CCDC141

Summary

CCDC141 (coiled-coil domain containing 141, HGNC:26821) is a protein-coding gene on chromosome 2q31.2, encoding Coiled-coil domain-containing protein 141 (Q6ZP82). Plays a critical role in cortical radial and GnRH neurons migration during brain development. It is a selective cancer dependency (DepMap: 44.4% of cell lines).

Predicted to be involved in brain development. Predicted to act upstream of or within centrosome localization and cerebral cortex radially oriented cell migration. Predicted to be located in centrosome and cytoplasm.

Source: NCBI Gene 285025 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Kallmann syndrome (Supportive, GenCC) — +1 more curated relationship
• GWAS associations: 36
• Clinical variants (ClinVar): 526 total — 2 pathogenic
• Phenotypes (HPO): 50
• Cancer dependency (DepMap): dependent in 44.4% of screened cell lines
• MANE Select transcript: NM_173648

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26821
Approved symbol	CCDC141
Name	coiled-coil domain containing 141
Location	2q31.2
Locus type	gene with protein product
Status	Approved
Aliases	FLJ39502, CAMDI
Ensembl gene	ENSG00000163492
Ensembl biotype	protein_coding
OMIM	616031
Entrez	285025

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 6 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000343876, ENST00000409284, ENST00000443758, ENST00000446116, ENST00000472828, ENST00000498142, ENST00000894515, ENST00000922698

RefSeq mRNA: 2 — MANE Select: NM_173648 NM_001316745, NM_173648

CCDS: CCDS82538

Canonical transcript exons

ENST00000443758 — 24 exons

Exon	Start	End
ENSE00001577983	178944535	178944651
ENSE00001579354	178888527	178888668
ENSE00001579686	178978484	178978675
ENSE00001579941	178961230	178961483
ENSE00001580830	178905329	178905501
ENSE00001583588	178975057	178975165
ENSE00001585386	179047284	179047406
ENSE00001588127	178884901	178885092
ENSE00001588780	178886752	178886871
ENSE00001637073	178853441	178853624
ENSE00001667176	179049840	179050137
ENSE00001677384	178869117	178869305
ENSE00001694760	178871427	178871552
ENSE00001700324	178868026	178868205
ENSE00001716502	178855347	178855541
ENSE00001795888	178850049	178850161
ENSE00001804520	178865767	178865916
ENSE00001859116	178829757	178834440
ENSE00003477379	178877964	178878143
ENSE00003577683	178836894	178837744
ENSE00003667065	178845626	178845742
ENSE00003678185	178918713	178918907
ENSE00003785885	178856257	178856397
ENSE00003787053	178872133	178872312

Expression profiles

Bgee: expression breadth ubiquitous, 149 present calls, max score 86.47.

FANTOM5 (CAGE): breadth broad, TPM avg 3.2596 / max 285.5531, expressed in 349 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
32665	2.7966	318
32664	0.3699	71
32663	0.0931	54

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
heart left ventricle	UBERON:0002084	86.47	gold quality
adrenal tissue	UBERON:0018303	86.33	gold quality
right atrium auricular region	UBERON:0006631	85.97	gold quality
cardiac ventricle	UBERON:0002082	85.00	gold quality
cardiac atrium	UBERON:0002081	84.96	gold quality
apex of heart	UBERON:0002098	82.40	gold quality
heart	UBERON:0000948	81.77	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	81.74	gold quality
calcaneal tendon	UBERON:0003701	81.66	gold quality
hindlimb stylopod muscle	UBERON:0004252	80.91	gold quality
sural nerve	UBERON:0015488	79.27	gold quality
muscle of leg	UBERON:0001383	73.28	gold quality
colonic epithelium	UBERON:0000397	73.25	gold quality
gastrocnemius	UBERON:0001388	71.52	gold quality
bone marrow cell	CL:0002092	69.46	silver quality
buccal mucosa cell	CL:0002336	69.29	silver quality
lower lobe of lung	UBERON:0008949	68.08	gold quality
gall bladder	UBERON:0002110	67.53	gold quality
body of pancreas	UBERON:0001150	66.88	gold quality
tendon	UBERON:0000043	66.07	gold quality
pancreas	UBERON:0001264	66.06	gold quality
islet of Langerhans	UBERON:0000006	63.19	gold quality
lung	UBERON:0002048	62.81	gold quality
secondary oocyte	CL:0000655	62.22	gold quality
tonsil	UBERON:0002372	62.20	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	61.23	gold quality
right coronary artery	UBERON:0001625	60.92	gold quality
lymph node	UBERON:0000029	60.74	gold quality
ganglionic eminence	UBERON:0004023	60.47	gold quality
upper lobe of lung	UBERON:0008948	58.81	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	20.74
E-CURD-97	no	517.78

