EEFSEC

Summary

EEFSEC (eukaryotic elongation factor, selenocysteine-tRNA specific, HGNC:24614) is a protein-coding gene on chromosome 3q21.3, encoding Selenocysteine-specific elongation factor (P57772). Translation factor required for the incorporation of the rare amino acid selenocysteine encoded by UGA codons. It is a selective cancer dependency (DepMap: 48.8% of cell lines).

Enables GTPase activity. Involved in selenocysteine incorporation. Predicted to be located in cytoplasm and nucleus. Predicted to be part of ribonucleoprotein complex.

Source: NCBI Gene 60678 — automated summary from GO annotations (Alliance of Genome Resources).

At a glance

• Gene–disease (curated): neurodevelopmental disorder (Strong, GenCC) — +1 more curated relationship
• GWAS associations: 139 (top 1% of genes corpus-wide)
• Clinical variants (ClinVar): 131 total — 2 pathogenic, 3 likely-pathogenic
• GTEx eGene: eQTL in 38 tissues, sQTL in 2 (q < 0.05)
• Phenotypes (HPO): 80
• Cancer dependency (DepMap): dependent in 48.8% of screened cell lines
• Constraint (gnomAD): pLI 0.00 (LoF-tolerant), LOEUF 1.34 (unconstrained)
• MANE Select transcript: NM_021937

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24614
Approved symbol	EEFSEC
Name	eukaryotic elongation factor, selenocysteine-tRNA specific
Location	3q21.3
Locus type	gene with protein product
Status	Approved
Aliases	SELB, EFSEC
Ensembl gene	ENSG00000132394
Ensembl biotype	protein_coding
OMIM	607695
Entrez	60678

Gene structure

Transcript identifiers

Ensembl transcripts: 21 — 16 protein_coding, 3 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined

MANE Select: ENST00000254730

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 1, TSL 3: 1, TSL 5: 2

ENST00000254730, ENST00000483457, ENST00000483569, ENST00000484438, ENST00000868106, ENST00000868107, ENST00000868108, ENST00000868109, ENST00000934138, ENST00000945661, ENST00000998545, ENST00000998546, ENST00001038391, ENST00001038392, ENST00001110385, ENST00001122113, ENST00001122114, ENST00001122115, ENST00001122116, ENST00001122117, ENST00001142888

RefSeq mRNA: 8 — MANE Select: NM_021937 NM_001437809, NM_001437810, NM_001437811, NM_001437812, NM_001437813, NM_001437814, NM_001437815, NM_021937

CCDS: CCDS33849

Canonical transcript exons

ENST00000254730 — 7 exons

Exon	Start	End
ENSE00000903888	128153481	128153823
ENSE00000903893	128358217	128358373
ENSE00001047553	128262128	128262224
ENSE00001177853	128341233	128341889
ENSE00001313311	128264617	128264781
ENSE00003573560	128408069	128408646
ENSE00003628405	128246836	128247043

Expression profiles

Bgee: expression breadth ubiquitous, 135 present calls, max score 89.30.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 8.9112 / max 107.6742, expressed in 1762 samples.

Highest expression (Bgee): apex of heart, heart left ventricle, gastrocnemius, hindlimb stylopod muscle, muscle of leg.

Genetic regulation across tissues (GTEx eQTL / sQTL)

EEFSEC is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 38 tissues and its splicing (sQTL) in 2 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

showing 20 of 40 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Nerve Tibial	eqtl	1.2e-20	-0.26	3:128146667:A:G
Testis	sqtl	3.0e-19	-0.77	3:128319530:C:A
Testis	eqtl	1.6e-18	+0.37	3:128011923:T:C
Brain Frontal Cortex BA9	eqtl	6.8e-16	+0.39	3:128137730:T:A
Skin Sun Exposed Lower leg	eqtl	1.1e-14	+0.24	3:128244348:G:C
Heart Left Ventricle	eqtl	2.2e-14	+0.29	3:128089659:C:G
Muscle Skeletal	eqtl	2.9e-14	-0.28	3:128185123:GTT:G
Adipose Subcutaneous	eqtl	5.9e-14	+0.23	3:128137730:T:A
Esophagus Muscularis	eqtl	2.0e-13	-0.28	3:128146667:A:G
Whole Blood	eqtl	2.9e-12	+0.12	3:128098665:C:T
Artery Tibial	sqtl	3.5e-12	+0.70	3:128168114:G:A
Heart Atrial Appendage	eqtl	2.0e-11	+0.27	3:128100219:G:C
Skin Not Sun Exposed Suprapubic	eqtl	5.5e-11	-0.25	3:128097590:T:C
Thyroid	eqtl	2.6e-10	-0.30	3:128153759:A:G
Brain Anterior cingulate cortex BA24	eqtl	1.2e-09	-0.40	3:128173194:T:C
Brain Cortex	eqtl	7.0e-09	+0.36	3:128137730:T:A
Artery Tibial	eqtl	2.4e-08	-0.18	3:128162770:G:A
Brain Spinal cord cervical c-1	eqtl	3.8e-08	-0.48	3:128146667:A:G
Cells Cultured fibroblasts	eqtl	1.5e-07	+0.18	3:128089972:A:G
Esophagus Mucosa	eqtl	1.9e-07	-0.26	3:128128832:C:T

FANTOM5 promoters

1 alternative TSS:

Promoter ID	TPM avg	Samples expressed
38436	8.9112	1762

Top tissues by expression

showing 100 of 135 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
apex of heart	UBERON:0002098	89.30	gold quality
heart left ventricle	UBERON:0002084	88.25	gold quality
gastrocnemius	UBERON:0001388	87.40	gold quality
hindlimb stylopod muscle	UBERON:0004252	86.75	gold quality
muscle of leg	UBERON:0001383	86.60	gold quality
granulocyte	CL:0000094	85.97	gold quality
heart	UBERON:0000948	85.54	gold quality
right lobe of liver	UBERON:0001114	85.52	gold quality
skeletal muscle tissue	UBERON:0001134	84.36	gold quality
left uterine tube	UBERON:0001303	84.36	gold quality
right atrium auricular region	UBERON:0006631	83.96	gold quality
popliteal artery	UBERON:0002250	83.84	gold quality
tibial artery	UBERON:0007610	83.82	gold quality
skin of leg	UBERON:0001511	83.65	gold quality
body of uterus	UBERON:0009853	83.47	gold quality
right testis	UBERON:0004534	83.46	gold quality
left testis	UBERON:0004533	83.25	gold quality
zone of skin	UBERON:0000014	83.23	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	83.21	gold quality
adult mammalian kidney	UBERON:0000082	83.21	gold quality
testis	UBERON:0000473	83.06	gold quality
ectocervix	UBERON:0012249	83.00	gold quality
tibial nerve	UBERON:0001323	82.95	gold quality
cortical plate	UBERON:0005343	82.93	gold quality
skin of abdomen	UBERON:0001416	82.88	gold quality
ganglionic eminence	UBERON:0004023	82.81	gold quality
left coronary artery	UBERON:0001626	82.73	gold quality
liver	UBERON:0002107	82.70	gold quality
muscle tissue	UBERON:0002385	82.67	gold quality
ascending aorta	UBERON:0001496	82.46	gold quality
endocervix	UBERON:0000458	82.44	gold quality
thoracic aorta	UBERON:0001515	82.43	gold quality
myometrium	UBERON:0001296	82.39	gold quality
right coronary artery	UBERON:0001625	82.37	gold quality
subcutaneous adipose tissue	UBERON:0002190	82.21	gold quality
right ovary	UBERON:0002118	82.20	gold quality
mucosa of transverse colon	UBERON:0004991	82.05	gold quality
lower esophagus muscularis layer	UBERON:0035833	81.88	gold quality
lower esophagus	UBERON:0013473	81.86	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	81.84	gold quality
placenta	UBERON:0001987	81.78	gold quality
prefrontal cortex	UBERON:0000451	81.69	gold quality
blood	UBERON:0000178	81.47	gold quality
spleen	UBERON:0002106	81.41	gold quality
descending thoracic aorta	UBERON:0002345	81.35	gold quality
cortex of kidney	UBERON:0001225	81.23	gold quality
ventricular zone	UBERON:0003053	81.21	gold quality
left ovary	UBERON:0002119	81.19	gold quality
adipose tissue	UBERON:0001013	81.16	gold quality
leukocyte	CL:0000738	81.12	gold quality
esophagus	UBERON:0001043	81.08	gold quality
vagina	UBERON:0000996	81.01	gold quality
kidney	UBERON:0002113	81.00	gold quality
ovary	UBERON:0000992	80.96	gold quality
muscle layer of sigmoid colon	UBERON:0035805	80.95	gold quality
fundus of stomach	UBERON:0001160	80.91	gold quality
body of stomach	UBERON:0001161	80.90	gold quality
fallopian tube	UBERON:0003889	80.85	gold quality
uterine cervix	UBERON:0000002	80.83	gold quality
monocyte	CL:0000576	80.82	gold quality
anatomical system	UBERON:0000467	80.82	gold quality
multicellular organism	UBERON:0000468	80.82	gold quality
esophagus mucosa	UBERON:0002469	80.74	gold quality
thoracic mammary gland	UBERON:0005200	80.64	gold quality
frontal cortex	UBERON:0001870	80.52	gold quality
prostate gland	UBERON:0002367	80.45	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	80.18	gold quality
stromal cell of endometrium	CL:0002255	80.15	gold quality
right lung	UBERON:0002167	80.06	gold quality
right lobe of thyroid gland	UBERON:0001119	79.96	gold quality
omental fat pad	UBERON:0010414	79.95	gold quality
right hemisphere of cerebellum	UBERON:0014890	79.89	gold quality
upper lobe of left lung	UBERON:0008952	79.76	gold quality
metanephros cortex	UBERON:0010533	79.59	gold quality
lower esophagus mucosa	UBERON:0035834	79.46	gold quality
lymph node	UBERON:0000029	79.45	gold quality
body of pancreas	UBERON:0001150	79.45	gold quality
cerebellum	UBERON:0002037	79.42	gold quality
stomach	UBERON:0000945	79.39	gold quality
cerebellar cortex	UBERON:0002129	79.36	gold quality
cerebellar hemisphere	UBERON:0002245	79.34	gold quality
transverse colon	UBERON:0001157	79.31	gold quality
colon	UBERON:0001155	79.30	gold quality
small intestine Peyer’s patch	UBERON:0003454	79.25	gold quality
right adrenal gland	UBERON:0001233	79.24	gold quality
right uterine tube	UBERON:0001302	79.12	gold quality
right frontal lobe	UBERON:0002810	79.10	gold quality
cerebral cortex	UBERON:0000956	79.03	gold quality
urinary bladder	UBERON:0001255	78.98	gold quality
smooth muscle tissue	UBERON:0001135	78.88	gold quality
left lobe of thyroid gland	UBERON:0001120	78.76	gold quality
small intestine	UBERON:0002108	78.72	gold quality
intestine	UBERON:0000160	78.70	gold quality
left adrenal gland	UBERON:0001234	78.65	gold quality
hypothalamus	UBERON:0001898	78.58	gold quality
minor salivary gland	UBERON:0001830	78.57	gold quality
saliva-secreting gland	UBERON:0001044	78.55	gold quality
mucosa of stomach	UBERON:0001199	78.53	gold quality
bone marrow	UBERON:0002371	78.51	gold quality
Brodmann (1909) area 9	UBERON:0013540	78.51	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.59

