EFTUD2

Summary

EFTUD2 (elongation factor Tu GTP binding domain containing 2, HGNC:30858) is a protein-coding gene on chromosome 17q21.31, encoding 116 kDa U5 small nuclear ribonucleoprotein component (Q15029). Required for pre-mRNA splicing as component of the spliceosome, including pre-catalytic, catalytic and post-catalytic spliceosomal complexes. It is a common-essential gene (DepMap: required in 99.8% of cancer cell lines) and haploinsufficient (ClinGen: sufficient evidence).

This gene encodes a GTPase which is a component of the spliceosome complex which processes precursor mRNAs to produce mature mRNAs. Mutations in this gene are associated with mandibulofacial dysostosis with microcephaly. Multiple transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 9343 — RefSeq curated summary.

At a glance

• Gene–disease (curated): mandibulofacial dysostosis-microcephaly syndrome (Definitive, ClinGen)
• GWAS associations: 2
• Clinical variants (ClinVar): 956 total — 99 pathogenic, 70 likely-pathogenic
• Phenotypes (HPO): 46
• Druggable target: yes — 1 molecules with ChEMBL bioactivity
• Cancer driver (intOGen): activating (oncogene-like) across 1 cancer types
• Cancer dependency (DepMap): dependent in 99.8% of screened cell lines (common-essential)
• Dosage sensitivity (ClinGen): haploinsufficiency sufficient evidence, triplosensitivity no evidence
• MANE Select transcript: NM_004247

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:30858
Approved symbol	EFTUD2
Name	elongation factor Tu GTP binding domain containing 2
Location	17q21.31
Locus type	gene with protein product
Status	Approved
Aliases	U5-116KD, Snrp116, Snu114, SNRNP116
Ensembl gene	ENSG00000108883
Ensembl biotype	protein_coding
OMIM	603892
Entrez	9343

Gene structure

Transcript identifiers

Ensembl transcripts: 42 — 23 protein_coding, 14 retained_intron, 3 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined

ENST00000402521, ENST00000426333, ENST00000585616, ENST00000585794, ENST00000586276, ENST00000586654, ENST00000586875, ENST00000587914, ENST00000587957, ENST00000588340, ENST00000588374, ENST00000589211, ENST00000589475, ENST00000589769, ENST00000589825, ENST00000590105, ENST00000590124, ENST00000590367, ENST00000590977, ENST00000591382, ENST00000591856, ENST00000592408, ENST00000592576, ENST00000592701, ENST00000593072, ENST00000593200, ENST00000880573, ENST00000880574, ENST00000880575, ENST00000880576, ENST00000880577, ENST00000925102, ENST00000925103, ENST00000925104, ENST00000925105, ENST00000969863, ENST00000969864, ENST00000969865, ENST00000969866, ENST00000969867, ENST00000969868, ENST00000969869

RefSeq mRNA: 4 — MANE Select: NM_004247 NM_001142605, NM_001258353, NM_001258354, NM_004247

CCDS: CCDS11489, CCDS45707, CCDS59295

Canonical transcript exons

ENST00000426333 — 28 exons

Exon	Start	End
ENSE00000731710	44875934	44876100
ENSE00000731712	44872446	44872570
ENSE00000897994	44853517	44853635
ENSE00000897996	44854269	44854356
ENSE00001562801	44849948	44851369
ENSE00002753940	44899369	44899445
ENSE00003469531	44851710	44851817
ENSE00003485324	44854918	44855004
ENSE00003505008	44881687	44881722
ENSE00003520040	44883093	44883158
ENSE00003535956	44852409	44852562
ENSE00003540960	44859905	44860045
ENSE00003542876	44862713	44862906
ENSE00003543414	44868287	44868350
ENSE00003552970	44879556	44879638
ENSE00003573385	44894417	44894525
ENSE00003584154	44863655	44863782
ENSE00003584566	44853296	44853390
ENSE00003627866	44854556	44854682
ENSE00003633543	44867807	44867897
ENSE00003639072	44857075	44857157
ENSE00003644492	44885256	44885334
ENSE00003654703	44864930	44865065
ENSE00003657482	44883649	44883724
ENSE00003658803	44880554	44880644
ENSE00003670210	44860432	44860543
ENSE00003687595	44859080	44859181
ENSE00003756120	44886585	44886750

Expression profiles

Bgee: expression breadth ubiquitous, 253 present calls, max score 97.07.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 48.0302 / max 1019.3506, expressed in 1823 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
166403	47.0114	1823
166404	1.0188	516

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
bone marrow cell	CL:0002092	97.07	gold quality
tibialis anterior	UBERON:0001385	96.82	gold quality
ventricular zone	UBERON:0003053	96.81	gold quality
adrenal tissue	UBERON:0018303	96.72	gold quality
monocyte	CL:0000576	96.68	gold quality
leukocyte	CL:0000738	96.61	gold quality
ileal mucosa	UBERON:0000331	96.60	gold quality
ganglionic eminence	UBERON:0004023	95.83	gold quality
upper arm skin	UBERON:0004263	95.67	gold quality
cortical plate	UBERON:0005343	95.31	gold quality
gastrocnemius	UBERON:0001388	95.27	gold quality
stromal cell of endometrium	CL:0002255	95.17	gold quality
muscle of leg	UBERON:0001383	95.16	gold quality
islet of Langerhans	UBERON:0000006	95.03	gold quality
calcaneal tendon	UBERON:0003701	95.02	gold quality
vermiform appendix	UBERON:0001154	94.99	gold quality
cardiac muscle of right atrium	UBERON:0003379	94.95	silver quality
sural nerve	UBERON:0015488	94.87	gold quality
granulocyte	CL:0000094	94.77	gold quality
nasal cavity epithelium	UBERON:0005384	94.44	gold quality
hindlimb stylopod muscle	UBERON:0004252	94.43	gold quality
rectum	UBERON:0001052	94.34	gold quality
skin of leg	UBERON:0001511	94.17	gold quality
deltoid	UBERON:0001476	94.14	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	94.01	gold quality
left ventricle myocardium	UBERON:0006566	93.87	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	93.67	gold quality
colonic epithelium	UBERON:0000397	93.62	gold quality
adrenal gland	UBERON:0002369	93.53	gold quality
zone of skin	UBERON:0000014	93.50	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	7.33

