TMEM214
gene geneOn this page
Also known as FLJ20254
Summary
TMEM214 (transmembrane protein 214, HGNC:25983) is a protein-coding gene on chromosome 2p23.3, encoding Transmembrane protein 214 (Q6NUQ4). Critical mediator, in cooperation with CASP4, of endoplasmic reticulum-stress induced apoptosis.
Predicted to be involved in apoptotic process. Located in several cellular components, including Golgi apparatus; cytoplasmic microtubule; and endoplasmic reticulum.
Source: NCBI Gene 54867 — RefSeq curated summary.
At a glance
- GWAS associations: 7
- Clinical variants (ClinVar): 111 total
- Phenotypes (HPO): 1
- MANE Select transcript:
NM_017727
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:25983 |
| Approved symbol | TMEM214 |
| Name | transmembrane protein 214 |
| Location | 2p23.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ20254 |
| Ensembl gene | ENSG00000119777 |
| Ensembl biotype | protein_coding |
| OMIM | 615301 |
| Entrez | 54867 |
Gene structure
Transcript identifiers
Ensembl transcripts: 22 — 13 protein_coding, 6 retained_intron, 3 nonsense_mediated_decay
ENST00000238788, ENST00000321326, ENST00000404032, ENST00000425720, ENST00000434544, ENST00000435172, ENST00000444135, ENST00000460665, ENST00000460904, ENST00000469445, ENST00000475258, ENST00000478980, ENST00000495312, ENST00000901050, ENST00000901051, ENST00000901052, ENST00000901053, ENST00000901054, ENST00000901055, ENST00000934286, ENST00000934287, ENST00000934288
RefSeq mRNA: 2 — MANE Select: NM_017727
NM_001083590, NM_017727
CCDS: CCDS42664, CCDS46242
Canonical transcript exons
ENST00000238788 — 17 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001262189 | 27037561 | 27037702 |
| ENSE00001346604 | 27035594 | 27035728 |
| ENSE00001606684 | 27035135 | 27035285 |
| ENSE00001664738 | 27035970 | 27036052 |
| ENSE00001867488 | 27040711 | 27041694 |
| ENSE00003462566 | 27037077 | 27037178 |
| ENSE00003473517 | 27040345 | 27040496 |
| ENSE00003484185 | 27036705 | 27036786 |
| ENSE00003488183 | 27039047 | 27039164 |
| ENSE00003501274 | 27039741 | 27039837 |
| ENSE00003524095 | 27040030 | 27040198 |
| ENSE00003567313 | 27038484 | 27038532 |
| ENSE00003580027 | 27038702 | 27038815 |
| ENSE00003617808 | 27038146 | 27038237 |
| ENSE00003635885 | 27036487 | 27036592 |
| ENSE00003687812 | 27034067 | 27034266 |
| ENSE00003845952 | 27032965 | 27033166 |
Expression profiles
Bgee: expression breadth ubiquitous, 291 present calls, max score 98.25.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 32.2801 / max 223.7794, expressed in 1817 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 19305 | 31.4583 | 1817 |
| 19306 | 0.8217 | 529 |
Top tissues by expression
293 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| adenohypophysis | UBERON:0002196 | 98.25 | gold quality |
| pituitary gland | UBERON:0000007 | 98.09 | gold quality |
| body of pancreas | UBERON:0001150 | 97.99 | gold quality |
| stromal cell of endometrium | CL:0002255 | 97.74 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 97.33 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 97.08 | gold quality |
| endocervix | UBERON:0000458 | 97.06 | gold quality |
| ascending aorta | UBERON:0001496 | 96.65 | gold quality |
| thoracic aorta | UBERON:0001515 | 96.61 | gold quality |
| body of uterus | UBERON:0009853 | 96.52 | gold quality |
| thyroid gland | UBERON:0002046 | 96.51 | gold quality |
| minor salivary gland | UBERON:0001830 | 96.48 | gold quality |