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

186 targeting CCDC141, 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-3613-3P	100.00	76.36	7965
HSA-MIR-574-5P	100.00	66.01	989
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-4776-3P	100.00	68.73	1340
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-5696	99.98	72.36	4487
HSA-LET-7A-5P	99.98	72.29	1790
HSA-LET-7B-5P	99.98	72.31	1790
HSA-LET-7C-5P	99.98	72.29	1790
HSA-LET-7E-5P	99.98	72.29	1790
HSA-LET-7F-5P	99.98	72.56	1784
HSA-LET-7G-5P	99.98	72.37	1784
HSA-LET-7I-5P	99.98	72.37	1788
HSA-MIR-98-5P	99.98	72.33	1787
HSA-MIR-3617-3P	99.98	67.86	918
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-570-3P	99.96	72.41	4910

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 44.4% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 4)

• CAMDI is required for radial migration probably through DISC1 and myosin II-mediated centrosome positioning during neuronal development. (PMID:20956536)
• report of a CCDC141 mutation as a new example of genetic aberration associated with Kallmann Syndrome (PMID:27014940)
• These studies confirm that inactivating CCDC141 variants cause normosmic idiopathic hypogonadotropic hypogonadism but not Kallmann syndrome . (PMID:28324054)
• Genotypic and phenotypic spectrum of CCDC141 variants in a Chinese cohort with congenital hypogonadotropic hypogonadism. (PMID:32520725)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
mus_musculus	Ccdc141	ENSMUSG00000044033
rattus_norvegicus	Ccdc141	ENSRNOG00000012580
caenorhabditis_elegans		WBGENE00011880

Paralogs (9): SPEG (ENSG00000072195), MYOT (ENSG00000120729), PALLD (ENSG00000129116), ALPK3 (ENSG00000136383), MYPN (ENSG00000138347), HMCN1 (ENSG00000143341), OBSCN (ENSG00000154358), IGFN1 (ENSG00000163395), SPEGNB (ENSG00000286095)

Protein

Protein identifiers

Coiled-coil domain-containing protein 141 — Q6ZP82 (reviewed: Q6ZP82)

Alternative names: Coiled-coil protein associated with myosin II and DISC1

All UniProt accessions (4): A0A0A6YYF7, B8ZZB3, C9JR62, Q6ZP82

UniProt curated annotations — full annotation on UniProt →

Function. Plays a critical role in cortical radial and GnRH neurons migration during brain development. Regulates cortical radial migration by negatively controlling the activity of histone deacetylase 6 (HDAC6) and promotes centrosome maturation. CAMDI is required for dilation formation of cortical neurons during radial migration. Plays a critical role in learning and memory performance through regulation of AMPA-selective glutamate receptors (AMPARs) cell surface expression in competition with KIBRA.

Subunit / interactions. Interacts with DISC1. Interacts preferentially with phosphorylated forms of myosin regulatory light chain (MRLC). Interacts (via the N-terminal region) with HDAC6; inhibits the deacetylase activity of HDAC6. Interacts with KIBRA (via the C-terminal region); retains AMPAR in the cytosol after internalization.

Subcellular location. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome.

Post-translational modifications. Ubiquitinated and degradated by the CDC20-APC/C pathway. During brain development, CDC20-APC/C complex degrades CCDC141 after centrosome translocation into the dilated area. CCDC141 is restabilized in the dilation until the centrosome enters the dilation, at which point it is once again immediately destabilized by CDC20-APC/C complex. The oscillatory regulation of CCDC141 protein is needed for proper cortical migration. Phosphorylation at Thr-91 by PLK1 affects CCDC141 degradation.

