CLTC

Summary

CLTC (clathrin heavy chain, HGNC:2092) is a protein-coding gene on chromosome 17q23.1, encoding Clathrin heavy chain 1 (Q00610). Clathrin is the major protein of the polyhedral coat of coated pits and vesicles. It is a common-essential gene (DepMap: required in 99.2% of cancer cell lines) and haploinsufficient (ClinGen: sufficient evidence).

Clathrin is a major protein component of the cytoplasmic face of intracellular organelles, called coated vesicles and coated pits. These specialized organelles are involved in the intracellular trafficking of receptors and endocytosis of a variety of macromolecules. The basic subunit of the clathrin coat is composed of three heavy chains and three light chains.

Source: NCBI Gene 1213 — RefSeq curated summary.

At a glance

• Gene–disease (curated): intellectual disability, autosomal dominant 56 (Strong, GenCC) — +2 more curated relationships
• Clinical variants (ClinVar): 1,231 total — 67 pathogenic, 58 likely-pathogenic
• Phenotypes (HPO): 79
• Druggable target: yes
• Cancer driver (intOGen): activating (oncogene-like) across 5 cancer types
• Cancer dependency (DepMap): dependent in 99.2% of screened cell lines (common-essential)
• Dosage sensitivity (ClinGen): haploinsufficiency sufficient evidence, triplosensitivity no evidence
• MANE Select transcript: NM_004859

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:2092
Approved symbol	CLTC
Name	clathrin heavy chain
Location	17q23.1
Locus type	gene with protein product
Status	Approved
Aliases	Hc
Ensembl gene	ENSG00000141367
Ensembl biotype	protein_coding
OMIM	118955
Entrez	1213

Gene structure

Transcript identifiers

Ensembl transcripts: 35 — 25 protein_coding, 5 retained_intron, 4 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000269122, ENST00000393043, ENST00000466513, ENST00000472129, ENST00000472651, ENST00000475458, ENST00000483176, ENST00000496076, ENST00000498711, ENST00000579456, ENST00000579815, ENST00000580081, ENST00000584313, ENST00000585198, ENST00000700707, ENST00000700708, ENST00000700709, ENST00000700710, ENST00000700711, ENST00000700712, ENST00000700713, ENST00000700714, ENST00000700715, ENST00000714180, ENST00000714181, ENST00000714182, ENST00000714241, ENST00000714242, ENST00000714243, ENST00000891780, ENST00000891781, ENST00000891782, ENST00000935242, ENST00000935243, ENST00000935244

RefSeq mRNA: 2 — MANE Select: NM_004859 NM_001288653, NM_004859

CCDS: CCDS32696, CCDS74115

Canonical transcript exons

ENST00000269122 — 32 exons

Exon	Start	End
ENSE00000948100	59647398	59647666
ENSE00000948103	59655854	59656027
ENSE00000948106	59663842	59663994
ENSE00000948107	59664787	59664909
ENSE00000948110	59666797	59666977
ENSE00000948114	59676954	59677188
ENSE00000948117	59681295	59681478
ENSE00000948118	59681647	59681839
ENSE00000948119	59682271	59682428
ENSE00000948120	59682629	59682793
ENSE00000948121	59682907	59683014
ENSE00000948122	59683095	59683262
ENSE00000948123	59683387	59683536
ENSE00000948124	59683625	59683756
ENSE00000948125	59683875	59683985
ENSE00001159098	59679397	59679519
ENSE00001605197	59680912	59681057
ENSE00001689879	59673647	59673772
ENSE00002214061	59668777	59668940
ENSE00002460256	59644276	59644483
ENSE00002813683	59685587	59685808
ENSE00002922394	59685056	59685226
ENSE00002949725	59690636	59690711
ENSE00003459447	59661443	59661643
ENSE00003574074	59674701	59674843
ENSE00003593471	59666480	59666644
ENSE00003609165	59648240	59648401
ENSE00003611615	59651203	59651316
ENSE00003686268	59666103	59666240
ENSE00003980608	59693728	59696956
ENSE00004021611	59619895	59620173
ENSE00004023301	59660391	59660588

Expression profiles

Bgee: expression breadth ubiquitous, 305 present calls, max score 99.68.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 241.8927 / max 1315.2092, expressed in 1829 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
161963	228.0489	1829
161962	11.4852	1737
208286	0.7384	420
161970	0.6973	328
161969	0.4665	225
161965	0.4565	227

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
pons	UBERON:0000988	99.68	gold quality
lateral nuclear group of thalamus	UBERON:0002736	99.67	gold quality
Brodmann (1909) area 46	UBERON:0006483	99.65	gold quality
middle temporal gyrus	UBERON:0002771	99.58	gold quality
mucosa of sigmoid colon	UBERON:0004993	99.57	gold quality
orbitofrontal cortex	UBERON:0004167	99.56	gold quality
postcentral gyrus	UBERON:0002581	99.55	gold quality
corpus epididymis	UBERON:0004359	99.54	gold quality
colonic mucosa	UBERON:0000317	99.52	gold quality
parietal lobe	UBERON:0001872	99.52	gold quality
trabecular bone tissue	UBERON:0002483	99.52	gold quality
substantia nigra pars compacta	UBERON:0001965	99.51	gold quality
visceral pleura	UBERON:0002401	99.43	gold quality
substantia nigra pars reticulata	UBERON:0001966	99.41	gold quality
bronchial epithelial cell	CL:0002328	99.40	gold quality
caput epididymis	UBERON:0004358	99.40	gold quality
cauda epididymis	UBERON:0004360	99.40	gold quality
superior frontal gyrus	UBERON:0002661	99.39	gold quality
superior vestibular nucleus	UBERON:0007227	99.38	gold quality
stromal cell of endometrium	CL:0002255	99.36	gold quality
lateral globus pallidus	UBERON:0002476	99.35	gold quality
entorhinal cortex	UBERON:0002728	99.35	gold quality
pleura	UBERON:0000977	99.34	gold quality
parietal pleura	UBERON:0002400	99.33	gold quality
skin of hip	UBERON:0001554	99.32	gold quality
Brodmann (1909) area 23	UBERON:0013554	99.31	gold quality
upper leg skin	UBERON:0004262	99.30	gold quality
adrenal tissue	UBERON:0018303	99.29	gold quality
nasal cavity epithelium	UBERON:0005384	99.28	gold quality
tibia	UBERON:0000979	99.25	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	16.16

