CCDC186

gene
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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

FieldValue
HGNC IDHGNC:24349
Approved symbolCCDC186
Namecoiled-coil domain containing 186
Location10q25.3
Locus typegene with protein product
StatusApproved
AliasesFLJ10188, FLJ35301, CCCP-1, golgin104
Ensembl geneENSG00000165813
Ensembl biotypeprotein_coding
OMIM619249
Entrez55088

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

ExonStartEnd
ENSE00000724795114127461114127671
ENSE00000724799114129891114129971
ENSE00001298678114136148114136246
ENSE00001300046114134913114135055
ENSE00001322127114131929114132184
ENSE00001340447114125886114126105
ENSE00001352806114135891114135977
ENSE00001352813114137186114137290
ENSE00001449416114120862114125226
ENSE00001677417114157554114157680
ENSE00001682905114151092114151220
ENSE00001710956114144497114144616
ENSE00001724445114145549114145761
ENSE00002497072114162637114163329
ENSE00003514147114131147114131336
ENSE00003842829114174015114174203

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 IDTPM avgSamples expressed
11147116.26721725
1114670.6126204

Top tissues by expression

286 total, by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
spermCL:000001995.96gold quality
jejunal mucosaUBERON:000039994.61gold quality
calcaneal tendonUBERON:000370193.64gold quality
caput epididymisUBERON:000435892.64gold quality
upper leg skinUBERON:000426292.06gold quality
male germ cellCL:000001591.97gold quality
palpebral conjunctivaUBERON:000181291.96gold quality
mucosa of sigmoid colonUBERON:000499391.82gold quality
buccal mucosa cellCL:000233691.79gold quality
colonic mucosaUBERON:000031791.42gold quality
colonic epitheliumUBERON:000039791.39gold quality
oocyteCL:000002391.38gold quality
bronchial epithelial cellCL:000232891.25gold quality
amniotic fluidUBERON:000017391.20gold quality
skin of hipUBERON:000155491.08gold quality
body of pancreasUBERON:000115090.38gold quality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047390.33gold quality
tendonUBERON:000004390.05gold quality
mucosa of paranasal sinusUBERON:000503089.97gold quality
corpus epididymisUBERON:000435989.91gold quality
oral cavityUBERON:000016789.38gold quality
rectumUBERON:000105289.16gold quality
seminal vesicleUBERON:000099889.07gold quality
tibiaUBERON:000097988.37gold quality
esophagus squamous epitheliumUBERON:000692088.20gold quality
pancreasUBERON:000126488.03gold quality
jejunumUBERON:000211588.01gold quality
tonsilUBERON:000237287.98gold quality
synovial jointUBERON:000221787.80gold quality
mammalian vulvaUBERON:000099787.47gold quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 5.

ExperimentMarker?Max mean expression
E-CURD-112yes15.58
E-MTAB-8498yes13.41
E-MTAB-9067yes12.12
E-MTAB-9388yes5.82
E-ANND-3no0.00

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):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-5692A100.0074.406850
HSA-MIR-5011-5P100.0083.465820
HSA-MIR-8485100.0077.574731
HSA-MIR-4668-3P100.0068.742635
HSA-MIR-3613-3P100.0076.367965
HSA-LET-7B-3P100.0074.083913
HSA-LET-7F-1-3P100.0074.023928
HSA-LET-7A-3P100.0074.033932
HSA-MIR-98-3P100.0074.083907
HSA-MIR-126-5P100.0072.713180
HSA-MIR-1277-5P100.0073.955056
HSA-MIR-190A-3P100.0080.355520
HSA-MIR-4795-3P100.0074.624024
HSA-MIR-3646100.0073.565283
HSA-MIR-9-5P100.0072.282361
HSA-MIR-5692B100.0071.322622
HSA-MIR-5692C100.0071.322622
HSA-MIR-200B-3P100.0073.312693
HSA-MIR-200C-3P100.0073.352685
HSA-MIR-429100.0073.442698
HSA-MIR-340-5P100.0072.504437
HSA-MIR-428299.9975.366408
HSA-MIR-548C-3P99.9974.017587
HSA-MIR-453199.9969.703181
HSA-MIR-196A-1-3P99.9972.152772
HSA-MIR-513B-5P99.9969.962150
HSA-MIR-607799.9968.042299
HSA-LET-7F-2-3P99.9870.982588
HSA-MIR-1185-1-3P99.9871.042593
HSA-MIR-1185-2-3P99.9871.042593

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

OrganismSymbolGene ID
danio_rerioccdc186ENSDARG00000061020
mus_musculusCcdc186ENSMUSG00000035173
rattus_norvegicusCcdc186ENSRNOG00000051680
drosophila_melanogasterGolgin104FBGN0036614
caenorhabditis_elegansWBGENE00013042

