SEZ6L
geneOn this page
Also known as SEZ6L1
Summary
SEZ6L (seizure related 6 homolog like, HGNC:10763) is a protein-coding gene on chromosome 22q12.1, encoding Seizure 6-like protein (Q9BYH1). May contribute to specialized endoplasmic reticulum functions in neurons.
Predicted to be involved in synapse maturation. Predicted to act upstream of or within activation of protein kinase C activity; adult locomotory behavior; and cerebellar Purkinje cell layer development. Predicted to be located in endoplasmic reticulum membrane. Predicted to be active in several cellular components, including glutamatergic synapse; neuronal cell body; and postsynaptic membrane.
Source: NCBI Gene 23544 — RefSeq curated summary.
At a glance
- GWAS associations: 4
- Clinical variants (ClinVar): 197 total — 1 likely-pathogenic
- Phenotypes (HPO): 1
- MANE Select transcript:
NM_021115
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:10763 |
| Approved symbol | SEZ6L |
| Name | seizure related 6 homolog like |
| Location | 22q12.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | SEZ6L1 |
| Ensembl gene | ENSG00000100095 |
| Ensembl biotype | protein_coding |
| OMIM | 607021 |
| Entrez | 23544 |
Gene structure
Transcript identifiers
Ensembl transcripts: 14 — 12 protein_coding, 1 retained_intron, 1 protein_coding_CDS_not_defined
ENST00000248933, ENST00000343706, ENST00000360929, ENST00000402979, ENST00000403121, ENST00000404234, ENST00000483291, ENST00000494013, ENST00000529632, ENST00000629590, ENST00000867853, ENST00000940334, ENST00000940335, ENST00000957709
RefSeq mRNA: 6 — MANE Select: NM_021115
NM_001184773, NM_001184774, NM_001184775, NM_001184776, NM_001184777, NM_021115
CCDS: CCDS13833, CCDS54508, CCDS54509, CCDS54510, CCDS54511, CCDS74837
Canonical transcript exons
ENST00000248933 — 17 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001150782 | 26373451 | 26373483 |
| ENSE00001150792 | 26375575 | 26375689 |
| ENSE00001604219 | 26311768 | 26311962 |
| ENSE00001661391 | 26310670 | 26310836 |
| ENSE00001666301 | 26313764 | 26313902 |
| ENSE00001668531 | 26294292 | 26294425 |
| ENSE00001701445 | 26340436 | 26340632 |
| ENSE00001706165 | 26305979 | 26306144 |
| ENSE00001716568 | 26292406 | 26293146 |
| ENSE00001745829 | 26298984 | 26299169 |
| ENSE00001771464 | 26347719 | 26347913 |
| ENSE00001778626 | 26296888 | 26297080 |
| ENSE00001930850 | 26380266 | 26383596 |
| ENSE00003493616 | 26351052 | 26351243 |
| ENSE00003506087 | 26365372 | 26365566 |
| ENSE00003628842 | 26377673 | 26377775 |
| ENSE00003843605 | 26169462 | 26169763 |
Expression profiles
Bgee: expression breadth ubiquitous, 167 present calls, max score 97.10.