Isoforms (2)

UniProt ID	Names	Canonical?
Q6ZP82-2	2	yes
Q6ZP82-1	1

RefSeq proteins (2): NP_001303674, NP_775919* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002017	Spectrin_repeat	Repeat
IPR003598	Ig_sub2	Domain
IPR003599	Ig_sub	Domain
IPR007110	Ig-like_dom	Domain
IPR013098	Ig_I-set	Domain
IPR013783	Ig-like_fold	Homologous_superfamily
IPR036179	Ig-like_dom_sf	Homologous_superfamily
IPR050876	IgLON_domain	Family

Pfam: PF00435, PF07679

UniProt features (12 total): sequence variant 3, coiled-coil region 3, splice variant 2, chain 1, domain 1, region of interest 1, modified residue 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6ZP82-F1	72.36	0.17

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): 91

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 251 (showing top): GOBP_HETEROPHILIC_CELL_CELL_ADHESION, GOBP_SYNAPSE_ASSEMBLY, GOBP_REGULATION_OF_CELL_JUNCTION_ASSEMBLY, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, ACEVEDO_LIVER_CANCER_WITH_H3K27ME3_UP, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOBP_FOREBRAIN_DEVELOPMENT, GOBP_FOREBRAIN_CELL_MIGRATION, GOBP_CELL_CELL_ADHESION, GOBP_CELL_JUNCTION_ORGANIZATION, MILI_PSEUDOPODIA_HAPTOTAXIS_UP, GOBP_REGULATION_OF_SYNAPSE_ASSEMBLY, GOBP_CEREBRAL_CORTEX_DEVELOPMENT, GOCC_CENTROSOME, GOBP_PALLIUM_DEVELOPMENT

GO Biological Process (3): cerebral cortex radially oriented cell migration (GO:0021799), centrosome localization (GO:0051642), brain development (GO:0007420)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (3): cytoplasm (GO:0005737), centrosome (GO:0005813), cytoskeleton (GO:0005856)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cerebral cortex cell migration	1
microtubule organizing center localization	1
central nervous system development	1
animal organ development	1
head development	1
binding	1
intracellular anatomical structure	1
cellular anatomical structure	1
centriole	1
microtubule organizing center	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

1234 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CCDC141	DISC1	Q9NRI5	802
CCDC141	SLC35F1	Q5T1Q4	574
CCDC141	PROKR2	Q8NFJ6	507
CCDC141	KLHL38	Q2WGJ6	469
CCDC141	SYT10	Q6XYQ8	458
CCDC141	KIAA1755	Q5JYT7	451
CCDC141	IGSF10	Q6WRI0	448
CCDC141	FEZF1	A0PJY2	421
CCDC141	FNDC4	Q9H6D8	402
CCDC141	HS6ST1	O60243	397
CCDC141	CER1	O95813	397
CCDC141	EFCAB11	Q9BUY7	384
CCDC141	TACR3	P29371	383
CCDC141	NSMF	Q6X4W1	380
CCDC141	ANOS1	P23352	376

IntAct

9 interactions, top by confidence:

A	B	Type	Score
USP7	CCDC141	psi-mi:“MI:0407”(direct interaction)	0.440
CCDC141	DHRS2	psi-mi:“MI:0915”(physical association)	0.400
CCDC141	DISC1	psi-mi:“MI:0915”(physical association)	0.370
DISC1	CCDC141	psi-mi:“MI:0915”(physical association)	0.370
CCDC141	C7	psi-mi:“MI:0914”(association)	0.350
CCDC141	DISC1	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (12): CCDC141 (Two-hybrid), CCDC141 (Affinity Capture-MS), CCDC141 (Affinity Capture-MS), CCDC141 (Two-hybrid), CCDC141 (Two-hybrid), CCDC141 (Proximity Label-MS), CCDC141 (Two-hybrid), EFHD1 (Affinity Capture-MS), C7 (Affinity Capture-MS), CCDC141 (Negative Genetic), CCDC141 (Protein-peptide), EEA1 (Cross-Linking-MS (XL-MS))

ESM2 similar proteins: A0A8M2BID5, A2CG49, D3ZEY0, D3ZHV2, E9Q557, E9Q8Q6, F1LMV6, F1M0Z1, G3V7L1, O15068, O60229, O60437, O75962, O97592, P02549, P10911, P11277, P11530, P11531, P11532, P11533, P15508, P15924, P30427, P46939, P97924, Q03001, Q0KL02, Q15149, Q1LUA6, Q4FZC9, Q5GN48, Q63406, Q64096, Q6ZMZ3, Q6ZP82, Q6ZWQ0, Q6ZWR6, Q86YR7, Q8NF91