HPA expression

RNA tissue specificity: Low tissue specificity

showing 60 of 75 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM	Protein (IHC)
Cerebellum	tissue	13.0	not detected
Caudate putamen	tissue	12.9
Frontal cortex	tissue	12.3
Vagina	tissue	11.7	low
Hippocampal formation	tissue	11.4
Hypothalamus	tissue	10.5
Substantia nigra	tissue	10.5
Basal ganglia	tissue	10.4	not detected
Septum	tissue	10.4
Cerebral cortex	tissue	10.3	low
Somatosensory cortex	tissue	10.3
Midbrain	tissue	10.2
Olfactory bulb	tissue	10.1
Motor cortex	tissue	10.0
Amygdala	tissue	10.0
Ventral forebrain	tissue	10.0
Pons	tissue	9.9
Entorhinal cortex	tissue	9.8
Prefrontal cortex	tissue	9.7
Putamen	tissue	9.7
Spinal cord	tissue	9.7
Retrosplenial cortex	tissue	9.7
Medulla oblongata	tissue	9.6
Thalamus	tissue	9.6
Insular cortex	tissue	9.6
Superior colliculi	tissue	9.5
Retrosplenial and cingulate cortex	tissue	9.5
Periaqueductal gray	tissue	9.4
Temporal cortex	tissue	9.2
Corpus callosum	tissue	9.1
Occipital cortex	tissue	8.8
Pituitary gland	tissue	8.6
Skeletal muscle	tissue	4.5	not detected
Heart muscle	tissue	3.2	not detected
Skin 1	tissue	3.1	low
Small intestine	tissue	3.0	low
Parathyroid gland	tissue	2.8	not detected
Lymph node	tissue	2.1	not detected
Cervix	tissue	2.0	not detected
Liver	tissue	1.9	low
Seminal vesicle	tissue	1.8	low
Salivary gland	tissue	1.8	low
Kidney	tissue	1.6	medium
Placenta	tissue	1.5	medium
Fallopian tube	tissue	1.5	low
Colon	tissue	1.4	low
Pancreas	tissue	1.4	medium
Prostate	tissue	1.4	not detected
Ovary	tissue	1.3	medium
Thyroid gland	tissue	1.3	medium
Testis	tissue	1.2	low
Esophagus	tissue	1.2	medium
Adipose tissue	tissue	1.1	not detected
Tonsil	tissue	1.1	medium
Nucleus accumbens	tissue	1.0
Locus coeruleus	tissue	1.0
Hippocampus	tissue	1.0	not detected
Postcentral gyrus	tissue	1.0
Choroid plexus	tissue	0.9
Spleen	tissue	0.9	not detected

Brain sub-regions (HPA Brain Atlas): detected in 191; highest nTPM — Blood vessel (13.9), Ventral hippocampus (11.4), Subiculum (10.6), Dorsal hippocampus (10.5), Dorsal spinal cord (9.7).

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): ZNF143

miRNA regulators (miRDB)

Targeting EEFSEC by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

showing 30 of 38 miRNAs:

miRNA	Max score	Avg score	miRNA target_count
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-185-3P	99.95	67.01	1743
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-3065-3P	99.87	70.25	1407
HSA-MIR-6756-5P	99.82	67.97	2466
HSA-MIR-4729	99.69	72.18	4233
HSA-MIR-6766-5P	99.68	67.70	2325
HSA-MIR-10394-5P	99.65	66.83	1852
HSA-MIR-1205	99.65	66.76	1826
HSA-MIR-762	99.58	66.61	1994
HSA-MIR-486-3P	99.51	66.82	1901
HSA-MIR-4498	99.47	67.42	2360
HSA-MIR-1275	99.47	67.90	2749
HSA-MIR-6722-3P	99.45	67.62	1919
HSA-MIR-6731-5P	99.28	67.42	2375
HSA-MIR-8085	99.28	67.56	2362
HSA-MIR-4505	99.27	67.81	2678
HSA-MIR-5787	99.22	67.86	2628
HSA-MIR-6852-5P	99.17	66.69	2073
HSA-MIR-5001-5P	99.05	66.76	1972
HSA-MIR-1909-3P	99.03	66.56	1662
HSA-MIR-6829-5P	98.86	65.12	1480
HSA-MIR-6846-5P	98.81	65.86	1121
HSA-MIR-6848-5P	98.81	65.49	1126
HSA-MIR-4656	98.79	66.22	1306
HSA-MIR-384	98.71	67.34	1229
HSA-MIR-4463	98.56	66.05	1071

Functional genomics

gnomAD constraint: pLI 9.56e-16, LOEUF 1.34, missense Z 0.58 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD RMC): no regional variation along ENST00000254730 — one region, missense o/e 0.93. DepMap (CRISPR cell-line fitness): dependent in 48.8% of screened cell lines.

Most-dependent cell lines (DepMap gene-effect, lower = stronger; ≤ −0.5 shown): TC-71 (-3.205), MHH-ES-1 (-2.578), SU-DHL-8 (-2.265), OCI-LY-19 (-2.205), SU-DHL-5 (-2.118), 8-MG-BA (-2.05), SF126 (-1.933), OCI-AML2 (-1.79), SK-N-DZ (-1.724), BICR 10 (-1.643), SU-DHL-10 (-1.555), Y-79 (-1.498), OPM-2 (-1.497), L-428 (-1.457), JHOS-4 (-1.431).

Literature-anchored findings (GeneRIF, showing 6)

• SECIS binding induces a conformational change in SBP2 that recruits eEFSec, which in concert with the Sec incorporation domain gains access to the ribosomal A site (PMID:18948268)
• eEFSec employs a non-canonical mechanism involving the distinct C-terminal domain 4 for the release of the selenocysteinyl-tRNA during decoding on the ribosome (PMID:27708257)
• EEFSEC, which encodes selenocysteine-tRNA specific eukaryotic elongation factor, participates in the incorporation of selenocysteine into selenoproteins. Selenoproteins serve critical cellular homeostatic functions in maintaining redox status and antioxidant defenses, as well as modulating inflammatory responses. These physiologic functions have been linked to the parturition process and preterm birth. (PMID:28877031)
• In this genomewide association study, we found that variants at the EBF1, EEFSEC, AGTR2, WNT4, ADCY5, and RAP2C loci were associated with gestational duration and variants at the EBF1, EEFSEC, and AGTR2 loci with preterm birth. (PMID:28877031)
• [EEFSEC knockdown inhibits proliferation, migration and invasion of prostate cancer cells in vitro]. (PMID:35012909)
• Association of rs142548867 (EEFSEC) and periodontitis Grade C in a young Brazilian population. (PMID:37466550)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	eefsec	ENSDARG00000004696
mus_musculus	Eefsec	ENSMUSG00000033216
rattus_norvegicus	Eefsec	ENSRNOG00000012954
drosophila_melanogaster	eEFSec	FBGN0034627
caenorhabditis_elegans	efsc-1	WBGENE00008133