FANTOM5 (CAGE): breadth broad, TPM avg 7.6226 / max 376.9504, expressed in 327 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 191498 | 4.8119 | 308 |
| 191499 | 2.6828 | 241 |
| 191496 | 0.0646 | 35 |
| 191497 | 0.0632 | 30 |
Top tissues by expression
279 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| ganglionic eminence | UBERON:0004023 | 97.10 | gold quality |
| endothelial cell | CL:0000115 | 94.13 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 93.98 | gold quality |
| ventricular zone | UBERON:0003053 | 92.91 | gold quality |
| prefrontal cortex | UBERON:0000451 | 91.81 | gold quality |
| buccal mucosa cell | CL:0002336 | 91.21 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 90.95 | gold quality |
| CA1 field of hippocampus | UBERON:0003881 | 90.92 | gold quality |
| cingulate cortex | UBERON:0003027 | 90.47 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 90.44 | gold quality |
| cortical plate | UBERON:0005343 | 90.02 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 89.92 | gold quality |
| neocortex | UBERON:0001950 | 89.19 | gold quality |
| cerebral cortex | UBERON:0000956 | 89.03 | gold quality |
| Ammon’s horn | UBERON:0001954 | 88.99 | gold quality |
| hypothalamus | UBERON:0001898 | 88.98 | gold quality |
| frontal cortex | UBERON:0001870 | 88.90 | gold quality |
| cerebellar cortex | UBERON:0002129 | 88.66 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 88.60 | gold quality |
| amygdala | UBERON:0001876 | 88.35 | gold quality |
| cerebellum | UBERON:0002037 | 88.20 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 88.09 | gold quality |
| right frontal lobe | UBERON:0002810 | 88.03 | gold quality |
| islet of Langerhans | UBERON:0000006 | 87.86 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 86.94 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 86.28 | gold quality |
| temporal lobe | UBERON:0001871 | 86.26 | gold quality |
| primary visual cortex | UBERON:0002436 | 85.79 | gold quality |
| orbitofrontal cortex | UBERON:0004167 | 85.36 | gold quality |
| telencephalon | UBERON:0001893 | 85.23 | gold quality |
Single-cell (SCXA)
Detected in 5 experiment(s), a significant marker in 5.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-35 | yes | 63.92 |
| E-GEOD-84465 | yes | 26.15 |
| E-GEOD-83139 | yes | 7.97 |
| E-ANND-3 | yes | 5.02 |
| E-GEOD-93593 | yes | 4.34 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
167 targeting SEZ6L, 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-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-3120-5P | 100.00 | 65.56 | 965 |
| HSA-MIR-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-4776-3P | 100.00 | 68.73 | 1340 |
| HSA-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-4476 | 100.00 | 68.18 | 2030 |
| HSA-MIR-6876-5P | 100.00 | 67.68 | 2126 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-4531 | 99.99 | 69.70 | 3181 |
| HSA-MIR-196A-1-3P | 99.99 | 72.15 | 2772 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-6888-3P | 99.97 | 65.95 | 1170 |
| HSA-MIR-3688-3P | 99.97 | 72.02 | 2834 |
| HSA-MIR-8075 | 99.97 | 67.20 | 962 |
| HSA-MIR-548AN | 99.97 | 70.91 | 2817 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-493-5P | 99.96 | 72.47 | 2382 |
| HSA-MIR-96-5P | 99.95 | 72.80 | 2140 |
| HSA-MIR-548J-3P | 99.94 | 72.61 | 4881 |
| HSA-MIR-6835-3P | 99.93 | 70.49 | 2904 |
| HSA-MIR-548AE-3P | 99.93 | 72.66 | 4867 |
Literature-anchored findings (GeneRIF, showing 4)
- A role of the SEZ6L Met430Ile polymorphic variant in increasing lung cancer risk. (PMID:17804757)
- the addition of SEZ6L improved the performance of the Liverpool Lung Project risk model. (PMID:20424129)
- This is the first demonstration that genetic variants in the SEZ6L gene are associated with bipolar disorder Iin female patients and provides additional compelling evidence for genetic variation at 22q11-13 that influences BD-I risk. (PMID:22920719)
- SEZ6L, HISPPD1, FEZF1, SAMD11 gene variants may be associated with autism spectrum disorder. (PMID:26204995)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | sez6l | ENSDARG00000100594 |
| mus_musculus | Sez6l | ENSMUSG00000058153 |
| rattus_norvegicus | Sez6l | ENSRNOG00000025612 |
Paralogs (39): CFH (ENSG00000000971), SELE (ENSG00000007908), C8B (ENSG00000021852), C6 (ENSG00000039537), SEZ6 (ENSG00000063015), CFHR2 (ENSG00000080910), APOH (ENSG00000091583), SUSD6 (ENSG00000100647), SRPX (ENSG00000101955), SRPX2 (ENSG00000102359), C7 (ENSG00000112936), C9 (ENSG00000113600), PAPPA2 (ENSG00000116183), CFHR3 (ENSG00000116785), CR2 (ENSG00000117322), CD46 (ENSG00000117335), CSMD2 (ENSG00000121904), C4BPA (ENSG00000123838), C4BPB (ENSG00000123843), CFHR4 (ENSG00000134365), CFHR5 (ENSG00000134389), F13B (ENSG00000143278), SUSD4 (ENSG00000143502), C8A (ENSG00000157131), SUSD3 (ENSG00000157303), CSMD3 (ENSG00000164796), SVEP1 (ENSG00000165124), C2 (ENSG00000166278), SELP (ENSG00000174175), SEZ6L2 (ENSG00000174938), PRF1 (ENSG00000180644), PAPPA (ENSG00000182752), CSMD1 (ENSG00000183117), SELL (ENSG00000188404), CD55 (ENSG00000196352), CR1L (ENSG00000197721), CR1 (ENSG00000203710), CFB (ENSG00000243649), CFHR1 (ENSG00000244414)
Protein
Protein identifiers
Seizure 6-like protein — Q9BYH1 (reviewed: Q9BYH1)
All UniProt accessions (4): B0QYH4, B0QYH5, B7ZLJ8, Q9BYH1
UniProt curated annotations — full annotation on UniProt →
Function. May contribute to specialized endoplasmic reticulum functions in neurons.