| pancreas | UBERON:0001264 | 96.45 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 96.29 | gold quality |
| right ovary | UBERON:0002118 | 96.28 | gold quality |
| body of stomach | UBERON:0001161 | 96.23 | gold quality |
| left ovary | UBERON:0002119 | 96.17 | gold quality |
| left coronary artery | UBERON:0001626 | 96.16 | gold quality |
| cardia of stomach | UBERON:0001162 | 96.14 | gold quality |
| coronary artery | UBERON:0001621 | 96.12 | gold quality |
| metanephros cortex | UBERON:0010533 | 96.09 | gold quality |
| right coronary artery | UBERON:0001625 | 96.06 | gold quality |
| trachea | UBERON:0003126 | 96.02 | gold quality |
| left uterine tube | UBERON:0001303 | 95.96 | gold quality |
| omental fat pad | UBERON:0010414 | 95.85 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 95.84 | gold quality |
| right lobe of liver | UBERON:0001114 | 95.83 | gold quality |
| peritoneum | UBERON:0002358 | 95.83 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 95.76 | gold quality |
| aorta | UBERON:0000947 | 95.75 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 13.94 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
59 targeting TMEM214, 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-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-3689D | 100.00 | 66.14 | 1181 |
| HSA-MIR-6851-5P | 100.00 | 65.63 | 1294 |
| HSA-MIR-6740-5P | 100.00 | 65.64 | 932 |
| HSA-MIR-6759-5P | 99.99 | 66.54 | 785 |
| HSA-MIR-4534 | 99.99 | 66.58 | 1907 |
| HSA-MIR-8082 | 99.95 | 67.27 | 1170 |
| HSA-MIR-5680 | 99.91 | 69.83 | 3421 |
| HSA-MIR-4779 | 99.86 | 66.50 | 1583 |
| HSA-MIR-4306 | 99.72 | 70.50 | 3630 |
| HSA-MIR-6762-3P | 99.66 | 66.94 | 1188 |
| HSA-MIR-3202 | 99.66 | 67.70 | 2737 |
| HSA-MIR-6715B-5P | 99.64 | 69.63 | 1420 |
| HSA-MIR-9851-3P | 99.63 | 69.68 | 1110 |
| HSA-MIR-4516 | 99.61 | 67.78 | 3390 |
| HSA-MIR-1249-5P | 99.61 | 66.55 | 2049 |
| HSA-MIR-6797-5P | 99.61 | 66.55 | 2084 |
| HSA-MIR-4269 | 99.55 | 69.89 | 1373 |
| HSA-MIR-3616-5P | 99.55 | 67.02 | 989 |
| HSA-MIR-573 | 99.55 | 67.44 | 955 |
| HSA-MIR-1252-3P | 99.55 | 67.71 | 2862 |
| HSA-MIR-3612 | 99.45 | 66.02 | 1333 |
| HSA-MIR-650 | 99.45 | 65.77 | 1309 |
| HSA-MIR-6165 | 99.44 | 67.12 | 1389 |
| HSA-MIR-5683 | 99.36 | 68.59 | 2083 |
| HSA-MIR-185-5P | 99.35 | 68.60 | 2497 |
| HSA-MIR-4644 | 99.35 | 69.12 | 2514 |
| HSA-MIR-593-5P | 99.34 | 69.50 | 965 |
| HSA-MIR-5693 | 99.24 | 66.67 | 1106 |
| HSA-MIR-4426 | 99.17 | 66.74 | 1949 |
Literature-anchored findings (GeneRIF, showing 1)
- TMEM214 is essential for endoplasmic reticulum (ER) stress-induced apoptosis by acting as an anchor for recruitment of procaspase 4 to the ER and its subsequent activation. (PMID:23661706)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | tmem214 | ENSDARG00000016968 |
| mus_musculus | Tmem214 | ENSMUSG00000038828 |
| rattus_norvegicus | Tmem214 | ENSRNOG00000008812 |
| drosophila_melanogaster | Tmem214 | FBGN0053129 |
Protein
Protein identifiers
Transmembrane protein 214 — Q6NUQ4 (reviewed: Q6NUQ4)
All UniProt accessions (5): Q6NUQ4, H7BZI0, H7C008, H7C085, H7C0H8
UniProt curated annotations — full annotation on UniProt →
Function. Critical mediator, in cooperation with CASP4, of endoplasmic reticulum-stress induced apoptosis. Required or the activation of CASP4 following endoplasmic reticulum stress.
Subunit / interactions. Constitutively interacts with CASP4; required for the localization of procaspase 4 to the ER.