Paralogs (18): MTIF2 (ENSG00000085760), GTPBP1 (ENSG00000100226), EEF1A2 (ENSG00000101210), GSPT1 (ENSG00000103342), EFTUD2 (ENSG00000108883), HBS1L (ENSG00000112339), EIF2S3 (ENSG00000130741), EFL1 (ENSG00000140598), GUF1 (ENSG00000151806), EEF1A1 (ENSG00000156508), EIF5B (ENSG00000158417), GFM2 (ENSG00000164347), EEF2 (ENSG00000167658), GFM1 (ENSG00000168827), GTPBP2 (ENSG00000172432), TUFM (ENSG00000178952), EIF2S3B (ENSG00000180574), GSPT2 (ENSG00000189369)

Mouse-model phenotypes

Observed phenotypes of the mouse ortholog (MGI:2137092) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 2 distinct phenotype terms.

Mouse phenotype (MP)	Records
impaired righting response	1
preweaning lethality, complete penetrance	1

Additional cross-species homologs

Sequence homologs in species beyond Ensembl Compara’s model organisms, by Diamond local protein alignment (% sequence identity; best hit per species). Lower-identity rows are more distant homologs. The matched accessions’ gene symbols aren’t in biobtree yet, so each row shows the UniProt accession.

Organism	UniProt	Identity	Method
Halorubrum lacusprofundi ATCC 49239	B9LSM6	77.1%	Diamond
Methanocaldococcus jannaschii DSM 2661	Q57918	39.1%	Diamond

Genomic neighbors (locus context)

Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).

Symbol	Type	Entrez
SEC61A1	protein-coding	29927
RUVBL1	protein-coding	8607
RUVBL1-AS1	ncRNA	100874089
DNAJB8	protein-coding	165721
DNAJB8-AS1	ncRNA	285224
GATA2-AS1	ncRNA	101927167
GATA2	protein-coding	2624
KBTBD12	protein-coding	166348

Protein

Protein identifiers

Selenocysteine-specific elongation factor — P57772 (reviewed: P57772)

Alternative names: Elongation factor sec, Eukaryotic elongation factor, selenocysteine-tRNA-specific

All UniProt accessions (2): C9J8T0, P57772

UniProt curated annotations — full annotation on UniProt →

Function. Translation factor required for the incorporation of the rare amino acid selenocysteine encoded by UGA codons. Replaces the eRF1-eRF3-GTP ternary complex for the insertion of selenocysteine directed by the UGA codon. Insertion of selenocysteine at UGA codons is mediated by SECISBP2 and EEFSEC: SECISBP2 (1) specifically binds the SECIS sequence once the 80S ribosome encounters an in-frame UGA codon and (2) contacts the RPS27A/eS31 of the 40S ribosome before ribosome stalling. (3) GTP-bound EEFSEC then delivers selenocysteinyl-tRNA(Sec) to the 80S ribosome and adopts a preaccommodated state conformation. (4) After GTP hydrolysis, EEFSEC dissociates from the assembly, selenocysteinyl-tRNA(Sec) accommodates, and peptide bond synthesis and selenoprotein elongation occur.

Subcellular location. Cytoplasm. Nucleus.

Disease relevance. Neurodevelopmental disorder with progressive spasticity and brain abnormalities (NEDPSB) [MIM:621102] An autosomal recessive disorder with onset in infancy or early childhood, and characterized by global developmental delay with intellectual disability, poor or absent speech, progressive spasticity, ataxia, and seizures. Brain imaging primarily shows cerebral and/or cerebellar hypoplasia with delayed myelination, and progressive cerebellar atrophy in about half of patients. 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. SelB subfamily.

Isoforms (2)

UniProt ID	Names	Canonical?
P57772-1	1	yes
P57772-2	2

RefSeq proteins (8): NP_001424738, NP_001424739, NP_001424740, NP_001424741, NP_001424742, NP_001424743, NP_001424744, NP_068756* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000795	T_Tr_GTP-bd_dom	Domain
IPR004161	EFTu-like_2	Domain
IPR009000	Transl_B-barrel_sf	Homologous_superfamily
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR049393	eEFSec_III	Domain
IPR049394	eEFSec_C	Domain
IPR050055	EF-Tu_GTPase	Family

Pfam: PF00009, PF03144, PF21131, PF21208

Catalyzed reactions (Rhea)

• GTP + H2O = GDP + phosphate + H(+) (RHEA:19669)

UniProt features (98 total): strand 39, helix 15, binding site 13, region of interest 6, sequence variant 6, mutagenesis site 6, turn 4, modified residue 3, chain 1, domain 1, splice variant 1, sequence conflict 1, short sequence motif 1, compositionally biased region 1

Structure

Experimental structures (PDB)

4 structures by resolution:

PDB	Title	Method	Resolution (Å)
5IZL	The crystal structure of human eEFSec in complex with GDPCP	X-RAY DIFFRACTION	2.72
7ZJW	Rabbit 80S ribosome as it decodes the Sec-UGA codon	ELECTRON MICROSCOPY	2.8
5IZK	The crystal structure of human eEFSec in complex with GDP	X-RAY DIFFRACTION	3.25
5IZM	The crystal structure of human eEFSec in complex with GDPNP	X-RAY DIFFRACTION	3.4

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P57772-F1	79.98	0.28

Human Protein Atlas

Protein class: Predicted intracellular proteins

Protein evidence: Evidence at protein level

Subcellular location (HPA, imaging): nuclear bodies; nucleoplasm; cytosol

Antibody reliability (HPA): IH approved · IF approved

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 (13)

Position	Role
19	GDP
19	GTP
21	GDP
21	GTP
21	Mg(2+)
22	GDP
22	GTP
48	Mg(2+)
92	Mg(2+)
149	GDP
149	GTP
187	GDP
187	GTP

Post-translational modifications (3)

Type	Positions
Phosphoserine	537
Phosphothreonine	545
Omega-n-methylarginine	556

Mutagenesis-validated functional residues (6)

Position	Phenotype
96	abolished gtpase activity.
229	abolished ability to mediate insertion of selenocysteine.
230	abolished ability to mediate insertion of selenocysteine.
285	abolished ability to mediate insertion of selenocysteine.
583–584	does not affect ability to mediate insertion of selenocysteine.

