PPAN
gene geneOn this page
Also known as SSF1SSF2SSFBXDC3
Summary
PPAN (peter pan homolog, HGNC:9227) is a protein-coding gene on chromosome 19p13.2, encoding Suppressor of SWI4 1 homolog (Q9NQ55). May have a role in cell growth. It is a common-essential gene (DepMap: required in 99.8% of cancer cell lines).
The protein encoded by this gene is an evolutionarily conserved protein similar to yeast SSF1 as well as to the gene product of the Drosophila gene peter pan (ppan). SSF1 is known to be involved in the second step of mRNA splicing. Both SSF1 and ppan are essential for cell growth and proliferation. Exogenous expression of this gene was reported to reduce the anchorage-independent growth of some tumor cells. Read-through transcription of this gene with P2RY11/P2Y(11), an adjacent downstream gene that encodes an ATP receptor, has been found. These read-through transcripts are ubiquitously present and up-regulated during granulocyte differentiation.
Source: NCBI Gene 56342 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 26 total — 1 pathogenic
- Cancer dependency (DepMap): dependent in 99.8% of screened cell lines (common-essential)
- MANE Select transcript:
NM_020230
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:9227 |
| Approved symbol | PPAN |
| Name | peter pan homolog |
| Location | 19p13.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | SSF1, SSF2, SSF, BXDC3 |
| Ensembl gene | ENSG00000130810 |
| Ensembl biotype | protein_coding |
| OMIM | 607793 |
| Entrez | 56342 |
Gene structure
Transcript identifiers
Ensembl transcripts: 16 — 13 protein_coding, 3 retained_intron
ENST00000253107, ENST00000393793, ENST00000430370, ENST00000444703, ENST00000446223, ENST00000466025, ENST00000468881, ENST00000486482, ENST00000891444, ENST00000891445, ENST00000891446, ENST00000931026, ENST00000931027, ENST00000969248, ENST00000969249, ENST00000969250
RefSeq mRNA: 3 — MANE Select: NM_020230
NM_001346139, NM_001346141, NM_020230
CCDS: CCDS12225, CCDS86698
Canonical transcript exons
ENST00000253107 — 12 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001374030 | 10106362 | 10106412 |
| ENSE00001704453 | 10110945 | 10112012 |
| ENSE00003472144 | 10110123 | 10110246 |
| ENSE00003483583 | 10110697 | 10110866 |
| ENSE00003495152 | 10110485 | 10110614 |
| ENSE00003535794 | 10107964 | 10108134 |
| ENSE00003568439 | 10107505 | 10107606 |
| ENSE00003569362 | 10106501 | 10106671 |
| ENSE00003608310 | 10107804 | 10107854 |
| ENSE00003627655 | 10110324 | 10110402 |
| ENSE00003681380 | 10109631 | 10109707 |
| ENSE00003693932 | 10109913 | 10110020 |
Expression profiles
Bgee: expression breadth ubiquitous, 239 present calls, max score 94.99.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 2.8464 / max 50.0734, expressed in 1340 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 173732 | 39.9666 | 1809 |
| 173733 | 1.6392 | 1034 |
| 173734 | 0.7678 | 368 |
| 208683 | 0.4395 | 216 |
Top tissues by expression
271 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| sural nerve | UBERON:0015488 | 94.99 | gold quality |
| granulocyte | CL:0000094 | 91.69 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 90.73 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 90.16 | gold quality |
| tongue squamous epithelium | UBERON:0006919 | 89.86 | silver quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 89.80 | gold quality |
| gastrocnemius | UBERON:0001388 | 89.78 | gold quality |