Subcellular location. Endoplasmic reticulum membrane.
Tissue specificity. Widely expressed, including adult and fetal brains and lungs. Not expressed in all lung cancer cell lines.
Post-translational modifications. O-glycosylated.
Similarity. Belongs to the SEZ6 family.
Isoforms (7)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9BYH1-1 | 4 | yes |
| Q9BYH1-2 | 1 | |
| Q9BYH1-3 | 2 | |
| Q9BYH1-4 | 3 | |
| Q9BYH1-5 | 5 | |
| Q9BYH1-6 | 6 | |
| Q9BYH1-7 | 7 |
RefSeq proteins (6): NP_001171702, NP_001171703, NP_001171704, NP_001171705, NP_001171706, NP_066938* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000436 | Sushi_SCR_CCP_dom | Domain |
| IPR000859 | CUB_dom | Domain |
| IPR035914 | Sperma_CUB_dom_sf | Homologous_superfamily |
| IPR035976 | Sushi/SCR/CCP_sf | Homologous_superfamily |
| IPR051277 | SEZ6_CSMD_C4BPB_Regulators | Family |
Pfam: PF00084, PF00431
UniProt features (62 total): glycosylation site 12, disulfide bond 11, domain 8, splice variant 7, strand 7, region of interest 5, sequence variant 4, compositionally biased region 3, topological domain 2, signal peptide 1, chain 1, transmembrane region 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2YRA | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9BYH1-F1 | 69.41 | 0.27 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Disulfide bonds (11): 281–308, 393–433, 419–448, 567–609, 594–624, 745–787, 773–800, 806–848, 834–865, 873–915, 901–930
Glycosylation sites (12): 49, 311, 328, 350, 435, 458, 474, 514, 576, 618, 674, 742
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 168 (showing top):
GOBP_HINDBRAIN_DEVELOPMENT, GOBP_METENCEPHALON_DEVELOPMENT, GOBP_BEHAVIOR, NKX25_02, GOBP_ADULT_BEHAVIOR, MORF_ATRX, GOBP_ADULT_LOCOMOTORY_BEHAVIOR, CHX10_01, GGGTGGRR_PAX4_03, USF_C, NKX61_01, GOBP_CELL_JUNCTION_ORGANIZATION, GOBP_CEREBELLAR_CORTEX_DEVELOPMENT, MODULE_379, GOBP_HEAD_DEVELOPMENT
GO Biological Process (3): adult locomotory behavior (GO:0008344), cerebellar Purkinje cell layer development (GO:0021680), synapse maturation (GO:0060074)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (4): endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), neuronal cell body (GO:0043025), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| locomotory behavior | 1 |
| adult behavior | 1 |
| cerebellar cortex development | 1 |
| anatomical structure development | 1 |
| nervous system development | 1 |
| developmental maturation | 1 |
| synapse organization | 1 |
| binding | 1 |
| cytoplasm | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
| organelle membrane | 1 |
| nuclear outer membrane-endoplasmic reticulum membrane network | 1 |
| endoplasmic reticulum subcompartment | 1 |
| somatodendritic compartment | 1 |
| cell body | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
2429 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SEZ6L | MYO18B | Q8IUG5 | 924 |
| SEZ6L | GRK3 | P35626 | 816 |
| SEZ6L | BACE2 | Q9Y5Z0 | 598 |
| SEZ6L | RNF222 | A6NCQ9 | 574 |
| SEZ6L | MYO18A | Q92614 | 552 |
| SEZ6L | GCSAML | Q5JQS6 | 531 |
| SEZ6L | ARVCF | O00192 | 495 |
| SEZ6L | FAM174A | Q8TBP5 | 475 |
| SEZ6L | SRRD | Q9UH36 | 470 |
| SEZ6L | TANGO2 | Q6ICL3 | 456 |