Diamond homologs: A2CG49, A5PKD8, B0BNK7, D2HFT7, D3YYU8, D3ZZ80, D4ABX8, O75147, P0C5J5, P97603, P97798, P97924, Q05623, Q06561, Q08E66, Q16270, Q1RMS4, Q3URE9, Q460M5, Q5MD89, Q5VST9, Q61581, Q6PJG9, Q6ZP82, Q7L985, Q7TQN3, Q80TG9, Q80W15, Q80XU8, Q86TB3, Q8BLY3, Q8NFZ8, Q8R0S6, Q8WX77, Q90610, Q92626, Q92859, Q96NZ8, Q9BTN0, A2AAJ9

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

526 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	0
Uncertain significance	324
Likely benign	95
Benign	84

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
4820172	NC_000002.11:g.179443041_179790231delinsAGCA	Pathogenic
58772	GRCh38/hg38 2q31.2-32.1(chr2:178880151-185352829)x1	Pathogenic

SpliceAI

4428 predictions. Top by Δscore:

Variant	Effect	Δscore
2:178837742:CCCCT:C	acceptor_gain	1.0000
2:178837744:CCT:C	acceptor_gain	1.0000
2:178837746:T:C	acceptor_gain	1.0000
2:178850044:ATTAC:A	donor_loss	1.0000
2:178850045:TTACC:T	donor_loss	1.0000
2:178850046:TACC:T	donor_loss	1.0000
2:178850047:ACC:A	donor_loss	1.0000
2:178850158:AAACC:A	acceptor_loss	1.0000
2:178850159:AACCT:A	acceptor_loss	1.0000
2:178850160:ACCT:A	acceptor_loss	1.0000
2:178850162:C:CC	acceptor_gain	1.0000
2:178850163:T:G	acceptor_loss	1.0000
2:178855345:A:AG	donor_loss	1.0000
2:178855346:C:CA	donor_loss	1.0000
2:178855346:CCT:C	donor_gain	1.0000
2:178855348:T:TA	donor_gain	1.0000
2:178855360:T:TA	donor_gain	1.0000
2:178855478:T:C	acceptor_gain	1.0000
2:178855487:T:C	acceptor_gain	1.0000
2:178855487:T:TC	acceptor_gain	1.0000
2:178856248:T:A	donor_gain	1.0000
2:178856254:TAC:T	donor_loss	1.0000
2:178856255:ACCTG:A	donor_loss	1.0000
2:178865762:CCCA:C	donor_loss	1.0000
2:178865763:CCAC:C	donor_loss	1.0000
2:178865764:CA:C	donor_loss	1.0000
2:178865765:A:C	donor_loss	1.0000
2:178865775:T:C	donor_gain	1.0000
2:178865912:CAGTG:C	acceptor_gain	1.0000
2:178865913:AGTG:A	acceptor_gain	1.0000

AlphaMissense

10166 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000004807 (2:178980798 T>A,C), RS1000009157 (2:179036374 T>C), RS1000018461 (2:178855071 G>A,T), RS1000035214 (2:178816564 T>G), RS1000046366 (2:178946028 C>T), RS1000049410 (2:178859626 G>C), RS1000070942 (2:178901598 G>A), RS1000099664 (2:178994035 G>A), RS1000100175 (2:179022827 G>A), RS1000115764 (2:178988214 C>G,T), RS1000119927 (2:178938939 G>A), RS1000120863 (2:178858014 A>G), RS1000133453 (2:178947197 G>A,C), RS1000165535 (2:179010228 G>T), RS1000173376 (2:179012898 C>A,T)

Disease associations

OMIM: gene MIM:616031 | disease phenotypes: MIM:146110, MIM:147950, MIM:604145

GenCC curated gene-disease

Disease	Classification	Inheritance
Kallmann syndrome	Supportive	Autosomal dominant
hypogonadotropic hypogonadism	Limited	Autosomal dominant

Mondo (5): hypogonadotropic hypogonadism 7 with or without anosmia (MONDO:0007794), disorder of sexual differentiation (MONDO:0002145), hypogonadotropic hypogonadism (MONDO:0018555), dilated cardiomyopathy 1G (MONDO:0011400), Kallmann syndrome (MONDO:0018800)

Orphanet (3): Normosmic congenital hypogonadotropic hypogonadism (Orphanet:432), Difference of sex development (Orphanet:90771), Familial isolated dilated cardiomyopathy (Orphanet:154)

