PPTC7
gene geneOn this page
Also known as TA-PP2C
Summary
PPTC7 (protein phosphatase targeting COQ7, HGNC:30695) is a protein-coding gene on chromosome 12q24.11, encoding Protein phosphatase PTC7 homolog (Q8NI37). Protein phosphatase that plays an essential role in mitochondrial metabolism and biogenesis.
Enables protein serine/threonine phosphatase activity and protein-macromolecule adaptor activity. Involved in negative regulation of mitophagy and positive regulation of ubiquinone biosynthetic process. Located in mitochondrial matrix. Is active in mitochondrial outer membrane.
Source: NCBI Gene 160760 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 29 total — 1 pathogenic, 2 likely-pathogenic
- MANE Select transcript:
NM_139283
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:30695 |
| Approved symbol | PPTC7 |
| Name | protein phosphatase targeting COQ7 |
| Location | 12q24.11 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | TA-PP2C |
| Ensembl gene | ENSG00000196850 |
| Ensembl biotype | protein_coding |
| OMIM | 609668 |
| Entrez | 160760 |
Gene structure
Transcript identifiers
Ensembl transcripts: 8 — 7 protein_coding, 1 retained_intron
ENST00000354300, ENST00000548721, ENST00000905428, ENST00000905429, ENST00000905430, ENST00000905431, ENST00000931173, ENST00000965725
RefSeq mRNA: 1 — MANE Select: NM_139283
NM_139283
CCDS: CCDS9149
Canonical transcript exons
ENST00000354300 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000938089 | 110545880 | 110546078 |
| ENSE00001237630 | 110533245 | 110537095 |
| ENSE00001512714 | 110582809 | 110583318 |
| ENSE00001778958 | 110551789 | 110551968 |
| ENSE00003675538 | 110538144 | 110538273 |
| ENSE00003686491 | 110539822 | 110539945 |
Expression profiles
Bgee: expression breadth ubiquitous, 256 present calls, max score 99.58.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 19.3700 / max 428.2626, expressed in 1800 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 133245 | 18.8406 | 1800 |
| 133243 | 0.4924 | 98 |
| 133244 | 0.0370 | 14 |
Top tissues by expression
256 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| left ventricle myocardium | UBERON:0006566 | 99.58 | gold quality |
| deltoid | UBERON:0001476 | 99.05 | gold quality |
| tibialis anterior | UBERON:0001385 | 99.00 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 98.86 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 98.79 | gold quality |
| vastus lateralis | UBERON:0001379 | 98.76 | gold quality |
| biceps brachii | UBERON:0001507 | 98.72 | gold quality |
| heart right ventricle | UBERON:0002080 | 98.58 | gold quality |
| body of tongue | UBERON:0011876 | 98.45 | gold quality |
| myocardium | UBERON:0002349 | 98.41 | gold quality |
| secondary oocyte | CL:0000655 | 98.36 | gold quality |
| kidney epithelium | UBERON:0004819 | 98.34 | gold quality |
| quadriceps femoris | UBERON:0001377 | 98.32 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 98.19 | gold quality |
| tongue | UBERON:0001723 | 97.79 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 97.45 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 97.38 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 97.31 | gold quality |
| upper arm skin | UBERON:0004263 | 96.92 | gold quality |
| visceral pleura | UBERON:0002401 | 96.90 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 96.85 | gold quality |
| cauda epididymis | UBERON:0004360 | 96.85 | gold quality |
| superior surface of tongue | UBERON:0007371 | 96.82 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 96.77 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 96.75 | gold quality |
| trachea | UBERON:0003126 | 96.62 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 96.55 | gold quality |
| vena cava | UBERON:0004087 | 96.53 | gold quality |
| pons | UBERON:0000988 | 96.49 | gold quality |
| mammalian vulva | UBERON:0000997 | 96.40 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 7.32 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
210 targeting PPTC7, 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-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-33A-5P | 99.99 | 68.62 | 1055 |
