FCSK

Summary

FCSK (fucose kinase, HGNC:29500) is a protein-coding gene on chromosome 16q22.1, encoding L-fucose kinase (Q8N0W3). Takes part in the salvage pathway for reutilization of fucose from the degradation of oligosaccharides.

The protein encoded by this gene belongs to the GHMP (galacto-, homoserine, mevalonate and phosphomevalonate) kinase family and catalyzes the phosphorylation of L-fucose to form beta-L-fucose 1-phosphate. This enzyme catalyzes the first step in the utilization of free L-fucose in glycoprotein and glycolipid synthesis. L-fucose may be important in mediating a number of cell-cell interactions such as blood group antigen recognition, inflammation, and metastatis. While several transcript variants may exist for this gene, the full-length nature of only one has been described to date.

Source: NCBI Gene 197258 — RefSeq curated summary.

At a glance

• Gene–disease (curated): congenital disorder of glycosylation with defective fucosylation 2 (Strong, GenCC)
• GWAS associations: 6
• Clinical variants (ClinVar): 690 total — 6 likely-pathogenic
• Phenotypes (HPO): 25
• MANE Select transcript: NM_145059

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29500
Approved symbol	FCSK
Name	fucose kinase
Location	16q22.1
Locus type	gene with protein product
Status	Approved
Aliases	FLJ39408
Ensembl gene	ENSG00000157353
Ensembl biotype	protein_coding
OMIM	608675
Entrez	197258

Gene structure

Transcript identifiers

Ensembl transcripts: 23 — 17 protein_coding, 5 retained_intron, 1 nonsense_mediated_decay

ENST00000288078, ENST00000378912, ENST00000464499, ENST00000485034, ENST00000498702, ENST00000571487, ENST00000571514, ENST00000572784, ENST00000573352, ENST00000573832, ENST00000574784, ENST00000576107, ENST00000576453, ENST00000864946, ENST00000864947, ENST00000864948, ENST00000864949, ENST00000864950, ENST00000864951, ENST00000864952, ENST00000864953, ENST00000864954, ENST00000963837

RefSeq mRNA: 1 — MANE Select: NM_145059 NM_145059

CCDS: CCDS10891

Canonical transcript exons

ENST00000288078 — 24 exons

Exon	Start	End
ENSE00001368672	70454595	70454630
ENSE00002433486	70474528	70474694
ENSE00002441459	70466882	70466954
ENSE00002446547	70469152	70469323
ENSE00002500285	70467374	70467471
ENSE00003464765	70475350	70475493
ENSE00003478730	70468849	70468968
ENSE00003480807	70479180	70479403
ENSE00003495182	70479579	70480274
ENSE00003507550	70470314	70470426
ENSE00003539686	70463623	70463774
ENSE00003545259	70475648	70475767
ENSE00003553532	70478272	70478459
ENSE00003554256	70472541	70472605
ENSE00003567294	70474790	70475011
ENSE00003569179	70474129	70474339
ENSE00003590236	70463169	70463272
ENSE00003596286	70467886	70467966
ENSE00003612775	70472983	70473353
ENSE00003632442	70471182	70471352
ENSE00003640701	70470971	70471072
ENSE00003647738	70465126	70465176
ENSE00003663472	70478551	70478650
ENSE00003670880	70466132	70466257

Expression profiles

Bgee: expression breadth ubiquitous, 210 present calls, max score 92.74.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 4.2417 / max 59.3413, expressed in 1602 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
154876	4.2417	1602