HPO phenotypes

50 total (30 of 50 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000008	Abnormal morphology of female internal genitalia
HP:0000028	Cryptorchidism
HP:0000044	Hypogonadotropic hypogonadism
HP:0000054	Micropenis
HP:0000104	Renal agenesis
HP:0000144	Decreased fertility
HP:0000175	Cleft palate
HP:0000407	Sensorineural hearing impairment
HP:0000458	Anosmia
HP:0000505	Visual impairment
HP:0000508	Ptosis
HP:0000551	Color vision defect
HP:0000639	Nystagmus
HP:0000771	Gynecomastia
HP:0000786	Primary amenorrhea
HP:0000789	Infertility
HP:0000823	Delayed puberty
HP:0000830	Anterior hypopituitarism
HP:0001250	Seizure
HP:0001251	Ataxia
HP:0001252	Hypotonia
HP:0001260	Dysarthria
HP:0001288	Gait disturbance
HP:0001324	Muscle weakness
HP:0001335	Bimanual synkinesia
HP:0001337	Tremor
HP:0001513	Obesity
HP:0001608	Abnormality of the voice
HP:0001761	Pes cavus

GWAS associations

36 associations (top):

Study	Trait	p-value
GCST001969_13	Heart rate	4.000000e-26
GCST002247_5	Blood pressure measurement (cold pressor test)	2.000000e-07
GCST002500_17	QT interval	7.000000e-09
GCST003159_2	Objective response to lithium treatment	3.000000e-08
GCST003818_27	Resting heart rate	8.000000e-75
GCST004280_82	Diastolic blood pressure	2.000000e-10
GCST004680_1	Psychosis proneness (revised physical anhedonia scale)	2.000000e-06
GCST004681_2	Psychosis proneness (hypomanic personality scale and revised physical anhedonia scale)	4.000000e-06
GCST005787_5	Heart rate response to exercise	3.000000e-09
GCST005789_1	Resting heart rate	5.000000e-15
GCST005846_3	Heart rate response to recovery post exercise (10 sec)	2.000000e-09
GCST005846_4	Heart rate response to recovery post exercise (10 sec)	7.000000e-13
GCST005847_4	Heart rate response to recovery post exercise (20 sec)	1.000000e-09
GCST006411_4	Mucinous adenocarcinoma in colorectal cancer	8.000000e-06
GCST006411_5	Mucinous adenocarcinoma in colorectal cancer	8.000000e-06
GCST006765_1	Number of live births	3.000000e-09
GCST006771_1	Number of pregnancies	2.000000e-08
GCST007094_108	Diastolic blood pressure	2.000000e-07
GCST007098_47	Diastolic blood pressure	1.000000e-08
GCST007098_48	Diastolic blood pressure	1.000000e-06
GCST007103_5	QRS duration	3.000000e-11
GCST007104_5	QRS duration	6.000000e-16
GCST007268_6	Diastolic blood pressure	2.000000e-13
GCST007269_77	Pulse pressure	1.000000e-08
GCST007481_1	Heart rate	3.000000e-10
GCST007604_1	Smoking cessation	1.000000e-08
GCST010312_7	Serum polyunsaturated fatty acid concentration x Mediterranean diet adherence interaction in metabolic syndrome	4.000000e-06
GCST010321_108	PR interval	8.000000e-28
GCST010796_1143	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-35
GCST010796_1144	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-36

EFO canonical traits (18, from GWAS)

EFO ID	Trait name
EFO:0005404	response to cold pressor test
EFO:0006335	systolic blood pressure
EFO:0004682	QT interval
EFO:0006336	diastolic blood pressure
EFO:0008337	psychosis predisposition measurement
EFO:0009184	heart rate response to exercise
EFO:0009185	heart rate response to recovery post exercise
EFO:0009361	colorectal mucinous adenocarcinoma
EFO:0009438	number of pregnancies measurement
EFO:0005763	pulse pressure measurement
EFO:0004319	smoking cessation
EFO:0008111	diet measurement
EFO:0010119	omega-3 polyunsaturated fatty acid measurement
EFO:0004462	PR interval
EFO:0004327	electrocardiography
EFO:0008206	left ventricular systolic function measurement
EFO:0009289	left ventricular mass
EFO:0008373	left ventricular ejection fraction measurement