| HSA-MIR-33B-5P | 99.99 | 68.58 | 1062 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-4500 | 99.99 | 72.72 | 2367 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-19A-3P | 99.98 | 75.33 | 2762 |
| HSA-MIR-19B-3P | 99.98 | 75.44 | 2754 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-1468-3P | 99.96 | 72.74 | 3797 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
Literature-anchored findings (GeneRIF, showing 3)
- Microarray evidence for coexpression of TA-PP2C with IL2 in T-cells and other cell types. (PMID:15177553)
- PPTC7 is a regulatory protein of CoQ10 biosynthesis required for human cell survival. (PMID:30267671)
- PPTC7 antagonizes mitophagy by promoting BNIP3 and NIX degradation via SCF[FBXL4]. (PMID:38992176)
Cross-species orthologs
8 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | pptc7a | ENSDARG00000011122 |
| danio_rerio | pptc7b | ENSDARG00000052658 |
| mus_musculus | Pptc7 | ENSMUSG00000038582 |
| rattus_norvegicus | Pptc7 | ENSRNOG00000021440 |
| drosophila_melanogaster | CG15035 | FBGN0029949 |
| drosophila_melanogaster | CG12091 | FBGN0035228 |
| drosophila_melanogaster | fig | FBGN0039694 |
| caenorhabditis_elegans | WBGENE00012362 |
Protein
Protein identifiers
Protein phosphatase PTC7 homolog — Q8NI37 (reviewed: Q8NI37)
Alternative names: T-cell activation protein phosphatase 2C, T-cell activation protein phosphatase 2C-like
All UniProt accessions (1): Q8NI37
UniProt curated annotations — full annotation on UniProt →
Function. Protein phosphatase that plays an essential role in mitochondrial metabolism and biogenesis. Positively regulates biosynthesis of the ubiquinone, coenzyme Q. Dephosphorylates the ubiquinone biosynthesis protein COQ7 which is likely to lead to its activation. Serves as a crucial sensor for mitophagy, though the underlying mechanism remains ambiguous. May dephosphorylate BNIP3 and NIX and thereby directly regulates mitophagy receptor function and stability. Alternatively, promotes SCF-FBXL4-dependent ubiquitination and degradation of BNIP3 and NIX independently of its catalytic activity to restrain mitophagy.
Subunit / interactions. Interacts with FBXL4, BNIP3 and NIX; these interactions are important for ubiquitination and degradation of BNIP3 and NIX.
Subcellular location. Mitochondrion matrix.
Tissue specificity. Expressed in keratinocytes (at protein level).
Activity regulation. Inhibited by sodium orthovanadate.
Cofactor. Binds 2 magnesium or manganese ions per subunit.
Induction. By hydrogen peroxide and nutrional stress (such as low glucose). Up-regulated during lymphocyte activation.
Similarity. Belongs to the PP2C family.
RefSeq proteins (1): NP_644812* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001932 | PPM-type_phosphatase-like_dom | Domain |
| IPR036457 | PPM-type-like_dom_sf | Homologous_superfamily |
| IPR039123 | PPTC7 | Family |
Pfam: PF07228
Catalyzed reactions (Rhea), 2 shown:
- O-phospho-L-seryl-[protein] + H2O = L-seryl-[protein] + phosphate (RHEA:20629)
- O-phospho-L-threonyl-[protein] + H2O = L-threonyl-[protein] + phosphate (RHEA:47004)
UniProt features (10 total): binding site 4, sequence conflict 3, transit peptide 1, chain 1, domain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8NI37-F1 | 88.84 | 0.82 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (4): 78; 78; 79; 223
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 216 (showing top):
GSE45365_NK_CELL_VS_CD8A_DC_MCMV_INFECTION_DN, MODULE_97, GOBP_REGULATION_OF_AUTOPHAGY, TGCGCANK_UNKNOWN, AREB6_03, MODULE_182, TGACCTY_ERR1_Q2, GOBP_KETONE_METABOLIC_PROCESS, GOBP_MACROAUTOPHAGY, COUP_01, GOBP_NEGATIVE_REGULATION_OF_AUTOPHAGY, GOBP_SMALL_MOLECULE_BIOSYNTHETIC_PROCESS, GOBP_REGULATION_OF_CATABOLIC_PROCESS, GOBP_REGULATION_OF_KETONE_METABOLIC_PROCESS, HEN1_01
GO Biological Process (4): regulation of ubiquinone biosynthetic process (GO:0010795), negative regulation of mitophagy (GO:1901525), positive regulation of ubiquinone biosynthetic process (GO:1904775), mitophagy (GO:0000423)