Function

Pathways and Gene Ontology

Reactome pathways

0 curated (TAS) of 4; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

4 pathways:

ID	Pathway	Evidence
R-HSA-1430728	Metabolism	—
R-HSA-71291	Metabolism of amino acids and derivatives	—
R-HSA-2408522	Selenoamino acid metabolism	—
R-HSA-2408557	Selenocysteine synthesis	electronic

MSigDB gene sets: 269 (showing top): GOBP_TRANSLATION, GOBP_POST_TRANSCRIPTIONAL_REGULATION_OF_GENE_EXPRESSION, GOBP_TRANSLATIONAL_ELONGATION, chr3q21, GOBP_REGULATION_OF_TRANSLATION, GOCC_RIBONUCLEOPROTEIN_COMPLEX, SCGGAAGY_ELK1_02, GOMF_GTPASE_ACTIVITY, GOMF_MRNA_BINDING, GOMF_TRNA_BINDING, GOMF_TRANSLATION_ELONGATION_FACTOR_ACTIVITY, GOMF_HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES, GOMF_RIBONUCLEOPROTEIN_COMPLEX_BINDING, HSF2_01, GOBP_REGULATION_OF_PROTEIN_METABOLIC_PROCESS

GO Biological Process (2): selenocysteine incorporation (GO:0001514), translation (GO:0006412)

GO Molecular Function (8): tRNA binding (GO:0000049), translation elongation factor activity (GO:0003746), GTPase activity (GO:0003924), GTP binding (GO:0005525), selenocysteine insertion sequence binding (GO:0035368), ribonucleoprotein complex binding (GO:0043021), nucleotide binding (GO:0000166), hydrolase activity (GO:0016787)

GO Cellular Component (3): nucleus (GO:0005634), cytoplasm (GO:0005737), ribonucleoprotein complex (GO:1990904)

Reactome top-level categories

3 top-level categories:

Category	Pathways
Selenoamino acid metabolism	1
Metabolism of amino acids and derivatives	1
Metabolism	1

GO top-level categories

23 GO namespaces:

Category	Terms
translational elongation	2
translational readthrough	1
peptidyltransferase activity	1
translational initiation	1
translational termination	1
macromolecule biosynthetic process	1
protein metabolic process	1
protein biosynthetic process	1
RNA binding	1
translation factor activity	1
ribonucleoside triphosphate phosphatase activity	1
guanyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
anion binding	1
mRNA binding	1
protein-containing complex binding	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
catalytic activity	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
cellular anatomical structure	1
protein-containing complex	1

Experimentally-supported GO annotations

GO terms backed by direct experimental evidence (ECO experimental codes) — 2 of 13 annotations. The rest are phylogenetic / computational / electronic (IEA).

2 experimentally-supported GO terms:

GO term	NS	Evidence
selenocysteine incorporation	BP	direct assay
GTPase activity	MF	direct assay

Protein interactions and networks

STRING

showing 15 of 1,247 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
EEFSEC	SECISBP2	Q96T21	994
EEFSEC	PSTK	Q8IV42	988
EEFSEC	SEPHS1	P49903	858
EEFSEC	SEPSECS	Q9HD40	852
EEFSEC	TRNAU1AP	Q9NX07	827
EEFSEC	SARS1	P49591	824
EEFSEC	SEPHS2	Q99611	824
EEFSEC	SARS2	Q9NP81	813
EEFSEC	M0R2C6	M0R2C6	812
EEFSEC	SELENOS	Q9BQE4	717
EEFSEC	SELENOT	P62341	713
EEFSEC	SELENON	Q9NZV5	692
EEFSEC	SELENOF	O60613	686
EEFSEC	SCLY	Q96I15	683
EEFSEC	SELENOO	Q9BVL4	681

IntAct

Human interaction partners of EEFSEC in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

2 partners by confidence:

Partner	Interaction type	MIscore	Records
HSPA8	association	0.350	1
SOX17	association	0.350	1

BioGRID (69 interactions; top human partners by supporting records): KRAS (Synthetic Lethality; 2 records), NUDT21 (Affinity Capture-RNA; 2 records), ANKRD11 (Affinity Capture-MS), ATG16L1 (Affinity Capture-MS), BCAT1 (Co-fractionation), CAMSAP1 (Cross-Linking-MS (XL-MS)), CD6 (Affinity Capture-MS), CEBPA (Protein-peptide), CLUH (Co-fractionation), DDRGK1 (Affinity Capture-MS), DDX39A (Affinity Capture-RNA), DYNLT1 (Co-fractionation), EFTUD2 (Co-fractionation), EGFR (Negative Genetic), ENG (Affinity Capture-MS)

Disease & clinical

Genetic variants

Variant evidence for EEFSEC: 131 ClinVar records (5 pathogenic / likely pathogenic); 139 GWAS associations. Per-variant detail is on Sugi Variant.

ClinVar

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

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	3
Uncertain significance	104
Likely benign	7
Benign	4

Top pathogenic / likely-pathogenic (5)

Showing all 5 pathogenic / likely-pathogenic ClinVar records, ranked by ClinVar review status (expert panel → multiple submitters → single submitter), then by number of submitting labs.