MeSH disease descriptors (4)

Descriptor	Name	Tree numbers
D012734	Disorders of Sex Development	C12.050.351.875.253; C12.200.706.316; C12.800.316; C16.131.939.316; C19.391.119
D017436	Kallmann Syndrome	C12.050.351.875.253.096.750; C12.200.706.316.096.750; C12.800.316.096.750; C16.131.939.316.096.750; C16.320.467; C19.391.119.096.750; C19.391.482.600
C565824	Cardiomyopathy, Dilated, 1g (supp.)
C562785	Idiopathic Hypogonadotropic Hypogonadism (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

18 total (human), top 18 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	decreases expression, increases methylation	2
methyleugenol	decreases expression	1
bisphenol A	decreases expression	1
ethyl-p-hydroxybenzoate	increases expression	1
sodium arsenite	increases expression	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression, affects cotreatment	1
incobotulinumtoxinA	decreases expression	1
NSC 689534	affects binding, decreases expression	1
Acetaminophen	increases expression	1
Copper	affects binding, decreases expression	1
Doxorubicin	decreases expression	1
Lipopolysaccharides	affects response to substance, increases expression, affects cotreatment	1
N-Nitrosopyrrolidine	decreases expression	1
Dihydrotestosterone	increases expression	1
Triclosan	decreases expression	1
Aflatoxin B1	decreases methylation	1
Aflatoxin M1	decreases expression	1
Asbestos, Serpentine	decreases methylation	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00328926	PHASE4	TERMINATED	Luveris® (Lutropin Alfa for Injection) in Women With Hypogonadotropic Hypogonadism (Luteinizing Hormone [LH] Less Than [<] 1.2 International Unit Per Liter [IU/L])
NCT01403532	PHASE4	COMPLETED	Sequential Therapy for Hypogonadotropic Hypogonadism
NCT01454011	PHASE4	COMPLETED	The Effect of Testosterone Replacement on the High Density Lipoprotein Cholesterol Subgroups
NCT01601327	PHASE4	COMPLETED	Effects of Medications in Patients With Hypogonadism
NCT02310074	PHASE4	UNKNOWN	Efficacy and Safety of Pulsatile Gonadotropin Releasing Hormone Pump Treatment in Patients With Idiopathic Hypogonadotropic Hypogonadism
NCT02880280	PHASE4	UNKNOWN	Human Menopausal Gonadotropin Combining With Human Chorionic Gonadotropin Treat Congenital Hypogonadotropic Hypogonadism
NCT03490513	PHASE4	COMPLETED	Aromatase Inhibitors and Weight Loss in Severely Obese Men With Hypogonadism
NCT04456296	PHASE4	COMPLETED	A Study of the Effect of Testosterone Replacement Therapy on Blood Pressure in Adult Male Participants With Hypogonadism
NCT05205837	PHASE4	TERMINATED	A Randomized, Double-blinded, Clinical, Placebo-controlled Trial on the Effects of Therapy With Letrozole and hUman Choriongonadotropin in Male Hypogonadism Induced by Illicit Use of Anabolic Androgenic Steroids- The LUCAS Trial
NCT03687606	PHASE4	UNKNOWN	Efficacy and Safety of Long Term Use of hCG or hCG Plus hMG in Males With Isolated Hypogonadotropic Hypogonadism (IHH)
NCT00467870	PHASE3	COMPLETED	Long-term Safety Study of Intramuscular Injections of 750 mg and 1000 mg Testosterone Undecanoate in Hypogonadal Men
NCT00962637	PHASE3	COMPLETED	Study to Evaluate the Safety and Efficacy of Androxal™ Treatment in Men With Secondary Hypogonadism
NCT01067365	PHASE3	COMPLETED	Study to Evaluate the Safety and Efficacy of Androxal Treatment in Men With Secondary Hypogonadism
NCT01532414	PHASE3	COMPLETED	Phase III Study to Evaluated Morning Testosterone Normalization in Men With Secondary Hypogonadism
NCT01534208	PHASE3	COMPLETED	Safety Study of Enclomiphene Citrate in the Treatment of Men With Secondary Hypogonadism