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): TP53

miRNA regulators (miRDB)

167 targeting CLTC, 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-8485	100.00	77.57	4731
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-3692-3P	99.98	70.27	2139
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-433-3P	99.98	69.37	1203
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-1-3P	99.93	72.35	1914
HSA-MIR-206	99.93	72.50	1893
HSA-MIR-6835-3P	99.93	70.49	2904
HSA-MIR-613	99.91	71.50	1710
HSA-MIR-454-3P	99.91	74.01	1925
HSA-MIR-1305	99.91	71.43	3443
HSA-MIR-130A-3P	99.90	73.31	1861
HSA-MIR-130B-3P	99.90	73.27	1850
HSA-MIR-301A-3P	99.90	73.15	1839
HSA-MIR-301B-3P	99.90	73.19	1836
HSA-MIR-3666	99.90	73.24	1833

Functional genomics

ClinGen dosage: haploinsufficiency 3 (sufficient evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map DepMap (CRISPR cell-line fitness): dependent in 99.2% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 40)

• Results indicate that AP-2 is not essential for clathrin-coated vesicle formation at the plasma membrane, but that it is one of several endocytic adaptors required for the uptake of certain cargo proteins. (PMID:12952941)
• neither clathrin nor AP-2 is essential for the internalization of epidermal growth factor (PMID:12960147)
• Clathrin heavy chain phosphorylation and dephosphorylation are involved in TCR internalization; this is a regulatory mechanism linking TCR signaling to endocytosis. (PMID:15067034)
• Data suggest that clathrin heavy chains bound to light chains (LC) a and b contribute to pit formation, but the affinity of LCa-free HC in pits is reduced, and the Ca(2+)- and ATP-mediated control of clathrin function is lost. (PMID:16138905)
• Nuclear CHC is required for the transactivation of p53 target genes and plays a distinct role from clathrin-mediated endocytosis. (PMID:16618797)
• Syt I plays a pivotal role in mediating cAMP- and Ca(2+)-induced endocytosis of NHE3 (but not in inhibition of activity) through cargo recognition of NHE3 and subsequent recruitment of AP2-clathrin assembly required for membrane endocytosis. (PMID:17307723)
• Results establish a role for the retromer complex in retrograde transport of the B-subunit of Shiga toxin, and strongly suggest that clathrin and retromer function in consecutive retrograde sorting steps on early endosomes. (PMID:17550971)
• Nuclear CHC plays a role distinct from clathrin-mediated endocytosis. (PMID:17952123)
• The clathrin inhibitor phenylarsine oxide prevented SubAB entry and BiP cleavage in SubAB-treated Vero, HeLa and N2A cells demonstrating that SubAB internalization is clathrin-dependent. (PMID:18042253)
• cytosolic p53 may participate in the regulation of clathrin-mediated endocytosis to control the correct signaling from EGFR (PMID:18363968)
• The endocytic clathrin machinery can internalize double-membrane vesicles into cells. (PMID:18656476)
• Endocytosis of shiga toxin (Stx) in Ramos cells requires Syk activity and that Syk is recruited to the uptake site of Stx. (PMID:19289168)
• Data compared each paralogue in functional assays of endocytosis and mitosis, and find that CHC17 and CHC22 are functionally equivalent. (PMID:19509056)
• clathrin serving as a regulator of SNX4-dependent transport; upon clathrin release, dynein may bind SNX4 and mediate retrograde movement (PMID:19529763)
• GAK and CHC cooperated in the same pathway and interacted in mitosis to regulate the formation of a functional spindle. (PMID:19654208)
• Structural modeling analyses predict that an Asn1288 residue in CHC is crucial for binding to p53. In fact, substitution of this Asn to Ala of CHC diminished its ability to interact with p53, leading to reduced activity to transactivate p53. (PMID:19766654)
• The assembly efficiency of the various hepatitis delta virus genotypes correlates well with the clathrin heavy chain-binding activity of their HDAg-Ls and coincides with the severity of disease outcome. (PMID:19793827)
• Endocytosis of FcalphaR is clathrin- and dynamin-dependent, but is not regulated by Rab5, and the endocytic motif is not located in the cytoplasmic domain of FcalphaR. (PMID:19859085)
• These data indicate that the endocytic uptake of the clostridial glucosylating toxins involves a dynamin-dependent process that is mainly governed by clathrin. (PMID:20498856)
• the association between aurora A phosphorylation and spindle apparatus; regulation from aurora A is mediated by CHC in recruiting phospho-TACC3 and subsequently ch-TOG to mitotic spindles. (PMID:20566684)
• Data show in mammalian cells that the heavy chain of clathrin interacts with Atg16L1 and is involved in the formation of Atg16L1-positive early autophagosome precursors. (PMID:20639872)
• The authors now report that the integrase domain of Gag-Pol is required for the incorporation of clathrin into HIV-1 virions. (PMID:21289110)
• Clathrin is recruited to the mitotic spindle by TACC3 and ch-TOG. Together the complex forms inter-microtubule bridges in kinetochore fibres (PMID:21297582)
• Data suggest that clathrin’s role in intermicrotubule bridging can be fulfilled not only by trimers but also by dimers, and that the membrane trafficking and mitotic functions of clathrin are independent and separable. (PMID:21362119)
• CHC functions as a built-in molecular brake that ensures a tight control of basal NF-kappaB activation and gene expression in unstimulated cells. (PMID:21364927)
• Our findings strongly suggest that clathrin and clathrin-mediated signaling pathways are involved in the inflammatory signal transduction of orbital fibroblasts in Graves ophthalmopathy. (PMID:21917865)
• Postmitotic Golgi reassembly requires the clathrin heavy chain (CHC). (PMID:21965600)
• is required for lamellipodium formation (PMID:22010197)
• Electron tomography reveals Rab6 is essential to the trafficking of trans-Golgi clathrin and COPI-coated vesicles and the maintenance of Golgi cisternal number (PMID:22335553)
• These results indicate that Echovirus 7 is internalized by clathrin-mediated endocytosis. (PMID:22496312)
• Depletion of clathrin heavy chain (CHC)17, but not the CHC22 clathrin isoform, by ribonucleic acid interference (RNAi) induces centrosome amplification and multipolar spindles. (PMID:22891263)
• This study reveals a novel functional role of clathrin-coated structure in GMR signaling and the oncogenesis of JAK2V617F. (PMID:22935703)
• The authors demonstrate that clathrin promotes clustering of the vaccinia virus actin tail nucleator A36 and host N-WASP, which activates actin nucleation through the Arp2/3 complex. (PMID:22980331)
• High clathrin heavy chain expression promotes tumor pancreatic growth and angiogenesis through regulation of HIF-1alpha and VEGF signaling (PMID:23228632)
• SNX9 and CHC function in the same molecular pathway for chromosome alignment and segregation, which is dependent on their direct association. (PMID:23861900)
• clathrin interacts with Rab5 and plays a fundamental role in the entry and intracellular survival of B. abortus via interaction with lipid rafts and actin rearrangement (PMID:23940042)
• Clathrin and caveolin-1 have a role in docking of SMAD4 at the cell membrane. (PMID:24211445)
• These data indicate that clathrin is required for the function of AP-1- and GGA-coated carriers at the trans-Golgi network but may be dispensable for outward traffic en route to the plasma membrane. (PMID:24407285)
• clathrin-mediated and caveolae-mediated endocytosis of VE-cad contribute to lipopolysaccharide-induced vascular hyperpermeability. (PMID:25180771)
• autophagy contributed to Cx31.1 degradation, and clathrin might be involved in the autophagy of Cx31.1. (PMID:25388970)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	cltca	ENSDARG00000043493
danio_rerio	cltcb	ENSDARG00000090716
mus_musculus	Cltc	ENSMUSG00000047126
rattus_norvegicus	Cltc	ENSRNOG00000004291
drosophila_melanogaster	Chc	FBGN0000319
caenorhabditis_elegans		WBGENE00011867

