CCDC186
geneOn this page
Also known as FLJ10188FLJ35301CCCP-1golgin104
Summary
CCDC186 (coiled-coil domain containing 186, HGNC:24349) is a protein-coding gene on chromosome 10q25.3, encoding Coiled-coil domain-containing protein 186 (Q7Z3E2).
Predicted to enable small GTPase binding activity. Predicted to be involved in vesicle cytoskeletal trafficking. Predicted to act upstream of or within insulin secretion involved in cellular response to glucose stimulus and response to bacterium. Predicted to be located in Golgi apparatus. Predicted to be active in trans-Golgi network.
Source: NCBI Gene 55088 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 130 total — 2 pathogenic
- Phenotypes (HPO): 1
- MANE Select transcript:
NM_018017
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:24349 |
| Approved symbol | CCDC186 |
| Name | coiled-coil domain containing 186 |
| Location | 10q25.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ10188, FLJ35301, CCCP-1, golgin104 |
| Ensembl gene | ENSG00000165813 |
| Ensembl biotype | protein_coding |
| OMIM | 619249 |
| Entrez | 55088 |
Gene structure
Transcript identifiers
Ensembl transcripts: 8 — 6 protein_coding, 1 retained_intron, 1 protein_coding_CDS_not_defined
ENST00000369285, ENST00000369286, ENST00000369287, ENST00000428953, ENST00000490661, ENST00000497592, ENST00000648613, ENST00000912199
RefSeq mRNA: 3 — MANE Select: NM_018017
NM_001321829, NM_018017, NM_153249
CCDS: CCDS7587, CCDS81506
Canonical transcript exons
ENST00000369287 — 16 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000724795 | 114127461 | 114127671 |
| ENSE00000724799 | 114129891 | 114129971 |
| ENSE00001298678 | 114136148 | 114136246 |
| ENSE00001300046 | 114134913 | 114135055 |
| ENSE00001322127 | 114131929 | 114132184 |
| ENSE00001340447 | 114125886 | 114126105 |
| ENSE00001352806 | 114135891 | 114135977 |
| ENSE00001352813 | 114137186 | 114137290 |
| ENSE00001449416 | 114120862 | 114125226 |
| ENSE00001677417 | 114157554 | 114157680 |
| ENSE00001682905 | 114151092 | 114151220 |
| ENSE00001710956 | 114144497 | 114144616 |
| ENSE00001724445 | 114145549 | 114145761 |
| ENSE00002497072 | 114162637 | 114163329 |
| ENSE00003514147 | 114131147 | 114131336 |
| ENSE00003842829 | 114174015 | 114174203 |
Expression profiles
Bgee: expression breadth ubiquitous, 263 present calls, max score 95.96.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 16.8799 / max 1176.9964, expressed in 1727 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 111471 | 16.2672 | 1725 |
| 111467 | 0.6126 | 204 |
Top tissues by expression
286 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| sperm | CL:0000019 | 95.96 | gold quality |
| jejunal mucosa | UBERON:0000399 | 94.61 | gold quality |
| calcaneal tendon | UBERON:0003701 | 93.64 | gold quality |
| caput epididymis | UBERON:0004358 | 92.64 | gold quality |
| upper leg skin | UBERON:0004262 | 92.06 | gold quality |
| male germ cell | CL:0000015 | 91.97 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 91.96 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 91.82 | gold quality |
| buccal mucosa cell | CL:0002336 | 91.79 | gold quality |
| colonic mucosa | UBERON:0000317 | 91.42 | gold quality |
| colonic epithelium | UBERON:0000397 | 91.39 | gold quality |
| oocyte | CL:0000023 | 91.38 | gold quality |
| bronchial epithelial cell | CL:0002328 | 91.25 | gold quality |
| amniotic fluid | UBERON:0000173 | 91.20 | gold quality |
| skin of hip | UBERON:0001554 | 91.08 | gold quality |
| body of pancreas | UBERON:0001150 | 90.38 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 90.33 | gold quality |
| tendon | UBERON:0000043 | 90.05 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 89.97 | gold quality |