GO Molecular Function (6): protein serine/threonine phosphatase activity (GO:0004722), protein-macromolecule adaptor activity (GO:0030674), metal ion binding (GO:0046872), phosphoprotein phosphatase activity (GO:0004721), protein binding (GO:0005515), hydrolase activity (GO:0016787)
GO Cellular Component (3): mitochondrion (GO:0005739), mitochondrial outer membrane (GO:0005741), mitochondrial matrix (GO:0005759)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| ubiquinone biosynthetic process | 2 |
| regulation of ketone biosynthetic process | 1 |
| mitophagy | 1 |
| negative regulation of macroautophagy | 1 |
| regulation of mitophagy | 1 |
| negative regulation of autophagy of mitochondrion | 1 |
| positive regulation of biosynthetic process | 1 |
| regulation of ubiquinone biosynthetic process | 1 |
| positive regulation of small molecule metabolic process | 1 |
| autophagy of mitochondrion | 1 |
| macroautophagy | 1 |
| phosphoprotein phosphatase activity | 1 |
| protein binding | 1 |
| molecular adaptor activity | 1 |
| cation binding | 1 |
| phosphatase activity | 1 |
| catalytic activity, acting on a protein | 1 |
| binding | 1 |
| catalytic activity | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
| mitochondrial membrane | 1 |
| organelle outer membrane | 1 |
| mitochondrion | 1 |
| intracellular organelle lumen | 1 |
Protein interactions and networks
STRING
1640 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PPTC7 | PDP1 | Q9P0J1 | 894 |
| PPTC7 | PPM1A | P35813 | 807 |
| PPTC7 | PPM1K | Q8N3J5 | 616 |
| PPTC7 | COQ7 | Q99807 | 567 |
| PPTC7 | PPM1M | Q96MI6 | 555 |
| PPTC7 | PPM1L | Q5SGD2 | 541 |
| PPTC7 | PPM1H | Q9ULR3 | 532 |
| PPTC7 | PPM1J | Q5JR12 | 503 |
| PPTC7 | PPM1F | P49593 | 500 |
| PPTC7 | ZER1 | Q7Z7L7 | 476 |
| PPTC7 | PP2D1 | A8MPX8 | 475 |
| PPTC7 | FAM216A | Q8WUB2 | 466 |
| PPTC7 | CNOT12 | Q9C0C2 | 443 |
| PPTC7 | PDP2 | Q9P2J9 | 432 |
| PPTC7 | COQ9 | O75208 | 429 |
| PPTC7 | PPM1B | O75688 | 429 |
IntAct
62 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| BNIP3 | BNIP3L | psi-mi:“MI:0914”(association) | 0.970 |
| BNIP3 | PPTC7 | psi-mi:“MI:0915”(physical association) | 0.800 |
| TRMT61B | PPTC7 | psi-mi:“MI:0914”(association) | 0.710 |
| ASF1B | HAT1 | psi-mi:“MI:0914”(association) | 0.640 |
| ASF1A | HAT1 | psi-mi:“MI:0914”(association) | 0.640 |
| PPTC7 | PBXIP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| BCL6 | PPTC7 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PPTC7 | DMWD | psi-mi:“MI:0915”(physical association) | 0.560 |
| PPTC7 | NEFL | psi-mi:“MI:0915”(physical association) | 0.560 |
| PPTC7 | WFS1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PPTC7 | SPRED1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FAM174A | BLTP3B | psi-mi:“MI:0914”(association) | 0.530 |
| LPAR4 | POTEF | psi-mi:“MI:0914”(association) | 0.530 |
| TMEM9 | ESYT2 | psi-mi:“MI:0914”(association) | 0.530 |
| CD70 | METTL15 | psi-mi:“MI:0914”(association) | 0.530 |
| PPTC7 | UBB | psi-mi:“MI:0914”(association) | 0.530 |
| PPTC7 | ZDHHC17 | psi-mi:“MI:0915”(physical association) | 0.370 |
BioGRID (96): PPTC7 (Two-hybrid), PPTC7 (Affinity Capture-MS), BNIP3 (Affinity Capture-MS), BNIP3L (Affinity Capture-MS), TRMT61B (Affinity Capture-MS), TRMT2B (Affinity Capture-MS), MRPL22 (Affinity Capture-MS), MRPS18C (Affinity Capture-MS), SARS2 (Affinity Capture-MS), SPHKAP (Affinity Capture-MS), C1QBP (Affinity Capture-MS), RTN4IP1 (Affinity Capture-MS), TRMT2B (Affinity Capture-MS), PPTC7 (Affinity Capture-MS), PPTC7 (Affinity Capture-MS)
ESM2 similar proteins: B3MTI8, B3P5D3, B4G653, B4HZE7, B4JYN1, B4K616, B4M5T5, B4NBL6, B4PPK3, B4R089, F4HYJ7, F4IDQ6, O14156, O14189, O15056, O55207, O82637, P38797, P39966, P49594, Q09189, Q29AP0, Q2QMG2, Q2R637, Q2RBJ6, Q5BJS0, Q5JJY4, Q5JKN1, Q5U3N5, Q5ZI74, Q6GR25, Q6H7J3, Q6H7J4, Q6NKS1, Q6NVE9, Q6Z8B9, Q75B12, Q7L2E3, Q7M753, Q7SHQ1
Diamond homologs: B3MTI8, B3P5D3, B4G653, B4HZE7, B4JYN1, B4K616, B4M5T5, B4NBL6, B4PPK3, B4R089, O64730, P38797, Q09189, Q10QL5, Q29AP0, Q339D2, Q5U3N5, Q6GR25, Q6H7J3, Q6H7J4, Q6J2K6, Q6NVE9, Q8NI37, Q93V88, Q942P9, Q9LVQ8, Q9SUK9, Q9VAH4
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 54 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.