Paralogs (2): CLTCL1 (ENSG00000070371), CLHC1 (ENSG00000162994)

Protein

Protein identifiers

Clathrin heavy chain 1 — Q00610 (reviewed: Q00610)

Alternative names: Clathrin heavy chain on chromosome 17

All UniProt accessions (21): A0A087WVQ6, A0A8V8TQ14, A0A8V8TQ18, A0A8V8TQK1, A0A8V8TQK3, A0A8V8TQK7, A0A8V8TR47, A0A8V8TRE8, A0A8V8TRF0, A0AAQ5BHN4, A0AAQ5BHN6, A0AAQ5BHN7, A0AAQ5BHT1, A0AAQ5BHT6, A0AAQ5BHU5, Q00610, J3KRF5, J3KS13, J3KTN1, J3QL20, K7EJJ5

UniProt curated annotations — full annotation on UniProt →

Function. Clathrin is the major protein of the polyhedral coat of coated pits and vesicles. Two different adapter protein complexes link the clathrin lattice either to the plasma membrane or to the trans-Golgi network. Acts as a component of the TACC3/ch-TOG/clathrin complex proposed to contribute to stabilization of kinetochore fibers of the mitotic spindle by acting as inter-microtubule bridge. The TACC3/ch-TOG/clathrin complex is required for the maintenance of kinetochore fiber tension. Plays a role in early autophagosome formation. Interaction with DNAJC6 mediates the recruitment of HSPA8 to the clathrin lattice and creates local destabilization of the lattice promoting uncoating.

Subunit / interactions. Clathrin triskelions, composed of 3 heavy chains and 3 light chains, are the basic subunits of the clathrin coat. In the presence of light chains, hub assembly is influenced by both the pH and the concentration of calcium. Interacts with HIP1. Interacts with DENND1A, DENND1B and DENND1C. May interact with OCRL. Interacts with ERBB2. Interacts with FKBP6. Interacts with CKAP5 and TACC3 forming the TACC3/ch-TOG/clathrin complex located at spindle inter-microtubules bridges; the complex implicates clathrin triskelions; TACC3 and CLTC are proposed to form a composite microtubule interaction surface. Interacts with ATG16L1 (via N-terminus). Interacts with RFTN1; the interaction occurs in response to pathogens. Interacts with USP2 isoform 4. Interacts with TMEM106B (via N-terminus). Interacts with DNAJC6; this interaction produces a local change in heavy-chain contacts, creating a detectable global distortion of the clathrin coat and leads to the recruitment of HSPA8.

Subcellular location. Cytoplasmic vesicle membrane. Membrane. Coated pit. Melanosome. Cytoplasm. Cytoskeleton. Spindle.

Disease relevance. Intellectual developmental disorder, autosomal dominant 56 (MRD56) [MIM:617854] A form of intellectual disability, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. The disease is caused by variants affecting the gene represented in this entry.

Domain organisation. The N-terminal seven-bladed beta-propeller is formed by WD40-like repeats, and projects inward from the polyhedral outer clathrin coat. It constitutes a major protein-protein interaction node.

Similarity. Belongs to the clathrin heavy chain family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q00610-1	1	yes
Q00610-2	2

RefSeq proteins (2): NP_001275582, NP_004850* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000547	Clathrin_H-chain/VPS_repeat	Repeat
IPR011990	TPR-like_helical_dom_sf	Homologous_superfamily
IPR015348	Clathrin_H-chain_linker_core	Domain
IPR016024	ARM-type_fold	Homologous_superfamily
IPR016025	Clathrin_H-chain_N	Homologous_superfamily
IPR016341	Clathrin_heavy_chain	Family
IPR022365	Clathrin_H-chain_propeller_rpt	Repeat
IPR055358	CHCR	Repeat

Pfam: PF00637, PF01394, PF09268, PF13838

UniProt features (115 total): strand 27, modified residue 18, mutagenesis site 17, region of interest 16, sequence variant 8, turn 7, repeat 7, helix 6, sequence conflict 5, splice variant 2, initiator methionine 1, chain 1

Structure

Experimental structures (PDB)

10 structures.