| esophagus mucosa | UBERON:0002469 | 89.58 | gold quality |
| parotid gland | UBERON:0001831 | 89.26 | gold quality |
| skin of leg | UBERON:0001511 | 89.13 | gold quality |
| skin of abdomen | UBERON:0001416 | 89.12 | gold quality |
| left uterine tube | UBERON:0001303 | 89.10 | gold quality |
| apex of heart | UBERON:0002098 | 88.72 | gold quality |
| muscle of leg | UBERON:0001383 | 88.69 | gold quality |
| gingival epithelium | UBERON:0001949 | 88.54 | gold quality |
| spleen | UBERON:0002106 | 88.43 | gold quality |
| esophagus | UBERON:0001043 | 88.12 | gold quality |
| body of stomach | UBERON:0001161 | 87.89 | gold quality |
| body of pancreas | UBERON:0001150 | 87.78 | gold quality |
| vermiform appendix | UBERON:0001154 | 87.58 | gold quality |
| ectocervix | UBERON:0012249 | 87.57 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 87.57 | gold quality |
| pancreatic ductal cell | CL:0002079 | 87.52 | silver quality |
| transverse colon | UBERON:0001157 | 87.44 | gold quality |
| omental fat pad | UBERON:0010414 | 87.40 | gold quality |
| right ovary | UBERON:0002118 | 87.36 | gold quality |
| peritoneum | UBERON:0002358 | 87.36 | gold quality |
| left ovary | UBERON:0002119 | 87.13 | gold quality |
| right lobe of liver | UBERON:0001114 | 87.06 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 87.04 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 4.15 |
| E-MTAB-6911 | no | 284.16 |
| E-MTAB-6524 | no | 155.39 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
1 targeting PPAN, 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-4277 | 98.34 | 67.17 | 1323 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 99.8% of screened cell lines, common-essential.
Literature-anchored findings (GeneRIF, showing 5)
- The functional analysis of the Drosophila homolog. [LH] (PMID:10359593)
- a novel nucleolar stress-response pathway involving PPAN, NPM, and BAX to guarantee cell survival in a p53-independent manner. (PMID:25759387)
- data underline the notion that the PPAN-mediated, p53-independent nucleolar stress response has multiple facets. (PMID:30716409)
- The study uncovers that PPAN knockdown is linked to mitochondrial damage and stimulates autophagy. (PMID:31416196)
- An SNP reducing SNORD105 and PPAN expression decreases the risk of hepatocellular carcinoma in a Chinese population. (PMID:34741342)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ppan | ENSDARG00000022232 |
| mus_musculus | Ppan | ENSMUSG00000004100 |
| rattus_norvegicus | Ppan | ENSRNOG00000020608 |
| drosophila_melanogaster | ppan | FBGN0010770 |
| caenorhabditis_elegans | lpd-6 | WBGENE00003062 |
Protein
Protein identifiers
Suppressor of SWI4 1 homolog — Q9NQ55 (reviewed: Q9NQ55)
Alternative names: Brix domain-containing protein 3, Peter Pan homolog
All UniProt accessions (5): Q9NQ55, A8MV53, C9J3W3, C9JHF7, H7C446
UniProt curated annotations — full annotation on UniProt →
Function. May have a role in cell growth.
Subcellular location. Nucleus. Nucleolus.
Tissue specificity. Widely expressed.
Miscellaneous. A chimeric transcript, characterized by the first third of PPAN exon 12 joined to P2RY11 exon 2, has been detected. It is possibly produced by trans-splicing. The chimeric transcript is widely expressed and can be induced by retinoic acid during the granulocytic differentiation of the HL-60 cell line. The resulting chimeric protein shows a much lower activity than the non-chimeric P2RY11 gene product, but qualitatively indistinguishable.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9NQ55-1 | 1 | yes |