Variant ID	HGVS	Classification	Review	Submitters
3067139	NM_021937.5(EEFSEC):c.1751_1752dup (p.Val585fs)	Likely pathogenic	criteria provided, single submitter	2
3067138	NM_021937.5(EEFSEC):c.1169A>C (p.Asp390Ala)	Likely pathogenic	criteria provided, single submitter	1
4856243	NM_021937.5(EEFSEC):c.1540G>T (p.Glu514Ter)	Likely pathogenic	criteria provided, single submitter	1
3764735	NM_021937.5(EEFSEC):c.1A>G (p.Met1Val)	Pathogenic	no assertion criteria provided	1
3764738	NM_021937.5(EEFSEC):c.1278C>A (p.Cys426Ter)	Pathogenic	no assertion criteria provided	1

Per-variant reference — Sugi Variant

Explore EEFSEC’s pathogenic and likely-pathogenic variants individually — each with its ClinVar classification and conditions, applied ACMG criteria (ClinGen expert panel, where curated), the calibrated in-silico predictors (AlphaMissense, REVEL, SaProt, conservation), gnomAD frequency, and the predictor-disagreement QC signal — on Sugi Variant.

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 28 predictions of 1,546):

Position(s)	Effect	Δscore	Sites
3:128246834–128246835	acceptor_loss	1.0000	5
3:128246835	acceptor_gain	1.0000
3:128246981	donor_gain	1.0000
3:128262225–128262226	donor_loss	1.0000	5
3:128341232	acceptor_loss	1.0000
3:128358201	acceptor_gain	1.0000
3:128358374–128358375	donor_loss	1.0000	3
3:128408067–128408068	acceptor_loss	1.0000	4
3:128153824–128153825	donor_loss	0.9900	6
3:128246830	acceptor_gain	0.9900

AlphaMissense

1,480 missense substitutions predicted likely pathogenic (of 3,898 scored), across 352 residues. Top 20 hotspot residues, ranked by the number of likely-pathogenic substitutions (of those reachable by a single-nucleotide change), then by mean score:

Residue	Likely-pathogenic substitutions	Mean am_pathogenicity	Max am_pathogenicity
D92	8	0.998	0.999
H96	8	0.998	1.000
D17	8	0.994	0.997
D229	8	0.991	0.998
H15	8	0.990	0.998
D50	8	0.990	0.995
H230	8	0.988	0.998
D37	8	0.987	0.995
F53	8	0.983	1.000
F232	8	0.981	1.000
F522	8	0.978	0.999
F36	8	0.971	0.993
D111	8	0.968	0.996
H336	8	0.967	0.997
F494	8	0.963	0.993
D118	8	0.952	0.983
F503	8	0.950	0.995
F581	8	0.918	0.992
S42	8	0.912	0.994
D149	8	0.909	0.949

HPA cancer prognostics

RNA cancer specificity: Low cancer specificity

Human Protein Atlas survival analysis — favorable = higher expression predicts better survival.

2 prognostic cancer types:

Cancer	Prognostic	p-value
Lung Adenocarcinoma (TCGA)	favorable	0.000144
Rectum Adenocarcinoma (TCGA)	favorable	0.000221

Disease associations

OMIM: gene MIM:607695 | disease phenotypes: MIM:249500, MIM:613668, MIM:621102

GenCC curated gene-disease

2 curated gene-disease records:

Disease	Classification	Inheritance	Records
neurodevelopmental disorder	Strong	Autosomal recessive
neurodevelopmental disorder with progressive spasticity and brain abnormalities	Limited	Autosomal recessive

Genomics England panels (PanelApp)

Clinical diagnostic gene panels including this gene (9 panels, 9 green/diagnostic-grade). Confidence: green = diagnostic, amber = moderate.

9 panels:

Panel	Rating
Ataxia and cerebellar anomalies - childhood onset	green
Early onset or syndromic epilepsy	green
Fetal anomalies	green
Hereditary ataxia and cerebellar anomalies, childhood onset	green
Hypotonic infant	green
Intellectual disability	green
Leukodystrophy, childhood onset	green
Paediatric disorders	green
Unexplained death in infancy and sudden unexplained death in childhood	green

Mondo (4): autosomal recessive non-syndromic intellectual disability (MONDO:0019502), infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly (MONDO:0013351), neurodevelopmental disorder with progressive spasticity and brain abnormalities (MONDO:0976233), neurodevelopmental disorder (MONDO:0700092)

Orphanet (2): Autosomal recessive non-syndromic intellectual disability (Orphanet:88616), Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly (Orphanet:402364)

HPO phenotypes

showing 60 of 80 phenotypes (HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000218	High palate
HP:0000219	Thin upper lip vermilion
HP:0000252	Microcephaly
HP:0000276	Long face
HP:0000347	Micrognathia
HP:0000365	Hearing impairment
HP:0000400	Macrotia
HP:0000486	Strabismus
HP:0000505	Visual impairment
HP:0000568	Microphthalmia
HP:0000609	Optic nerve hypoplasia
HP:0000639	Nystagmus
HP:0000641	Dysmetric saccades
HP:0000657	Oculomotor apraxia
HP:0000666	Horizontal nystagmus
HP:0000750	Delayed speech and language development
HP:0000767	Pectus excavatum
HP:0001159	Syndactyly
HP:0001250	Seizure
HP:0001252	Hypotonia
HP:0001257	Spasticity
HP:0001260	Dysarthria
HP:0001263	Global developmental delay
HP:0001270	Motor delay
HP:0001272	Cerebellar atrophy
HP:0001317	Abnormal cerebellum morphology
HP:0001321	Cerebellar hypoplasia
HP:0001347	Hyperreflexia
HP:0001382	Joint hypermobility
HP:0001511	Intrauterine growth retardation
HP:0001623	Breech presentation
HP:0001643	Patent ductus arteriosus
HP:0001684	Secundum atrial septal defect
HP:0001762	Talipes equinovarus
HP:0001945	Fever
HP:0001999	Abnormal facial shape
HP:0002015	Dysphagia
HP:0002059	Cerebral atrophy
HP:0002061	Lower limb spasticity
HP:0002066	Gait ataxia
HP:0002069	Bilateral tonic-clonic seizure
HP:0002080	Intention tremor
HP:0002104	Apnea
HP:0002131	Episodic ataxia
HP:0002133	Status epilepticus
HP:0002164	Nail dysplasia
HP:0002342	Moderate intellectual disability
HP:0002376	Developmental regression
HP:0002384	Focal impaired awareness seizure
HP:0002445	Tetraplegia
HP:0002804	Arthrogryposis multiplex congenita
HP:0002808	Kyphosis
HP:0003128	Lactic acidosis
HP:0003259	Elevated circulating creatinine concentration
HP:0003390	Sensory axonal neuropathy
HP:0003577	Congenital onset
HP:0004209	Clinodactyly of the 5th finger
HP:0005484	Secondary microcephaly
HP:0006829	Severe muscular hypotonia