PDB	Method	Resolution (Å)
9C0Y	X-RAY DIFFRACTION	1.4
9C0Z	X-RAY DIFFRACTION	1.51
6E4L	X-RAY DIFFRACTION	1.6
4G55	X-RAY DIFFRACTION	1.69
2XZG	X-RAY DIFFRACTION	1.7
7BN2	X-RAY DIFFRACTION	1.97
7BN1	X-RAY DIFFRACTION	1.97
6QNN	X-RAY DIFFRACTION	2.03
7ZX4	X-RAY DIFFRACTION	2.08
6QNP	X-RAY DIFFRACTION	2.7

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q00610-F1	75.62	0.08

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 (18): 2, 67, 105, 184, 394, 634, 737, 856, 899, 1167, 1206, 1229, 1441, 1441, 1477, 1487, 1494, 1501

Mutagenesis-validated functional residues (17):

Position	Phenotype
65	disrupts spindle localization.
67	disrupts spindle localization.
87	disrupts spindle localization.
89	disrupts spindle localization.
96	disrupts spindle localization.
98	disrupts spindle localization.
444	disrupts spindle localization; when associated with e-445, e-500 e-506 and e-507.
445	disrupts spindle localization; when associated with e-444, e-500, e-506 and e-507.
480–484	disrupts spindle localization and interaction with tacc3.
481	disrupts spindle localization; when associated with e-487, e-500, e-506 and e-507.
487	disrupts spindle localization; when associated with e-481, e-500, e-506 and e-507.
500	disrupts spindle localization; when associated with e-444, e-445, e-506 and e-507.
500	disrupts spindle localization; when associated with e-481, e-487, e-506 and e-507.
506	disrupts spindle localization; when associated with e-444, e-445, e-500 and e-507.
506	disrupts spindle localization; when associated with e-481, e-487, e-500 and e-507.
507	disrupts spindle localization; when associated with e-444, e-445, e-500 and e-506.
507	disrupts spindle localization; when associated with e-481, e-487, e-500 and e-506.

Function

Pathways and Gene Ontology

Reactome pathways

19 pathways

ID	Pathway
R-HSA-168275	Entry of Influenza Virion into Host Cell via Endocytosis
R-HSA-177504	Retrograde neurotrophin signalling
R-HSA-190873	Gap junction degradation
R-HSA-196025	Formation of annular gap junctions
R-HSA-2132295	MHC class II antigen presentation
R-HSA-3928665	EPH-ephrin mediated repulsion of cells
R-HSA-432720	Lysosome Vesicle Biogenesis
R-HSA-437239	Recycling pathway of L1
R-HSA-5099900	WNT5A-dependent internalization of FZD4
R-HSA-5140745	WNT5A-dependent internalization of FZD2, FZD5 and ROR2
R-HSA-8856825	Cargo recognition for clathrin-mediated endocytosis
R-HSA-8856828	Clathrin-mediated endocytosis
R-HSA-8866427	VLDLR internalisation and degradation
R-HSA-8964038	LDL clearance
R-HSA-9013420	RHOU GTPase cycle
R-HSA-9013424	RHOV GTPase cycle
R-HSA-9700645	ALK mutants bind TKIs
R-HSA-9725370	Signaling by ALK fusions and activated point mutants
R-HSA-432722	Golgi Associated Vesicle Biogenesis

MSigDB gene sets: 610 (showing top): GGGACCA_MIR133A_MIR133B, REACTOME_RETROGRADE_NEUROTROPHIN_SIGNALLING, GOBP_POLYSACCHARIDE_BIOSYNTHETIC_PROCESS, GOBP_REGULATION_OF_MICROTUBULE_BASED_PROCESS, LU_IL4_SIGNALING, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GOCC_VACUOLAR_MEMBRANE, GOBP_TRANSITION_METAL_ION_TRANSPORT, LFA1_Q6, CGGAARNGGCNG_UNKNOWN, MORF_CDK2, HSIAO_HOUSEKEEPING_GENES, GOBP_OSTEOBLAST_DIFFERENTIATION, KEGG_LYSOSOME

GO Biological Process (17): mitotic cell cycle (GO:0000278), osteoblast differentiation (GO:0001649), intracellular protein transport (GO:0006886), receptor-mediated endocytosis (GO:0006898), autophagy (GO:0006914), receptor internalization (GO:0031623), transferrin transport (GO:0033572), retrograde transport, endosome to Golgi (GO:0042147), clathrin coat assembly (GO:0048268), cell division (GO:0051301), regulation of mitotic spindle organization (GO:0060236), clathrin coat disassembly (GO:0072318), clathrin-dependent endocytosis (GO:0072583), amyloid-beta clearance by transcytosis (GO:0150093), negative regulation of hyaluronan biosynthetic process (GO:1900126), negative regulation of protein localization to plasma membrane (GO:1903077), vesicle-mediated transport (GO:0016192)

GO Molecular Function (9): RNA binding (GO:0003723), double-stranded RNA binding (GO:0003725), structural molecule activity (GO:0005198), protein kinase binding (GO:0019901), clathrin light chain binding (GO:0032051), low-density lipoprotein particle receptor binding (GO:0050750), disordered domain specific binding (GO:0097718), ubiquitin-specific protease binding (GO:1990381), protein binding (GO:0005515)

GO Cellular Component (31): lysosome (GO:0005764), endosome (GO:0005768), spindle (GO:0005819), cytosol (GO:0005829), plasma membrane (GO:0005886), focal adhesion (GO:0005925), membrane (GO:0016020), clathrin coat (GO:0030118), clathrin coat of trans-Golgi network vesicle (GO:0030130), clathrin coat of coated pit (GO:0030132), clathrin-coated vesicle (GO:0030136), clathrin-coated endocytic vesicle membrane (GO:0030669), trans-Golgi network membrane (GO:0032588), protein-containing complex (GO:0032991), centriolar satellite (GO:0034451), endolysosome membrane (GO:0036020), melanosome (GO:0042470), clathrin-coated endocytic vesicle (GO:0045334), extracellular exosome (GO:0070062), clathrin complex (GO:0071439), mitotic spindle (GO:0072686), sperm midpiece (GO:0097225), extracellular vesicle (GO:1903561), mitotic spindle microtubule (GO:1990498), cytoplasm (GO:0005737), trans-Golgi network (GO:0005802), cytoskeleton (GO:0005856), clathrin-coated pit (GO:0005905), endomembrane system (GO:0012505), cytoplasmic vesicle membrane (GO:0030659), cytoplasmic vesicle (GO:0031410)