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

54 targeting EFTUD2, 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-4283	100.00	66.42	2097
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-6870-5P	99.99	68.55	2115
HSA-MIR-4723-5P	99.97	68.70	2034
HSA-MIR-5698	99.97	68.49	2029
HSA-MIR-7111-5P	99.97	68.48	2062
HSA-MIR-1297	99.91	73.41	3162
HSA-MIR-498-3P	99.91	71.27	1114
HSA-MIR-627-3P	99.90	71.42	3316
HSA-MIR-26A-5P	99.78	73.52	2303
HSA-MIR-26B-5P	99.78	73.51	2305
HSA-MIR-4306	99.72	70.50	3630
HSA-MIR-4465	99.71	72.56	2096
HSA-MIR-3175	99.65	66.30	2031
HSA-MIR-3177-5P	99.65	70.38	1174
HSA-MIR-4328	99.57	71.06	4094
HSA-MIR-6716-5P	99.56	68.62	1244
HSA-MIR-186-3P	99.51	66.24	1685
HSA-MIR-4696	99.48	67.48	1040
HSA-MIR-1275	99.47	67.90	2749
HSA-MIR-3915	99.45	68.49	1905
HSA-MIR-185-5P	99.35	68.60	2497
HSA-MIR-4644	99.35	69.12	2514
HSA-MIR-4685-5P	99.25	65.99	1563
HSA-MIR-6837-5P	99.25	65.47	1632
HSA-MIR-544B	99.18	67.41	1632
HSA-MIR-892C-5P	99.16	70.56	2116
HSA-MIR-3127-3P	98.94	67.34	1055

Functional genomics

ClinGen dosage: haploinsufficiency 3 (sufficient evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map DepMap (CRISPR cell-line fitness): dependent in 99.8% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 23)

• Validation studies of eight additional individuals with MFDM demonstrated causative EFTUD2 mutations in all affected individuals tested. (PMID:22305528)
• EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia. (PMID:23188108)
• Novel mutations in EFTUD2 were discovered in 3 patients. These mutations expand the clinical features in patients with EFTUD2 mutations and demonstrate an overlap with oculo-auriculo-vertebral spectrum. (PMID:23239648)
• the phenotype in patients with EFTUD2 mutations is much broader than previously anticipated; in addition to AFD type Guion-Almeida and syndromic esophageal atresia, oto-facial syndrome also belongs to the EFTUD2 mutation spectrum (PMID:23879989)
• A de nove deletion mutation at 17q21.31, encompassing the EFTUD2 gene, is associated with congenital mandibulofacial dysostosis with microcephaly. (PMID:24266672)
• Study describes loss-of-function mutations in EFTUD2 gene in patients with different clinical manifestations of Mandibulofacial dysostosis, Guion-Almeida type syndrome. (PMID:24470203)
• Three different mutations in EFTUD2 gene were found in patients with mandibulofacial dysostosis type Guion-Almeida syndrome (PMID:25387991)
• Results show that SNW1 directly associates with EFTUD2 and SNRNP200 and that disruption of SNW1 association with these proteins promotes the apoptosis of breast cancer cells. (PMID:25450007)
• Novel heterozygous mutations in EFTUD2, detected by exome sequencing, in mandibulofacial dysostosis with Microcephaly syndrome. (PMID:25735261)
• We report a clinical and extensive molecular study, including TCOF1, POLR1D, POLR1C, and EFTUD2 genes, in a series of 146 patients with TCS. (PMID:25790162)
• These data demonstrate that EFTUD2 restricts Hepatitis C Virus infection mainly through an RIG-I/MDA5-mediated, JAK-STAT-independent pathway, thereby revealing the participation of EFTUD2 as a novel innate immune regulator. (PMID:25878102)
• An update on mandibulofacial dysostosis with microcephaly and EFTUD2 mutations has been presented. (Review) (PMID:26507355)
• we report two individuals of Asian ancestry with Mandibulofacial dysostosis type Guion-Almeida (MFDGA), each harboring a novel, pathogenic splice site variant in EFTUD2 (PMID:29381487)
• report 2 cases of mandibulofacial dysostosis with microcephaly (MFDM) with different and novel de novo mutations in the elongation factor Tu GTP binding domain containing 2 gene (PMID:30343593)
• EFTUD2 missense variants disrupt protein function and splicing in mandibulofacial dysostosis Guion-Almeida type. (PMID:32333448)
• Spliceosome protein EFTUD2 is upregulated in the trophoblast of spontaneous miscarriage and hydatidiform mole. (PMID:32447180)
• A novel EFTUD2 mutation identified an adult male with mandibulofacial dysostosis Guion-Almeida type. (PMID:32541334)
• EFTUD2 maintains the survival of tumor cells and promotes hepatocellular carcinoma progression via the activation of STAT3. (PMID:33024090)
• Mandibulofacial dysostosis with microcephaly: An expansion of the phenotype via parental survey. (PMID:33247512)
• Association of Elongation Factor Tu GTP-binding Domain-containing 2 Gene (EFTUD2) Polymorphism with the Risk of Hepatitis B Virus Infection. (PMID:34436958)
• The Pregnancy Zone Protein (PZP) is significantly downregulated in the placenta of preeclampsia and HELLP syndrome patients. (PMID:35843132)
• The Spliceosome Factor EFTUD2 Promotes IFN Anti-HBV Effect through mRNA Splicing. (PMID:37396299)
• Identification of novel mutations in EYA3 and EFTUD2 in a family with craniofacial microsomia: evidence of digenic inheritance. (PMID:37507637)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	eftud2	ENSDARG00000012261
mus_musculus	Eftud2	ENSMUSG00000020929
rattus_norvegicus	Eftud2	ENSRNOG00000002818
drosophila_melanogaster	CG4849	FBGN0039566
caenorhabditis_elegans		WBGENE00001166