Subcellular location. Endoplasmic reticulum membrane.
Similarity. Belongs to the TMEM214 family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q6NUQ4-1 | 1 | yes |
| Q6NUQ4-2 | 2 |
RefSeq proteins (2): NP_001077059, NP_060197* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR019308 | TMEM214 | Family |
Pfam: PF10151
UniProt features (17 total): sequence conflict 5, transmembrane region 2, region of interest 2, glycosylation site 2, initiator methionine 1, chain 1, splice variant 1, sequence variant 1, compositionally biased region 1, modified residue 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q6NUQ4-F1 | 78.62 | 0.49 |
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 (1): 2
Glycosylation sites (2): 269, 307
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 103 (showing top):
RRAGTTGT_UNKNOWN, ONKEN_UVEAL_MELANOMA_UP, BILD_E2F3_ONCOGENIC_SIGNATURE, GOCC_NUCLEAR_OUTER_MEMBRANE_ENDOPLASMIC_RETICULUM_MEMBRANE_NETWORK, GOCC_CYTOPLASMIC_MICROTUBULE, GOCC_ORGANELLE_SUBCOMPARTMENT, ONDER_CDH1_TARGETS_1_UP, YOSHIMURA_MAPK8_TARGETS_DN, FEVR_CTNNB1_TARGETS_UP, GOCC_SUPRAMOLECULAR_COMPLEX, GOCC_POLYMERIC_CYTOSKELETAL_FIBER, GCNP_SHH_UP_LATE.V1_DN, GOCC_SUPRAMOLECULAR_POLYMER, KMT2D_TARGET_GENES, SNRNP70_TARGET_GENES
GO Biological Process (1): apoptotic process (GO:0006915)
GO Molecular Function (0):
GO Cellular Component (6): endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), Golgi apparatus (GO:0005794), cytosol (GO:0005829), cytoplasmic microtubule (GO:0005881), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cytoplasm | 4 |
| endomembrane system | 2 |
| intracellular membrane-bounded organelle | 2 |
| cellular anatomical structure | 2 |
| programmed cell death | 1 |
| apoptotic signaling pathway | 1 |
| execution phase of apoptosis | 1 |
| organelle membrane | 1 |
| nuclear outer membrane-endoplasmic reticulum membrane network | 1 |
| endoplasmic reticulum subcompartment | 1 |
| microtubule | 1 |
Protein interactions and networks
STRING
1050 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TMEM214 | EXD2 | Q9NVH0 | 917 |
| TMEM214 | CNOT2 | Q9NZN8 | 902 |
| TMEM214 | SEC61B | P38390 | 853 |
| TMEM214 | SEC61G | P38384 | 684 |
| TMEM214 | NPR2 | P20594 | 670 |
| TMEM214 | SEC62 | Q99442 | 670 |
| TMEM214 | SEC63 | Q9UGP8 | 650 |
| TMEM214 | TAFAZZIN | Q16635 | 649 |
| TMEM214 | TMEM38A | Q9H6F2 | 631 |
| TMEM214 | WFS1 | O76024 | 616 |
| TMEM214 | SEC61A1 | P38378 | 609 |
| TMEM214 | KLHL31 | Q9H511 | 600 |
| TMEM214 | CD22 | P20273 | 591 |
| TMEM214 | SMIM17 | P0DL12 | 576 |
| TMEM214 | NPPC | P23582 | 548 |
IntAct
180 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| CARNMT1 | NUP42 | psi-mi:“MI:0914”(association) | 0.640 |
| ABCD4 | ABCD4 | psi-mi:“MI:0914”(association) | 0.640 |
| LYPD3 | SCAMP1 | psi-mi:“MI:0914”(association) | 0.640 |
| FAM234B | ABCD4 | psi-mi:“MI:0914”(association) | 0.620 |
| KPNB1 | POM121C | psi-mi:“MI:0914”(association) | 0.530 |
| DLK1 | TCAF2 | psi-mi:“MI:0914”(association) | 0.530 |
| SEMA7A | SGPL1 | psi-mi:“MI:0914”(association) | 0.530 |
| KIR3DL2 | METTL15 | psi-mi:“MI:0914”(association) | 0.530 |
| CCDC107 | PLD2 | psi-mi:“MI:0914”(association) | 0.530 |
| LYPD6 | PLXNB2 | psi-mi:“MI:0914”(association) | 0.530 |
| ZACN | GPAA1 | psi-mi:“MI:0914”(association) | 0.530 |
