MPP4
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Summary
MPP4 (MAGUK p55 scaffold protein 4, HGNC:13680) is a protein-coding gene on chromosome 2q33.1, encoding MAGUK p55 subfamily member 4 (Q96JB8). May play a role in retinal photoreceptors development.
This gene encodes a member of the membrane-associated guanylate kinase (MAGUK) protein family, with an N-terminal PDZ domain, a central src homology 3 region (SH3), and a C-terminal guanylate kinase-like (GUK) domain. The protein is localized to the outer limiting membrane in the retina, and is thought to function in photoreceptor polarity and the organization of specialized intercellular junctions. Alternatively spliced transcript variants have been described, but their biological validity has not been determined.
Source: NCBI Gene 58538 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 113 total — 2 pathogenic
- MANE Select transcript:
NM_033066
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:13680 |
| Approved symbol | MPP4 |
| Name | MAGUK p55 scaffold protein 4 |
| Location | 2q33.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000082126 |
| Ensembl biotype | protein_coding |
| OMIM | 606575 |
| Entrez | 58538 |
Gene structure
Transcript identifiers
Ensembl transcripts: 14 — 11 protein_coding, 2 retained_intron, 1 nonsense_mediated_decay
ENST00000315506, ENST00000359962, ENST00000396886, ENST00000409143, ENST00000409474, ENST00000409818, ENST00000428900, ENST00000447335, ENST00000483841, ENST00000486212, ENST00000602867, ENST00000620095, ENST00000959424, ENST00000959425
RefSeq mRNA: 1 — MANE Select: NM_033066
NM_033066
CCDS: CCDS46491
Canonical transcript exons
ENST00000409474 — 22 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001172760 | 201675207 | 201675271 |
| ENSE00001330653 | 201685919 | 201686050 |
| ENSE00001424090 | 201666334 | 201666372 |
| ENSE00001623453 | 201650072 | 201650165 |
| ENSE00003266762 | 201649576 | 201649684 |
| ENSE00003304876 | 201647691 | 201647825 |
| ENSE00003467422 | 201685064 | 201685145 |
| ENSE00003478496 | 201658477 | 201658518 |
| ENSE00003510791 | 201680838 | 201681034 |
| ENSE00003512162 | 201687291 | 201687371 |
| ENSE00003551864 | 201682831 | 201682916 |
| ENSE00003581681 | 201690202 | 201690279 |
| ENSE00003599982 | 201664081 | 201664101 |
| ENSE00003600468 | 201656198 | 201656368 |
| ENSE00003627926 | 201692908 | 201693029 |
| ENSE00003646870 | 201669733 | 201669750 |
| ENSE00003662607 | 201654837 | 201654917 |
| ENSE00003665545 | 201681496 | 201681567 |
| ENSE00003668186 | 201693876 | 201694054 |
| ENSE00003680425 | 201660332 | 201660346 |
| ENSE00003842604 | 201698587 | 201698644 |
| ENSE00003844181 | 201644874 | 201645404 |
Expression profiles
Bgee: expression breadth ubiquitous, 122 present calls, max score 80.31.
FANTOM5 (CAGE): breadth broad, TPM avg 1.4867 / max 156.0572, expressed in 435 samples.