Paralogs (18): MTIF2 (ENSG00000085760), GTPBP1 (ENSG00000100226), EEF1A2 (ENSG00000101210), GSPT1 (ENSG00000103342), HBS1L (ENSG00000112339), EIF2S3 (ENSG00000130741), EEFSEC (ENSG00000132394), EFL1 (ENSG00000140598), GUF1 (ENSG00000151806), EEF1A1 (ENSG00000156508), EIF5B (ENSG00000158417), GFM2 (ENSG00000164347), EEF2 (ENSG00000167658), GFM1 (ENSG00000168827), GTPBP2 (ENSG00000172432), TUFM (ENSG00000178952), EIF2S3B (ENSG00000180574), GSPT2 (ENSG00000189369)

Protein

Protein identifiers

116 kDa U5 small nuclear ribonucleoprotein component — Q15029 (reviewed: Q15029)

Alternative names: Elongation factor Tu GTP-binding domain-containing protein 2, SNU114 homolog, U5 snRNP-specific protein, 116 kDa

All UniProt accessions (7): Q15029, K7EIT3, K7EIV5, K7EJ74, K7EP67, K7EQ26, K7ERJ5

UniProt curated annotations — full annotation on UniProt →

Function. Required for pre-mRNA splicing as component of the spliceosome, including pre-catalytic, catalytic and post-catalytic spliceosomal complexes. Component of the U5 snRNP and the U4/U6-U5 tri-snRNP complex, a building block of the spliceosome. As a component of the minor spliceosome, involved in the splicing of U12-type introns in pre-mRNAs.

Subunit / interactions. Component of the U5 snRNP and the U4/U6-U5 tri-snRNP complex, a building block of the spliceosome. The U4/U6-U5 tri-snRNP complex is composed of the U4, U6 and U5 snRNAs and at least PRPF3, PRPF4, PRPF6, PRPF8, PRPF31, SNRNP200, TXNL4A, SNRNP40, DDX23, CD2BP2, PPIH, SNU13, EFTUD2, SART1 and USP39. Component of the pre-catalytic, catalytic and post-catalytic spliceosome complexes. Component of the minor spliceosome, which splices U12-type introns. Within this complex, interacts with CRIPT. Interacts with ERBB4 and PRPF8. Interacts with PIH1D1. Interacts with RPAP3 and URI1 in a ZNHIT2-dependent manner. Interacts with NRDE2. Interacts with FAM50A. Interacts with UBL5.

Subcellular location. Nucleus.

Disease relevance. Mandibulofacial dysostosis with microcephaly (MFDM) [MIM:610536] A rare syndrome characterized by progressive microcephaly, midface and malar hypoplasia, micrognathia, microtia, dysplastic ears, preauricular skin tags, significant developmental delay, and speech delay. Many patients have major sequelae, including choanal atresia that results in respiratory difficulties, conductive hearing loss, and cleft palate. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family. EF-G/EF-2 subfamily.

Isoforms (3)

UniProt ID	Names	Canonical?
Q15029-1	1	yes
Q15029-2	2
Q15029-3	3

RefSeq proteins (4): NP_001136077, NP_001245282, NP_001245283, NP_004238* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000640	EFG_V-like	Domain
IPR000795	T_Tr_GTP-bd_dom	Domain
IPR004161	EFTu-like_2	Domain
IPR005225	Small_GTP-bd	Domain
IPR005517	Transl_elong_EFG/EF2_IV	Domain
IPR009000	Transl_B-barrel_sf	Homologous_superfamily
IPR014721	Ribsml_uS5_D2-typ_fold_subgr	Homologous_superfamily
IPR020568	Ribosomal_Su5_D2-typ_SF	Homologous_superfamily
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR031950	EFTUD2_N	Domain
IPR035647	EFG_III/V	Homologous_superfamily
IPR035655	U5-116kDa_C	Domain
IPR041095	EFG_II	Domain
IPR044121	Snu114_GTP-bd	Domain

Pfam: PF00009, PF00679, PF03144, PF03764, PF14492, PF16004

UniProt features (125 total): strand 54, helix 32, turn 17, sequence variant 4, modified residue 3, sequence conflict 3, binding site 3, cross-link 2, splice variant 2, compositionally biased region 2, chain 1, domain 1, region of interest 1

Structure

Experimental structures (PDB)

68 structures, top 30 by resolution.