NCT01709331	PHASE3	COMPLETED	A Study of the Efficacy and Safety of Corifollitropin Alfa (MK-8962) in Combination With Human Chorionic Gonadotropin (hCG) in Adult Men With Hypogonadotropic Hypogonadism (HH) (P07937)
NCT01739582	PHASE3	COMPLETED	An Extension Study of Enclomiphene Citrate in the Treatment of Men With Secondary Hypogonadism
NCT01739595	PHASE3	COMPLETED	Phase III Study to Evaluate Morning Testosterone Normalization in Overweight Men With Secondary Hypogonadism
NCT01993212	PHASE3	COMPLETED	A Randomized, Double Blind, Placebo-Controlled, Multi-Center Phase III Study in Men With Acquired Hypogonadotropic Hypogonadism to Compare Changes in Testosterone and Sperm Concentration Following Treatment With 12.5 mg or 25 mg Androxal or AndroGel 1.62%
NCT01993225	PHASE3	COMPLETED	A Randomized, Double Blind, Placebo-Controlled, Multi-Center Phase III Study in Men With Acquired Hypogonadotropic Hypogonadism to Compare Changes in Testosterone and Sperm Concentration Following Treatment With 12.5 mg or 25 mg Androxal or AndroGel 1.62%
NCT02110368	PHASE3	COMPLETED	Bioequivalence Study of Test and Reference Testosterone Topical Gel, 1.62% Metered Pump in Testosterone Deficient Adult Male Subjects Under Fasting Conditions
NCT03019575	PHASE3	COMPLETED	Efficacy and Safety of Corifollitropin Alfa (MK-8962) in Combination With Human Chorionic Gonadotropin (hCG) in Adolescent Males With Hypogonadotropic Hypogonadism (HH) (MK-8962-043)
NCT06561594	PHASE3	NOT_YET_RECRUITING	To Evaluate Recombinant Human Follicle Stimulating Hormone-CTP Fusion Protein Injection or Placebo Combined With Chorionic Gonadotropin for Injection
NCT00193661	PHASE2	COMPLETED	Observation Study of T-Gel (1%) in Treatment of Adolescent Boys With Hypogonadism
NCT00383656	PHASE2	UNKNOWN	Pulsatile GnRH in Anovulatory Infertility
NCT00697814	PHASE2	COMPLETED	Clomiphene in Males With Prolactinomas and Persistent Hypogonadism
NCT00706719	PHASE2	COMPLETED	To Evaluate Sperm Parameters in Men With Secondary Hypogonadism Previously Treated With Topical Testosterone
NCT00911586	PHASE2	COMPLETED	Pharmacokinetic Study to Determine Time to Steady-state
NCT01155518	PHASE2	TERMINATED	Hypogonadism in Young Men With Type 2 Diabetes
NCT01191320	PHASE2	COMPLETED	Study to Evaluate the Efficacy of Androxal in Controlling Blood Glucose in Men With Type-2 Diabetes Mellitus
NCT01270841	PHASE2	COMPLETED	Normalization of Morning Testosterone Levels in Men With Secondary Hypogonadism
NCT01386606	PHASE2	COMPLETED	The Effect on Androxal Versus Androgel on Morning Testosterone in Men With Secondary Hypogonadism (Low Testosterone)
NCT01894308	PHASE2	NOT_YET_RECRUITING	A Dose Ranging Study to Examine TDS-Testosterone 5%
NCT02369796	PHASE2	TERMINATED	A Phase 2a Pharmacodynamic Study of TAK-448 in Participants With Hypogonadotropic Hypogonadism
NCT02443090	PHASE2	UNKNOWN	Safety and Efficacy Study of Oral Fispemifene for the Treatment of Sexual Dysfunction in Hypogonadal Men
NCT02651688	PHASE2	COMPLETED	A Multi-Center Study in Men With Acquired Hypogonadotropic Hypogonadism to Compare Changes in Body Composition and Metabolic Parameters With Diet and Exercise in Conjunction With Treatment With 12.5 mg or 25 mg Enclomiphene
NCT02730169	PHASE2	COMPLETED	Safety and Efficacy of BGS649 in Male Obese Subjects With Hypogonadotropic Hypogonadism
NCT02733133	PHASE2	NOT_YET_RECRUITING	Product Transference Study of Testagen™ TDS®-Testosterone
NCT02908074	PHASE2	COMPLETED	A 6 Month Safety Extension Study of MBGS205
NCT03245827	PHASE2	TERMINATED	Hypogonadotropic Hypogonadism in Obese Young Males