 8.000000e-07 |
| GCST90011770_27 | Glaucoma (primary open-angle) | 6.000000e-08 |
EFO canonical traits (6, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005432 | non-substance related disinhibited behaviour |
| EFO:0005430 | nicotine use |
| EFO:0007906 | synophrys measurement |
| EFO:0004670 | beta-amyloid 1-42 measurement |
| EFO:0006941 | grip strength measurement |
| EFO:0004841 | digit length ratio |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D005901 | Glaucoma | C11.525.381 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
27 total (human), top 27 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | affects methylation, increases methylation | 2 |
| Smoke | increases expression | 2 |
| Aflatoxin B1 | affects methylation, decreases expression | 2 |
| TAK-243 | increases sumoylation | 1 |
| pirinixic acid | affects binding, decreases expression, increases activity | 1 |
| bisphenol A | decreases methylation | 1 |
| terbufos | increases methylation | 1 |
| arsenite | affects binding, decreases reaction | 1 |
| sodium arsenite | decreases expression | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| aflatoxin B2 | increases methylation | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Atrazine | increases expression | 1 |
| Fonofos | increases methylation | 1 |
| Formaldehyde | increases expression | 1 |
| Methapyrilene | increases methylation | 1 |
| Niclosamide | increases expression | 1 |
| Parathion | increases methylation | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
| Tobacco Smoke Pollution | decreases methylation | 1 |
| Valproic Acid | increases methylation | 1 |
| Asbestos, Crocidolite | affects expression | 1 |
| Antirheumatic Agents | increases expression | 1 |
| Cadmium Chloride | decreases expression | 1 |
| Lactic Acid | increases expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_HC76 | HEK293 eGFP-GLIS1 | Transformed cell line | Female |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00061503 | PHASE4 | COMPLETED | Mechanism of Action of TRAVATAN 0.004% in Subjects With Glaucoma or Ocular Hypertension |
| NCT00143208 | PHASE4 | COMPLETED | Evaluation Of Intraocular Pressure Lowering-Effect Of Xalacom In Patients With Poag Or Oh. |
| NCT00224289 | PHASE4 | COMPLETED | Effect of Age on Latanoprost 0.005% in Patients With Glaucoma |
| NCT00273221 | PHASE4 | UNKNOWN | Combined Phacotube vs Phacotrabeculectomy:A Randomized Controlled Trial |
| NCT00329095 | PHASE4 | COMPLETED | An Evaluation of Use of Topical Ocular Hypotensive Medication by Compliance |
| NCT00345046 | PHASE4 | COMPLETED | A Comparison of Three Different Formulations of Prednisolone Acetate 1% |
| NCT00346489 | PHASE4 | COMPLETED | Outcomes of Intraoperative 5-Fluorouracil Versus Mitomycin C |
| NCT00347035 | PHASE4 | TERMINATED | INFLUENCE OF TOPICAL INDOMETHACIN ON HYPOTHENSIVE EFFECT OF BRIMONIDINE |
| NCT00347802 | PHASE4 | COMPLETED | Diurnal Curves With Bimatoprost 0.03% Versus Travoprost 0.004% |
| NCT00347841 | PHASE4 | COMPLETED | Efficacy of Bimatoprost 0.03% in Patients Who Are Low-Responders to Latanoprost |
| NCT00348023 | PHASE4 | COMPLETED | Bimatoprost Monotherapy vs. Dual Therapy With Travoprost and Timolol in Patients With Glaucoma and Ocular Hypertension |
| NCT00348062 | PHASE4 | COMPLETED | A Multicenter Evaluation of Methods to Reduce Hyperemia Associated With Bimatoprost Therapy for Glaucoma or Ocular Hypertension |