| HMOX2 | PRAF2 | psi-mi:“MI:0914”(association) | 0.530 |
| ASGR2 | MT-CO1 | psi-mi:“MI:0914”(association) | 0.530 |
| STS | GJA1 | psi-mi:“MI:0914”(association) | 0.530 |
| DPEP1 | ILVBL | psi-mi:“MI:0914”(association) | 0.530 |
| CSGALNACT2 | GOLIM4 | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (241): TMEM214 (Affinity Capture-MS), TMEM214 (Affinity Capture-MS), TMEM214 (Affinity Capture-MS), TMEM214 (Affinity Capture-MS), TMEM214 (Affinity Capture-MS), TMEM214 (Affinity Capture-MS), TMEM214 (Affinity Capture-MS), TMEM214 (Affinity Capture-MS), TMEM214 (Affinity Capture-MS), TMEM214 (Affinity Capture-MS), TMEM214 (Affinity Capture-MS), TMEM214 (Affinity Capture-MS), TMEM214 (Affinity Capture-MS), TMEM214 (Proximity Label-MS), TMEM214 (Proximity Label-MS)
ESM2 similar proteins: A0JMW6, A1A535, A1A5P5, A1L1L2, A1L2I9, A2BID5, A4FV45, A7Z033, F1QN74, P56695, Q08CY4, Q0KK59, Q14D04, Q2PW47, Q3UHQ6, Q568Z0, Q5FWU8, Q5JWR5, Q5PQS3, Q5SPP5, Q5U249, Q642P2, Q68F70, Q68Y81, Q6DRL5, Q6GPP1, Q6GQ26, Q6IV68, Q6NUQ4, Q6PI53, Q7SYB2, Q7Z3E5, Q7ZYV9, Q80V62, Q80X82, Q8BL99, Q8BM55, Q8CIM8, Q8JGR7, Q8K1H7
Diamond homologs: A0JMW6, A1L1L2, A1L2I9, A4FV45, Q6NUQ4, Q8BM55
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 204 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 |
|---|---|---|---|
| RIPK1-mediated regulated necrosis | 5 | 16.0× | 2e-03 |
| Transport of Ribonucleoproteins into the Host Nucleus | 6 | 15.0× | 9e-04 |
| Nuclear import of Rev protein | 6 | 14.1× | 9e-04 |
| Vpr-mediated nuclear import of PICs | 6 | 14.1× | 9e-04 |
| IPs transport between nucleus and cytosol | 5 | 13.3× | 3e-03 |
| IP3 and IP4 transport between cytosol and nucleus | 5 | 13.3× | 3e-03 |
| IP6 and IP7 transport between cytosol and nucleus | 5 | 13.3× | 3e-03 |
| Regulation of Glucokinase by Glucokinase Regulatory Protein | 5 | 12.5× | 3e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
111 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 84 |
| Likely benign | 3 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2713 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:27033162:GACCC:G | donor_gain | 1.0000 |
| 2:27033163:ACCC:A | donor_gain | 1.0000 |
| 2:27033164:CCC:C | donor_gain | 1.0000 |
| 2:27033165:CC:C | donor_gain | 1.0000 |
| 2:27033166:CGTG:C | donor_loss | 1.0000 |
| 2:27033167:G:GG | donor_gain | 1.0000 |
| 2:27033167:GTGA:G | donor_loss | 1.0000 |
| 2:27033168:TGAG:T | donor_loss | 1.0000 |
| 2:27034252:G:GT | donor_gain | 1.0000 |
| 2:27034262:AAGCT:A | donor_gain | 1.0000 |
| 2:27034263:AGCT:A | donor_gain | 1.0000 |
| 2:27034264:GCT:G | donor_gain | 1.0000 |
| 2:27034264:GCTG:G | donor_gain | 1.0000 |
| 2:27034264:GCTGT:G | donor_loss | 1.0000 |
| 2:27034265:CTG:C | donor_loss | 1.0000 |
| 2:27034266:TG:T | donor_loss | 1.0000 |
| 2:27034267:G:GG | donor_gain | 1.0000 |
| 2:27034268:TGAG:T | donor_loss | 1.0000 |
| 2:27035283:ATGG:A | donor_loss | 1.0000 |
| 2:27035285:GGT:G | donor_loss | 1.0000 |
| 2:27035286:G:GC | donor_loss | 1.0000 |
| 2:27035286:G:GG | donor_gain | 1.0000 |
| 2:27035287:T:G | donor_loss | 1.0000 |
| 2:27035969:GGGGA:G | acceptor_gain | 1.0000 |
| 2:27036473:ACC:A | acceptor_gain | 1.0000 |
| 2:27036475:C:A | acceptor_gain | 1.0000 |
| 2:27036485:A:AG | acceptor_gain | 1.0000 |