| SEZ6L | TNRC18 | O15417 | 440 |
| SEZ6L | GALNT18 | Q6P9A2 | 430 |
| SEZ6L | CACHD1 | Q5VU97 | 430 |
| SEZ6L | OSBPL6 | Q9BZF3 | 429 |
| SEZ6L | BACE1 | P56817 | 426 |
IntAct
4 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| APP | SEZ6L | psi-mi:“MI:0915”(physical association) | 0.370 |
| SEZ6L | PTPRD | psi-mi:“MI:0914”(association) | 0.350 |
| RSPH1 | SEZ6L | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (10): SEZ6L (Two-hybrid), UBQLN1 (Two-hybrid), GPRASP2 (Two-hybrid), UBQLN2 (Two-hybrid), SEZ6L (Affinity Capture-MS), SNX17 (Affinity Capture-MS), MYADM (Affinity Capture-MS), PTPRS (Affinity Capture-MS), PTPRD (Affinity Capture-MS), SEZ6L (Two-hybrid)
ESM2 similar proteins: A5D8T8, O35217, O75078, O75882, O75900, O88272, O88507, O88676, O95633, P08887, P0C7M8, P0C7M9, P26992, P78539, Q00961, Q01098, Q08406, Q0ZCA7, Q14957, Q1LZB9, Q2TBM7, Q4V7F2, Q5EA46, Q5VV63, Q63769, Q642A6, Q6A051, Q6IA17, Q6P1D5, Q6PCB0, Q6UXF7, Q71DR4, Q7TNS7, Q7TSQ1, Q8NCF0, Q8R2Z5, Q8R366, Q91XD7, Q96FT7, Q96HD1
Diamond homologs: A0A182C2Z2, A0JNA2, B3EX01, E7FEC4, O08569, O19124, O57254, O62685, O62837, O88174, P08174, P0DTN2, P15529, P21115, P24083, P24084, P36980, P49457, P79138, P81475, Q01227, Q07968, Q28085, Q29RN8, Q4V9Z5, Q53EL9, Q5R4D0, Q5R8M2, Q5VX71, Q60736, Q63515, Q6AX42, Q6P1D5, Q6UXD5, Q7TSK2, Q7Z408, Q8BH32, Q9BYH1, Q9JF44, Q9W332
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
197 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 1 |
| Uncertain significance | 163 |
| Likely benign | 12 |
| Benign | 7 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 4819298 | NM_021115.5(SEZ6L):c.2574G>A (p.Trp858Ter) | Likely pathogenic |
SpliceAI
2950 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 22:26169759:GCGAG:G | donor_gain | 1.0000 |
| 22:26169760:CGAG:C | donor_gain | 1.0000 |
| 22:26169761:GAG:G | donor_gain | 1.0000 |
| 22:26169761:GAGG:G | donor_gain | 1.0000 |
| 22:26169762:AG:A | donor_gain | 1.0000 |
| 22:26169762:AGGTA:A | donor_loss | 1.0000 |
| 22:26169763:GG:G | donor_gain | 1.0000 |
| 22:26169763:GGTA:G | donor_loss | 1.0000 |
| 22:26169764:G:GG | donor_gain | 1.0000 |
| 22:26169764:GTAA:G | donor_loss | 1.0000 |
| 22:26292403:A:AG | acceptor_gain | 1.0000 |
| 22:26292403:AAGAT:A | acceptor_gain | 1.0000 |
| 22:26292404:A:G | acceptor_gain | 1.0000 |
| 22:26292405:GAT:G | acceptor_gain | 1.0000 |
| 22:26294437:A:T | donor_gain | 1.0000 |
| 22:26294470:G:GT | donor_gain | 1.0000 |
| 22:26296875:T:TA | acceptor_gain | 1.0000 |
| 22:26296884:CCA:C | acceptor_loss | 1.0000 |
| 22:26296886:A:AG | acceptor_gain | 1.0000 |
| 22:26296886:A:C | acceptor_loss | 1.0000 |
| 22:26296887:G:GG | acceptor_gain | 1.0000 |
| 22:26297044:G:GT | donor_gain | 1.0000 |
| 22:26297079:GG:G | donor_gain | 1.0000 |
| 22:26297080:GG:G | donor_gain | 1.0000 |
| 22:26310664:T:A | acceptor_gain | 1.0000 |
| 22:26310833:GAAG:G | donor_gain | 1.0000 |
| 22:26310834:AAGGT:A | donor_loss | 1.0000 |
| 22:26310835:AG:A | donor_gain | 1.0000 |
| 22:26310835:AGG:A | donor_loss | 1.0000 |
| 22:26310836:GG:G | donor_gain | 1.0000 |
AlphaMissense
6654 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 22:26299144:G:C | W441C | 1.000 |