| Q9NQ55-2 | 2 | |
| Q9NQ55-3 | 3 |
RefSeq proteins (3): NP_001333068, NP_001333070, NP_064615* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR007109 | Brix | Domain |
| IPR045112 | PPAN-like | Family |
Pfam: PF04427
UniProt features (18 total): compositionally biased region 6, modified residue 4, splice variant 2, sequence variant 2, chain 1, domain 1, sequence conflict 1, region of interest 1
Structure
Experimental structures (PDB)
4 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 8FKQ | ELECTRON MICROSCOPY | 2.76 |
| 8FKP | ELECTRON MICROSCOPY | 2.85 |
| 8FKS | ELECTRON MICROSCOPY | 2.88 |
| 8FKR | ELECTRON MICROSCOPY | 2.89 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9NQ55-F1 | 72.84 | 0.25 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (4): 240, 359, 438, 238
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 146 (showing top):
GOBP_RIBOSOME_BIOGENESIS, SHEPARD_CRASH_AND_BURN_MUTANT_UP, MUELLER_PLURINET, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, GOBP_MATURATION_OF_LSU_RRNA, HESS_TARGETS_OF_HOXA9_AND_MEIS1_UP, BROWN_MYELOID_CELL_DEVELOPMENT_DN, SPIELMAN_LYMPHOBLAST_EUROPEAN_VS_ASIAN_UP, MARCINIAK_ER_STRESS_RESPONSE_VIA_CHOP, BONOME_OVARIAN_CANCER_POOR_SURVIVAL_DN, SARTIPY_NORMAL_AT_INSULIN_RESISTANCE_UP, GOBP_RIBONUCLEOPROTEIN_COMPLEX_BIOGENESIS, GOBP_RIBOSOMAL_LARGE_SUBUNIT_BIOGENESIS, IVANOVA_HEMATOPOIESIS_EARLY_PROGENITOR, CUI_TCF21_TARGETS_2_UP
GO Biological Process (2): maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000463), rRNA processing (GO:0006364)
GO Molecular Function (2): RNA binding (GO:0003723), rRNA binding (GO:0019843)
GO Cellular Component (3): nucleus (GO:0005634), nucleolus (GO:0005730), preribosome, large subunit precursor (GO:0030687)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| maturation of LSU-rRNA | 1 |
| RNA processing | 1 |
| rRNA metabolic process | 1 |
| ribosome biogenesis | 1 |
| nucleic acid binding | 1 |
| RNA binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| intracellular membraneless organelle | 1 |
| preribosome | 1 |
Protein interactions and networks
STRING
1882 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PPAN | P2RY11 | Q96G91 | 894 |
| PPAN | P2RY4 | P51582 | 826 |
| PPAN | EIF3G | O75821 | 781 |
| PPAN | P2RY1 | P47900 | 645 |
| PPAN | PPCDC | Q96CD2 | 577 |
| PPAN | RPF2 | Q9H7B2 | 559 |
| PPAN | NOL9 | Q5SY16 | 552 |
| PPAN | SRSF1 | Q07955 | 551 |
| PPAN | DDX51 | Q8N8A6 | 484 |
| PPAN | PES1 | O00541 | 482 |
| PPAN | PANK1 | Q8TE04 | 480 |
| PPAN | PPCS | Q9HAB8 | 478 |
| PPAN | RRP15 | Q9Y3B9 | 469 |
| PPAN | URB1 | O60287 | 464 |
| PPAN | SCEL | O95171 | 463 |
IntAct
192 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PIK3CB | PIK3R2 | psi-mi:“MI:0914”(association) | 0.860 |
| PTK2 | TGFB1I1 | psi-mi:“MI:0914”(association) | 0.680 |
| NPM1 | NVL | psi-mi:“MI:0914”(association) | 0.610 |
| NPM1 | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.610 |
| RPL28 | MAGEB2 | psi-mi:“MI:0914”(association) | 0.560 |
| N | NOP56 | psi-mi:“MI:0914”(association) | 0.530 |
| RPS3 | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
| RPL37A | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.530 |
| PPAN | PPM1G | psi-mi:“MI:0914”(association) | 0.530 |
| PRR11 | NVL | psi-mi:“MI:0914”(association) | 0.530 |