Reactome top-level categories

Rollup of top-14 pathways:

Category	Pathways
trans-Golgi Network Vesicle Budding	2
PCP/CE pathway	2
Plasma lipoprotein clearance	2
RHO GTPase cycle	2
Signaling by ALK in cancer	2
Influenza Infection	1
Signaling by NTRK1 (TRKA)	1
Gap junction trafficking	1
Gap junction degradation	1
Adaptive Immune System	1
EPH-Ephrin signaling	1
L1CAM interactions	1
Clathrin-mediated endocytosis	1
Membrane Trafficking	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
protein transport	2
receptor-mediated endocytosis	2
cellular process	2
clathrin coat	2
cell cycle	1
mitotic nuclear division	1
ossification	1
cell differentiation	1
intracellular protein localization	1
intracellular transport	1
endocytosis	1
catabolic process	1
transmembrane transport	1
process utilizing autophagic mechanism	1
iron ion transport	1
intercellular transport	1
endosomal transport	1
cytosolic transport	1
protein-containing complex assembly	1
mitotic spindle organization	1
regulation of spindle organization	1
vesicle uncoating	1
clathrin-dependent endocytosis	1
transcytosis	1
amyloid-beta clearance	1
negative regulation of macromolecule biosynthetic process	1
hyaluronan biosynthetic process	1
negative regulation of carbohydrate metabolic process	1
regulation of hyaluronan biosynthetic process	1
protein localization to plasma membrane	1
regulation of protein localization to plasma membrane	1
negative regulation of protein localization to cell periphery	1
negative regulation of protein localization to membrane	1
transport	1
nucleic acid binding	1
RNA binding	1
molecular_function	1
kinase binding	1
clathrin binding	1

Protein interactions and networks

STRING

4202 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CLTC	CLTB	P09497	974
CLTC	CLTA	P09496	959
CLTC	EPN2	O95208	946
CLTC	EPN3	Q9H201	935
CLTC	AMPH	P49418	867
CLTC	DNAJC6	O75061	860
CLTC	CLINT1	Q14677	859
CLTC	EEA1	Q15075	857
CLTC	SNAP91	O60641	850
CLTC	BIN1	O00499	848
CLTC	AP2A1	O95782	847
CLTC	DNM1	Q05193	845
CLTC	ATG16L1	Q676U5	838
CLTC	EPS15	P42566	836
CLTC	AP2M1	P20172	823

IntAct

323 interactions, top by confidence:

A	B	Type	Score
CEP97	CCP110	psi-mi:“MI:2364”(proximity)	0.950
HSPA8	BAG2	psi-mi:“MI:2364”(proximity)	0.860
OCRL	CLTC	psi-mi:“MI:0915”(physical association)	0.800
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
CLTC	ARRB2	psi-mi:“MI:0407”(direct interaction)	0.680
ARRB2	CLTC	psi-mi:“MI:0915”(physical association)	0.680
CLTC	CLTA	psi-mi:“MI:0915”(physical association)	0.670
ARRB2	ARRB2	psi-mi:“MI:0915”(physical association)	0.670
CLTC	DLGAP5	psi-mi:“MI:0915”(physical association)	0.650
CLTC	DLGAP5	psi-mi:“MI:0407”(direct interaction)	0.650
CLTC		psi-mi:“MI:0407”(direct interaction)	0.560
CLTC		psi-mi:“MI:0407”(direct interaction)	0.540
CLTC		psi-mi:“MI:0915”(physical association)	0.540
GRB2	ARHGEF35	psi-mi:“MI:0914”(association)	0.530

BioGRID (1025): CLTC (Affinity Capture-MS), CLTC (Affinity Capture-MS), CLTC (Affinity Capture-MS), GJB5 (Affinity Capture-Western), CLTC (Affinity Capture-Western), CLTC (Affinity Capture-RNA), CLTC (Affinity Capture-Western), CLTC (Affinity Capture-Western), CLTC (Affinity Capture-MS), CLTC (Affinity Capture-MS), CLTC (Affinity Capture-MS), CLTC (Affinity Capture-MS), ZFYVE9 (Reconstituted Complex), CLTC (Affinity Capture-Western), CLTC (Affinity Capture-MS)

ESM2 similar proteins: A0A644F649, A0AVF1, A1Z8E9, A4III8, A8BS40, A8JA42, A8XBR9, B5X0I6, O17581, O42668, O74458, O76094, O94459, O94474, P11442, P19735, P25870, P29742, P33731, P34574, P41889, P49951, P49965, P53675, P89105, Q00610, Q03560, Q13099, Q16JL4, Q20255, Q29L58, Q4R7Z9, Q57ZL2, Q5CZ52, Q5PR66, Q5U2N8, Q61LA1, Q68FD5, Q6GKV1, Q6INC1

Diamond homologs: P11442, P22137, P25870, P29742, P34574, P49951, P53675, Q00610, Q0WLB5, Q0WNJ6, Q10161, Q2QYW2, Q2RBN7, Q5XIR8, Q68FD5, Q4R6I5, Q5M6W3, Q8NHS4

SIGNOR signaling

7 interactions.