FANTOM5 promoters (11 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 33255 | 0.4622 | 179 |
| 33252 | 0.3591 | 204 |
| 33256 | 0.2268 | 112 |
| 33248 | 0.1460 | 60 |
| 33249 | 0.0815 | 29 |
| 33250 | 0.0678 | 21 |
| 33257 | 0.0491 | 14 |
| 33251 | 0.0422 | 14 |
| 33253 | 0.0236 | 6 |
| 33258 | 0.0208 | 6 |
Top tissues by expression
223 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| secondary oocyte | CL:0000655 | 80.31 | gold quality |
| oocyte | CL:0000023 | 77.00 | silver quality |
| cerebellar hemisphere | UBERON:0002245 | 65.84 | gold quality |
| cerebellar cortex | UBERON:0002129 | 65.78 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 64.75 | gold quality |
| cerebellum | UBERON:0002037 | 64.46 | gold quality |
| stromal cell of endometrium | CL:0002255 | 62.27 | gold quality |
| sural nerve | UBERON:0015488 | 59.68 | gold quality |
| spleen | UBERON:0002106 | 57.59 | gold quality |
| vena cava | UBERON:0004087 | 57.47 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 55.44 | gold quality |
| ectocervix | UBERON:0012249 | 55.02 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 54.47 | gold quality |
| left adrenal gland | UBERON:0001234 | 54.08 | gold quality |
| parotid gland | UBERON:0001831 | 53.82 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 53.71 | gold quality |
| islet of Langerhans | UBERON:0000006 | 52.72 | gold quality |
| right adrenal gland | UBERON:0001233 | 52.50 | gold quality |
| adrenal cortex | UBERON:0001235 | 52.49 | gold quality |
| retina | UBERON:0000966 | 52.47 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 52.46 | silver quality |
| right adrenal gland cortex | UBERON:0035827 | 52.36 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 51.63 | gold quality |
| adrenal gland | UBERON:0002369 | 51.45 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 50.65 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 50.52 | gold quality |
| vagina | UBERON:0000996 | 49.87 | gold quality |
| right frontal lobe | UBERON:0002810 | 49.28 | gold quality |
| right lung | UBERON:0002167 | 49.04 | gold quality |
| endocervix | UBERON:0000458 | 48.82 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-137537 | yes | 1779.42 |
| E-MTAB-7316 | yes | 34.34 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
22 targeting MPP4, 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-200B-3P | 100.00 | 73.31 | 2693 |
| HSA-MIR-200C-3P | 100.00 | 73.35 | 2685 |
| HSA-MIR-429 | 100.00 | 73.44 | 2698 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-3143 | 99.93 | 71.96 | 3104 |
| HSA-MIR-3671 | 99.90 | 73.04 | 3897 |
| HSA-MIR-95-5P | 99.89 | 72.17 | 3973 |
| HSA-MIR-4310 | 99.59 | 68.84 | 2527 |
| HSA-MIR-12123 | 99.52 | 71.79 | 2990 |
| HSA-MIR-766-3P | 99.47 | 65.24 | 1811 |
| HSA-MIR-302A-5P | 99.39 | 68.21 | 1913 |
| HSA-MIR-5190 | 99.15 | 67.76 | 1234 |
| HSA-MIR-3164 | 99.02 | 68.39 | 1071 |
| HSA-MIR-6820-3P | 99.02 | 68.50 | 1035 |
| HSA-MIR-3613-5P | 98.40 | 68.91 | 604 |
| HSA-MIR-338-3P | 98.14 | 67.38 | 1137 |
| HSA-MIR-6841-5P | 97.19 | 67.29 | 409 |
| HSA-MIR-382-5P | 96.71 | 65.90 | 762 |
| HSA-MIR-597-3P | 96.46 | 68.03 | 1035 |
| HSA-MIR-4793-3P | 94.87 | 65.85 | 896 |
Literature-anchored findings (GeneRIF, showing 2)
- MPP4 gene is highly expressed in retina, but no mutations were identified in a panel of 300 unrelated patients with retinitis pigmentosa. (PMID:12384283)
- Bipolar disorder participants with a history of Suicidal behavior showed less overall methylation in the 5’ untranslated region of Membrane palmitoylated protein 4 . (PMID:28276657)
Cross-species orthologs
9 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | mpp4l | ENSDARG00000009386 |
| danio_rerio | mpp4a | ENSDARG00000058222 |
| danio_rerio | mpp4b | ENSDARG00000076872 |
| mus_musculus | Mpp4 | ENSMUSG00000079550 |
| rattus_norvegicus | Mpp4 | ENSRNOG00000010486 |
| drosophila_melanogaster | metro | FBGN0050021 |
| drosophila_melanogaster | vari | FBGN0250785 |
| caenorhabditis_elegans | magu-3 | WBGENE00016841 |
| caenorhabditis_elegans | WBGENE00021914 |
Paralogs (7): PALS1 (ENSG00000072415), PALS2 (ENSG00000105926), MPP2 (ENSG00000108852), MPP1 (ENSG00000130830), CASK (ENSG00000147044), MPP7 (ENSG00000150054), MPP3 (ENSG00000161647)
Protein
Protein identifiers
MAGUK p55 subfamily member 4 — Q96JB8 (reviewed: Q96JB8)
Alternative names: Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 5 protein, Discs large homolog 6
All UniProt accessions (8): Q96JB8, A0A087WUS1, E7ET46, E7EUL8, E9PG92, F6Q0Y6, F8WBH8, R4GN59
UniProt curated annotations — full annotation on UniProt →
Function. May play a role in retinal photoreceptors development.