Protein

Protein identifiers

Coiled-coil domain-containing protein 186Q7Z3E2 (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)

IDNameType
IPR038830CCDC186Family

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)

ModelpLDDTFraction very-high
AF-Q7Z3E2-F174.620.43

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:

CategoryTerms
response to other organism1
insulin secretion1
establishment of localization in cell1
cellular response to glucose stimulus1
cytoskeleton-dependent intracellular transport1
establishment of vesicle localization1
carbohydrate homeostasis1
GTPase binding1
Golgi apparatus subcompartment1
cytoplasm1
endomembrane system1
intracellular membrane-bounded organelle1

Protein interactions and networks

STRING

678 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
CCDC186EIPR1Q53HC9717
CCDC186VPS50Q96JG6626
CCDC186VPS54Q9P1Q0566
CCDC186VPS51Q9UID3566
CCDC186NHLRC2Q8NBF2566
CCDC186RUNDC1Q96C34546
CCDC186CCDC138Q96M89526
CCDC186ICA1P78506491
CCDC186RUFY1Q96T51485
CCDC186PLEKHS1Q5SXH7474
CCDC186TECTBQ96PL2463
CCDC186ZDHHC6Q9H6R6460
CCDC186CPDO75976452
CCDC186ADRB1P08588449
CCDC186RAB2AP08886448

IntAct

38 interactions, top by confidence:

ABTypeScore
SIKE1SLMAPpsi-mi:“MI:0914”(association)0.770
TEPSINAP4M1psi-mi:“MI:0914”(association)0.700
CCDC186psi-mi:“MI:0915”(physical association)0.550
YES1AIPpsi-mi:“MI:0914”(association)0.530
NUP62RGPD8psi-mi:“MI:0914”(association)0.530
RAB27BGBA1psi-mi:“MI:0914”(association)0.530
YES1SERPINB2psi-mi:“MI:0914”(association)0.530
CCDC186H1-4psi-mi:“MI:0915”(physical association)0.400
DUSP23CCDC186psi-mi:“MI:0915”(physical association)0.370
GAMMAHV.ORF23CCDC186psi-mi:“MI:0915”(physical association)0.370
Rassf1TTC31psi-mi:“MI:0914”(association)0.350
PtenMPZL1psi-mi:“MI:0914”(association)0.350
Ktn1ESYT2psi-mi:“MI:0914”(association)0.350
TSNAXIP1USO1psi-mi:“MI:0914”(association)0.350
RUNDC3AGMNNpsi-mi:“MI:0914”(association)0.350
RAB27BGBA1psi-mi:“MI:0914”(association)0.350
CCDC22psi-mi:“MI:0914”(association)0.350
ATG16L1ESYT2psi-mi:“MI:0914”(association)0.350
KRT38KRBA1psi-mi:“MI:0914”(association)0.350
KRT27CCDC88Bpsi-mi:“MI:0914”(association)0.350
KRT40ANKRD36psi-mi:“MI:0914”(association)0.350
WHAMMP3EXOC5psi-mi:“MI:0914”(association)0.350
DRC3ZNF195psi-mi:“MI:0914”(association)0.350
RABEP1KIF20Apsi-mi:“MI:0914”(association)0.350
SIKE1ALDH7A1psi-mi:“MI:0914”(association)0.350
TSNAXIP1DPP8psi-mi:“MI:0914”(association)0.350
FHIP2AMED19psi-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):

ClassificationCount (floor)
Pathogenic2
Likely pathogenic0
Uncertain significance111
Likely benign4
Benign2

Top pathogenic / likely-pathogenic (2)

Variant IDHGVSClassification
1120267NM_018017.4(CCDC186):c.767C>G (p.Ser256Ter)Pathogenic
253479GRCh37/hg19 10q24.32-26.3(chr10:103288313-135512075)x3Pathogenic

SpliceAI

2155 predictions. Top by Δscore:

VariantEffectΔscore
10:114125913:AT:Adonor_gain1.0000
10:114125913:ATCCT:Adonor_gain1.0000
10:114125926:G:GAdonor_gain1.0000
10:114126101:TTATT:Tacceptor_gain1.0000
10:114126102:TATT:Tacceptor_gain1.0000
10:114126103:ATTC:Aacceptor_loss1.0000
10:114126104:TT:Tacceptor_gain1.0000
10:114126104:TTC:Tacceptor_loss1.0000
10:114126105:TC:Tacceptor_loss1.0000
10:114126106:C:CCacceptor_gain1.0000
10:114126106:CTGCA:Cacceptor_loss1.0000
10:114126107:T:Aacceptor_loss1.0000
10:114127456:CATA:Cdonor_gain1.0000
10:114127459:A:ACdonor_gain1.0000
10:114127460:C:CGdonor_gain1.0000
10:114127460:CT:Cdonor_gain1.0000
10:114127460:CTTT:Cdonor_gain1.0000
10:114127460:CTTTG:Cdonor_gain1.0000
10:114127471:T:Adonor_gain1.0000
10:114127482:T:TAdonor_gain1.0000
10:114127482:TCC:Tdonor_gain1.0000
10:114127667:GGACC:Gacceptor_gain1.0000
10:114127668:GACC:Gacceptor_gain1.0000
10:114127670:CC:Cacceptor_gain1.0000
10:114127670:CCCT:Cacceptor_loss1.0000
10:114127671:CC:Cacceptor_gain1.0000
10:114127672:C:CCacceptor_gain1.0000
10:114129972:C:CCacceptor_gain1.0000
10:114131146:CCTTG:Cdonor_gain1.0000
10:114131215:T:Cdonor_gain1.0000