| corpus epididymis | UBERON:0004359 | 89.91 | gold quality |
| oral cavity | UBERON:0000167 | 89.38 | gold quality |
| rectum | UBERON:0001052 | 89.16 | gold quality |
| seminal vesicle | UBERON:0000998 | 89.07 | gold quality |
| tibia | UBERON:0000979 | 88.37 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 88.20 | gold quality |
| pancreas | UBERON:0001264 | 88.03 | gold quality |
| jejunum | UBERON:0002115 | 88.01 | gold quality |
| tonsil | UBERON:0002372 | 87.98 | gold quality |
| synovial joint | UBERON:0002217 | 87.80 | gold quality |
| mammalian vulva | UBERON:0000997 | 87.47 | gold quality |
Single-cell (SCXA)
Detected in 5 experiment(s), a significant marker in 5.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-112 | yes | 15.58 |
| E-MTAB-8498 | yes | 13.41 |
| E-MTAB-9067 | yes | 12.12 |
| E-MTAB-9388 | yes | 5.82 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
264 targeting CCDC186, 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-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-4668-3P | 100.00 | 68.74 | 2635 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-9-5P | 100.00 | 72.28 | 2361 |
| HSA-MIR-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| 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-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-4531 | 99.99 | 69.70 | 3181 |
| HSA-MIR-196A-1-3P | 99.99 | 72.15 | 2772 |
| HSA-MIR-513B-5P | 99.99 | 69.96 | 2150 |
| HSA-MIR-6077 | 99.99 | 68.04 | 2299 |
| HSA-LET-7F-2-3P | 99.98 | 70.98 | 2588 |
| HSA-MIR-1185-1-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-1185-2-3P | 99.98 | 71.04 | 2593 |
Literature-anchored findings (GeneRIF, showing 2)
- A homozygous truncating variant in CCDC186 in an individual with epileptic encephalopathy. (PMID:33259146)
- Functional Evidence of CCDC186 as a New Disease-Associated Gene with Endocrine and Central Nervous System Alterations. (PMID:37569695)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ccdc186 | ENSDARG00000061020 |
| mus_musculus | Ccdc186 | ENSMUSG00000035173 |
| rattus_norvegicus | Ccdc186 | ENSRNOG00000051680 |
| drosophila_melanogaster | Golgin104 | FBGN0036614 |
| caenorhabditis_elegans | WBGENE00013042 |
Protein
Protein identifiers
Coiled-coil domain-containing protein 186 — Q7Z3E2 (reviewed: Q7Z3E2)
Alternative names: CTCL tumor antigen HD-CL-01/L14-2
All UniProt accessions (3): A0A0C4DFU7, Q7Z3E2, H0Y7V5
UniProt curated annotations — full annotation on UniProt →
RefSeq proteins (3): NP_001308758, NP_060487, NP_694981 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR038830 | CCDC186 | Family |
UniProt features (21 total): sequence conflict 5, compositionally biased region 3, sequence variant 3, region of interest 3, coiled-coil region 3, modified residue 2, initiator methionine 1, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q7Z3E2-F1 | 74.62 | 0.43 |
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 (2): 2, 740
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 241 (showing top):
GOBP_VESICLE_LOCALIZATION, GOBP_INSULIN_SECRETION, GOBP_CELLULAR_RESPONSE_TO_CARBOHYDRATE_STIMULUS, GOBP_REGULATION_OF_HORMONE_LEVELS, GOBP_HORMONE_TRANSPORT, AP4_Q6, GOMF_GTPASE_BINDING, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, CAGCTG_AP4_Q5, YY1_Q6, GOBP_CELL_CELL_SIGNALING, GOCC_TRANS_GOLGI_NETWORK, GOBP_VESICLE_CYTOSKELETAL_TRAFFICKING, KOYAMA_SEMA3B_TARGETS_UP, YY1_02
GO Biological Process (4): response to bacterium (GO:0009617), insulin secretion involved in cellular response to glucose stimulus (GO:0035773), vesicle cytoskeletal trafficking (GO:0099518), glucose homeostasis (GO:0042593)