| 22:26299144:G:T | W441C | 1.000 |
| 22:26311867:G:A | C594Y | 1.000 |
| 22:26311911:T:A | C609S | 1.000 |
| 22:26311911:T:C | C609R | 1.000 |
| 22:26311912:G:C | C609S | 1.000 |
| 22:26311935:T:A | W617R | 1.000 |
| 22:26311935:T:C | W617R | 1.000 |
| 22:26311937:G:C | W617C | 1.000 |
| 22:26311937:G:T | W617C | 1.000 |
| 22:26311956:T:A | C624S | 1.000 |
| 22:26311956:T:C | C624R | 1.000 |
| 22:26311957:G:C | C624S | 1.000 |
| 22:26313855:G:C | W656C | 1.000 |
| 22:26313855:G:T | W656C | 1.000 |
| 22:26347767:G:A | G754D | 1.000 |
| 22:26347817:T:G | Y771D | 1.000 |
| 22:26347823:T:A | C773S | 1.000 |
| 22:26347823:T:C | C773R | 1.000 |
| 22:26347824:G:A | C773Y | 1.000 |
| 22:26347824:G:C | C773S | 1.000 |
| 22:26347824:G:T | C773F | 1.000 |
| 22:26347825:T:G | C773W | 1.000 |
| 22:26347865:T:A | C787S | 1.000 |
| 22:26347865:T:C | C787R | 1.000 |
| 22:26347866:G:A | C787Y | 1.000 |
| 22:26347866:G:C | C787S | 1.000 |
| 22:26347867:C:G | C787W | 1.000 |
| 22:26347883:T:A | W793R | 1.000 |
| 22:26347883:T:C | W793R | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000000479 (22:26309904 A>G), RS1000024155 (22:26295911 A>G,T), RS1000079757 (22:26280915 A>C,G), RS1000080194 (22:26288316 A>G), RS1000086169 (22:26172235 A>G), RS1000095760 (22:26205703 C>T), RS1000114215 (22:26233373 G>A,T), RS1000163137 (22:26204318 G>A,T), RS1000172300 (22:26340078 C>G), RS1000192114 (22:26331183 C>T), RS1000194992 (22:26265638 C>A), RS1000214417 (22:26236174 G>A,C), RS1000223706 (22:26188057 A>T), RS1000248538 (22:26239269 G>A,C), RS1000248618 (22:26236441 T>C)
Disease associations
OMIM: gene MIM:607021 | disease phenotypes: MIM:610425, MIM:209850
GenCC curated gene-disease
Mondo (3): prostate cancer (MONDO:0008315), cataract 23 (MONDO:0012489), autism (MONDO:0005260)
Orphanet (2): Familial prostate cancer (Orphanet:1331), Early onset non-syndromic cataract (Orphanet:91492)
HPO phenotypes
1 total (1 of 1 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000717 | Autism |
GWAS associations
4 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001208_14 | Insulin resistance/response | 6.000000e-06 |
| GCST001621_27 | Airflow obstruction | 5.000000e-06 |
| GCST002590_5 | Vascular brain injury | 8.000000e-06 |
| GCST002938_28 | Copper levels | 5.000000e-06 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0003892 | pulmonary function measurement |
| EFO:0006800 | vascular brain injury measurement |
MeSH disease descriptors (2)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D001321 | Autistic Disorder | F03.625.164.113.500 |
| D011471 | Prostatic Neoplasms | C04.588.945.440.770; C12.100.500.260.750; C12.100.500.565.625; C12.200.294.260.750; C12.200.294.565.625; C12.200.758.409.750; C12.900.619.750 |
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 |
|---|---|---|
| Nickel | decreases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| Tretinoin | increases expression | 2 |
| sodium arsenate | decreases expression | 1 |
| sodium arsenite | affects methylation | 1 |
| cobaltous chloride | decreases expression | 1 |
| tetrabromobisphenol A | increases expression | 1 |