| RPL18A | RRP8 | psi-mi:“MI:0914”(association) | 0.530 |
| RPL30 | RRP8 | psi-mi:“MI:0914”(association) | 0.530 |
| MAGEB2 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| PTGES3 | AIP | psi-mi:“MI:0914”(association) | 0.530 |
| RPS2 | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.530 |
| NHSL3 | NCK2 | psi-mi:“MI:0914”(association) | 0.530 |
| RPL7A | NVL | psi-mi:“MI:0914”(association) | 0.530 |
| DAXX | TNRC18 | psi-mi:“MI:0914”(association) | 0.530 |
| JUN | TPM3 | psi-mi:“MI:0914”(association) | 0.350 |
| NP | IPO5 | psi-mi:“MI:0914”(association) | 0.350 |
| RRP1B | ZNF785 | psi-mi:“MI:0914”(association) | 0.350 |
| MKI67 | ARHGAP10 | psi-mi:“MI:0914”(association) | 0.350 |
| psi-mi:“MI:0914”(association) | 0.350 | ||
| Prdm16 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| Mecom | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| SCARB2 | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
| ESR1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| CAND1 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (431): PPAN (Affinity Capture-MS), PPAN (Affinity Capture-MS), PPAN-P2RY11 (Affinity Capture-MS), PPAN-P2RY11 (Affinity Capture-MS), PPAN-P2RY11 (Affinity Capture-MS), PPAN-P2RY11 (Affinity Capture-MS), PPAN-P2RY11 (Affinity Capture-MS), PPAN-P2RY11 (Affinity Capture-MS), PPAN-P2RY11 (Affinity Capture-MS), PPAN-P2RY11 (Affinity Capture-MS), PPAN-P2RY11 (Affinity Capture-MS), PPAN-P2RY11 (Affinity Capture-MS), PPAN (Reconstituted Complex), PPAN (Affinity Capture-MS), PPAN (Affinity Capture-MS)
ESM2 similar proteins: A0A0G2JV04, D4A1F2, F1MF74, F1QWK4, O54935, O75038, O94851, P18858, P18887, P37913, P41111, P49916, P51432, P51892, P58404, P78563, P97386, Q01970, Q12851, Q1HFZ0, Q3T058, Q3TX08, Q58DG1, Q5HZH2, Q5REM3, Q60596, Q61211, Q61749, Q63186, Q641W2, Q7ZU92, Q8BMI3, Q8BML1, Q8CG07, Q91YU8, Q92918, Q96T60, Q99JE6, Q9D2Q2, Q9ESZ0
Diamond homologs: O14206, P38789, Q12153, Q54N44, Q5REM3, Q91YU8, Q9ASU7, Q9NQ55, Q9VDE5
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 222 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Peptide chain elongation | 32 | 27.4× | 3e-36 |
| Viral mRNA Translation | 32 | 27.4× | 3e-36 |
| PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA | 32 | 27.1× | 4e-36 |
| Selenocysteine synthesis | 32 | 26.0× | 1e-35 |
| Eukaryotic Translation Termination | 32 | 26.0× | 1e-35 |
| Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC) | 32 | 25.5× | 2e-35 |
| ZNF598 and the Ribosome-associated Quality Trigger (RQT) complex dissociate a ribosome stalled on a no-go mRNA | 32 | 25.5× | 2e-35 |
| Eukaryotic Translation Initiation | 12 | 25.0× | 7e-13 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| negative regulation of DNA recombination | 6 | 34.0× | 2e-06 |
| cytoplasmic translation | 35 | 32.7× | 1e-41 |
| chromosome condensation | 6 | 25.5× | 1e-05 |
| ribosomal large subunit biogenesis | 8 | 17.9× | 2e-06 |
| translation | 33 | 17.1× | 8e-29 |
| ribosomal small subunit biogenesis | 13 | 14.9× | 8e-10 |
| negative regulation of proteasomal ubiquitin-dependent protein catabolic process | 6 | 12.2× | 8e-04 |
| rRNA processing | 16 | 11.4× | 2e-10 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
26 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 17 |
| Likely benign | 5 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 146077 | GRCh38/hg38 19p13.2(chr19:9735443-11228001)x1 | Pathogenic |