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
ileal mucosa	UBERON:0000331	92.74	silver quality
right hemisphere of cerebellum	UBERON:0014890	89.67	gold quality
cerebellar hemisphere	UBERON:0002245	89.26	gold quality
cerebellar cortex	UBERON:0002129	89.10	gold quality
pituitary gland	UBERON:0000007	88.86	gold quality
mucosa of transverse colon	UBERON:0004991	88.74	gold quality
cerebellum	UBERON:0002037	88.37	gold quality
adenohypophysis	UBERON:0002196	88.33	gold quality
metanephros cortex	UBERON:0010533	88.17	gold quality
right lobe of thyroid gland	UBERON:0001119	87.90	gold quality
right uterine tube	UBERON:0001302	87.87	gold quality
transverse colon	UBERON:0001157	87.42	gold quality
apex of heart	UBERON:0002098	87.38	gold quality
small intestine Peyer’s patch	UBERON:0003454	86.98	gold quality
left lobe of thyroid gland	UBERON:0001120	86.77	gold quality
kidney epithelium	UBERON:0004819	86.66	silver quality
body of pancreas	UBERON:0001150	86.65	gold quality
small intestine	UBERON:0002108	86.26	gold quality
thyroid gland	UBERON:0002046	86.15	gold quality
granulocyte	CL:0000094	86.12	gold quality
right adrenal gland	UBERON:0001233	85.72	gold quality
left ovary	UBERON:0002119	85.63	gold quality
right adrenal gland cortex	UBERON:0035827	85.52	gold quality
right ovary	UBERON:0002118	85.44	gold quality
body of stomach	UBERON:0001161	85.27	gold quality
pancreatic ductal cell	CL:0002079	85.16	silver quality
right lobe of liver	UBERON:0001114	85.12	gold quality
skin of leg	UBERON:0001511	85.09	gold quality
left adrenal gland	UBERON:0001234	84.84	gold quality
left adrenal gland cortex	UBERON:0035825	84.82	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.61
E-CURD-112	no	2.53

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

25 targeting FCSK, 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-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-34C-5P	99.97	70.45	1577
HSA-MIR-449B-5P	99.97	70.26	1580
HSA-MIR-6756-5P	99.82	67.97	2466
HSA-MIR-4658	99.77	64.94	514
HSA-MIR-6790-5P	99.77	65.24	505
HSA-MIR-92A-2-5P	99.75	67.01	2164
HSA-MIR-6134	99.63	65.68	1537
HSA-MIR-4753-5P	99.54	68.51	1356
HSA-MIR-6833-5P	99.50	68.93	1161
HSA-MIR-516A-3P	99.46	67.96	1378
HSA-MIR-516B-3P	99.46	67.96	1378
HSA-MIR-7162-5P	99.46	68.08	1368
HSA-MIR-19A-5P	99.36	66.93	1675
HSA-MIR-19B-1-5P	99.36	67.07	1669
HSA-MIR-19B-2-5P	99.36	67.07	1669
HSA-MIR-3678-3P	99.31	67.10	1432
HSA-MIR-296-3P	99.21	66.56	474
HSA-MIR-6809-5P	99.13	68.45	1223
HSA-MIR-589-5P	98.72	66.96	927
HSA-MIR-449C-3P	97.75	67.86	462
HSA-MIR-665	97.60	65.64	1781
HSA-MIR-3194-5P	96.80	64.90	1027
HSA-MIR-759	96.16	66.77	873

Literature-anchored findings (GeneRIF, showing 2)

• Ectopic expression of FUK inhibits the formation and the proteolytic activities of invadopodia, suggesting that the fucose salvage pathway might control melanoma invasion through invadopodium-mediated ECM remodeling. FUK depletion in WM793 melanoma cells at least partially abrogated the L-fucose-mediated inhibition of invadopodium formation. (PMID:29924834)
• Novel insight into FCSK-congenital disorder of glycosylation through a CRISPR-generated cell model. (PMID:38722107)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	fcsk	ENSDARG00000032650
mus_musculus	Fcsk	ENSMUSG00000033703
rattus_norvegicus	Fcsk	ENSRNOG00000059453
caenorhabditis_elegans		WBGENE00007745

Protein

Protein identifiers

L-fucose kinase — Q8N0W3 (reviewed: Q8N0W3)

All UniProt accessions (7): Q8N0W3, I3L106, I3L171, I3L1X0, I3L3J1, J3KSP6, J3KTP6

UniProt curated annotations — full annotation on UniProt →

Function. Takes part in the salvage pathway for reutilization of fucose from the degradation of oligosaccharides.

Tissue specificity. Expressed in fibroblasts.