| 2:27036486:G:GG | acceptor_gain | 1.0000 |
| 2:27036703:A:AG | acceptor_gain | 1.0000 |
| 2:27036703:AGTGT:A | acceptor_gain | 1.0000 |
AlphaMissense
4456 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:27036544:T:A | W260R | 0.997 |
| 2:27036544:T:C | W260R | 0.997 |
| 2:27038200:T:A | W403R | 0.997 |
| 2:27038200:T:C | W403R | 0.997 |
| 2:27035229:T:C | L149P | 0.996 |
| 2:27035217:T:C | L145P | 0.995 |
| 2:27035985:G:A | G218D | 0.995 |
| 2:27036583:G:A | G273R | 0.995 |
| 2:27036583:G:C | G273R | 0.995 |
| 2:27036707:T:A | W277R | 0.995 |
| 2:27036707:T:C | W277R | 0.995 |
| 2:27033048:G:C | W11C | 0.993 |
| 2:27033048:G:T | W11C | 0.993 |
| 2:27036587:T:C | L274P | 0.993 |
| 2:27036759:C:A | A294D | 0.993 |
| 2:27037659:T:C | L370P | 0.993 |
| 2:27037666:A:C | R372S | 0.993 |
| 2:27037666:A:T | R372S | 0.993 |
| 2:27035151:T:C | L123P | 0.992 |
| 2:27035984:G:C | G218R | 0.992 |
| 2:27036546:G:C | W260C | 0.992 |
| 2:27036546:G:T | W260C | 0.992 |
| 2:27037596:T:C | L349P | 0.992 |
| 2:27038188:A:C | S399R | 0.992 |
| 2:27038190:T:A | S399R | 0.992 |
| 2:27038190:T:G | S399R | 0.992 |
| 2:27033046:T:A | W11R | 0.991 |
| 2:27033046:T:C | W11R | 0.991 |
| 2:27035600:C:A | P170H | 0.991 |
| 2:27035991:G:C | R220P | 0.991 |
dbSNP variants (sampled 300 via entrez): RS1000071269 (2:27038304 C>A,G,T), RS1000124712 (2:27038650 G>C), RS1000723320 (2:27032943 C>A,G,T), RS1000901104 (2:27031798 T>A), RS1001126094 (2:27033495 T>TGA), RS1001269739 (2:27032157 C>A,T), RS1001741689 (2:27036828 C>T), RS1001966092 (2:27042116 A>C,G), RS1002062292 (2:27035315 A>G), RS1002138281 (2:27032132 C>A,T), RS1002190768 (2:27032597 G>A), RS1003076759 (2:27037469 C>T), RS1003602953 (2:27040689 A>C), RS1003734966 (2:27033538 C>A), RS1004402098 (2:27042140 G>T)
Disease associations
OMIM: gene MIM:615301 | disease phenotypes: MIM:209850
GenCC curated gene-disease
Mondo (1): autism (MONDO:0005260)
Orphanet (0):
HPO phenotypes
1 total (1 of 1 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000717 | Autism |
GWAS associations
7 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST010697_14 | Cortical surface area (min-P) | 2.000000e-09 |
| GCST010698_75 | Subcortical volume (min-P) | 2.000000e-13 |
| GCST010699_41 | Brain morphology (min-P) | 2.000000e-08 |
| GCST010700_38 | Cortical thickness (MOSTest) | 3.000000e-08 |
| GCST010701_56 | Cortical surface area (MOSTest) | 4.000000e-16 |
| GCST010702_20 | Subcortical volume (MOSTest) | 2.000000e-64 |
| GCST010703_76 | Brain morphology (MOSTest) | 1.000000e-16 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004346 | neuroimaging measurement |
| EFO:0004840 | cortical thickness |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D001321 | Autistic Disorder | F03.625.164.113.500 |
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 |
|---|---|---|
| Air Pollutants | affects cotreatment, increases abundance, increases oxidation, affects expression, increases expression | 4 |
| Ozone | affects expression, affects cotreatment, increases oxidation, increases abundance | 3 |
| Cyclosporine | increases expression | 3 |
| sodium arsenite | affects cotreatment, decreases expression, increases abundance, increases expression | 2 |
| methacrylaldehyde | affects cotreatment, increases oxidation, increases abundance | 2 |