PDB	Method	Resolution (Å)
8H6L	ELECTRON MICROSCOPY	2.6
8H6K	ELECTRON MICROSCOPY	2.7
8C6J	ELECTRON MICROSCOPY	2.8
6ID1	ELECTRON MICROSCOPY	2.86
7DVQ	ELECTRON MICROSCOPY	2.89
6ID0	ELECTRON MICROSCOPY	2.9
6QW6	ELECTRON MICROSCOPY	2.92
6ICZ	ELECTRON MICROSCOPY	3
8I0R	ELECTRON MICROSCOPY	3
8I0T	ELECTRON MICROSCOPY	3
8I0V	ELECTRON MICROSCOPY	3
7QTT	ELECTRON MICROSCOPY	3.1
8Q7N	ELECTRON MICROSCOPY	3.1
8Q91	ELECTRON MICROSCOPY	3.1
8QOZ	ELECTRON MICROSCOPY	3.1
8QPE	ELECTRON MICROSCOPY	3.1
9R3D	ELECTRON MICROSCOPY	3.12
8H6E	ELECTRON MICROSCOPY	3.2
8Q7Q	ELECTRON MICROSCOPY	3.2
8RC0	ELECTRON MICROSCOPY	3.2
8H6J	ELECTRON MICROSCOPY	3.25
6QX9	ELECTRON MICROSCOPY	3.28
6QDV	ELECTRON MICROSCOPY	3.3
8I0U	ELECTRON MICROSCOPY	3.3
9FMD	ELECTRON MICROSCOPY	3.3
8Y6O	ELECTRON MICROSCOPY	3.38
6FF4	ELECTRON MICROSCOPY	3.4
6ZYM	ELECTRON MICROSCOPY	3.4
8I0P	ELECTRON MICROSCOPY	3.4
8I0W	ELECTRON MICROSCOPY	3.4

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q15029-F1	89.94	0.76

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Ligand- & substrate-binding residues (3): 136–143; 204–208; 258–261

Post-translational modifications (5): 86, 64, 64, 1, 19

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-72163	mRNA Splicing - Major Pathway
R-HSA-72165	mRNA Splicing - Minor Pathway
R-HSA-9918481	Dengue Virus-Host Interactions

MSigDB gene sets: 293 (showing top): GOBP_RESPONSE_TO_NITROGEN_COMPOUND, GOBP_RESPONSE_TO_COCAINE, GOBP_NEGATIVE_REGULATION_OF_RNA_SPLICING, MODULE_150, USF_C, MODULE_388, GOBP_RESPONSE_TO_ALKALOID, GOBP_SPLICEOSOMAL_TRI_SNRNP_COMPLEX_ASSEMBLY, MODULE_195, MARTINEZ_RB1_TARGETS_DN, REACTOME_PROCESSING_OF_CAPPED_INTRON_CONTAINING_PRE_MRNA, GOBP_PROTEIN_RNA_COMPLEX_ORGANIZATION, GOBP_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GOBP_RNA_SPLICING, REACTOME_MRNA_SPLICING

GO Biological Process (5): mRNA splicing, via spliceosome (GO:0000398), response to cocaine (GO:0042220), cellular response to xenobiotic stimulus (GO:0071466), mRNA processing (GO:0006397), RNA splicing (GO:0008380)

GO Molecular Function (6): RNA binding (GO:0003723), GTPase activity (GO:0003924), GTP binding (GO:0005525), U5 snRNA binding (GO:0030623), nucleotide binding (GO:0000166), protein binding (GO:0005515)

GO Cellular Component (11): nucleus (GO:0005634), nucleoplasm (GO:0005654), spliceosomal complex (GO:0005681), cytosol (GO:0005829), Cajal body (GO:0015030), membrane (GO:0016020), nuclear speck (GO:0016607), U4/U6 x U5 tri-snRNP complex (GO:0046540), U2-type precatalytic spliceosome (GO:0071005), U2-type catalytic step 2 spliceosome (GO:0071007), catalytic step 2 spliceosome (GO:0071013)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
mRNA Splicing	2
Dengue Virus Infection	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
RNA processing	2
nuclear ribonucleoprotein granule	2
U5 snRNP	2
U2-type spliceosomal complex	2
U2 snRNP	2
RNA splicing, via transesterification reactions with bulged adenosine as nucleophile	1
mRNA processing	1
response to alkaloid	1
response to oxygen-containing compound	1
response to xenobiotic stimulus	1
cellular response to chemical stimulus	1
mRNA metabolic process	1
nucleic acid binding	1
ribonucleoside triphosphate phosphatase activity	1
guanyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
snRNA binding	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
binding	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
nuclear protein-containing complex	1
ribonucleoprotein complex	1
cytoplasm	1
U4/U6 snRNP	1
spliceosomal tri-snRNP complex	1
U1 snRNP	1
U4/U6 x U5 tri-snRNP complex	1
precatalytic spliceosome	1
U6 snRNP	1
catalytic step 2 spliceosome	1
Prp19 complex	1
spliceosomal complex	1
catalytic complex	1

Protein interactions and networks

STRING

6375 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
EFTUD2	SNRNP200	O75643	982
EFTUD2	PRPF8	Q6P2Q9	970
EFTUD2	SRRM2	Q9UQ35	916
EFTUD2	AAR2	Q9Y312	916
EFTUD2	PRPF6	O94906	847
EFTUD2	SF3B3	Q15393	844
EFTUD2	PRPF31	Q8WWY3	844
EFTUD2	SNRNP40	Q96DI7	834
EFTUD2	PRPF3	O43395	822
EFTUD2	SF3B1	O75533	821
EFTUD2	SF3A3	Q12874	810
EFTUD2	SF3B4	Q15427	803
EFTUD2	CDC5L	Q99459	783
EFTUD2	TXNL4A	P83876	782
EFTUD2	SF3B2	Q13435	778
EFTUD2	SNU13	P55769	778

IntAct

251 interactions, top by confidence:

A	B	Type	Score
EFTUD2	PRPF8	psi-mi:“MI:0915”(physical association)	0.900
PRPF8	EFTUD2	psi-mi:“MI:0915”(physical association)	0.900
EFTUD2	PRPF6	psi-mi:“MI:0915”(physical association)	0.880
EFTUD2	SNRNP40	psi-mi:“MI:0915”(physical association)	0.810
EFTUD2	SNRNP200	psi-mi:“MI:0915”(physical association)	0.790
SNRNP200	EFTUD2	psi-mi:“MI:0915”(physical association)	0.790
PRPF6	SNRNP200	psi-mi:“MI:0914”(association)	0.770
SNRPE	GEMIN2	psi-mi:“MI:0914”(association)	0.770
PRPF8	SNRNP200	psi-mi:“MI:0915”(physical association)	0.740
PRPF3	PRPF4	psi-mi:“MI:0914”(association)	0.730
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
SNRPD2	GEMIN2	psi-mi:“MI:0914”(association)	0.710
SNRPG	GEMIN2	psi-mi:“MI:0914”(association)	0.710
MYC	EFTUD2	psi-mi:“MI:0915”(physical association)	0.680
EFTUD2	MYC	psi-mi:“MI:0915”(physical association)	0.680
UBL5	SART1	psi-mi:“MI:0914”(association)	0.670
HSP90AA1	CHUK	psi-mi:“MI:0914”(association)	0.670
SNRPB	PRMT5	psi-mi:“MI:0914”(association)	0.670
HSF1	KPNA3	psi-mi:“MI:0914”(association)	0.640
NCBP2	KPNA3	psi-mi:“MI:0914”(association)	0.640
NCBP1	KPNA3	psi-mi:“MI:0914”(association)	0.640
PRPF8	PRPF4	psi-mi:“MI:0914”(association)	0.640
SF3B1	SAP18	psi-mi:“MI:0914”(association)	0.640

BioGRID (1845): EFTUD2 (Affinity Capture-MS), PRPF8 (Two-hybrid), EFTUD2 (Affinity Capture-RNA), EFTUD2 (Affinity Capture-MS), EFTUD2 (Affinity Capture-MS), EFTUD2 (Affinity Capture-MS), EFTUD2 (Affinity Capture-MS), EFTUD2 (Affinity Capture-MS), EFTUD2 (Affinity Capture-MS), EFTUD2 (Affinity Capture-MS), EFTUD2 (Affinity Capture-MS), EFTUD2 (Affinity Capture-MS), EFTUD2 (Affinity Capture-MS), EFTUD2 (Affinity Capture-MS), EFTUD2 (Affinity Capture-MS)

ESM2 similar proteins: A1JJ92, A1RH82, A3MYA2, A3QGT8, A4FUD3, A4TQJ9, A4W691, A5F904, A6QLJ3, A7FMI1, A7MUW8, A8FYR3, A8H733, A9R055, B0BRI9, B0TQ95, B0USE8, B1JL43, B1KRQ3, B2K3I2, B3GZM0, B4EWB0, B4RU35, B6ENF7, C3LSR4, C5BHI4, C6DJU6, F4JWP9, O08810, P43928, Q0I2G9, Q12QG7, Q15029, Q1C156, Q1CMZ7, Q2S9X0, Q3IHI5, Q487B0, Q5F3X4, Q5QXU1

Diamond homologs: A0B7D5, A0RW30, A0SXL6, A1RVX2, A3CXM8, A3DMV6, A3MSN3, A4FUD3, A4WMR8, A4YCV9, A5DI11, A5ULM6, A7I4X4, A8ACA7, B0R8C8, B1L7Q0, B1YE08, B6YVG5, B8D6B2, B8GJK8, C3MQ53, C3MVH1, C3N5S0, C3NED6, C3NHB6, C4KHE9, C4YJQ8, C5A6N7, C6A4M0, C7NYH7, D3E3N9, F4JWP9, O08810, O14460, O23755, O27131, O28385, O59521, O74945, O93632

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
EFTUD2	“form complex”	“U4/U6.U5 snRNP complex”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 208 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
Metabolism of non-coding RNA	8	33.4×	3e-09
mRNA Splicing - Minor Pathway	15	22.1×	8e-15
mRNA Splicing	28	20.2×	7e-27
mRNA Splicing - Major Pathway	49	17.6×	7e-46
Abortive elongation of HIV-1 transcript in the absence of Tat	5	16.3×	3e-04
Processing of Capped Intron-Containing Pre-mRNA	30	16.2×	5e-26
RNA Polymerase II Transcription Termination	10	14.4×	9e-08
mRNA Polyadenylation	23	13.3×	1e-17

GO biological processes:

GO term	Partners	Fold	FDR
spliceosomal tri-snRNP complex assembly	7	42.3×	2e-08
RNA splicing, via transesterification reactions	11	36.9×	1e-12
spliceosomal snRNP assembly	11	34.4×	2e-12
U2-type prespliceosome assembly	10	33.6×	4e-11
spliceosomal complex assembly	10	32.4×	5e-11
mRNA cis splicing, via spliceosome	5	26.6×	1e-04
regulation of mRNA splicing, via spliceosome	5	23.8×	2e-04
mRNA splicing, via spliceosome	45	22.2×	2e-45

Disease & clinical

Cancer significance

From intOGen — cancer-driver classification: activating (oncogene-like) across 1 cancer types — PCM.