Disease relevance. Congenital disorder of glycosylation with defective fucosylation 2 (CDGF2) [MIM:618324] A form of congenital disorder of glycosylation, a genetically heterogeneous group of multisystem disorders caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. CDGF2 is an autosomal recessive disorder, apparent from birth, characterized by hypotonia, poor feeding, severely impaired intellectual and psychomotor development, seizures with epileptic encephalopathy, visual impairment and other ocular features, respiratory difficulty with frequent infections, as well as contractures. Brain imaging shows cerebellar and brainstem atrophy, hypoplasia or agenesis of the corpus callosum, and white matter abnormalities including periventricular leukomalacia. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the GHMP kinase family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q8N0W3-1	1	yes
Q8N0W3-2	2

RefSeq proteins (1): NP_659496* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR006204	GHMP_kinase_N_dom	Domain
IPR012887	GDP_fucose_pyrophosphorylase	Domain
IPR013750	GHMP_kinase_C_dom	Domain
IPR020568	Ribosomal_Su5_D2-typ_SF	Homologous_superfamily
IPR036554	GHMP_kinase_C_sf	Homologous_superfamily
IPR052203	GHMP_Kinase-Related	Family

Pfam: PF00288, PF07959, PF08544

Enzyme classification (BRENDA):

• EC 2.7.1.52 — fucokinase (BRENDA: 23 organisms, 30 substrates, 30 inhibitors, 16 Km, 6 kcat entries)

Substrate kinetics (BRENDA)

3 substrates with measured Km, best-characterized 3. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
L-FUCOSE	0.017–1.59	8
ATP	0.29–1	7
L-GALACTOSE	2.03	1

Catalyzed reactions (Rhea), 1 shown:

• L-fucose + ATP = beta-L-fucose 1-phosphate + ADP + H(+) (RHEA:13241)

UniProt features (18 total): sequence variant 12, sequence conflict 2, splice variant 2, chain 1, binding site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8N0W3-F1	92.20	0.83

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 (1): 834–845

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-6787639	GDP-fucose biosynthesis

MSigDB gene sets: 129 (showing top): GSE45365_CTRL_VS_MCMV_INFECTION_NK_CELL_UP, chr16q22, AACYNNNNTTCCS_UNKNOWN, GOBP_CARBOHYDRATE_PHOSPHORYLATION, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_NUCLEOSIDE_PHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, GOBP_CARBOHYDRATE_METABOLIC_PROCESS, KEGG_FRUCTOSE_AND_MANNOSE_METABOLISM, GOBP_NUCLEOTIDE_SUGAR_BIOSYNTHETIC_PROCESS, GOBP_METABOLIC_COMPOUND_SALVAGE, TCCCRNNRTGC_UNKNOWN

GO Biological Process (3): GDP-L-fucose biosynthetic process (GO:0042350), GDP-L-fucose salvage (GO:0042352), carbohydrate phosphorylation (GO:0046835)

GO Molecular Function (7): ATP binding (GO:0005524), fucokinase activity (GO:0050201), nucleotide binding (GO:0000166), protein binding (GO:0005515), kinase activity (GO:0016301), transferase activity (GO:0016740), transferase activity, transferring phosphorus-containing groups (GO:0016772)

GO Cellular Component (1): cytosol (GO:0005829)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Synthesis of substrates in N-glycan biosythesis	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
nucleotide-sugar biosynthetic process	1
GDP-L-fucose metabolic process	1
GDP-L-fucose biosynthetic process	1
metabolic compound salvage	1
carbohydrate metabolic process	1
phosphorylation	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
kinase activity	1
phosphotransferase activity, alcohol group as acceptor	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
binding	1
transferase activity, transferring phosphorus-containing groups	1
catalytic activity	1
transferase activity	1
cytoplasm	1
cellular anatomical structure	1

Protein interactions and networks

STRING

612 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FCSK	GFUS	Q13630	745
FCSK	GMDS	O60547	729
FCSK	SLC35C1	Q96A29	623
FCSK	COG4	Q9H9E3	589
FCSK	FPGT	O14772	554
FCSK	RPEL1	Q2QD12	515
FCSK	FUT8	Q9BYC5	507
FCSK	FUT1	P19526	492
FCSK	FUCA1	P04066	477
FCSK	GMPPA	Q96IJ6	474
FCSK	SLC35H1	Q9NQQ7	456
FCSK	POFUT1	Q9H488	450
FCSK	FUCA2	Q9BTY2	444
FCSK	EPS8L3	Q8TE67	442
FCSK	POFUT2	Q9Y2G5	426