Subunit / interactions. Interacts with MPDZ. May interact with GRIA2. Forms a complex with CRB1 and PALS1. Interacts with FASLG.
Subcellular location. Cytoplasm.
Tissue specificity. Expressed in the retina (at protein level). Highly expressed in the retina. Lower amounts are detected in brain, testis, ARPE-19, RPE/choroid and fetal eye. Isoform 5 is retina-specific.
Similarity. Belongs to the MAGUK family.
Isoforms (5)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q96JB8-1 | 1 | yes |
| Q96JB8-2 | 2 | |
| Q96JB8-3 | 3 | |
| Q96JB8-4 | 4 | |
| Q96JB8-5 | 5 |
RefSeq proteins (1): NP_149055* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001452 | SH3_domain | Domain |
| IPR001478 | PDZ | Domain |
| IPR004172 | L27_dom | Domain |
| IPR008144 | Guanylate_kin-like_dom | Domain |
| IPR008145 | GK/Ca_channel_bsu | Domain |
| IPR014775 | L27_C | Domain |
| IPR020590 | Guanylate_kinase_CS | Conserved_site |
| IPR027417 | P-loop_NTPase | Homologous_superfamily |
| IPR035600 | MPP4_SH3 | Domain |
| IPR036028 | SH3-like_dom_sf | Homologous_superfamily |
| IPR036034 | PDZ_sf | Homologous_superfamily |
| IPR036892 | L27_dom_sf | Homologous_superfamily |
| IPR050716 | MAGUK | Family |
Pfam: PF00595, PF00625, PF02828
UniProt features (19 total): splice variant 7, domain 5, sequence variant 2, chain 1, sequence conflict 1, region of interest 1, coiled-coil region 1, compositionally biased region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96JB8-F1 | 76.39 | 0.42 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 60 (showing top):
HORIUCHI_WTAP_TARGETS_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, OCT1_03, SENESE_HDAC1_TARGETS_UP, GOBP_PROTEIN_LOCALIZATION_TO_SYNAPSE, HAN_SATB1_TARGETS_DN, GOCC_CELL_CELL_JUNCTION, MODULE_95, TUOMISTO_TUMOR_SUPPRESSION_BY_COL13A1_DN, GOCC_ANCHORING_JUNCTION, MATSUDA_NATURAL_KILLER_DIFFERENTIATION, BHATI_G2M_ARREST_BY_2METHOXYESTRADIOL_UP, GOBP_PROTEIN_LOCALIZATION_TO_CELL_JUNCTION, MODULE_163
GO Biological Process (2): protein localization to synapse (GO:0035418), intracellular protein localization (GO:0008104)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (8): cytosol (GO:0005829), plasma membrane (GO:0005886), adherens junction (GO:0005912), actin cytoskeleton (GO:0015629), protein-containing complex (GO:0032991), cytoplasm (GO:0005737), membrane (GO:0016020), anchoring junction (GO:0070161)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| protein localization to cell junction | 1 |
| macromolecule localization | 1 |
| binding | 1 |
| cytoplasm | 1 |
| membrane | 1 |
| cell periphery | 1 |
| cell-cell junction | 1 |
| cytoskeleton | 1 |
| cellular_component | 1 |
| intracellular anatomical structure | 1 |
| cell junction | 1 |
Protein interactions and networks
STRING
1100 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MPP4 | GRK7 | Q8WTQ7 | 762 |
| MPP4 | ITPR2 | Q14571 | 750 |
| MPP4 | GRK1 | Q15835 | 741 |
| MPP4 | RCVRN | P35243 | 714 |
| MPP4 | ATP2A2 | P16614 | 592 |
| MPP4 | RHO | P08100 | 507 |
| MPP4 | PDZD9 | Q8IXQ8 | 507 |
| MPP4 | CDK2AP1 | O14519 | 430 |
| MPP4 | CRB2 | Q5IJ48 | 416 |
| MPP4 | XKR3 | Q5GH77 | 400 |
| MPP4 | ZC3H11B | A0A1B0GTU1 | 398 |