| NCT00348400 | PHASE4 | COMPLETED | Brimonidine Purite 0.15% Versus Dorzolamide 2% Used as Adjunctive Therapy to Latanoprost |
| NCT00351429 | PHASE4 | COMPLETED | Study of PGA Suture in Ophthalmology |
| NCT00376974 | PHASE4 | UNKNOWN | The Effect of Education on Patient Compliance |
| NCT00379834 | PHASE4 | COMPLETED | 12-Month Stability of Diurnal IOP Control on Cosopt |
| NCT00382226 | PHASE4 | COMPLETED | IOP-Lowering Efficacy of Brinzolamide 1.0% Added to Travoprost 0.004%/Timolol 0.5% Fixed Combination as Adjunctive Therapy |
| NCT00404729 | PHASE4 | COMPLETED | Neural Conduction Along the Visual Pathways After Oral Treatment With Citicoline in Patients With Optic Nerve Diseases |
| NCT00440011 | PHASE4 | COMPLETED | Bimatoprost 0.03% Versus Travoprost 0.004% in Patients Currently on Latanoprost 0.005% |
| NCT00440141 | PHASE4 | COMPLETED | Brimonidine 0.1% Versus Brinzolamide 1% as Adjunctive Therapy to Latanoprost 0.005% |
| NCT00442312 | PHASE4 | UNKNOWN | Combigan Ophthalmic Solution(Brimonidine 0.2% and Timolol 0.5%)With Latanoprost Compared With Latanoprost Monotherapy |
| NCT00444184 | PHASE4 | COMPLETED | 24-hour Intraocular Pressure Control With Travoprost/Timolol Fixed Combination Versus Travoprost |
| NCT00444665 | PHASE4 | COMPLETED | Examining The Efficacy, Safety And Improved Tolerability Of Travoprost BAK Free Ophthalmic Solution (Travatan-Z) Compared To Prior Prostaglandin Therapy |
| NCT00449098 | PHASE4 | UNKNOWN | Ologen (OculusGen)-Glaucoma MMC Control Trial in India |
| NCT00466479 | PHASE4 | COMPLETED | Brimonidine vs ALTP in Progressing Human Glaucoma |
| NCT00468429 | PHASE4 | UNKNOWN | Subconjunctival Bevacizumab to Prevent Bleb Failure After Glaucoma Filtration Surgery |
| NCT00468988 | PHASE4 | COMPLETED | Short Term Comparative Study of Xalatan With Benzalkonium Chloride vs. Travatan Z Without Benzalkonium Chloride in Healthy Volunteers |
| NCT00471380 | PHASE4 | COMPLETED | A Phase IV Study of Travoprost + Brinzolamide to Treat Glaucoma or Ocular Hypertension |
| NCT00485238 | PHASE4 | UNKNOWN | ALPI vs Medical Therapy Effects on Optic Nerve Structure & Function |
| NCT00486486 | PHASE4 | COMPLETED | 24-hour Intraocular Pressure (IOP) Control With the Bimatoprost/Timolol Fixed Combination |
| NCT00519753 | PHASE4 | COMPLETED | Success of Transitioning Uncontrolled Glaucoma Patients From Prior Mono or Adjunctive Therapy to DuoTrav |
| NCT00541242 | PHASE4 | COMPLETED | Safety and Efficacy of Bimatoprost Compared With Latanoprost in Patients With Glaucoma or Ocular Hypertension |
| NCT00557232 | PHASE4 | COMPLETED | Intraocular Bevacizumab (Avastin) for Rubeosis Iridis |
| NCT00597181 | PHASE4 | TERMINATED | A Clinical Study Comparing the Inflammatory Response of the Ex-Press Mini Shunt to Trabeculectomy |
| NCT00607685 | PHASE4 | COMPLETED | 5FU vs 5FU With Viscoelastic Formulation for the Prevention of Scarring Post-trabeculectomy |
| NCT00626067 | PHASE4 | COMPLETED | Study of Patient Use and Perception of the Travatan Dosing Aid |
| NCT00666237 | PHASE4 | COMPLETED | Primary Tube Versus Trabeculectomy Study |
| NCT00698438 | PHASE4 | COMPLETED | Comparison Of Trabeculectomy Versus The Ex-PRESS Miniature Glaucoma Device In The Same Patient: A Prospective Randomized Study |
| NCT00705757 | PHASE4 | COMPLETED | The Effects of Xalatan, Travatan and Lumigan on Skin Pigmentation Near the Eye |
| NCT00708422 | PHASE4 | COMPLETED | Effects of Travatan Z and Xalatan on Ocular Surface Health |