| Acrolein | affects cotreatment, increases oxidation, increases abundance | 2 |
| Arsenic | affects cotreatment, decreases expression, increases abundance, affects methylation | 2 |
| Cadmium | decreases reaction, increases abundance, increases palmitoylation, decreases expression | 2 |
| Smoke | increases expression, decreases expression, increases abundance | 2 |
| Cadmium Chloride | increases abundance, increases palmitoylation, decreases expression, decreases reaction | 2 |
| aristolochic acid I | decreases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| TAK-243 | decreases sumoylation | 1 |
| dicrotophos | increases expression | 1 |
| alpha-pinene | affects cotreatment, increases oxidation, increases abundance | 1 |
| pirinixic acid | increases activity, increases expression, affects binding | 1 |
| bisphenol A | affects cotreatment, increases methylation | 1 |
| beta-lapachone | increases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| 2-bromopalmitate | decreases reaction, increases abundance, increases palmitoylation | 1 |
| perfluorooctanoic acid | decreases expression | 1 |
| manganese chloride | increases abundance, affects cotreatment, decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Caffeine | increases phosphorylation | 1 |
| Dietary Carbohydrates | decreases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Manganese | affects cotreatment, decreases expression, increases abundance | 1 |
| Ribonucleotides | affects binding | 1 |
Cellosaurus cell lines
1 cell lines: 1 spontaneously immortalized cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_D8E0 | Ubigene ARPE-19 TMEM214 KO | Spontaneously immortalized cell line | Male |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00211796 | PHASE4 | COMPLETED | Divalproex Sodium ER in Adult Autism |
| NCT00391261 | PHASE4 | COMPLETED | An Open-label Trial of Metformin for Weight Control of Pediatric Patients on Antipsychotic Medications. |
| NCT00409747 | PHASE4 | COMPLETED | Minocycline to Treat Childhood Regressive Autism |
| NCT00576732 | PHASE4 | COMPLETED | A Study of the Effectiveness and Safety of Two Doses of Risperidone in the Treatment of Children and Adolescents With Autistic Disorder |
| NCT00844753 | PHASE4 | COMPLETED | Atomoxetine, Placebo and Parent Management Training in Autism |
| NCT01028820 | PHASE4 | COMPLETED | FMRI Brain Activation of Aripiprazole Treatment in Autism Spectrum Disorders |
| NCT01098383 | PHASE4 | UNKNOWN | Treatment With Acetyl-Choline Esterase Inhibitors in Children With Autism Spectrum Disorders |
| NCT01333865 | PHASE4 | COMPLETED | A Study of Memantine Hydrochloride (Namenda®) for Cognitive and Behavioral Impairment in Adults With Autism Spectrum Disorders |
| NCT01337700 | PHASE4 | COMPLETED | Milnacipran in Autism and the Functional Locus Coeruleus and Noradrenergic Model of Autism |
| NCT01695200 | PHASE4 | COMPLETED | Omega-3 Fatty Acids in Autism Spectrum Disorders |
| NCT02069977 | PHASE4 | UNKNOWN | Study to Evaluate the Efficacy and Safety of Aripiprazole |
| NCT02096952 | PHASE4 | COMPLETED | Methylphenidate ER Liquid Formulation in Adults With ASD and ADHD |
| NCT02199925 | PHASE4 | UNKNOWN | An Open-Label Study to Evaluate the Efficacy of High-Dose Gammaplex in Children on the Autism Spectrum |