GO Molecular Function (1): small GTPase binding (GO:0031267)
GO Cellular Component (2): trans-Golgi network (GO:0005802), Golgi apparatus (GO:0005794)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| response to other organism | 1 |
| insulin secretion | 1 |
| establishment of localization in cell | 1 |
| cellular response to glucose stimulus | 1 |
| cytoskeleton-dependent intracellular transport | 1 |
| establishment of vesicle localization | 1 |
| carbohydrate homeostasis | 1 |
| GTPase binding | 1 |
| Golgi apparatus subcompartment | 1 |
| cytoplasm | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
678 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CCDC186 | EIPR1 | Q53HC9 | 717 |
| CCDC186 | VPS50 | Q96JG6 | 626 |
| CCDC186 | VPS54 | Q9P1Q0 | 566 |
| CCDC186 | VPS51 | Q9UID3 | 566 |
| CCDC186 | NHLRC2 | Q8NBF2 | 566 |
| CCDC186 | RUNDC1 | Q96C34 | 546 |
| CCDC186 | CCDC138 | Q96M89 | 526 |
| CCDC186 | ICA1 | P78506 | 491 |
| CCDC186 | RUFY1 | Q96T51 | 485 |
| CCDC186 | PLEKHS1 | Q5SXH7 | 474 |
| CCDC186 | TECTB | Q96PL2 | 463 |
| CCDC186 | ZDHHC6 | Q9H6R6 | 460 |
| CCDC186 | CPD | O75976 | 452 |
| CCDC186 | ADRB1 | P08588 | 449 |
| CCDC186 | RAB2A | P08886 | 448 |
IntAct
38 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SIKE1 | SLMAP | psi-mi:“MI:0914”(association) | 0.770 |
| TEPSIN | AP4M1 | psi-mi:“MI:0914”(association) | 0.700 |
| CCDC186 | psi-mi:“MI:0915”(physical association) | 0.550 | |
| YES1 | AIP | psi-mi:“MI:0914”(association) | 0.530 |
| NUP62 | RGPD8 | psi-mi:“MI:0914”(association) | 0.530 |
| RAB27B | GBA1 | psi-mi:“MI:0914”(association) | 0.530 |
| YES1 | SERPINB2 | psi-mi:“MI:0914”(association) | 0.530 |
| CCDC186 | H1-4 | psi-mi:“MI:0915”(physical association) | 0.400 |
| DUSP23 | CCDC186 | psi-mi:“MI:0915”(physical association) | 0.370 |
| GAMMAHV.ORF23 | CCDC186 | psi-mi:“MI:0915”(physical association) | 0.370 |
| Rassf1 | TTC31 | psi-mi:“MI:0914”(association) | 0.350 |
| Pten | MPZL1 | psi-mi:“MI:0914”(association) | 0.350 |
| Ktn1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| TSNAXIP1 | USO1 | psi-mi:“MI:0914”(association) | 0.350 |
| RUNDC3A | GMNN | psi-mi:“MI:0914”(association) | 0.350 |
| RAB27B | GBA1 | psi-mi:“MI:0914”(association) | 0.350 |
| CCDC22 | psi-mi:“MI:0914”(association) | 0.350 | |
| ATG16L1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| KRT38 | KRBA1 | psi-mi:“MI:0914”(association) | 0.350 |
| KRT27 | CCDC88B | psi-mi:“MI:0914”(association) | 0.350 |
| KRT40 | ANKRD36 | psi-mi:“MI:0914”(association) | 0.350 |
| WHAMMP3 | EXOC5 | psi-mi:“MI:0914”(association) | 0.350 |
| DRC3 | ZNF195 | psi-mi:“MI:0914”(association) | 0.350 |
| RABEP1 | KIF20A | psi-mi:“MI:0914”(association) | 0.350 |
| SIKE1 | ALDH7A1 | psi-mi:“MI:0914”(association) | 0.350 |
| TSNAXIP1 | DPP8 | psi-mi:“MI:0914”(association) | 0.350 |
| FHIP2A | MED19 | psi-mi:“MI:2364”(proximity) | 0.270 |
BioGRID (44): CCDC186 (Affinity Capture-MS), CCDC186 (Affinity Capture-MS), CCDC186 (Affinity Capture-MS), CCDC186 (Affinity Capture-MS), CCDC186 (Affinity Capture-MS), CCDC186 (Affinity Capture-MS), CCDC186 (Affinity Capture-MS), CCDC186 (Affinity Capture-MS), CCDC186 (Biochemical Activity), CCDC186 (Proximity Label-MS), CCDC186 (Proximity Label-MS), CCDC186 (Affinity Capture-MS), CCDC186 (Proximity Label-MS), CCDC186 (Proximity Label-MS), CCDC186 (Affinity Capture-MS)
ESM2 similar proteins: A0PJP4, A0PJT0, A2VDP1, A4IFK7, D3ZUQ0, E9PSL7, O14578, O75665, P0C219, P49025, P97817, Q01850, Q0IHE5, Q14BN4, Q17QG3, Q28623, Q3LGD4, Q3SYW5, Q3URD3, Q3V079, Q4R3X1, Q4R7Y8, Q58A65, Q5DTM8, Q5EBL4, Q5R5R4, Q5VTR2, Q5ZJA3, Q5ZLS3, Q62172, Q62796, Q68CZ1, Q6AYA0, Q6DFC2, Q6DH86, Q6NRH3, Q6ZUS6, Q7Z3E2, Q86VS8, Q8BR07