SpliceAI
1699 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:10106370:G:GT | donor_gain | 1.0000 |
| 19:10106408:G:GT | donor_gain | 1.0000 |
| 19:10106408:GGAGG:G | donor_gain | 1.0000 |
| 19:10106409:G:T | donor_gain | 1.0000 |
| 19:10106409:GAGG:G | donor_gain | 1.0000 |
| 19:10106409:GAGGG:G | donor_gain | 1.0000 |
| 19:10106410:A:T | donor_gain | 1.0000 |
| 19:10106411:GG:G | donor_gain | 1.0000 |
| 19:10106412:GG:G | donor_gain | 1.0000 |
| 19:10106413:G:GC | donor_loss | 1.0000 |
| 19:10106414:T:A | donor_loss | 1.0000 |
| 19:10106496:CGCA:C | acceptor_loss | 1.0000 |
| 19:10106497:GCAGT:G | acceptor_loss | 1.0000 |
| 19:10106498:CA:C | acceptor_loss | 1.0000 |
| 19:10106499:A:AG | acceptor_gain | 1.0000 |
| 19:10106500:G:GC | acceptor_gain | 1.0000 |
| 19:10106500:GT:G | acceptor_gain | 1.0000 |
| 19:10106500:GTCCC:G | acceptor_gain | 1.0000 |
| 19:10106668:GCAG:G | donor_gain | 1.0000 |
| 19:10106671:GGT:G | donor_loss | 1.0000 |
| 19:10106672:G:C | donor_loss | 1.0000 |
| 19:10106672:G:GG | donor_gain | 1.0000 |
| 19:10107493:T:A | acceptor_gain | 1.0000 |
| 19:10107493:T:TA | acceptor_gain | 1.0000 |
| 19:10107497:A:AG | acceptor_gain | 1.0000 |
| 19:10107498:T:G | acceptor_gain | 1.0000 |
| 19:10107503:A:AG | acceptor_gain | 1.0000 |
| 19:10107503:AG:A | acceptor_gain | 1.0000 |
| 19:10107504:G:GA | acceptor_gain | 1.0000 |
| 19:10107504:GG:G | acceptor_gain | 1.0000 |
AlphaMissense
3096 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 19:10110328:G:A | G276D | 0.998 |
| 19:10109701:G:C | R195P | 0.997 |
| 19:10110327:G:C | G276R | 0.996 |
| 19:10110331:C:A | P277Q | 0.996 |
| 19:10110334:G:C | R278P | 0.995 |
| 19:10110343:T:C | L281P | 0.995 |
| 19:10109652:C:A | R179S | 0.994 |
| 19:10109653:G:C | R179P | 0.994 |
| 19:10110331:C:G | P277R | 0.994 |
| 19:10110236:G:C | R271P | 0.993 |
| 19:10110328:G:T | G276V | 0.993 |
| 19:10106580:T:A | V33E | 0.992 |
| 19:10107545:C:A | A77D | 0.992 |
| 19:10109655:T:C | C180R | 0.992 |
| 19:10109662:T:C | L182P | 0.991 |
| 19:10110229:G:C | A269P | 0.991 |
| 19:10108040:T:C | L140P | 0.990 |
| 19:10109914:A:C | S198R | 0.990 |
| 19:10109916:C:A | S198R | 0.990 |
| 19:10109916:C:G | S198R | 0.990 |
| 19:10110233:T:A | V270E | 0.990 |
| 19:10110239:T:C | L272P | 0.990 |
| 19:10106634:G:C | R51P | 0.989 |
| 19:10107560:T:A | V82D | 0.989 |
| 19:10108046:T:A | V142E | 0.989 |
| 19:10109706:T:G | Y197D | 0.989 |
| 19:10110327:G:T | G276C | 0.989 |
| 19:10107847:T:A | V112D | 0.988 |
| 19:10108040:T:A | L140H | 0.988 |
| 19:10110239:T:A | L272H | 0.988 |
dbSNP variants (sampled 300 via entrez): RS1000302985 (19:10109677 C>G), RS1000836315 (19:10107201 G>T), RS1000867060 (19:10105519 A>G), RS1001462745 (19:10109292 G>A,C,T), RS1001777895 (19:10107007 T>A), RS1001914776 (19:10106782 A>G), RS1002304897 (19:10106455 C>A,T), RS1002810752 (19:10108551 T>C), RS1003260955 (19:10105247 G>A), RS1003399374 (19:10112297 C>A,T), RS1003619151 (19:10112377 G>C), RS1003777981 (19:10108865 T>C), RS1003913797 (19:10109469 C>A), RS1003961713 (19:10105328 A>C), RS1004113751 (19:10111622 CTG>C)
Disease associations
OMIM: gene MIM:607793 | disease phenotypes:
GenCC curated gene-disease
Mondo (1): narcolepsy-cataplexy syndrome (MONDO:0016158)
Orphanet (1): Narcolepsy type 1 (Orphanet:2073)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
36 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Estradiol | increases expression | 2 |