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| nucleosome assembly | 5 | 14.6× | 8e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
29 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 2 |
| Uncertain significance | 19 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (3)
| Variant ID | HGVS | Classification |
|---|---|---|
| 980454 | GRCh37/hg19 12q23.3-24.12(chr12:106498814-112252906)x1 | Pathogenic |
| 4813198 | NM_139283.2(PPTC7):c.472G>A (p.Asp158Asn) | Likely pathogenic |
| 4813199 | NM_139283.2(PPTC7):c.*57dup | Likely pathogenic |
SpliceAI
1380 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 12:110538271:ATTC:A | acceptor_loss | 1.0000 |
| 12:110538272:TT:T | acceptor_gain | 1.0000 |
| 12:110538273:TCT:T | acceptor_loss | 1.0000 |
| 12:110538274:C:CC | acceptor_gain | 1.0000 |
| 12:110538274:CTAAG:C | acceptor_loss | 1.0000 |
| 12:110539817:ATTAC:A | donor_loss | 1.0000 |
| 12:110539818:TTA:T | donor_loss | 1.0000 |
| 12:110539820:A:C | donor_loss | 1.0000 |
| 12:110539821:C:CG | donor_loss | 1.0000 |
| 12:110539823:TTTA:T | donor_gain | 1.0000 |
| 12:110539827:A:C | donor_gain | 1.0000 |
| 12:110539941:CCGGA:C | acceptor_gain | 1.0000 |
| 12:110539942:CGGA:C | acceptor_gain | 1.0000 |
| 12:110539942:CGGAC:C | acceptor_gain | 1.0000 |
| 12:110539943:GGA:G | acceptor_gain | 1.0000 |
| 12:110539943:GGACT:G | acceptor_loss | 1.0000 |
| 12:110539944:GA:G | acceptor_gain | 1.0000 |
| 12:110539945:AC:A | acceptor_loss | 1.0000 |
| 12:110539946:C:CC | acceptor_gain | 1.0000 |
| 12:110539948:G:C | acceptor_gain | 1.0000 |
| 12:110539952:C:CT | acceptor_gain | 1.0000 |
| 12:110539953:A:T | acceptor_gain | 1.0000 |
| 12:110539958:C:CT | acceptor_gain | 1.0000 |
| 12:110539959:A:T | acceptor_gain | 1.0000 |
| 12:110545876:TTA:T | donor_loss | 1.0000 |
| 12:110545877:TACCT:T | donor_loss | 1.0000 |
| 12:110545878:AC:A | donor_loss | 1.0000 |
| 12:110546076:TACCT:T | acceptor_loss | 1.0000 |
| 12:110546077:ACCTA:A | acceptor_loss | 1.0000 |
| 12:110546079:CTAGA:C | acceptor_loss | 1.0000 |
AlphaMissense
1966 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 12:110537063:A:G | S297P | 1.000 |
| 12:110537080:T:A | D291V | 1.000 |
| 12:110537083:T:A | D290V | 1.000 |
| 12:110537084:C:G | D290H | 1.000 |
| 12:110537088:C:A | K288N | 1.000 |
| 12:110537088:C:G | K288N | 1.000 |
| 12:110537092:C:T | G287E | 1.000 |
| 12:110538181:A:C | F273L | 1.000 |
| 12:110538181:A:T | F273L | 1.000 |
| 12:110538182:A:C | F273C | 1.000 |
| 12:110538183:A:G | F273L | 1.000 |
| 12:110539864:G:C | N228K | 1.000 |
| 12:110539864:G:T | N228K | 1.000 |
| 12:110539868:T:A | D227V | 1.000 |
| 12:110539868:T:G | D227A | 1.000 |
| 12:110539877:C:T | G224E | 1.000 |
| 12:110539878:C:G | G224R | 1.000 |
| 12:110539878:C:T | G224R | 1.000 |
| 12:110539879:A:C | D223E | 1.000 |
| 12:110539879:A:T | D223E | 1.000 |
| 12:110539880:T:A | D223V | 1.000 |
| 12:110539880:T:C | D223G | 1.000 |
| 12:110539880:T:G | D223A | 1.000 |
| 12:110539881:C:G | D223H | 1.000 |
| 12:110539883:G:A | T222I | 1.000 |
| 12:110539886:G:T | A221E | 1.000 |
| 12:110539895:A:T | I218N | 1.000 |
| 12:110539901:T:A | D216V | 1.000 |
| 12:110539901:T:C | D216G | 1.000 |
| 12:110539901:T:G | D216A | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000298667 (12:110564243 T>C), RS1000307267 (12:110565010 G>A), RS1000341259 (12:110541312 A>G), RS1000380052 (12:110582273 T>C), RS1000440394 (12:110548138 T>C), RS1000472340 (12:110562899 A>G), RS1000494151 (12:110577025 G>A), RS1000567735 (12:110562396 A>G), RS1000581283 (12:110581157 C>T), RS1000626338 (12:110563894 G>A), RS1000646299 (12:110540398 T>G), RS1000727191 (12:110541604 G>A), RS1000734592 (12:110556633 G>A), RS1000771668 (12:110546651 T>C), RS1000882545 (12:110581945 A>G)