Diamond homologs: Q5R9B3, Q7Z3E2, Q8C9S4
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
130 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 2 |
| Likely pathogenic | 0 |
| Uncertain significance | 111 |
| Likely benign | 4 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (2)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1120267 | NM_018017.4(CCDC186):c.767C>G (p.Ser256Ter) | Pathogenic |
| 253479 | GRCh37/hg19 10q24.32-26.3(chr10:103288313-135512075)x3 | Pathogenic |
SpliceAI
2155 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 10:114125913:AT:A | donor_gain | 1.0000 |
| 10:114125913:ATCCT:A | donor_gain | 1.0000 |
| 10:114125926:G:GA | donor_gain | 1.0000 |
| 10:114126101:TTATT:T | acceptor_gain | 1.0000 |
| 10:114126102:TATT:T | acceptor_gain | 1.0000 |
| 10:114126103:ATTC:A | acceptor_loss | 1.0000 |
| 10:114126104:TT:T | acceptor_gain | 1.0000 |
| 10:114126104:TTC:T | acceptor_loss | 1.0000 |
| 10:114126105:TC:T | acceptor_loss | 1.0000 |
| 10:114126106:C:CC | acceptor_gain | 1.0000 |
| 10:114126106:CTGCA:C | acceptor_loss | 1.0000 |
| 10:114126107:T:A | acceptor_loss | 1.0000 |
| 10:114127456:CATA:C | donor_gain | 1.0000 |
| 10:114127459:A:AC | donor_gain | 1.0000 |
| 10:114127460:C:CG | donor_gain | 1.0000 |
| 10:114127460:CT:C | donor_gain | 1.0000 |
| 10:114127460:CTTT:C | donor_gain | 1.0000 |
| 10:114127460:CTTTG:C | donor_gain | 1.0000 |
| 10:114127471:T:A | donor_gain | 1.0000 |
| 10:114127482:T:TA | donor_gain | 1.0000 |
| 10:114127482:TCC:T | donor_gain | 1.0000 |
| 10:114127667:GGACC:G | acceptor_gain | 1.0000 |
| 10:114127668:GACC:G | acceptor_gain | 1.0000 |
| 10:114127670:CC:C | acceptor_gain | 1.0000 |
| 10:114127670:CCCT:C | acceptor_loss | 1.0000 |
| 10:114127671:CC:C | acceptor_gain | 1.0000 |
| 10:114127672:C:CC | acceptor_gain | 1.0000 |
| 10:114129972:C:CC | acceptor_gain | 1.0000 |
| 10:114131146:CCTTG:C | donor_gain | 1.0000 |
| 10:114131215:T:C | donor_gain | 1.0000 |
AlphaMissense
5963 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 10:114125927:C:G | A858P | 1.000 |
| 10:114127511:A:C | F781L | 1.000 |
| 10:114127511:A:T | F781L | 1.000 |
| 10:114127513:A:G | F781L | 1.000 |
| 10:114127551:A:G | L768P | 1.000 |
| 10:114125219:A:G | L874P | 0.999 |
| 10:114125905:A:G | L865P | 0.999 |
| 10:114125932:A:G | L856S | 0.999 |
| 10:114125956:A:G | L848P | 0.999 |
| 10:114127488:A:G | L789P | 0.999 |
| 10:114127500:T:G | H785P | 0.999 |
| 10:114127512:A:C | F781C | 0.999 |
| 10:114127512:A:G | F781S | 0.999 |
| 10:114127533:C:G | R774P | 0.999 |
| 10:114127537:C:G | A773P | 0.999 |
| 10:114127572:A:G | L761S | 0.999 |
| 10:114132056:A:G | L595P | 0.999 |
| 10:114132077:A:G | L588P | 0.999 |
| 10:114125189:A:G | L884P | 0.998 |
| 10:114125898:A:C | N867K | 0.998 |
| 10:114125898:A:T | N867K | 0.998 |
| 10:114125902:T:A | K866I | 0.998 |
| 10:114125914:T:G | D862A | 0.998 |
| 10:114125915:C:G | D862H | 0.998 |
| 10:114125923:A:T | V859D | 0.998 |
| 10:114127467:T:A | K796I | 0.998 |
| 10:114127501:G:C | H785D | 0.998 |
| 10:114127543:C:G | A771P | 0.998 |
| 10:114127547:T:A | Q769H | 0.998 |
| 10:114127547:T:G | Q769H | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000014741 (10:114141252 C>G), RS1000273737 (10:114123711 A>C,G), RS1000283398 (10:114120654 C>G), RS1000321418 (10:114153638 T>C), RS1000321755 (10:114166467 T>C), RS1000364733 (10:114128759 A>G), RS1000385276 (10:114153980 C>T), RS1000425800 (10:114160033 G>A), RS1000455414 (10:114160297 C>A,G,T), RS1000652688 (10:114166268 C>G,T), RS1000761023 (10:114158700 T>C), RS1000854980 (10:114170743 G>A,T), RS1000898652 (10:114135421 T>C), RS1000907124 (10:114171086 C>A,T), RS1000943604 (10:114126941 A>T)