| Valproic Acid | decreases expression, increases methylation | 2 |
| Cyclosporine | increases expression | 2 |
| FR900359 | increases phosphorylation | 1 |
| beauvericin | decreases expression | 1 |
| alpha phellandrene | decreases expression | 1 |
| deoxynivalenol | increases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| gossypol acetic acid | increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| abrine | increases expression | 1 |
| NSC 689534 | decreases expression, affects binding | 1 |
| Temozolomide | increases expression | 1 |
| Air Pollutants | affects expression, increases abundance | 1 |
| Arsenic | affects methylation | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Cisplatin | decreases expression | 1 |
| Copper | affects binding, decreases expression | 1 |
| Cycloheximide | increases expression, affects cotreatment | 1 |
| Enzyme Inhibitors | decreases activity, increases O-linked glycosylation | 1 |
| Ethyl Methanesulfonate | decreases expression | 1 |
| Formaldehyde | decreases expression | 1 |
| Hydrogen Peroxide | affects expression | 1 |
| Methyl Methanesulfonate | decreases expression | 1 |
| Nickel | increases expression | 1 |
| Ozone | affects expression, increases abundance | 1 |
| Ribonucleotides | affects binding | 1 |
| Silicon Dioxide | increases expression | 1 |
| Smoke | decreases expression | 1 |
| Testosterone | increases expression | 1 |
Clinical trials (associated diseases)
49 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT02637076 | PHASE4 | COMPLETED | Xyrem and Brain Dopamine in Narcolepsy |
| NCT01800045 | PHASE3 | COMPLETED | Pitolisant to Assess Weekly Frequency of Cataplexy Attacks and EDS in Narcoleptic Patients (HARMONY CTP) |
| NCT02221869 | PHASE3 | COMPLETED | A Multicenter Study of the Efficacy and Safety of Xyrem With an Open- Label Pharmacokinetic Evaluation and Safety Extension in Pediatric Subjects With Narcolepsy With Cataplexy |
| NCT02611687 | PHASE3 | COMPLETED | Efficacy and Safety of Pitolisant in Pediatric Narcoleptic Patients With or Without Cataplexy, Double-blind Study Followed by a Prolonged Open-label Period |
| NCT03030599 | PHASE3 | COMPLETED | A Study of the Efficacy and Safety of JZP-258 in Subjects With Narcolepsy With Cataplexy |
| NCT05914194 | PHASE3 | NOT_YET_RECRUITING | A Eight-Week Study of NLS-2 (Mazindol Extended Release) in Participants With Narcolepsy Type 1 |
| NCT06470828 | PHASE3 | COMPLETED | A Study of TAK-861 for the Treatment of Narcolepsy Type 1 |
| NCT06505031 | PHASE3 | COMPLETED | A Study of TAK-861 in People With Narcolepsy Type 1 |
| NCT07363720 | PHASE3 | RECRUITING | A Trial of TAK-861 for the Treatment of Narcolepsy With Cataplexy |
| NCT07455383 | PHASE3 | RECRUITING | A Study to Evaluate the Efficacy and Safety of ALKS 2680 in Adults With Narcolepsy Type 1 |
| NCT07540897 | PHASE3 | RECRUITING | A Study to Evaluate the Efficacy, Safety and Tolerability of ALKS 2680 in Adults With Narcolepsy Type 1 (Brilliance NT1 - 304) |
| NCT04026958 | PHASE2 | COMPLETED | Clarithromycin Mechanisms in Hypersomnia Syndromes |
| NCT04096560 | PHASE2 | TERMINATED | A Study of TAK-994 in Adults With Type 1 and Type 2 Narcolepsy |
| NCT04820842 | PHASE2 | TERMINATED | A Study of TAK-994 in Adults With Narcolepsy |
| NCT05055024 | PHASE2 | COMPLETED | An Open Label Study of NLS-2 (Mazindol Extended Release) in Subjects With Narcolepsy |