Disease associations
OMIM: gene MIM:609668 | disease phenotypes:
GenCC curated gene-disease
Mondo (1): neurodevelopmental disorder (MONDO:0700092)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D065886 | Neurodevelopmental Disorders | F03.625 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
37 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression, affects cotreatment, increases abundance, increases expression | 2 |
| Arsenic | affects expression, affects methylation, affects cotreatment, increases abundance, increases expression | 2 |
| Estradiol | increases expression | 2 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases expression | 2 |
| Cadmium Chloride | increases abundance, increases expression, decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| GSK-J4 | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| pirinixic acid | increases expression, affects binding, increases activity | 1 |
| arsenite | affects binding, decreases reaction | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| zinc chromate | increases abundance, increases expression | 1 |
| manganese chloride | affects cotreatment, increases abundance, increases expression | 1 |
| hydroquinone | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| chromium hexavalent ion | increases abundance, increases expression | 1 |
| abrine | increases expression | 1 |
| jinfukang | decreases expression | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | decreases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Air Pollutants | increases abundance, affects expression | 1 |
| Benzo(a)pyrene | decreases methylation | 1 |
| Cadmium | increases abundance, increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Chlorpyrifos | decreases expression, decreases response to substance | 1 |
| Formaldehyde | decreases expression | 1 |
| Manganese | increases expression, affects cotreatment, increases abundance | 1 |
| Methyl Methanesulfonate | decreases expression | 1 |
| Ozone | affects expression, increases abundance | 1 |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_TG34 | HAP1 PPTC7 (-) | Cancer cell line | Male |
Clinical trials (associated diseases)
202 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT04586348 | PHASE4 | UNKNOWN | Prenatal Iodine Supplementation and Early Childhood Neurodevelopment |
| NCT04873115 | PHASE4 | UNKNOWN | Double-blind, Placebo-controlled, Randomized Clinical Trial Comparing the Efficacy and Safety of Sialanar Plus orAl rehabiLitation Against Placebo Plus Oral Rehabilitation for chIldren and Adolescents With seVere Sialorrhoea and Neurodisabilties, |
| NCT02559102 | PHASE3 | COMPLETED | Dexmedetomidine Sedation Versus General Anaesthesia for Inguinal Hernia Surgery in Infants |
| NCT02757079 | PHASE3 | COMPLETED | Study of the Efficacy and Safety of NPC-15 for Sleep Disorders of Children With Neurodevelopmental Disorders |
| NCT06915480 | PHASE3 | RECRUITING | Reducing Missed Appointments |
| NCT07377032 | PHASE3 | RECRUITING | TAP-GRIN: Interventional Study on Patients With GRIN-related Neurodevelopmental Disorders |
| NCT02909959 | PHASE2 | COMPLETED | Sulforaphane for the Treatment of Young Men With Autism Spectrum Disorder |
| NCT06081348 | PHASE2 | RECRUITING | Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders |
| NCT06352372 | PHASE2 | COMPLETED | Safety and Efficacy of tPBM for Epileptiform Activity in Autism |
| NCT00503191 | PHASE1 | COMPLETED | NeuroModulation Technique Treatment of Autism |
| NCT04475848 | PHASE1 | COMPLETED | A Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Food Effect of RO6953958 in Healthy Participants |