| MPP4 | ORMDL2 | Q53FV1 | 384 |
| MPP4 | CMSS1 | Q9BQ75 | 351 |
| MPP4 | GART | P22102 | 348 |
| MPP4 | CCPG1 | Q9ULG6 | 336 |
IntAct
35 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PALS1 | MPP4 | psi-mi:“MI:0915”(physical association) | 0.630 |
| MPP4 | CRB1 | psi-mi:“MI:0915”(physical association) | 0.520 |
| MPP4 | FASLG | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| CREBBP | MPP4 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| ABCC4 | MPP4 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| ARHGEF16 | MPP4 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| ASIC3 | MPP4 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| ATP2B4 | MPP4 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| CYSLTR2 | MPP4 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| DGKK | MPP4 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| DGKZ | MPP4 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| DOCK4 | MPP4 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| FRMPD4 | MPP4 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| FZD7 | MPP4 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| TAMALIN | MPP4 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| E6 | MPP4 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| ORF putative E6 | MPP4 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| KCNA5 | MPP4 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| KIR3DL3 | MPP4 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| MAP2K2 | MPP4 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| PBK | MPP4 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| RALBP1 | MPP4 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| RASSF6 | MPP4 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
BioGRID (4): PLEKHF2 (Two-hybrid), MPP4 (Affinity Capture-MS), MPP4 (Reconstituted Complex), MPP4 (Protein-peptide)
ESM2 similar proteins: A0AVI2, A0FGR9, A0JP70, A2AAJ9, A2ABU4, A2RUH7, A6QQP7, O01761, O14976, O15068, O70145, O70468, O75923, O77775, O88599, P0C5E3, P11799, P19878, P56741, P70402, P70600, P97874, Q05623, Q13203, Q14289, Q15746, Q29RQ5, Q3UMY5, Q5DTI8, Q5FW53, Q5PQM4, Q5RKG2, Q5VST9, Q5VTT5, Q62234, Q64096, Q6P7F1, Q7ZZC8, Q80W93, Q8C7M3
Diamond homologs: A6QQZ7, A8KBF6, A9CB74, B4F7E7, D3ZAA9, E2QY99, G5ECY0, O14936, O34328, O70589, O88910, O88954, P0C0M9, P15454, P31006, P31007, P44310, P46195, P49697, P54936, P65219, P65220, P65221, P70175, P70290, P72648, P93757, P99176, Q00013, Q13368, Q14168, Q15700, Q16774, Q17QN6, Q182S8, Q24210, Q2FHM9, Q2G1U0, Q2QPW1, Q2S8R2
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
113 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 2 |
| Likely pathogenic | 0 |
| Uncertain significance | 95 |
| Likely benign | 6 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (2)
| Variant ID | HGVS | Classification |
|---|---|---|
| 2423585 | NC_000002.11:g.(?202501451)(202633608_?)del | Pathogenic |
| 375383 | NM_033066.3(MPP4):c.946T>C (p.Trp316Arg) | Pathogenic |
SpliceAI
2976 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:201645404:CCTT:C | acceptor_gain | 1.0000 |
| 2:201645407:T:C | acceptor_gain | 1.0000 |
| 2:201645416:A:AC | acceptor_gain | 1.0000 |