A	Effect	B	Mechanism
PICALM	up-regulates	CLTC	binding
ATG16L1	up-regulates	CLTC	binding
CLTC	“form complex”	“AP-2/clathrin vescicle”	binding
CLTC	“form complex”	“AP-3/clathrin vescicle”	binding
CLTC	“form complex”	“AP-1/clathrin vescicle”	binding
SRC	up-regulates	CLTC	phosphorylation
GAK	“up-regulates activity”	CLTC	phosphorylation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 183 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
RIP-mediated NFkB activation via ZBP1	8	42.0×	2e-09
TRAF6 mediated NF-kB activation	8	28.6×	3e-08
MAP3K8 (TPL2)-dependent MAPK1/3 activation	5	27.9×	3e-05
TAK1-dependent IKK and NF-kappa-B activation	9	21.1×	4e-08
TNFR1-induced NF-kappa-B signaling pathway	8	21.0×	2e-07
CD209 (DC-SIGN) signaling	5	20.3×	1e-04
Activation of NF-kappaB in B cells	13	20.0×	4e-11
TNF signaling	6	19.8×	2e-05

GO biological processes:

GO term	Partners	Fold	FDR
non-canonical NF-kappaB signal transduction	9	48.3×	4e-11
canonical NF-kappaB signal transduction	15	35.0×	9e-17
tumor necrosis factor-mediated signaling pathway	10	21.1×	1e-08
extrinsic apoptotic signaling pathway via death domain receptors	6	15.3×	4e-04
intrinsic apoptotic signaling pathway	5	11.4×	7e-03
autophagosome maturation	5	11.2×	7e-03
mitophagy	5	10.1×	1e-02
obsolete positive regulation of NF-kappaB transcription factor activity	7	9.2×	1e-03

Disease & clinical

Cancer significance

From intOGen — cancer-driver classification: activating (oncogene-like) across 5 cancer types — BRCA, CCRCC, CHOL, HCC, UTUC.

Clinical variants and AI predictions

ClinVar

1231 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	67
Likely pathogenic	58
Uncertain significance	524
Likely benign	493
Benign	33

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1029302	NM_004859.4(CLTC):c.4602C>G (p.Tyr1534Ter)	Pathogenic
1077136	NM_004859.4(CLTC):c.4739A>G (p.Asp1580Gly)	Pathogenic
1254050	NM_004859.4(CLTC):c.4251GTT[1] (p.Leu1419del)	Pathogenic
1283912	NM_004859.4(CLTC):c.2646_2649del (p.Ile882_Tyr883insTer)	Pathogenic
1394601	NM_004859.4(CLTC):c.2129-7_2129-4del	Pathogenic
1453643	NM_004859.4(CLTC):c.2823_2824del (p.Leu943fs)	Pathogenic
1455678	NM_004859.4(CLTC):c.97G>T (p.Glu33Ter)	Pathogenic
1527908	NM_004859.4(CLTC):c.3470T>A (p.Leu1157Ter)	Pathogenic
1527930	NM_004859.4(CLTC):c.3766-13_3766-5del	Pathogenic
1685641	NM_004859.4(CLTC):c.2023A>G (p.Ile675Val)	Pathogenic
1685642	NM_004859.4(CLTC):c.3765+1G>A	Pathogenic
1721129	NM_004859.4(CLTC):c.4292A>G (p.Asp1431Gly)	Pathogenic
183428	NM_016077.5(PTRH2):c.269_270del (p.Ala90fs)	Pathogenic
1895389	NM_004859.4(CLTC):c.1898T>A (p.Leu633Ter)	Pathogenic
1992348	NM_004859.4(CLTC):c.2438del (p.Pro813fs)	Pathogenic
2024950	NM_004859.4(CLTC):c.133G>T (p.Gly45Ter)	Pathogenic
2065917	NM_004859.4(CLTC):c.1204C>T (p.Gln402Ter)	Pathogenic
208688	NM_004859.4(CLTC):c.2737_2738dup (p.Asp913fs)	Pathogenic
2120198	NM_004859.4(CLTC):c.3115C>T (p.Arg1039Cys)	Pathogenic
2573029	NM_004859.4(CLTC):c.1976C>G (p.Ser659Ter)	Pathogenic
2603685	NM_004859.4(CLTC):c.4485_4488del (p.Ala1496fs)	Pathogenic
2626759	NM_004859.4(CLTC):c.3249+1G>C	Pathogenic
2690891	NM_004859.4(CLTC):c.3339dup (p.Ala1114fs)	Pathogenic
2692697	NM_004859.4(CLTC):c.778_791del (p.Phe260fs)	Pathogenic
2693304	NM_004859.4(CLTC):c.4791del (p.Tyr1598fs)	Pathogenic
2735022	NM_004859.4(CLTC):c.1330C>T (p.Arg444Ter)	Pathogenic
2830262	NM_004859.4(CLTC):c.1660_1676dup (p.Ile559_Gln560insTrpAsnThrIleTer)	Pathogenic
3066041	NM_004859.4(CLTC):c.3049_3050del (p.Val1017fs)	Pathogenic
3066075	NM_004859.4(CLTC):c.4686_4687del (p.Glu1564fs)	Pathogenic
3243140	NC_000017.10:g.(?57721617)(57771213_?)del	Pathogenic

SpliceAI

4149 predictions. Top by Δscore:

Variant	Effect	Δscore
17:59644274:A:AG	acceptor_gain	1.0000
17:59644275:G:GC	acceptor_gain	1.0000
17:59644275:GC:G	acceptor_gain	1.0000
17:59644275:GCT:G	acceptor_gain	1.0000
17:59644275:GCTC:G	acceptor_gain	1.0000
17:59644275:GCTCC:G	acceptor_gain	1.0000
17:59644468:G:GG	donor_gain	1.0000
17:59644492:GAAT:G	donor_gain	1.0000
17:59647549:A:T	donor_gain	1.0000
17:59648238:A:AG	acceptor_gain	1.0000
17:59648239:G:GG	acceptor_gain	1.0000
17:59648239:GCA:G	acceptor_gain	1.0000
17:59648239:GCAA:G	acceptor_gain	1.0000
17:59648239:GCAAA:G	acceptor_gain	1.0000
17:59648397:GGAAG:G	donor_gain	1.0000
17:59648398:GAAGG:G	donor_gain	1.0000
17:59648402:G:GA	donor_loss	1.0000
17:59648402:G:GG	donor_gain	1.0000
17:59648403:T:A	donor_loss	1.0000
17:59651201:A:AG	acceptor_gain	1.0000
17:59651202:G:GG	acceptor_gain	1.0000
17:59651202:GTT:G	acceptor_gain	1.0000
17:59651202:GTTAC:G	acceptor_gain	1.0000
17:59655849:TGTA:T	acceptor_loss	1.0000
17:59655850:GTA:G	acceptor_loss	1.0000
17:59655851:TA:T	acceptor_loss	1.0000
17:59655852:A:AG	acceptor_gain	1.0000
17:59655852:A:AT	acceptor_loss	1.0000
17:59655853:G:GA	acceptor_gain	1.0000
17:59655853:GATCA:G	acceptor_gain	1.0000