AlphaMissense

5963 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
10:114125927:C:GA858P1.000
10:114127511:A:CF781L1.000
10:114127511:A:TF781L1.000
10:114127513:A:GF781L1.000
10:114127551:A:GL768P1.000
10:114125219:A:GL874P0.999
10:114125905:A:GL865P0.999
10:114125932:A:GL856S0.999
10:114125956:A:GL848P0.999
10:114127488:A:GL789P0.999
10:114127500:T:GH785P0.999
10:114127512:A:CF781C0.999
10:114127512:A:GF781S0.999
10:114127533:C:GR774P0.999
10:114127537:C:GA773P0.999
10:114127572:A:GL761S0.999
10:114132056:A:GL595P0.999
10:114132077:A:GL588P0.999
10:114125189:A:GL884P0.998
10:114125898:A:CN867K0.998
10:114125898:A:TN867K0.998
10:114125902:T:AK866I0.998
10:114125914:T:GD862A0.998
10:114125915:C:GD862H0.998
10:114125923:A:TV859D0.998
10:114127467:T:AK796I0.998
10:114127501:G:CH785D0.998
10:114127543:C:GA771P0.998
10:114127547:T:AQ769H0.998
10:114127547:T:GQ769H0.998

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):

HPOTerm
HP:0000252Microcephaly

GWAS associations

1 associations (top):

StudyTraitp-value
GCST009391_455Metabolite levels9.000000e-06

EFO canonical traits (1, from GWAS)

EFO IDTrait name
EFO:0010521phosphocreatine measurement

MeSH disease descriptors (3)

DescriptorNameTree numbers
D007037HypothyroidismC19.874.482
D008831MicrocephalyC05.660.207.620; C10.500.507.400.500; C16.131.621.207.620; C16.131.666.507.400.500
D011666Pulmonary Valve StenosisC14.280.484.716; 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.

ChemicalActions (top 5)PubMed papers
Formaldehydedecreases expression, increases expression2
Cyclosporineincreases expression2
GSK-J4increases expression1
FR900359increases phosphorylation1
geldanamycinincreases expression1
triphenyl phosphateaffects expression1
trichostatin Adecreases expression1
methylparabenincreases expression1
tris(1,3-dichloro-2-propyl)phosphateincreases expression1
sodium arseniteincreases expression1
di-n-butylphosphoric acidaffects expression1
perfluorooctane sulfonic aciddecreases expression1
2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amideincreases expression1
jinfukangdecreases expression1
Bortezomibincreases expression1
Resveratrolaffects cotreatment, increases expression1
Vorinostatdecreases expression1
Leflunomideincreases expression1
Benzo(a)pyrenedecreases methylation1
Ethyl Methanesulfonateincreases expression1
Fluorouracilincreases expression1
Methyl Methanesulfonateincreases expression1
Plant Extractsincreases expression, affects cotreatment1
Testosteronedecreases expression1
Thimerosaldecreases expression1
Thiramincreases expression1
Tobacco Smoke Pollutionincreases expression1
Tretinoindecreases expression1
Urethaneincreases expression1
Vincristinedecreases expression1

Clinical trials (associated diseases)

163 trials via MONDO — disease-level, not drug-specific.