IntAct

34 interactions, top by confidence:

A	B	Type	Score
POGZ	FCSK	psi-mi:“MI:0915”(physical association)	0.560
TLX3	FCSK	psi-mi:“MI:0915”(physical association)	0.560
DNAJB8	DNAJB6	psi-mi:“MI:0914”(association)	0.530
HCST	TMEM120B	psi-mi:“MI:0914”(association)	0.350
COQ3	TARS3	psi-mi:“MI:0914”(association)	0.350
NPTN	RTL8C	psi-mi:“MI:0914”(association)	0.350
FPR1	GPR89A	psi-mi:“MI:0914”(association)	0.350
FCSK	HSPA8	psi-mi:“MI:0914”(association)	0.350
B4GALT2	LENG9	psi-mi:“MI:0914”(association)	0.350
VEGFD	RPSA2	psi-mi:“MI:0914”(association)	0.350
GPR182	SLC12A8	psi-mi:“MI:0914”(association)	0.350
TRMU	IFT56	psi-mi:“MI:0914”(association)	0.350
NPAS1	CIBAR1	psi-mi:“MI:0914”(association)	0.350
INF2	PIPSL	psi-mi:“MI:0914”(association)	0.350
GPR45	VWA8	psi-mi:“MI:0914”(association)	0.350
GZMH	DENND11	psi-mi:“MI:0914”(association)	0.350
PLEKHG7	MROH6	psi-mi:“MI:0914”(association)	0.350
UBXN6	ZSWIM8	psi-mi:“MI:0914”(association)	0.350
D2HGDH	ZSWIM8	psi-mi:“MI:0914”(association)	0.350
PUDP	ARHGAP32	psi-mi:“MI:0914”(association)	0.350
UPP1	A2ML1	psi-mi:“MI:0914”(association)	0.350
SF3B3	MYO9A	psi-mi:“MI:0914”(association)	0.350
CIAO2A		psi-mi:“MI:0914”(association)	0.350
MFSD4A	UBXN8	psi-mi:“MI:0914”(association)	0.350
FBXW5	TXNDC9	psi-mi:“MI:0914”(association)	0.350
PRMT6	RAB29	psi-mi:“MI:0914”(association)	0.350
DHCR24	WFS1	psi-mi:“MI:0914”(association)	0.350
UPK2	IFT56	psi-mi:“MI:0914”(association)	0.350

BioGRID (53): FUK (Affinity Capture-MS), FUK (Affinity Capture-MS), FUK (Affinity Capture-MS), FUK (Affinity Capture-MS), FUK (Affinity Capture-MS), FUK (Affinity Capture-MS), FUK (Two-hybrid), TLX3 (Two-hybrid), FUK (Proximity Label-MS), FUK (Proximity Label-MS), FUK (Proximity Label-MS), FUK (Proximity Label-MS), FUK (Proximity Label-MS), FUK (Proximity Label-MS), FUK (Proximity Label-MS)

ESM2 similar proteins: A0A1D5PJB7, A0A1L8HX76, A6QR40, O08764, O60294, O95382, P10938, P70218, P97452, Q12851, Q14137, Q15334, Q16586, Q28686, Q32P44, Q3TJ91, Q499N3, Q499U2, Q4KLI9, Q561R2, Q562C2, Q5RBH8, Q5RCX2, Q61161, Q6AY79, Q6F5E8, Q6P1M3, Q6V7V2, Q7SZE3, Q7TMC8, Q80Y17, Q8BYZ7, Q8C3I8, Q8C6B2, Q8CHW4, Q8K4K5, Q8MKF0, Q8N0W3, Q8VC03, Q91WI7

Diamond homologs: Q58T34, Q7TMC8, Q8N0W3

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	6
Uncertain significance	411
Likely benign	191
Benign	32

Top pathogenic / likely-pathogenic (6)