Disease associations
OMIM: gene MIM:619249 | disease phenotypes:
GenCC curated gene-disease
Mondo (3): microcephaly (MONDO:0001149), hypothyroidism (MONDO:0005420), pulmonary valve stenosis (MONDO:0006936)
Orphanet (0):
HPO phenotypes
1 total (1 of 1 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000252 | Microcephaly |
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST009391_455 | Metabolite levels | 9.000000e-06 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0010521 | phosphocreatine measurement |
MeSH disease descriptors (3)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D007037 | Hypothyroidism | C19.874.482 |
| D008831 | Microcephaly | C05.660.207.620; C10.500.507.400.500; C16.131.621.207.620; C16.131.666.507.400.500 |
| D011666 | Pulmonary Valve Stenosis | C14.280.484.716; C14.280.955.750 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
34 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Formaldehyde | decreases expression, increases expression | 2 |
| Cyclosporine | increases expression | 2 |
| GSK-J4 | increases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| geldanamycin | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| trichostatin A | decreases expression | 1 |
| methylparaben | increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| sodium arsenite | increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| 2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide | increases expression | 1 |
| jinfukang | decreases expression | 1 |
| Bortezomib | increases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Vorinostat | decreases expression | 1 |
| Leflunomide | increases expression | 1 |
| Benzo(a)pyrene | decreases methylation | 1 |
| Ethyl Methanesulfonate | increases expression | 1 |
| Fluorouracil | increases expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Plant Extracts | increases expression, affects cotreatment | 1 |
| Testosterone | decreases expression | 1 |
| Thimerosal | decreases expression | 1 |
| Thiram | increases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Tretinoin | decreases expression | 1 |
| Urethane | increases expression | 1 |
| Vincristine | decreases expression | 1 |
Clinical trials (associated diseases)
163 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00001730 | PHASE4 | COMPLETED | Study of Radioiodine (131-I) Uptake Following Administration of Thyrogen and Hypothyroid States During Thyroid Hormone Withdrawal. |
| NCT00111735 | PHASE4 | UNKNOWN | Thyroxine Titration Study |
| NCT00206375 | PHASE4 | TERMINATED | Growth Hormone and GnRH Agonist in Adolescents With Acquired Hypothyroidism |
| NCT00565864 | PHASE4 | COMPLETED | Neurocognitive and Metabolic Effects of Mild Hypothyroidism |
| NCT01379170 | PHASE4 | UNKNOWN | Thyroid Study Type 2 Diabetes Mellitus (T2DM) |
| NCT01536678 | PHASE4 | COMPLETED | Bioequivalence of Two Levothyroxine Tablet Formulations in Healthy Indian Volunteers |
| NCT01647750 | PHASE4 | COMPLETED | Study of Optimal Replacement of Thyroxine in the Elderly |
| NCT01769157 | PHASE4 | COMPLETED | Effects of L-carnitine on Hypothyroidism |
| NCT01831869 | PHASE4 | UNKNOWN | Effect of L-Thyroxine on Lipid Profiles and Atherosclerosis in Subclinical Hypothyroidism |
| NCT01848171 | PHASE4 | UNKNOWN | Effects of L-thyroxine Replacement on Serum Lipid and Atherosclerosis in Hypothyroidism |
| NCT01921452 | PHASE4 | COMPLETED | Study to Verify Clinical Utility of Point-of-Care (POC) Thyroid Stimulating Hormone (TSH) Test Kits as Compared to Third Generation TSH Test Kit |
| NCT02280330 | PHASE4 | COMPLETED | Iodine Status of Preschoolers Given Micronutrient Powder for 6 Months |