TrialPhaseStatusTitle
NCT00001730PHASE4COMPLETEDStudy of Radioiodine (131-I) Uptake Following Administration of Thyrogen and Hypothyroid States During Thyroid Hormone Withdrawal.
NCT00111735PHASE4UNKNOWNThyroxine Titration Study
NCT00206375PHASE4TERMINATEDGrowth Hormone and GnRH Agonist in Adolescents With Acquired Hypothyroidism
NCT00565864PHASE4COMPLETEDNeurocognitive and Metabolic Effects of Mild Hypothyroidism
NCT01379170PHASE4UNKNOWNThyroid Study Type 2 Diabetes Mellitus (T2DM)
NCT01536678PHASE4COMPLETEDBioequivalence of Two Levothyroxine Tablet Formulations in Healthy Indian Volunteers
NCT01647750PHASE4COMPLETEDStudy of Optimal Replacement of Thyroxine in the Elderly
NCT01769157PHASE4COMPLETEDEffects of L-carnitine on Hypothyroidism
NCT01831869PHASE4UNKNOWNEffect of L-Thyroxine on Lipid Profiles and Atherosclerosis in Subclinical Hypothyroidism
NCT01848171PHASE4UNKNOWNEffects of L-thyroxine Replacement on Serum Lipid and Atherosclerosis in Hypothyroidism
NCT01921452PHASE4COMPLETEDStudy to Verify Clinical Utility of Point-of-Care (POC) Thyroid Stimulating Hormone (TSH) Test Kits as Compared to Third Generation TSH Test Kit
NCT02280330PHASE4COMPLETEDIodine Status of Preschoolers Given Micronutrient Powder for 6 Months
NCT02512978PHASE4UNKNOWNThyroid Hormone Replacement for Hypothyroidism and Acute Myocardial Infarction(ThyroHeart-AMI)
NCT02577367PHASE4WITHDRAWNMean Percentage of Levothyroxine Dosage Increase in Patients With Hypothyroidism Started on Enteral Feeding
NCT02917863PHASE4UNKNOWNRandomized 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
NCT03342001PHASE4COMPLETEDHypothyroidism Treated With Calcitonin
NCT03631771PHASE4WITHDRAWNPediatric Risk of Hypothyroidism With Iodinated Contrast Media
NCT03779906PHASE4TERMINATEDThyroid Function of Pediatric Subjects Following Isovue® Administration
NCT04747275PHASE4TERMINATEDUse of Liquid Stable Levothyroxine in Trisomy 21 Pediatric Patients
NCT04878614PHASE4TERMINATEDComparison of Levothyroxine Formulation in Hypothyroid Patients With Enteral Feeding
NCT05247476PHASE4UNKNOWNType 2 Deiodinase Gene Polymorphism and the Treatment of Hypothyroidism Caused by Thyroidectomy in Thyroid Cancer Patients.
NCT06073665PHASE4RECRUITINGDosing of LT4 in Older Individuals
NCT06096454PHASE4UNKNOWNEffect of Life Style Modification and Metformin on Hypothyroidism With Insulin Resistance
NCT01204359PHASE3UNKNOWNThe Prospective Study of Standard Treatment of Graves Disease Iodine 131 and Prevention of Adverse Reactions
NCT01800617PHASE2COMPLETEDA Study of T3 Therapy in Patients With Hypothyroidism
NCT01916304PHASE2COMPLETEDStudy of Dose Adjustment From Levothyroxine to a New Levothyroxine Sodium Test Formulation
NCT03627611PHASE2COMPLETEDIdentification of Non-responders to Levothyroxine Therapy
NCT04124705PHASE2COMPLETEDA Study of Armour® Thyroid Compared to Synthetic T4 (Levothyroxine) in Previously Hypothyroid Participants
NCT04782856PHASE2COMPLETEDEnergy Metabolism in Thyroidectomized Patients
NCT05412979PHASE2COMPLETEDA Study Evaluating the Safety and Efficacy of Hormone Replacement Therapy With ST-1891 Compared to Levothyroxine in Patients With Primary Hypothyroidism
NCT05712421PHASE2COMPLETEDA Study Evaluation the Safety and Efficacy of Hormone Replacement Therapy With North Star Compared to Levothyroxine in Patients With Primary Hypothyroidism
NCT05733078PHASE2UNKNOWNEffect of Vitamin C Supplementation in Patients With Primary Hypothyroidism
NCT05804149PHASE2COMPLETEDEffect of Acupuncture and Low Caloric Diet on Primary Hypothyroidism and Irregular Menstruation in Infertile Women
NCT05823012PHASE2COMPLETEDStudy of XP-8121 For the Treatment of Adult Subjects With Hypothyroidism
NCT05518188PHASE1/PHASE2RECRUITINGMelpida: Recombinant Adeno-associated Virus (serotype 9) Encoding a Codon Optimized Human AP4M1 Transgene (hAP4M1opt)
NCT00001639Not specifiedCOMPLETEDEvaluation of Patients With Unresolved Chromosome Abnormalities
NCT01151462Not specifiedWITHDRAWNPostnatal HCMV Infection in Very Preterm Infants. Implications, Morbidity, Growth and Neurodevelopmental Outcomes.
NCT01565005Not specifiedCOMPLETEDMicrocephaly Genetic Deficiency in Neural Progenitors
NCT02510170Not specifiedCOMPLETEDFetal and Maternal Head Circumference During Pregnancy in Israeli Population
NCT02741882Not specifiedCOMPLETEDZika and Microcephaly: Case-control Study
  • 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