Variant ID	HGVS	Classification
3065139	NM_145059.3(FCSK):c.956-1G>A	Likely pathogenic
3779649	NM_145059.3(FCSK):c.412-2A>G	Likely pathogenic
3779650	NM_145059.3(FCSK):c.503_527dup (p.Pro180fs)	Likely pathogenic
4529498	NM_145059.3(FCSK):c.3255A>G (p.Ter1085Trp)	Likely pathogenic
4845770	NM_145059.3(FCSK):c.860del (p.Pro287fs)	Likely pathogenic
4845771	NM_145059.3(FCSK):c.1197C>A (p.Cys399Ter)	Likely pathogenic

SpliceAI

4880 predictions. Top by Δscore:

Variant	Effect	Δscore
16:70454632:T:G	donor_loss	1.0000
16:70463268:GAGAG:G	donor_gain	1.0000
16:70463774:TGT:T	donor_loss	1.0000
16:70463775:G:GG	donor_gain	1.0000
16:70463775:GTGA:G	donor_loss	1.0000
16:70463776:T:TC	donor_loss	1.0000
16:70463777:GAGT:G	donor_loss	1.0000
16:70468844:TCCA:T	acceptor_loss	1.0000
16:70468845:CCA:C	acceptor_loss	1.0000
16:70468846:CA:C	acceptor_loss	1.0000
16:70468847:A:AC	acceptor_loss	1.0000
16:70468847:A:AG	acceptor_gain	1.0000
16:70468848:G:GA	acceptor_loss	1.0000
16:70468848:G:GG	acceptor_gain	1.0000
16:70468964:TCCAG:T	donor_loss	1.0000
16:70468967:AGGTG:A	donor_loss	1.0000
16:70468968:GG:G	donor_loss	1.0000
16:70468969:GTGA:G	donor_loss	1.0000
16:70468970:T:G	donor_loss	1.0000
16:70469150:A:AG	acceptor_gain	1.0000
16:70469151:G:GG	acceptor_gain	1.0000
16:70469151:GCT:G	acceptor_gain	1.0000
16:70470957:ACCT:A	acceptor_gain	1.0000
16:70470960:T:TA	acceptor_gain	1.0000
16:70471072:GGTGA:G	donor_loss	1.0000
16:70471073:G:T	donor_loss	1.0000
16:70471074:T:G	donor_loss	1.0000
16:70471348:GGGAG:G	donor_gain	1.0000
16:70471349:GGAG:G	donor_gain	1.0000
16:70471349:GGAGG:G	donor_gain	1.0000

AlphaMissense

6910 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
16:70474795:T:A	W721R	0.999
16:70474795:T:C	W721R	0.999
16:70478280:T:A	W884R	0.997
16:70478280:T:C	W884R	0.997
16:70475656:A:C	S844R	0.996
16:70475658:C:A	S844R	0.996
16:70475658:C:G	S844R	0.996
16:70479335:T:C	F1029L	0.996
16:70479337:T:A	F1029L	0.996
16:70479337:T:G	F1029L	0.996
16:70466918:A:C	S150R	0.995
16:70466920:C:A	S150R	0.995
16:70466920:C:G	S150R	0.995
16:70474798:A:C	S722R	0.995
16:70474800:T:A	S722R	0.995
16:70474800:T:G	S722R	0.995
16:70478287:A:C	D886A	0.995
16:70466909:T:A	W147R	0.994
16:70466909:T:C	W147R	0.994
16:70474797:G:C	W721C	0.994
16:70474797:G:T	W721C	0.994
16:70475653:A:C	S843R	0.994
16:70475655:C:A	S843R	0.994
16:70475655:C:G	S843R	0.994
16:70475750:A:T	E875V	0.994
16:70478282:G:C	W884C	0.992
16:70478282:G:T	W884C	0.992
16:70478285:G:C	Q885H	0.992
16:70478285:G:T	Q885H	0.992
16:70474802:A:T	D723V	0.991

dbSNP variants (sampled 300 via entrez): RS1000001487 (16:70480009 C>T), RS1000213695 (16:70477673 T>C), RS1000321456 (16:70468697 T>A,C), RS1000378653 (16:70473763 C>A,G,T), RS1000379221 (16:70457895 C>A,T), RS1000461458 (16:70472785 G>A), RS1000538567 (16:70478969 C>T), RS1000649599 (16:70455824 G>A), RS1000759340 (16:70453995 A>G), RS1000803512 (16:70462684 G>A), RS1000875878 (16:70453765 T>G), RS1000916114 (16:70478682 C>T), RS1000987734 (16:70459253 TAA>T,TA), RS1001009875 (16:70473899 G>A), RS1001067157 (16:70473624 C>T)