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	99
Likely pathogenic	70
Uncertain significance	294
Likely benign	281
Benign	98

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1029804	NM_004247.4(EFTUD2):c.1331del (p.Gly444fs)	Pathogenic
1029805	NM_004247.4(EFTUD2):c.378del (p.Glu127fs)	Pathogenic
1175913	NM_004247.4(EFTUD2):c.1150-1G>T	Pathogenic
1364366	NM_004247.4(EFTUD2):c.702+1del	Pathogenic
1409617	NM_004247.4(EFTUD2):c.1920_1923dup (p.His642fs)	Pathogenic
1431432	NM_004247.4(EFTUD2):c.158del (p.Pro53fs)	Pathogenic
1433437	NM_004247.4(EFTUD2):c.1402dup (p.Cys468fs)	Pathogenic
1454611	NM_004247.4(EFTUD2):c.2562-2del	Pathogenic
1526579	GRCh37/hg19 17q21.31(chr17:42953220-42972444)	Pathogenic
1679931	NM_004247.4(EFTUD2):c.3G>T (p.Met1Ile)	Pathogenic
1693035	NM_004247.4(EFTUD2):c.1127C>G (p.Pro376Arg)	Pathogenic
1698725	NM_004247.4(EFTUD2):c.1719+1G>A	Pathogenic
1702966	NM_004247.4(EFTUD2):c.2199G>A (p.Trp733Ter)	Pathogenic
1703337	NM_004247.4(EFTUD2):c.1705C>T (p.Arg569Ter)	Pathogenic
1706532	NM_004247.4(EFTUD2):c.423del (p.Lys142fs)	Pathogenic
1804926	NM_004247.4(EFTUD2):c.509_519del (p.Ile170fs)	Pathogenic
2002395	NM_004247.4(EFTUD2):c.1888del (p.Leu630fs)	Pathogenic
203386	NM_004247.4(EFTUD2):c.764dup (p.Cys256fs)	Pathogenic
2100276	NM_004247.4(EFTUD2):c.1513C>T (p.Gln505Ter)	Pathogenic
210914	NM_004247.4(EFTUD2):c.1149+1G>C	Pathogenic
210915	NM_004247.4(EFTUD2):c.1297_1298del (p.Met433fs)	Pathogenic
2446031	NM_004247.4(EFTUD2):c.1012G>T (p.Glu338Ter)	Pathogenic
2498220	NM_004247.4(EFTUD2):c.593dup (p.Tyr198Ter)	Pathogenic
2506543	GRCh37/hg19 17q21.31(chr17:42929777-42937911)	Pathogenic
2581074	NM_004247.4(EFTUD2):c.2643_2649del (p.Phe881fs)	Pathogenic
265116	NM_004247.4(EFTUD2):c.2698_2701del (p.Val900fs)	Pathogenic
265311	NM_004247.4(EFTUD2):c.1860+2del	Pathogenic
2662935	NM_004247.4(EFTUD2):c.2330G>T (p.Gly777Val)	Pathogenic
2687899	NM_004247.4(EFTUD2):c.1421del (p.Leu474fs)	Pathogenic
2710262	NM_004247.4(EFTUD2):c.671G>T (p.Gly224Val)	Pathogenic

SpliceAI

3677 predictions. Top by Δscore:

Variant	Effect	Δscore
17:44851366:GGCC:G	acceptor_gain	1.0000
17:44851368:CC:C	acceptor_gain	1.0000
17:44851369:CC:C	acceptor_gain	1.0000
17:44851370:C:CC	acceptor_gain	1.0000
17:44851370:CTG:C	acceptor_loss	1.0000
17:44851371:T:A	acceptor_loss	1.0000
17:44851705:CATA:C	donor_loss	1.0000
17:44851706:ATACC:A	donor_loss	1.0000
17:44851707:TAC:T	donor_loss	1.0000
17:44851708:ACCTT:A	donor_gain	1.0000
17:44851709:C:G	donor_loss	1.0000
17:44851709:CCTTC:C	donor_gain	1.0000
17:44851712:T:A	donor_gain	1.0000
17:44851813:ACAAT:A	acceptor_gain	1.0000
17:44851814:CAAT:C	acceptor_gain	1.0000
17:44851814:CAATC:C	acceptor_gain	1.0000
17:44851815:AAT:A	acceptor_gain	1.0000
17:44851816:AT:A	acceptor_gain	1.0000
17:44851817:TCTAA:T	acceptor_loss	1.0000
17:44851818:C:CC	acceptor_gain	1.0000
17:44851818:CTAAA:C	acceptor_loss	1.0000
17:44852403:TCTCA:T	donor_loss	1.0000
17:44852404:CTCA:C	donor_loss	1.0000
17:44852405:TCA:T	donor_loss	1.0000
17:44852406:CA:C	donor_loss	1.0000
17:44852408:C:CT	donor_loss	1.0000
17:44852558:GCCCC:G	acceptor_gain	1.0000
17:44852559:CCCC:C	acceptor_gain	1.0000
17:44852559:CCCCC:C	acceptor_gain	1.0000
17:44852560:CCC:C	acceptor_gain	1.0000

AlphaMissense

6450 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:44851365:A:G	L943P	1.000
17:44851369:C:G	G942R	1.000
17:44851713:C:A	R940S	1.000
17:44851713:C:G	R940S	1.000
17:44851714:C:A	R940M	1.000
17:44851714:C:G	R940T	1.000
17:44851717:C:G	R939P	1.000
17:44851720:C:G	R938P	1.000
17:44851721:G:T	R938S	1.000
17:44851744:G:T	A930D	1.000
17:44852461:C:G	R888P	1.000
17:44852464:A:G	L887P	1.000
17:44852530:C:T	G865D	1.000
17:44852560:C:T	G855E	1.000
17:44852561:C:A	G855W	1.000
17:44852561:C:G	G855R	1.000
17:44852561:C:T	G855R	1.000
17:44853296:C:A	R854M	1.000
17:44853296:C:G	R854T	1.000
17:44853389:G:T	A823D	1.000
17:44853390:C:G	A823P	1.000
17:44853521:A:G	L821P	1.000
17:44853545:C:A	R813M	1.000
17:44853545:C:G	R813T	1.000
17:44854280:A:G	L779P	1.000
17:44854286:C:T	G777D	1.000
17:44854287:C:G	G777R	1.000
17:44854310:C:T	G769D	1.000
17:44854311:C:G	G769R	1.000
17:44854566:A:T	L750Q	1.000

dbSNP variants (sampled 300 via entrez): RS1000027322 (17:44882631 T>C), RS1000188945 (17:44888803 T>A,C), RS1000256102 (17:44877642 C>T), RS1000281618 (17:44871261 G>A), RS1000337987 (17:44854414 G>A), RS1000348735 (17:44894307 T>C,G), RS1000382466 (17:44890162 C>G), RS1000398052 (17:44871498 C>A,G), RS1000423862 (17:44894697 A>T), RS1000495182 (17:44865243 C>T), RS1000545149 (17:44859653 A>ACG), RS1000594635 (17:44858830 C>T), RS1000627959 (17:44877391 G>A), RS1000806640 (17:44894317 C>G), RS1000829265 (17:44852618 A>C)