| 2:201647687:TTACC:T | donor_loss | 1.0000 |
| 2:201647688:TACCT:T | donor_loss | 1.0000 |
| 2:201647689:A:AC | donor_gain | 1.0000 |
| 2:201647689:A:T | donor_loss | 1.0000 |
| 2:201647690:C:CC | donor_gain | 1.0000 |
| 2:201647690:CCTTG:C | donor_loss | 1.0000 |
| 2:201647822:TATC:T | acceptor_gain | 1.0000 |
| 2:201647824:TC:T | acceptor_gain | 1.0000 |
| 2:201647824:TCC:T | acceptor_loss | 1.0000 |
| 2:201647825:CC:C | acceptor_gain | 1.0000 |
| 2:201647826:C:CC | acceptor_gain | 1.0000 |
| 2:201654835:A:AC | donor_gain | 1.0000 |
| 2:201654836:C:CC | donor_gain | 1.0000 |
| 2:201680837:CCT:C | donor_gain | 1.0000 |
| 2:201681492:TTACC:T | donor_loss | 1.0000 |
| 2:201681493:TACCA:T | donor_loss | 1.0000 |
| 2:201681494:A:AT | donor_loss | 1.0000 |
| 2:201681495:C:CT | donor_loss | 1.0000 |
| 2:201681495:CCAT:C | donor_gain | 1.0000 |
| 2:201681564:TGGC:T | acceptor_gain | 1.0000 |
| 2:201682826:TTTA:T | donor_loss | 1.0000 |
| 2:201682827:TTA:T | donor_loss | 1.0000 |
| 2:201682828:TACCA:T | donor_loss | 1.0000 |
| 2:201682829:ACCA:A | donor_loss | 1.0000 |
| 2:201682912:CAACC:C | acceptor_gain | 1.0000 |
| 2:201682915:CC:C | acceptor_gain | 1.0000 |
| 2:201682916:CC:C | acceptor_gain | 1.0000 |
AlphaMissense
4227 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:201685135:A:T | I168N | 0.995 |
| 2:201649646:C:T | G505D | 0.993 |
| 2:201680911:A:G | W286R | 0.993 |
| 2:201680911:A:T | W286R | 0.993 |
| 2:201681542:A:G | F229S | 0.993 |
| 2:201650121:A:G | Y476H | 0.992 |
| 2:201654890:A:G | L443P | 0.991 |
| 2:201650156:C:G | R464P | 0.990 |
| 2:201680940:A:G | L276P | 0.990 |
| 2:201685135:A:C | I168S | 0.989 |
| 2:201685141:G:T | A166D | 0.989 |
| 2:201645254:A:G | W624R | 0.988 |
| 2:201645254:A:T | W624R | 0.988 |
| 2:201650157:G:T | R464S | 0.988 |
| 2:201654878:A:G | L447P | 0.988 |
| 2:201647782:A:T | I543K | 0.987 |
| 2:201649595:A:T | V522D | 0.987 |
| 2:201680862:A:T | V302D | 0.987 |
| 2:201680909:C:A | W286C | 0.987 |
| 2:201680909:C:G | W286C | 0.987 |
| 2:201685096:C:A | R181M | 0.987 |
| 2:201685142:C:G | A166P | 0.987 |
| 2:201656198:C:G | G434R | 0.986 |
| 2:201656198:C:T | G434R | 0.986 |
| 2:201654886:T:A | R444S | 0.985 |
| 2:201654886:T:G | R444S | 0.985 |
| 2:201680901:G:T | A289D | 0.985 |
| 2:201680908:A:G | W287R | 0.985 |
| 2:201680908:A:T | W287R | 0.985 |
| 2:201680957:G:C | F270L | 0.985 |
dbSNP variants (sampled 300 via entrez): RS1000025660 (2:201654123 G>A), RS1000062319 (2:201660615 G>A), RS1000137274 (2:201673919 T>C), RS1000213495 (2:201675101 C>T), RS1000225998 (2:201678095 T>C), RS1000246032 (2:201683960 C>T), RS1000305673 (2:201686434 C>T), RS1000437095 (2:201690400 T>G), RS1000490182 (2:201647919 A>G), RS1000491431 (2:201668054 C>T), RS1000505633 (2:201698401 TCTCGAAGCA>T), RS1000522402 (2:201669350 C>T), RS1000545668 (2:201665279 G>C), RS1000587322 (2:201676051 T>C), RS1000647501 (2:201674836 T>C)
Disease associations
OMIM: gene MIM:606575 | disease phenotypes: MIM:607225, MIM:614424
GenCC curated gene-disease
Mondo (4): infantile-onset ascending hereditary spastic paralysis (MONDO:0011797), Joubert syndrome 14 (MONDO:0013745), intellectual disability (MONDO:0001071), strabismus (MONDO:0003432)