| NCT02512978 | PHASE4 | UNKNOWN | Thyroid Hormone Replacement for Hypothyroidism and Acute Myocardial Infarction(ThyroHeart-AMI) |
| NCT02577367 | PHASE4 | WITHDRAWN | Mean Percentage of Levothyroxine Dosage Increase in Patients With Hypothyroidism Started on Enteral Feeding |
| NCT02917863 | PHASE4 | UNKNOWN | Randomized Crossover Trial for the Evaluation of the Possible Effects in the Intestine of Two Different Pharmaceutical Forms of L - Thyroxine in Patients With Primary Acquired Hypothyroidism |
| NCT03342001 | PHASE4 | COMPLETED | Hypothyroidism Treated With Calcitonin |
| NCT03631771 | PHASE4 | WITHDRAWN | Pediatric Risk of Hypothyroidism With Iodinated Contrast Media |
| NCT03779906 | PHASE4 | TERMINATED | Thyroid Function of Pediatric Subjects Following Isovue® Administration |
| NCT04747275 | PHASE4 | TERMINATED | Use of Liquid Stable Levothyroxine in Trisomy 21 Pediatric Patients |
| NCT04878614 | PHASE4 | TERMINATED | Comparison of Levothyroxine Formulation in Hypothyroid Patients With Enteral Feeding |
| NCT05247476 | PHASE4 | UNKNOWN | Type 2 Deiodinase Gene Polymorphism and the Treatment of Hypothyroidism Caused by Thyroidectomy in Thyroid Cancer Patients. |
| NCT06073665 | PHASE4 | RECRUITING | Dosing of LT4 in Older Individuals |
| NCT06096454 | PHASE4 | UNKNOWN | Effect of Life Style Modification and Metformin on Hypothyroidism With Insulin Resistance |
| NCT01204359 | PHASE3 | UNKNOWN | The Prospective Study of Standard Treatment of Graves Disease Iodine 131 and Prevention of Adverse Reactions |
| NCT01800617 | PHASE2 | COMPLETED | A Study of T3 Therapy in Patients With Hypothyroidism |
| NCT01916304 | PHASE2 | COMPLETED | Study of Dose Adjustment From Levothyroxine to a New Levothyroxine Sodium Test Formulation |
| NCT03627611 | PHASE2 | COMPLETED | Identification of Non-responders to Levothyroxine Therapy |
| NCT04124705 | PHASE2 | COMPLETED | A Study of Armour® Thyroid Compared to Synthetic T4 (Levothyroxine) in Previously Hypothyroid Participants |
| NCT04782856 | PHASE2 | COMPLETED | Energy Metabolism in Thyroidectomized Patients |
| NCT05412979 | PHASE2 | COMPLETED | A Study Evaluating the Safety and Efficacy of Hormone Replacement Therapy With ST-1891 Compared to Levothyroxine in Patients With Primary Hypothyroidism |
| NCT05712421 | PHASE2 | COMPLETED | A Study Evaluation the Safety and Efficacy of Hormone Replacement Therapy With North Star Compared to Levothyroxine in Patients With Primary Hypothyroidism |
| NCT05733078 | PHASE2 | UNKNOWN | Effect of Vitamin C Supplementation in Patients With Primary Hypothyroidism |
| NCT05804149 | PHASE2 | COMPLETED | Effect of Acupuncture and Low Caloric Diet on Primary Hypothyroidism and Irregular Menstruation in Infertile Women |
| NCT05823012 | PHASE2 | COMPLETED | Study of XP-8121 For the Treatment of Adult Subjects With Hypothyroidism |
| NCT05518188 | PHASE1/PHASE2 | RECRUITING | Melpida: Recombinant Adeno-associated Virus (serotype 9) Encoding a Codon Optimized Human AP4M1 Transgene (hAP4M1opt) |
| NCT00001639 | Not specified | COMPLETED | Evaluation of Patients With Unresolved Chromosome Abnormalities |
| NCT01151462 | Not specified | WITHDRAWN | Postnatal HCMV Infection in Very Preterm Infants. Implications, Morbidity, Growth and Neurodevelopmental Outcomes. |
| NCT01565005 | Not specified | COMPLETED | Microcephaly Genetic Deficiency in Neural Progenitors |
| NCT02510170 | Not specified | COMPLETED | Fetal and Maternal Head Circumference During Pregnancy in Israeli Population |
| NCT02741882 | Not specified | COMPLETED | Zika and Microcephaly: Case-control Study |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): hypothyroidism, pulmonary valve stenosis