Disease associations

OMIM: gene MIM:603892 | disease phenotypes: MIM:610536, MIM:610805, MIM:189960

GenCC curated gene-disease

Disease	Classification	Inheritance
mandibulofacial dysostosis-microcephaly syndrome	Definitive	Autosomal dominant

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
mandibulofacial dysostosis-microcephaly syndrome	Definitive	AD

Mondo (7): mandibulofacial dysostosis-microcephaly syndrome (MONDO:0012516), mandibulofacial dysostosis (MONDO:0015483), cleft lip/palate (MONDO:0016044), congenital anomaly of kidney and urinary tract (MONDO:0019719), esophageal atresia (MONDO:0001044), neurodevelopmental disorder (MONDO:0700092), esophageal atresia/tracheoesophageal fistula (MONDO:0008586)

Orphanet (6): Mandibulofacial dysostosis-microcephaly syndrome (Orphanet:79113), Genetic syndromic Pierre Robin syndrome (Orphanet:363294), Mandibulofacial dysostosis (Orphanet:155899), Cleft lip/palate (Orphanet:199306), Renal or urinary tract malformation (Orphanet:93545), Esophageal atresia (Orphanet:1199)

HPO phenotypes

46 total (30 of 46 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000175	Cleft palate
HP:0000191	Accessory oral frenulum
HP:0000243	Trigonocephaly
HP:0000252	Microcephaly
HP:0000253	Progressive microcephaly
HP:0000272	Malar flattening
HP:0000286	Epicanthus
HP:0000327	Hypoplasia of the maxilla
HP:0000347	Micrognathia
HP:0000356	Abnormality of the outer ear
HP:0000369	Low-set ears
HP:0000384	Preauricular skin tag
HP:0000396	Overfolded helix
HP:0000405	Conductive hearing impairment
HP:0000413	Atresia of the external auditory canal
HP:0000453	Choanal atresia
HP:0000463	Anteverted nares
HP:0000494	Downslanted palpebral fissures
HP:0000506	Telecanthus
HP:0000582	Upslanted palpebral fissure
HP:0000750	Delayed speech and language development
HP:0001177	Preaxial hand polydactyly
HP:0001238	Slender finger
HP:0001249	Intellectual disability
HP:0001250	Seizure
HP:0001263	Global developmental delay
HP:0001629	Ventricular septal defect
HP:0001631	Atrial septal defect
HP:0002002	Deep philtrum

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST004412_12	Craniofacial microsomia	9.000000e-06
GCST008916_39	Asthma	8.000000e-12

MeSH disease descriptors (6)

Descriptor	Name	Tree numbers
D004933	Esophageal Atresia	C06.198.330; C06.405.117.260; C16.131.314.330
D008342	Mandibulofacial Dysostosis	C05.116.099.370.231.576; C05.660.207.231.576; C11.270.147.750; C16.131.621.207.231.576
D065886	Neurodevelopmental Disorders	F03.625
C566906	Cakut (supp.)
C531835	Esophageal atresia with or without tracheoesophageal fistula (supp.)
C537405	Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL5725038 (SINGLE PROTEIN)

Molecules with ChEMBL bioactivity

1 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 1,538 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).

Molecule	Name	Phase	Patents
CHEMBL1232461	MOLIBRESIB	2	1,538

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

ChEMBL bioactivities

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

pChembl	Type	Value	Unit	Molecule
7.23	Kd	59.32	nM	CHEMBL5653589
7.23	ED50	59.32	nM	CHEMBL5653589
7.07	Kd	85	nM	MOLIBRESIB
6.97	Kd	108.2	nM	CHEMBL3752910
6.97	ED50	108.2	nM	CHEMBL3752910