AlphaMissense

11105 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:59620147:C:A	P6T	1.000
17:59620148:C:A	P6Q	1.000
17:59620148:C:G	P6R	1.000
17:59644312:T:C	F27L	1.000
17:59644313:T:G	F27C	1.000
17:59644314:C:A	F27L	1.000
17:59644314:C:G	F27L	1.000
17:59644322:T:C	L30P	1.000
17:59644333:T:C	S34P	1.000
17:59644348:T:C	C39R	1.000
17:59644349:G:A	C39Y	1.000
17:59644350:C:G	C39W	1.000
17:59644424:G:C	R64T	1.000
17:59644425:A:C	R64S	1.000
17:59644425:A:T	R64S	1.000
17:59644430:T:A	I66N	1.000
17:59644436:C:A	A68E	1.000
17:59644445:C:A	A71D	1.000
17:59644455:T:A	N74K	1.000
17:59644455:T:G	N74K	1.000
17:59644472:T:A	I80N	1.000
17:59644474:G:C	A81P	1.000
17:59644475:C:A	A81E	1.000
17:59644478:T:A	L82Q	1.000
17:59644478:T:C	L82P	1.000
17:59647410:T:C	L88P	1.000
17:59647414:G:C	Q89H	1.000
17:59647414:G:T	Q89H	1.000
17:59647418:T:C	F91L	1.000
17:59647419:T:C	F91S	1.000

dbSNP variants (sampled 300 via entrez): RS1000015546 (17:59621714 C>T), RS1000124265 (17:59658261 C>T), RS1000156927 (17:59631484 T>C), RS1000196740 (17:59692203 G>A), RS1000203771 (17:59670739 T>G), RS1000222516 (17:59621547 G>A), RS1000238898 (17:59648468 A>G), RS1000336574 (17:59636115 C>A), RS1000417603 (17:59648074 C>T), RS1000448797 (17:59678749 C>T), RS1000455765 (17:59628452 C>A,G), RS1000479912 (17:59678972 C>A), RS1000526075 (17:59695097 T>C), RS1000550447 (17:59693690 C>T), RS1000552292 (17:59635114 A>C,G)

Disease associations

OMIM: gene MIM:118955 | disease phenotypes: MIM:617854, MIM:616263, MIM:609942

GenCC curated gene-disease

Disease	Classification	Inheritance
intellectual disability, autosomal dominant 56	Strong	Autosomal dominant
autosomal dominant non-syndromic intellectual disability	Supportive	Autosomal dominant
undetermined early-onset epileptic encephalopathy	Supportive	Autosomal dominant

Mondo (7): intellectual disability, autosomal dominant 56 (MONDO:0030922), autosomal dominant non-syndromic intellectual disability (MONDO:0015802), intellectual disability (MONDO:0001071), neurodevelopmental disorder (MONDO:0700092), neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 (MONDO:8000012), Noonan syndrome 3 (MONDO:0012371), undetermined early-onset epileptic encephalopathy (MONDO:0018614)

Orphanet (4): Autosomal dominant non-syndromic intellectual disability (Orphanet:178469), Infantile multisystem neurologic-endocrine-pancreatic disease (Orphanet:456312), Noonan syndrome (Orphanet:648), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)

HPO phenotypes

79 total (30 of 79 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000194	Open mouth
HP:0000218	High palate
HP:0000219	Thin upper lip vermilion
HP:0000252	Microcephaly
HP:0000338	Hypomimic face
HP:0000343	Long philtrum
HP:0000348	High forehead
HP:0000407	Sensorineural hearing impairment
HP:0000411	Protruding ear
HP:0000494	Downslanted palpebral fissures
HP:0000504	Abnormality of vision
HP:0000505	Visual impairment
HP:0000508	Ptosis
HP:0000546	Retinal degeneration
HP:0000582	Upslanted palpebral fissure
HP:0000639	Nystagmus
HP:0000648	Optic atrophy
HP:0000668	Hypodontia
HP:0000708	Atypical behavior
HP:0000717	Autism
HP:0000736	Short attention span
HP:0000750	Delayed speech and language development
HP:0001249	Intellectual disability
HP:0001250	Seizure
HP:0001251	Ataxia
HP:0001252	Hypotonia
HP:0001257	Spasticity
HP:0001263	Global developmental delay
HP:0001265	Hyporeflexia

GWAS associations

0 associations (top):

MeSH disease descriptors (3)

Descriptor	Name	Tree numbers
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539
D065886	Neurodevelopmental Disorders	F03.625
C537847	Noonan syndrome 3 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL3108634 (SINGLE PROTEIN)

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

ChEMBL bioactivities

7 potent at pChembl≥5 of 20 total, top 7 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
7.72	Kd	18.95	nM	CHEMBL3752910
7.72	ED50	18.95	nM	CHEMBL3752910
7.67	Kd	21.35	nM	CHEMBL5653589
7.67	ED50	21.35	nM	CHEMBL5653589
5.16	IC50	6900	nM	CHEMBL3110181
5.00	IC50	1e+04	nM	CHEMBL3110178
5.00	IC50	1e+04	nM	CHEMBL3110180

PubChem BioAssay actives

5 with measured affinity, of 40 total; 5 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2148092: Binding affinity to human CLTC incubated for 45 mins by Kinobead based pull down assay	kd	0.0190	uM
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2148092: Binding affinity to human CLTC incubated for 45 mins by Kinobead based pull down assay	kd	0.0214	uM
potassium 2-benzyl-1,3-dioxobenzo[de]isoquinoline-5-sulfonate	1065873: Inhibition of recombinant GST-tagged clathrin heavy chain (unknown origin) after 1 hr by ELISA	ic50	6.9000	uM
potassium 2-[(4-chlorophenyl)methyl]-1,3-dioxobenzo[de]isoquinoline-5-sulfonate	1065873: Inhibition of recombinant GST-tagged clathrin heavy chain (unknown origin) after 1 hr by ELISA	ic50	10.0000	uM
potassium 2-[(2-aminophenyl)methyl]-1,3-dioxobenzo[de]isoquinoline-5-sulfonate	1065873: Inhibition of recombinant GST-tagged clathrin heavy chain (unknown origin) after 1 hr by ELISA	ic50	10.0000	uM