| NCT05687903 | PHASE2 | COMPLETED | A Study of TAK-861 in Participants With Narcolepsy Type 1 |
| NCT06358950 | PHASE2 | COMPLETED | A Study to Evaluate the Safety and Effectiveness of ALKS 2680 in Subjects With Narcolepsy Type 1 (ALKS 2680-201) |
| NCT06752668 | PHASE2 | RECRUITING | A Study of ORX750 in Participants With Narcolepsy and Idiopathic Hypersomnia |
| NCT06809803 | PHASE2 | RECRUITING | Extended-release Sodium Oxybate in Children |
| NCT07096674 | PHASE2 | RECRUITING | A Long-term Extension Study of ORX750 in Participants With Narcolepsy and Idiopathic Hypersomnia |
| NCT00345800 | PHASE1 | COMPLETED | Exploratory Clinical Study to Evaluate Sodium Oxybate (Xyrem) on Potential Endocrine Changes |
| NCT06462404 | PHASE1 | COMPLETED | A Study to Evaluate the Efficacy, Safety, and Tolerability of E2086 Compared to Placebo and Active Comparator in Adult Participants With Narcolepsy Type 1 |
| NCT07584434 | PHASE1 | NOT_YET_RECRUITING | A Phase 1, First-in-human Study of VX-433 |
| NCT05816382 | PHASE2/PHASE3 | RECRUITING | A Study of TAK-861 for the Treatment of Selected Central Hypersomnia Conditions |
| NCT06767683 | PHASE2/PHASE3 | RECRUITING | A Long-Term Study of ALKS 2680 in Subjects With Narcolepsy and Idiopathic Hypersomnia |
| NCT07598708 | PHASE2/PHASE3 | NOT_YET_RECRUITING | A Study to Investigate the Effects of Cleminorexton Compared With Placebo in the Treatment of Participants With Central Disorders of Hypersomnolence |
| NCT03433131 | Not specified | NO_LONGER_AVAILABLE | Expanded Access Program to Provide Treatment With Pitolisant to Adult Patients in the U.S. With Excessive Daytime Sleepiness Associated With Narcolepsy With or Without Cataplexy |
| NCT04306952 | Not specified | COMPLETED | Awareness and Self-Compassion Enhancing Narcolepsy Treatment |
| NCT04419792 | Not specified | SUSPENDED | ‘A Profile of Physical Performance Variables in an Out-patient Adult Population With Narcolepsy’ |
| NCT04445129 | Not specified | COMPLETED | Wake and Sleep State Transitions on a Portable Electroencephalogram (EEG) Device in Narcolepsy Type 1 (NT1) and Healthy Participants |
| NCT04483310 | Not specified | UNKNOWN | Meditation-Relaxation (MR Therapy) for Sleep Paralysis. |
| NCT05314556 | Not specified | COMPLETED | Group Psychotherapy in Narcolepsy Type 1 |
| NCT05375890 | Not specified | COMPLETED | Clinical and Neurophysiological Characteristics of Narcolepsy |
| NCT05460052 | Not specified | COMPLETED | Evaluation of the Effectiveness of a Physical Activity Program on the Severity of Narcolepsy |
| NCT05709873 | Not specified | COMPLETED | Narcolepsy Nightmare Study |
| NCT05967832 | Not specified | UNKNOWN | Contribution of 7 Tesla MRI of the Hypothalamus in the Diagnosis of Type 1 Narcolepsy |
| NCT05983731 | Not specified | UNKNOWN | A Pilot Observational Study to Assess the Ability of Continuous ‘Home’ EEG to Accurately Diagnose Narcolepsy and Demonstrate Response to Treatment |
| NCT06241911 | Not specified | COMPLETED | Transcutaneous Auricular Vagus Nerve Stimulation in Patients With Narcolepsy Type 1 |
| NCT06251063 | Not specified | COMPLETED | Improving Social Relationships for Adolescents With Central Disorders of Hypersomnolence |
| NCT06292598 | Not specified | RECRUITING | Bacterial Translocation and Gut Microbiota in Type 1 Narcolepsy Patients Versus a Control Population |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): narcolepsy-cataplexy syndrome