| benzo(e)pyrene | decreases methylation | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| MT19c compound | decreases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Vorinostat | decreases expression | 1 |
| Atrazine | increases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Copper | affects cotreatment, decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Fluorouracil | affects reaction, decreases expression | 1 |
| Formaldehyde | decreases expression | 1 |
| Lead | affects splicing | 1 |
| Methapyrilene | decreases methylation | 1 |
| Rotenone | increases expression | 1 |
| Silicon Dioxide | decreases expression | 1 |
| Triclosan | decreases expression | 1 |
| Valproic Acid | increases expression | 1 |
| Zinc | decreases expression | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00029224 | PHASE4 | COMPLETED | Treatment With Zoledronic Acid in Patients With Breast Cancer, Multiple Myeloma, and Prostate Cancer With Cancer Related Bone Lesions |
| NCT00035997 | PHASE4 | COMPLETED | Open-label Trial on the Effect of I.V. Zoledronic Acid 4 mg on Bone Density in Hormone Sensitive Prostate Cancer Patients With Bone Metastasis |
| NCT00063609 | PHASE4 | COMPLETED | The Effect of Zoledronic Acid on Bone Loss in Prostate Cancer Patients Undergoing Androgen Deprivation Therapy |
| NCT00103623 | PHASE4 | SUSPENDED | The Plenaxis® Experience Study |
| NCT00106392 | PHASE4 | COMPLETED | A Safety and Efficacy Study of Prograf in the Prevention of Erectile Dysfunction After Radical Prostatectomy |
| NCT00185029 | PHASE4 | UNKNOWN | MR-Lymphography and Lymph Node Staging in Prostate Cancer |
| NCT00199485 | PHASE4 | COMPLETED | Angelica Sinensis for the Treatment of Hot Flashes in Men Undergoing LHRH Therapy for Prostate Cancer |
| NCT00219219 | PHASE4 | COMPLETED | Zoledronic Acid in the Prevention of Skeletal-related Events in Hormone Refractory and Hormone-sensitive Prostate Cancer Patients With Bone Metastases |
| NCT00219271 | PHASE4 | COMPLETED | Effect Of Zoledronic Acid On Circulating And Bone Marrow-Residing Prostate Cancer Cells In Patients With Clinically Localized Prostate Cancer |
| NCT00237146 | PHASE4 | COMPLETED | Study to Evaluate Zoledronic Acid on Quality of Life and Skeletal-related Events as Adjuvant Treatment in Patients With Hormone-naïve Prostate Cancer and Bone Metastasis Who Have Undergone Orchiectomy |
| NCT00242554 | PHASE4 | COMPLETED | Open-label Phase IV Clinical Trial to Evaluate the Safety and Tolerability of Zoledronic Acid in Patients With Prostate Cancer and Bone Metastases |
| NCT00280098 | PHASE4 | COMPLETED | Docetaxel in the Treatment of Hormone Refractory Prostate Cancer |
| NCT00293696 | PHASE4 | COMPLETED | Casodex/Zoladex Biomarkers in Localised Prostate Cancer |
| NCT00334139 | PHASE4 | COMPLETED | Effect of Zoledronic Acid on Bone Metabolism in Patients With Bone Metastasis and Prostate or Breast Cancer |
| NCT00375765 | PHASE4 | COMPLETED | Effects On Dihydrotestosterone Regulated Gene Expression In Benign Prostatic Hyperplasia Or Prostate Cancer |
| NCT00391690 | PHASE4 | COMPLETED | Evaluation of Bone Markers as Diagnostic Tools for Early Detection of Bone Metastases in Patients With High Risk Prostate Cancer |