Orphanet (2): Infantile-onset ascending hereditary spastic paralysis (Orphanet:293168), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
MeSH disease descriptors (3)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D008607 | Intellectual Disability | C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539 |
| D013285 | Strabismus | C10.292.562.887; C11.590.810 |
| C537217 | Hereditary spastic paralysis, infantile onset ascending (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
18 total (human), top 18 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| (+)-JQ1 compound | decreases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| propionaldehyde | increases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| potassium chromate(VI) | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Arsenic Trioxide | increases expression | 1 |
| Benzo(a)pyrene | affects methylation, increases methylation | 1 |
| Formaldehyde | decreases expression | 1 |
| Oxygen | increases expression | 1 |
| Silicon Dioxide | increases expression | 1 |
| Smoke | decreases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Tretinoin | increases expression | 1 |
| Vanadates | increases expression | 1 |
| Aflatoxin B1 | increases methylation | 1 |
Clinical trials (associated diseases)
299 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT05657860 | PHASE4 | COMPLETED | Guanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome |
| NCT05744479 | PHASE4 | RECRUITING | Metformin for Antipsychotic-induced Weight Gain in Adults With Intellectual Disability |
| NCT06107829 | PHASE4 | WITHDRAWN | Valbenazine Treatment of Tardive Dyskinesia in Adults With Intellectual/Developmental Disabilities |
| NCT06997198 | PHASE4 | NOT_YET_RECRUITING | Deutetrabenazine Treatment for Tardive Dyskinesia in Intellectual/Developmental Disabilities |
| NCT00461656 | PHASE4 | COMPLETED | Povidone-iodine Antisepsis for Strabismus Surgery |
| NCT01901588 | PHASE4 | COMPLETED | Efficacy of Single-Shot Dexmedetomidine Versus Placebo in Preventing Pediatric Emergence Delirium in Strabismus Surgery |
| NCT02379546 | PHASE4 | COMPLETED | The Effect of Anaesthesia Depth on Oculo-cardiac Reflex |
| NCT03349515 | PHASE4 | COMPLETED | The Effect of Povidone-iodine Ophthalmic Surgical Prep Solution on Respiration in Children Undergoing Strabismus Surgery With General Anesthesia. |
| NCT04549844 | PHASE4 | UNKNOWN | Peribulbar Block for Prevention of Oculocardiac Reflex |
| NCT06035757 | PHASE4 | RECRUITING | The Occurrence of Emergence Agitation in Pediatric Strabismus Surgery |
| NCT06560268 | PHASE4 | NOT_YET_RECRUITING | Low Flow Anesthesia in Children Undergoing Strabismus Surgery |
| NCT02270736 | PHASE3 | COMPLETED | Clinical Study to Investigate the Efficacy and Safety of NT 201 Compared to Placebo in the Treatment of Chronic Troublesome Drooling Associated With Neurological Disorders and/or Intellectual Disability |
| NCT00000128 | PHASE3 | UNKNOWN | A Trial of Bifocals in Myopic Children With Esophoria |
| NCT00001864 | PHASE3 | COMPLETED | Amblyopia (Lazy Eye) Treatment Study |
| NCT00038753 | PHASE3 | UNKNOWN | Vision In Preschoolers Study (VIP Study) |