| NCT02235467 | PHASE4 | COMPLETED | Multisite Study: Parental Training Using Video Modelling to Develop Social Skills in Children With Autism |
| NCT02255565 | PHASE4 | COMPLETED | Dose Response Effects of Quillivant XR in Children With ADHD and Autism: A Pilot Study |
| NCT02940574 | PHASE4 | COMPLETED | Neural and Behavioral Effects of Oxytocin in Autism Spectrum Disorders |
| NCT03333629 | PHASE4 | COMPLETED | Promoting Positive Outcomes for Individuals With ASD: Linking Early Detection, Treatment, and Long-term Outcomes |
| NCT03337646 | PHASE4 | COMPLETED | Evaluation of the Effect and Safety of Lisdexamfetamine in Children Aged 6-12 With ADHD and Autism |
| NCT03538431 | PHASE4 | COMPLETED | Improving Driving in Young People With Autism Spectrum Disorders |
| NCT03757585 | PHASE4 | COMPLETED | Natural Treatments for the Management of Emotional Dysregulation in Youth With Non-verbal Learning Disability (NVLD) and/or Autism Spectrum Disorders (ASD) |
| NCT04903353 | PHASE4 | COMPLETED | Pragmatic Trial Comparing Weight Gain in Children With Autism Taking Risperidone Versus Aripiprazole |
| NCT05063656 | PHASE4 | COMPLETED | Biomarker-Driven Pharmacological Treatment of Adolescents With Autism Spectrum Disorder With Gabapentin |
| NCT05146245 | PHASE4 | UNKNOWN | Safety and Pharmacokinetics of Antipsychotics in Children 2: Studying TDM in an RCT |
| NCT05916339 | PHASE4 | RECRUITING | AWARE: Management of ADHD in Autism Spectrum Disorder |
| NCT05954052 | PHASE4 | TERMINATED | A Study of Glutathione in Children With Autism Spectrum Disorder |
| NCT06853665 | PHASE4 | RECRUITING | The TEAM Study - Treatment Efficacy for Autism/Attention Using Mixed Amphetamine |
| NCT07054697 | PHASE4 | COMPLETED | Pilot-RCT With Individualized Homeopathic Treatment in the Children With Autism Spectrum Disorder |
| NCT07161804 | PHASE4 | COMPLETED | Pilot RCT Using Homeopathic Medicines in ASD |
| NCT07439042 | PHASE4 | NOT_YET_RECRUITING | Buspirone for Anxiety in Autistic Youth |
| NCT00036231 | PHASE3 | TERMINATED | Synthetic Human Secretin in Children With Autism and Gastrointestinal Dysfunction |
| NCT00036244 | PHASE3 | COMPLETED | Synthetic Human Secretin in Children With Autism |
| NCT00065884 | PHASE3 | UNKNOWN | Valproate Response in Aggressive Autistic Adolescents |
| NCT00065962 | PHASE3 | COMPLETED | Secretin for the Treatment of Autism |
| NCT00252603 | PHASE3 | COMPLETED | Galantamine Versus Placebo in Childhood Autism |
| NCT00346736 | PHASE3 | COMPLETED | Use of Acupuncture In Children With Autistic Spectrum Disorder |
| NCT00352248 | PHASE3 | COMPLETED | Randomized Controlled Trial of Acupuncture Versus Sham Acupuncture in Autistic Spectrum Disorder |
| NCT00352352 | PHASE3 | COMPLETED | Use of Acupuncture In Children With Autistic Spectrum Disorder |
| NCT00355329 | PHASE3 | COMPLETED | Randomized Control Trial of Using Tongue Acupuncture in Autistic Spectrum Disorder Using PET Scan for Clinical Correlation |
| NCT00498173 | PHASE3 | COMPLETED | Effectiveness of Atomoxetine in Treating ADHD Symptoms in Children and Adolescents With Autism |
| NCT00541346 | PHASE3 | COMPLETED | A Pilot Study of Daytrana TM in Children With Autism Co-Morbid for Attention Deficit Hyperactivity Disorder (ADHD) Symptoms |
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.