| NCT06300398 | PHASE1 | COMPLETED | IAMA-6 Oral Dose Study in Healthy Adults |
| NCT01783041 | PHASE2/PHASE3 | COMPLETED | Effect of Early L-Carnitine Supplementation on Neurodevelopmental Outcomes in Very Preterm Infants |
| NCT05767385 | PHASE2/PHASE3 | RECRUITING | Fetal Cerebrovascular Autoregulation in Congenital Heart Disease and Association With Neonatal Neurobehavior |
| NCT05675098 | EARLY_PHASE1 | NOT_YET_RECRUITING | Central Nervous System Stimulants and Physical Function in Children With Cerebral Palsy |
| NCT00783783 | Not specified | COMPLETED | CYP2D6 Pharmacogenetics in Risperidone-Treated Children |
| NCT01778504 | Not specified | RECRUITING | Studying Childhood-onset Behavioral, Psychiatric, and Developmental Disorders |
| NCT01850784 | Not specified | UNKNOWN | High Energy Formula Feeding in Infants With Congenital Heart Disease |
| NCT01922791 | Not specified | COMPLETED | Nutrition and Pregnancy Intervention Study |
| NCT01942525 | Not specified | UNKNOWN | Influence of Intrauterine Growth Restriction on Amplitude-integrated EEG in Preterm Infants |
| NCT02003170 | Not specified | COMPLETED | Etiology and Early Diagnosis of Neurodevelopmental Disorders |
| NCT02118649 | Not specified | ACTIVE_NOT_RECRUITING | Enhancing Behavior and Brain Response to Visual Targets Using a Computer Game |
| NCT02557191 | Not specified | TERMINATED | Biomarkers, Neurodevelopment and Preterm Infants |
| NCT02690675 | Not specified | COMPLETED | Iron Supplement Effect on Child Development |
| NCT02694003 | Not specified | COMPLETED | Better Nights, Better Days for Children With Neurodevelopment Disorders |
| NCT02792894 | Not specified | COMPLETED | Family Networks (FaNs) for Children With Developmental Disorders and Delays |
| NCT02871674 | Not specified | UNKNOWN | Good Night Project: Behavioural Sleep Interventions for Children With ADHD: A Randomised Controlled Trial |
| NCT02887157 | Not specified | COMPLETED | Analyzing Retinal Microanatomy in ROP |
| NCT02898298 | Not specified | COMPLETED | Positive Emotion Regulation Training in Children, Adolescents and Young Adults With and Without Developmental Disorder |
| NCT02912780 | Not specified | UNKNOWN | Introduction of Microsystems in a Level 3 Neonatal Intensive Care Unit |
| NCT03023293 | Not specified | COMPLETED | n-3 PUFAs, Irisin and Maternal Glucose Metabolism From Pregnancy to Postpartum |
| NCT03023644 | Not specified | COMPLETED | Improving Neurodevelopmental Outcomes in Children With Congenital Heart Disease: An Intervention Study |
| NCT03032991 | Not specified | UNKNOWN | Early Biomarkers of Neurodevelopment in Offspring of Diabetic Mothers |
| NCT03088189 | Not specified | TERMINATED | Effect of Parental Peri-conceptional Vitamin B12 Supplementation on Infant Neurocognitive Development in Offspring |
| NCT03096028 | Not specified | COMPLETED | Developmental Origins of Mental Health Disorders |
| NCT03148782 | Not specified | COMPLETED | Brain Plasticity Underlying Acquisition of New Organizational Skills in Children-R61 Phase |
| NCT03172104 | Not specified | COMPLETED | Neurobehavioural Development of Infants Born <30 Weeks Gestational Age Between Birth and Five Years of Age |
| NCT03222375 | Not specified | RECRUITING | SQUED™ Series 28.1 Home-use and Treatment of Autowave Reverberator of Autism |
| NCT03229928 | Not specified | COMPLETED | Clinical Testing of a Real-Time Behavior Measurement Tool: Measuring Outcomes for CHAnge |
| NCT03232489 | Not specified | UNKNOWN | Study for the Evaluation of the Feasibility of Applying Advanced MRI Scanning in Pediatric Clinical Practice |
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.