PubChem BioAssay actives

3 with measured affinity, of 11 total; 3 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-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2148291: Binding affinity to human EFTUD2 incubated for 45 mins by Kinobead based pull down assay	kd	0.0593	uM
2-[(4S)-6-(4-chlorophenyl)-8-methoxy-1-methyl-4H-[1,2,4]triazolo[4,3-a][1,4]benzodiazepin-4-yl]-N-ethylacetamide	2179080: Binding affinity against EFTUD2 (unknown origin) assessed as apparent dissociation constant incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis	kd	0.0850	uM
4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2148291: Binding affinity to human EFTUD2 incubated for 45 mins by Kinobead based pull down assay	kd	0.1082	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	increases expression, affects cotreatment, decreases expression	2
sodium arsenite	decreases expression, increases expression	2
Particulate Matter	increases expression	2
FR900359	increases phosphorylation	1
TAK-243	decreases sumoylation	1
alpha-pinene	increases abundance, affects cotreatment, increases oxidation	1
beta-lapachone	decreases expression	1
tetrabromobisphenol A	decreases expression	1
methacrylaldehyde	increases abundance, affects cotreatment, increases oxidation	1
yessotoxin	decreases expression	1
4-phenylbutyric acid	decreases expression	1
2,3,5-(triglutathion-S-yl)hydroquinone	increases ADP-ribosylation	1
CGP 52608	affects binding, increases reaction	1
AM 251	decreases expression	1
nutlin 3	affects cotreatment, increases secretion	1
ICG 001	decreases expression	1
bisphenol B	increases expression	1
bisphenol S	increases expression	1
PP242	decreases expression	1
bisphenol AF	increases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	decreases expression	1
Resveratrol	increases phosphorylation	1
Acetaminophen	affects response to substance	1
Acrolein	affects cotreatment, increases oxidation, increases abundance	1
Air Pollutants	increases abundance, increases oxidation, affects cotreatment	1
Vehicle Emissions	increases expression	1
Benzo(a)pyrene	increases expression	1
Caffeine	decreases phosphorylation	1
Coumestrol	increases expression	1
Dactinomycin	affects cotreatment, increases secretion	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
CHEMBL5651333	Binding	Binding affinity to human EFTUD2 incubated for 45 mins by Kinobead based pull down assay	NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT04234971	PHASE4	RECRUITING	Cost Effectiveness in Alveolar Bone Grafting in Patients With Cleft Lip and Palate
NCT04771156	PHASE4	RECRUITING	Ketorolac in Palatoplasty
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,
NCT03766217	PHASE3	COMPLETED	Bone Tissue Engineering With Dental Pulp Stem Cells for Alveolar Cleft Repair
NCT06284434	PHASE3	RECRUITING	Liposomal Bupivacaine Use in Alveolar Bone Graft Patients
NCT00226044	PHASE3	COMPLETED	Rectal and Oral Omeprazole Treatment of Reflux Disease in Infants.
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
NCT00930124	PHASE2	COMPLETED	Cleft Orthognathic Surgery Versus Distraction Osteogenesis - Which is Better?
NCT03127345	PHASE2	WITHDRAWN	Omega 3 Fatty Acid Treatment for Pediatric Musculoskeletal Health
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
NCT04115345	PHASE1	COMPLETED	A Study of a Renal Autologous Cell Therapy (REACT) in Patients With Chronic Kidney Disease (CKD) From Congenital Anomalies of the Kidney and Urinary Tract (CAKUT).
NCT05694169	PHASE1	TERMINATED	A Study of Participants With Chronic Kidney Disease Previously Treated With REACT
NCT00503191	PHASE1	COMPLETED	NeuroModulation Technique Treatment of Autism
NCT04475848	PHASE1	COMPLETED	A Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Food Effect of RO6953958 in Healthy Participants
NCT06300398	PHASE1	COMPLETED	IAMA-6 Oral Dose Study in Healthy Adults
NCT06408337	PHASE1/PHASE2	RECRUITING	Phase I-IIa, to Evaluate the Safety, Feasibility, and Efficacy of the Use of BIOCLEFT in the Treatment of Cleft Palate.
NCT00070811	Not specified	COMPLETED	Assessing the Results of Lip Surgery in Patients With Cleft Lip and Palate
NCT00156442	Not specified	COMPLETED	A Study to Examine the Relationship Between Sleep Apnea and Cleft Lip/Palate
NCT01601171	Not specified	RECRUITING	Genetics of Reproductive Disorders (Including Kallmann Syndrome) and Cleft Lip and/or Palate
NCT01871623	Not specified	UNKNOWN	One-Piece Le Fort I Osteotomy Versus Segmental Le Fort I Osteotomy
NCT01932164	Not specified	COMPLETED	Use of Mesenchymal Stem Cells for Alveolar Bone Tissue Engineering for Cleft Lip and Palate Patients
NCT02702869	Not specified	ENROLLING_BY_INVITATION	Allied Cleft & Craniofacial Quality-Improvement and Research Network (ACCQUIREnet)
NCT02789787	Not specified	COMPLETED	Clinical Effectiveness of Late Maxillary Protraction for Cleft Lip and Palate
NCT02845193	Not specified	COMPLETED	Effect of Novel Nasoalveolar Molding Techniques on Parents’ Satisfaction and Short Term Treatment Outcomes in Unilateral Cleft Lip and Palate Infants: A Randomized Controlled Trial
NCT02881606	Not specified	COMPLETED	Evaluation of the Clinical Effectiveness of Naso-alveolar Molding (NAM) Versus Computer Aided Design NAM (CAD/NAM) in Infants With Bilateral Cleft Lip and Palate: A Randomized Clinical Trial
NCT03011489	Not specified	UNKNOWN	Parent’s Satisfaction and Evaluation of Postsurgical Outcomes in Unilateral Cleft Lip / Palate Newly Born Infants With / Without Vacuum Formed Nasoalveolar Molding Aligners : A Controlled Clinical Trial
NCT03065686	Not specified	RECRUITING	Identification of Genetic Factors Implicated in Orofacial Cleft Using Whole Exome Sequencing
NCT03165331	Not specified	UNKNOWN	Online Psychosocial Support for Young People With a Visible Difference: A Randomised Control Study
NCT03217890	Not specified	UNKNOWN	the Relationship Between Cleft Lip and / or Palate (Different Types) and ABO Blood Groups.
NCT03308266	Not specified	COMPLETED	Electromyographic Analysis of the Masticatory Muscles in Cleft Lip and Palate Children With Temporomandibular Disorders
NCT03395015	Not specified	COMPLETED	Efficacy of Maxillo-facial Treatment on Cleft Lip and Palate Patients Faces: Aesthetic Considerations
NCT03514563	Not specified	TERMINATED	Three Dimensional Facial Growth Analysis
NCT03563495	Not specified	COMPLETED	Tissue Engineered Constructs for Alveolar Cleft Repair
NCT03582111	Not specified	COMPLETED	Ultrasound Diagnosis of Cleft Lip and Palate