CTD chemical–gene interactions

50 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Arsenic Trioxide	affects cotreatment, affects expression, decreases expression, increases expression	3
bisphenol A	affects cotreatment, increases methylation, increases expression	2
Benzene	increases expression	2
Fluorouracil	affects cotreatment, affects response to substance, affects reaction, decreases expression	2
Tobacco Smoke Pollution	affects expression, increases expression	2
aristolochic acid I	decreases expression	1
FR900359	increases phosphorylation	1
pyrogallol 1,3-dimethyl ether	affects cotreatment, decreases expression, affects localization	1
salinomycin	decreases expression	1
arsenite	affects binding, decreases reaction	1
methylparaben	increases expression	1
sodium arsenite	increases expression	1
yessotoxin	increases expression	1
glycidamide	increases expression	1
deguelin	increases expression	1
nutlin 3	affects cotreatment, increases secretion	1
bisphenol B	increases expression	1
nilotinib	affects cotreatment, affects expression	1
2-amino-14,16-dimethyloctadecan-3-ol	decreases expression	1
jinfukang	decreases expression	1
PP242	decreases expression	1
Irinotecan	affects cotreatment, affects response to substance, decreases expression	1
Resveratrol	affects cotreatment, increases expression	1
Temozolomide	decreases expression	1
Decitabine	affects methylation	1
Fulvestrant	affects cotreatment, increases methylation	1
Acetaminophen	decreases expression	1
Air Pollutants	increases abundance, increases expression	1
Caffeine	increases phosphorylation	1
Carbamazepine	affects expression	1

ChEMBL screening assays

8 unique, capped per target: 8 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL3110375	Binding	Inhibition of recombinant GST-tagged clathrin heavy chain (unknown origin) at 100 uM after 1 hr by ELISA	Development of 1,8-naphthalimides as clathrin inhibitors. — J Med Chem

Cellosaurus cell lines

20 cell lines: 20 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_1092	BT-549	Cancer cell line	Female
CVCL_1259	HCC1954	Cancer cell line	Female
CVCL_4W93	HCC1954-Luc	Cancer cell line	Female
CVCL_5711	BJAB	Cancer cell line	Female
CVCL_5948	11-9-1-4	Cancer cell line	Female
CVCL_B3MM	HCC1954/TDR	Cancer cell line	Female
CVCL_F1N2	HyCyte BT-549 KO-hARTN	Cancer cell line	Female
CVCL_F1N3	HyCyte BT-549 KO-hBAD	Cancer cell line	Female
CVCL_F1N4	HyCyte BT-549 KO-hCD70	Cancer cell line	Female
CVCL_F1N5	HyCyte BT-549 KO-hEOMES	Cancer cell line	Female

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT05657860	PHASE4	COMPLETED	Guanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome
NCT05744479	PHASE4	RECRUITING	Metformin for Antipsychotic-induced Weight Gain in Adults With Intellectual Disability
NCT06107829	PHASE4	WITHDRAWN	Valbenazine Treatment of Tardive Dyskinesia in Adults With Intellectual/Developmental Disabilities
NCT06997198	PHASE4	NOT_YET_RECRUITING	Deutetrabenazine Treatment for Tardive Dyskinesia in Intellectual/Developmental Disabilities
NCT04586348	PHASE4	UNKNOWN	Prenatal Iodine Supplementation and Early Childhood Neurodevelopment
NCT04873115	PHASE4	UNKNOWN	Double-blind, Placebo-controlled, Randomized Clinical Trial Comparing the Efficacy and Safety of Sialanar Plus orAl rehabiLitation Against Placebo Plus Oral Rehabilitation for chIldren and Adolescents With seVere Sialorrhoea and Neurodisabilties,
NCT02270736	PHASE3	COMPLETED	Clinical Study to Investigate the Efficacy and Safety of NT 201 Compared to Placebo in the Treatment of Chronic Troublesome Drooling Associated With Neurological Disorders and/or Intellectual Disability
NCT02559102	PHASE3	COMPLETED	Dexmedetomidine Sedation Versus General Anaesthesia for Inguinal Hernia Surgery in Infants
NCT02757079	PHASE3	COMPLETED	Study of the Efficacy and Safety of NPC-15 for Sleep Disorders of Children With Neurodevelopmental Disorders
NCT06915480	PHASE3	RECRUITING	Reducing Missed Appointments
NCT07377032	PHASE3	RECRUITING	TAP-GRIN: Interventional Study on Patients With GRIN-related Neurodevelopmental Disorders
NCT02304302	PHASE2	COMPLETED	Down Syndrome Memantine Follow-up Study
NCT03862950	PHASE2	COMPLETED	A Trial of Metformin in Individuals With Fragile X Syndrome (Met)
NCT04529226	PHASE2	UNKNOWN	Study to Compare Clozapine vs Treatment as Usual in People With Intellectual Disability & Treatment-resistant Psychosis
NCT04821856	PHASE2	COMPLETED	Evaluation of the Effectiveness of Cannabidiol in Treating Severe Behavioural Problems in Children and Adolescents With Intellectual Disability
NCT02909959	PHASE2	COMPLETED	Sulforaphane for the Treatment of Young Men With Autism Spectrum Disorder
NCT06081348	PHASE2	RECRUITING	Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders
NCT06352372	PHASE2	COMPLETED	Safety and Efficacy of tPBM for Epileptiform Activity in Autism
NCT05273320	PHASE1	COMPLETED	Clinical Trial of Nabilone for Aggression in Adults With Intellectual and Developmental Disabilities
NCT05301361	PHASE1	ENROLLING_BY_INVITATION	Sensitivity of the NIH Toolbox to Stimulant Treatment in Intellectual Disabilities
NCT06016764	PHASE1	COMPLETED	Use of MRI and cTBS for Catatonia in Autism
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