| NCT00422708 | PHASE4 | COMPLETED | Local Anesthesia for Prostate Biopsy |
| NCT00526331 | PHASE4 | COMPLETED | Evaluation of Arterial Pressure Based Cardiac Output for Goal-Directed Perioperative Therapy |
| NCT00590213 | PHASE4 | COMPLETED | Compare the Value of Prophylactic Versus Therapeutic Breast Radiotherapy in CASODEX |
| NCT00629330 | PHASE4 | TERMINATED | Dissemination of Prostate Cancer Screening to PCP’s in African American Communities |
| NCT00771966 | PHASE4 | COMPLETED | Radical Prostatectomy and Perioperative Fluid Therapy |
| NCT00805701 | PHASE4 | COMPLETED | Study Assessing The Efficacy And Safety Of Avodart (Dutasteride) At Improving Urinary Symptoms In Men With Prostate Cancer Who Are Undergoing Seed Implantation |
| NCT00859027 | PHASE4 | COMPLETED | Effect Of Risedronate On Bone Mass In Older Men Receiving Neoadjuvant Therapy For Prostate Cancer |
| NCT00906269 | PHASE4 | UNKNOWN | Can Hyperbaric Oxygen Improve Erectile Function Following Surgery for Prostate Cancer |
| NCT00953277 | PHASE4 | COMPLETED | Study of Nerve Reconstruction Using AVANCE in Subjects Who Undergo Robotic Assisted Prostatectomy for Treatment of Prostate Cancer |
| NCT00982800 | PHASE4 | COMPLETED | Does Postoperative Gabapentin Reduce Pain, Opioid Consumption and Anxiety and Have a Positive Effect on Health Related Quality of Life After Radical Prostatectomy? |
| NCT01083199 | PHASE4 | COMPLETED | Global Performance Evaluation of the AMS CONTINUUM™ Device |
| NCT01136226 | PHASE4 | COMPLETED | Evaluate Recovery of Testosterone for Patients Using Eligard |
| NCT01161563 | PHASE4 | COMPLETED | Randomized Crossover Trial to Assess the Tolerability of Gonadotropin Releasing Hormone (GnRH) Analogue Administration |
| NCT01230905 | PHASE4 | COMPLETED | Study to Monitor the Effects of Androgen Suppression Treatment on the Heart |
| NCT01296672 | PHASE4 | COMPLETED | 3 Month Finasteride Challenge Test Can Significantly Improve the Performance of Screening for Prostate Cancer |
| NCT01365143 | PHASE4 | TERMINATED | Prospective Randomized Trial Comparing Robotic Versus Open Radical Prostatectomy |
| NCT01379742 | PHASE4 | UNKNOWN | Comparison of Between ThinSeed™ and OncoSeed™ for Permanent Prostate Brachytherapy |
| NCT01486563 | PHASE4 | COMPLETED | Hydroxyethyl Starch and Renal Function After Radical Prostatectomy |
| NCT01511874 | PHASE4 | COMPLETED | Efficacy and Safety Study of ELIGARD 22.5mg With Prostate Cancer |
| NCT01512472 | PHASE4 | TERMINATED | Firmagon (Degarelix) Intermittent Therapy |
| NCT01547416 | PHASE4 | COMPLETED | The Effect of Combined General/Epidural Anesthesia Versus General Anesthesia on Diaphragmatic Function |
| NCT01571544 | PHASE4 | COMPLETED | The Use of Thermal Suits as Preventing Hypothermia During Surgery |
| NCT01581749 | PHASE4 | UNKNOWN | Evaluation of Truebeam for Low-Intermediate Risk Prostate Cancer |
| NCT01649635 | PHASE4 | COMPLETED | Study of Cabazitaxel Combined With Prednisone and Prophylaxis of Neutropenia Complications in the Treatment of Patients With Metastatic Castration-resistant Prostate Cancer |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): autism, cataract 23, prostate cancer, vascular brain injury