Disease associations

OMIM: gene MIM:608675 | disease phenotypes: MIM:618324

GenCC curated gene-disease

Disease	Classification	Inheritance
congenital disorder of glycosylation with defective fucosylation 2	Strong	Autosomal recessive

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
congenital disorder of glycosylation with defective fucosylation 2	Limited	AR

Mondo (2): congenital disorder of glycosylation with defective fucosylation 2 (MONDO:0020777), neurodevelopmental disorder (MONDO:0700092)

Orphanet (0):

HPO phenotypes

25 total (25 of 25 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000486	Strabismus
HP:0000505	Visual impairment
HP:0000639	Nystagmus
HP:0000648	Optic atrophy
HP:0001250	Seizure
HP:0001252	Hypotonia
HP:0001263	Global developmental delay
HP:0001272	Cerebellar atrophy
HP:0001274	Agenesis of corpus callosum
HP:0001622	Premature birth
HP:0002020	Gastroesophageal reflux
HP:0002093	Respiratory insufficiency
HP:0002188	Delayed CNS myelination
HP:0002205	Recurrent respiratory infections
HP:0002540	Inability to walk
HP:0006970	Periventricular leukomalacia
HP:0010864	Severe intellectual disability
HP:0011463	Childhood onset
HP:0011968	Feeding difficulties
HP:0030948	Elevated gamma-glutamyltransferase level
HP:0034353	Appendicular spasticity
HP:0034392	Joint contracture
HP:0100704	Cerebral visual impairment
HP:0200134	Epileptic encephalopathy

GWAS associations

6 associations (top):

Study	Trait	p-value
GCST001762_137	Obesity-related traits	8.000000e-06
GCST001762_47	Obesity-related traits	6.000000e-06
GCST007268_55	Diastolic blood pressure	2.000000e-14
GCST007269_294	Pulse pressure	9.000000e-31
GCST010703_100	Brain morphology (MOSTest)	2.000000e-40
GCST010725_47	Malaria	6.000000e-07

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0004626	IGFBP-3 measurement
EFO:0006336	diastolic blood pressure
EFO:0005763	pulse pressure measurement
EFO:0004346	neuroimaging measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D065886	Neurodevelopmental Disorders	F03.625

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Arsenic	affects methylation, affects cotreatment, decreases expression, increases abundance, increases expression	2
Valproic Acid	affects expression, increases expression	2
aristolochic acid I	increases expression	1
bisphenol A	affects cotreatment, decreases methylation	1
sodium arsenite	affects cotreatment, decreases expression, increases abundance, increases expression	1
di-n-butylphosphoric acid	affects expression	1
Sunitinib	decreases expression	1
Fulvestrant	affects cotreatment, decreases methylation	1
Acetaminophen	decreases expression	1
Progesterone	affects response to substance	1
Smoke	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Urethane	decreases expression	1
Asbestos, Amosite	increases methylation	1
Okadaic Acid	decreases expression	1
Copper Sulfate	decreases expression	1
Acrylamide	decreases expression	1
Vitamin K 3	affects expression	1

Cellosaurus cell lines

1 cell lines: 1 transformed cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B2X1	Abcam HEK293T FCSK KO	Transformed cell line	Female

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
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,
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
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
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
NCT01783041	PHASE2/PHASE3	COMPLETED	Effect of Early L-Carnitine Supplementation on Neurodevelopmental Outcomes in Very Preterm Infants
NCT05767385	PHASE2/PHASE3	RECRUITING	Fetal Cerebrovascular Autoregulation in Congenital Heart Disease and Association With Neonatal Neurobehavior
NCT05675098	EARLY_PHASE1	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	ACTIVE_NOT_RECRUITING	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