GWAS associations

showing 30 of 139 associations:

Study	Trait	p-value
GCST007431_115	Lung function (FEV1/FVC)	7e-32
GCST002563_5	Hypospadias	1e-26
GCST90002404_476	Red cell distribution width	5e-18
GCST007692_23	Chronic obstructive pulmonary disease	4e-15
GCST004899_7	Gestational age at birth (maternal effect)	9e-15
GCST007800_97	Asthma (childhood onset)	4e-14
GCST004147_17	Chronic obstructive pulmonary disease	4e-13
GCST004898_1	Preterm birth (maternal effect)	2e-12
GCST90002393_369	Monocyte count	4e-12
GCST90002401_427	Platelet distribution width	1e-11
GCST004185_26	Lung function (FEV1/FVC)	6e-11
GCST002541_2	Menarche (age at onset)	1e-10
GCST007611_14	Chronic obstructive pulmonary disease or high blood pressure (pleiotropy)	9e-10
GCST010043_140	Asthma	5e-9
GCST010042_121	Asthma	6e-9
GCST007432_150	FEV1	2e-8
GCST011320_12	Type 2 diabetes or prostate cancer (pleiotropy)	2e-8
GCST007656_9	Chronic obstructive pulmonary disease or resting heart rate (pleiotropy)	4e-8
GCST000880_4	Menarche (age at onset)	1e-7
GCST003262_1068	Post bronchodilator FEV1	2e-7
GCST003262_310	Post bronchodilator FEV1	2e-7
GCST003262_316	Post bronchodilator FEV1	2e-7
GCST003262_1139	Post bronchodilator FEV1	4e-7
GCST003262_1140	Post bronchodilator FEV1	4e-7
GCST003262_1141	Post bronchodilator FEV1	4e-7
GCST003262_325	Post bronchodilator FEV1	4e-7
GCST003264_1121	Post bronchodilator FEV1/FVC ratio	4e-7
GCST003262_434	Post bronchodilator FEV1	5e-7
GCST003264_1468	Post bronchodilator FEV1/FVC ratio	5e-7
GCST007797_45	Asthma onset (childhood vs adult)	5e-7

EFO canonical traits (from GWAS)

11 canonical traits:

EFO ID	Trait name
EFO:0004703	age at menarche
EFO:0004314	forced expiratory volume
EFO:0004713	FEV/FVC ratio
EFO:0003917	premature birth
EFO:0005939	parental genotype effect measurement
EFO:0005112	gestational age
EFO:0004847	age at onset
EFO:0003892	pulmonary function measurement
EFO:0005091	monocyte count
EFO:0007984	platelet component distribution width
EFO:0009188	Red cell distribution width

MeSH disease descriptors

1 disease descriptors:

Descriptor	Name	Tree numbers
D065886	Neurodevelopmental Disorders	F03.625

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (CPIC guideline: no)

CTD chemical–gene interactions

28 total (human), top 28 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	decreases expression	3
Valproic Acid	affects expression, decreases methylation, increases expression	3
sodium arsenite	decreases expression, increases expression	2
Aflatoxin B1	affects expression, decreases methylation	2
aristolochic acid I	decreases expression	1
potassium perchlorate	decreases expression	1
2-methyl-4-isothiazolin-3-one	decreases expression	1
beta-lapachone	increases expression	1
butyraldehyde	decreases expression	1
tetrabromobisphenol A	decreases expression	1
aflatoxin B2	decreases methylation	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	increases expression	1
CGP 52608	affects binding, increases reaction	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
pentabrominated diphenyl ether 100	decreases expression	1
hexabrominated diphenyl ether 153	decreases expression	1
(+)-JQ1 compound	increases expression	1
Arsenic Trioxide	decreases response to substance	1
Arsenic	affects methylation	1
Cisplatin	decreases expression	1
Doxorubicin	decreases expression	1
Ivermectin	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Tretinoin	decreases expression	1
Urethane	decreases expression	1
Cadmium Chloride	decreases expression	1
Okadaic Acid	decreases expression	1

Clinical trials (associated diseases)

Via MONDO — disease-level, not drug-specific.

showing 60 of 210 trials:

NCT	Phase	Status	Title
NCT04586348	Phase 4	UNKNOWN	Prenatal Iodine Supplementation and Early Childhood Neurodevelopment
NCT04873115	Phase 4	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,
NCT02559102	Phase 3	COMPLETED	Dexmedetomidine Sedation Versus General Anaesthesia for Inguinal Hernia Surgery in Infants
NCT02757079	Phase 3	COMPLETED	Study of the Efficacy and Safety of NPC-15 for Sleep Disorders of Children With Neurodevelopmental Disorders
NCT06915480	Phase 3	RECRUITING	Reducing Missed Appointments
NCT07377032	Phase 3	RECRUITING	TAP-GRIN: Interventional Study on Patients With GRIN-related Neurodevelopmental Disorders
NCT02909959	Phase 2	COMPLETED	Sulforaphane for the Treatment of Young Men With Autism Spectrum Disorder
NCT06081348	Phase 2	RECRUITING	Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders
NCT06352372	Phase 2	COMPLETED	Safety and Efficacy of tPBM for Epileptiform Activity in Autism
NCT00503191	Phase 1	COMPLETED	NeuroModulation Technique Treatment of Autism
NCT04475848	Phase 1	COMPLETED	A Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Food Effect of RO6953958 in Healthy Participants
NCT06300398	Phase 1	COMPLETED	IAMA-6 Oral Dose Study in Healthy Adults
NCT01783041	Phase 2/3	COMPLETED	Effect of Early L-Carnitine Supplementation on Neurodevelopmental Outcomes in Very Preterm Infants
NCT05767385	Phase 2/3	COMPLETED	Fetal Cerebrovascular Autoregulation in Congenital Heart Disease and Association With Neonatal Neurobehavior
NCT05675098	Early Phase 1	NOT_YET_RECRUITING	Central Nervous System Stimulants and Physical Function in Children With Cerebral Palsy
NCT00783783	Not specified	COMPLETED	CYP2D6 Pharmacogenetics in Risperidone-Treated Children
NCT01778504	Not specified	RECRUITING	Studying Childhood-onset Behavioral, Psychiatric, and Developmental Disorders
NCT01850784	Not specified	UNKNOWN	High Energy Formula Feeding in Infants With Congenital Heart Disease
NCT01922791	Not specified	COMPLETED	Nutrition and Pregnancy Intervention Study
NCT01942525	Not specified	UNKNOWN	Influence of Intrauterine Growth Restriction on Amplitude-integrated EEG in Preterm Infants
NCT02003170	Not specified	COMPLETED	Etiology and Early Diagnosis of Neurodevelopmental Disorders
NCT02118649	Not specified	COMPLETED	Enhancing Behavior and Brain Response to Visual Targets Using a Computer Game
NCT02557191	Not specified	TERMINATED	Biomarkers, Neurodevelopment and Preterm Infants
NCT02690675	Not specified	COMPLETED	Iron Supplement Effect on Child Development
NCT02694003	Not specified	COMPLETED	Better Nights, Better Days for Children With Neurodevelopment Disorders
NCT02792894	Not specified	COMPLETED	Family Networks (FaNs) for Children With Developmental Disorders and Delays
NCT02871674	Not specified	UNKNOWN	Good Night Project: Behavioural Sleep Interventions for Children With ADHD: A Randomised Controlled Trial
NCT02887157	Not specified	COMPLETED	Analyzing Retinal Microanatomy in ROP
NCT02898298	Not specified	COMPLETED	Positive Emotion Regulation Training in Children, Adolescents and Young Adults With and Without Developmental Disorder
NCT02912780	Not specified	UNKNOWN	Introduction of Microsystems in a Level 3 Neonatal Intensive Care Unit
NCT03023293	Not specified	COMPLETED	n-3 PUFAs, Irisin and Maternal Glucose Metabolism From Pregnancy to Postpartum
NCT03023644	Not specified	COMPLETED	Improving Neurodevelopmental Outcomes in Children With Congenital Heart Disease: An Intervention Study
NCT03032991	Not specified	UNKNOWN	Early Biomarkers of Neurodevelopment in Offspring of Diabetic Mothers
NCT03088189	Not specified	TERMINATED	Effect of Parental Peri-conceptional Vitamin B12 Supplementation on Infant Neurocognitive Development in Offspring
NCT03096028	Not specified	COMPLETED	Developmental Origins of Mental Health Disorders
NCT03148782	Not specified	COMPLETED	Brain Plasticity Underlying Acquisition of New Organizational Skills in Children-R61 Phase
NCT03172104	Not specified	COMPLETED	Neurobehavioural Development of Infants Born <30 Weeks Gestational Age Between Birth and Five Years of Age
NCT03222375	Not specified	RECRUITING	SQUED™ Series 28.1 Home-use and Treatment of Autowave Reverberator of Autism
NCT03229928	Not specified	COMPLETED	Clinical Testing of a Real-Time Behavior Measurement Tool: Measuring Outcomes for CHAnge
NCT03232489	Not specified	UNKNOWN	Study for the Evaluation of the Feasibility of Applying Advanced MRI Scanning in Pediatric Clinical Practice
NCT03381027	Not specified	COMPLETED	BABY SMART (Study of Massage Therapy, Sleep And neurodevelopMenT)
NCT03388294	Not specified	COMPLETED	Evaluation of a Novel Intervention for Infants At Risk for Neurodevelopmental Disorders
NCT03410810	Not specified	UNKNOWN	Childhood Outcomes of Preterm Brain Abnormalities
NCT03492060	Not specified	RECRUITING	Longitudinal Study of Neurogenetic Disorders
NCT03577756	Not specified	COMPLETED	Neurodevelopmental Assessment of Infants With Cystic Fibrosis
NCT03654248	Not specified	COMPLETED	Let’s Get Organized in Adult Psychiatric/habilitation Care
NCT03659279	Not specified	COMPLETED	Let’s Get Organized Feasibility Study
NCT03722615	Not specified	COMPLETED	Epidemiology of Congenital Cytomegalovirus in a High HIV Prevalence Setting, South Africa
NCT03770832	Not specified	ACTIVE_NOT_RECRUITING	Wearable Sensors and Video Recordings to Monitor Motor Development
NCT03830879	Not specified	RECRUITING	Shenzhen Birth Cohort Study
NCT03835689	Not specified	COMPLETED	Strongest FamiliesTM Neurodevelopmental
NCT03882788	Not specified	COMPLETED	The Effect of Anesthesia on Neurodevelopmental Outcome (NDO)
NCT03922087	Not specified	COMPLETED	No-worry Baby Project
NCT03977259	Not specified	ACTIVE_NOT_RECRUITING	Targeting Human Milk Fortification to Improve Preterm Infant Growth and Brain Development
NCT04043572	Not specified	UNKNOWN	The Biomarkers of Neurological Disease in Utero Study
NCT04096430	Not specified	RECRUITING	Evaluation of Effectiveness of Child-oriented Goal-setting in Paediatric Rehabilitation (the ENGAGE Approach)
NCT04108273	Not specified	COMPLETED	Brain Plasticity Underlying Acquisition of New Organizational Skills in Children
NCT04201509	Not specified	COMPLETED	Validity of Neurocognitive Assessment Methods in Childhood ADHD
NCT04233775	Not specified	UNKNOWN	Altered Cerebral Growth and Development in Infants With Congenital Heart Disease
NCT04313283	Not specified	COMPLETED	Translating Peer-to-Peer Support Into a Clinical Setting