| NCT01584843 | PHASE3 | COMPLETED | Efficacy and Safety of GSK1358820 (Botulinum Toxin Type A) in Patients With Strabismus |
| NCT04060771 | PHASE3 | UNKNOWN | Post-Operative Nausea and Vomiting in Children Submitted to Strabismus Surgery |
| NCT06863675 | PHASE3 | NOT_YET_RECRUITING | Highly Aspherical Lenslet (HAL) and Binocular Vision (BV) Disorders [HALT X(T) Study] |
| NCT02304302 | PHASE2 | COMPLETED | Down Syndrome Memantine Follow-up Study |
| NCT03862950 | PHASE2 | COMPLETED | A Trial of Metformin in Individuals With Fragile X Syndrome (Met) |
| NCT04529226 | PHASE2 | UNKNOWN | Study to Compare Clozapine vs Treatment as Usual in People With Intellectual Disability & Treatment-resistant Psychosis |
| NCT04821856 | PHASE2 | COMPLETED | Evaluation of the Effectiveness of Cannabidiol in Treating Severe Behavioural Problems in Children and Adolescents With Intellectual Disability |
| NCT00478907 | PHASE2 | COMPLETED | Prevention of Complications of Eye Surgery |
| NCT06689943 | PHASE2 | NOT_YET_RECRUITING | Pain After Strabismus Surgery |
| NCT05273320 | PHASE1 | COMPLETED | Clinical Trial of Nabilone for Aggression in Adults With Intellectual and Developmental Disabilities |
| NCT05301361 | PHASE1 | ENROLLING_BY_INVITATION | Sensitivity of the NIH Toolbox to Stimulant Treatment in Intellectual Disabilities |
| NCT06016764 | PHASE1 | COMPLETED | Use of MRI and cTBS for Catatonia in Autism |
| NCT06586827 | PHASE1 | COMPLETED | Impact of Competency-Based Training and Technical Assistance Employment Outcomes of Individuals With ID/DD |
| NCT07531940 | PHASE1 | NOT_YET_RECRUITING | Escalating Doses of Memantine in Down Syndrome (MEDS-123) |
| NCT00917982 | PHASE1 | UNKNOWN | The Effect of Vision Therapy/Orthoptic on Motor & Sensory Status of the 3 to 7 Years Old Strabismic Patients |
| NCT02246556 | PHASE1 | TERMINATED | Dichoptic Virtual Reality Therapy for Amblyopia in Adults |
| NCT03479476 | PHASE2/PHASE3 | COMPLETED | A Trial of Metformin in Individuals With Fragile X Syndrome |
| NCT02616796 | PHASE1/PHASE2 | COMPLETED | Effects of Social Gaze Training on Brain and Behavior in Fragile X Syndrome |
| NCT06860672 | EARLY_PHASE1 | RECRUITING | Clinical Trial of the Dual Vector Base Editor for the Treatment of the CHD3-R1025W Mutation |
| NCT00597948 | Not specified | COMPLETED | Healthy Lifestyles for People With Intellectual Disabilities |
| NCT01087320 | Not specified | RECRUITING | Genome Medical Sequencing for Gene Discovery |
| NCT01652963 | Not specified | UNKNOWN | Picture-based Computerised Assessment and Training of Cognitive Behaviour Therapy Skills |
| NCT01695395 | Not specified | COMPLETED | Mental Health Care Provision for Adults With Intellectual Disability and a Mental Disorder |
| NCT01867554 | Not specified | COMPLETED | Research and Characterization of New Genes Involved in Intellectual Disability |
| NCT01915381 | Not specified | COMPLETED | Improving Adherence Healthy Lifestyle With a Smartphone Application Based on Adults With Intellectual Disabilities |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): infantile-onset ascending hereditary spastic paralysis, Joubert syndrome 14, strabismus