KPTN

Summary

KPTN (kaptin, actin binding protein, HGNC:6404) is a protein-coding gene on chromosome 19q13.32, encoding KICSTOR complex protein kaptin (Q9Y664). As part of the KICSTOR complex functions in the amino acid-sensing branch of the TORC1 signaling pathway.

This gene encodes a filamentous-actin-associated protein, which is involved in actin dynamics and plays an important role in neuromorphogenesis. This protein is part of the KICSTOR protein complex that localizes to lysosomes. Mutations in this gene result in an autosomal recessive form of intellectual disability. Alternatively spliced transcript variants have been found for this gene.

Source: NCBI Gene 11133 — RefSeq curated summary.

At a glance

• Gene–disease (curated): complex neurodevelopmental disorder (Definitive, ClinGen) — +1 more curated relationship
• GWAS associations: 1
• Clinical variants (ClinVar): 234 total — 13 pathogenic, 7 likely-pathogenic
• Phenotypes (HPO): 42
• MANE Select transcript: NM_007059

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:6404
Approved symbol	KPTN
Name	kaptin, actin binding protein
Location	19q13.32
Locus type	gene with protein product
Status	Approved
Aliases	2E4, KICS4
Ensembl gene	ENSG00000118162
Ensembl biotype	protein_coding
OMIM	615620
Entrez	11133

Gene structure

Transcript identifiers

Ensembl transcripts: 12 — 6 protein_coding, 4 protein_coding_CDS_not_defined, 1 retained_intron, 1 nonsense_mediated_decay

ENST00000338134, ENST00000594139, ENST00000594208, ENST00000595484, ENST00000595554, ENST00000598699, ENST00000600271, ENST00000600551, ENST00000602193, ENST00000914957, ENST00000914958, ENST00000968682

RefSeq mRNA: 2 — MANE Select: NM_007059 NM_001291296, NM_007059

CCDS: CCDS42583

Canonical transcript exons

ENST00000338134 — 12 exons

Exon	Start	End
ENSE00001323992	47483935	47484219
ENSE00003006154	47475150	47475544
ENSE00003501053	47480298	47480407
ENSE00003524138	47483295	47483379
ENSE00003525139	47480958	47481033
ENSE00003527204	47483502	47483584
ENSE00003531556	47476803	47476938
ENSE00003540950	47477706	47477781
ENSE00003561665	47480760	47480833
ENSE00003588765	47479863	47479940
ENSE00003615024	47483161	47483215
ENSE00003671514	47476532	47476714

Expression profiles

Bgee: expression breadth ubiquitous, 218 present calls, max score 93.43.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 3.0685 / max 33.9493, expressed in 1467 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
181769	3.0685	1467

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right hemisphere of cerebellum	UBERON:0014890	93.43	gold quality
cerebellar hemisphere	UBERON:0002245	93.42	gold quality
cerebellar cortex	UBERON:0002129	93.28	gold quality
cerebellum	UBERON:0002037	91.95	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	90.59	gold quality
parotid gland	UBERON:0001831	90.41	gold quality
cervix squamous epithelium	UBERON:0006922	90.07	silver quality
endothelial cell	CL:0000115	89.00	silver quality
pituitary gland	UBERON:0000007	87.59	gold quality
adenohypophysis	UBERON:0002196	87.26	gold quality
apex of heart	UBERON:0002098	87.25	gold quality
lower esophagus mucosa	UBERON:0035834	87.17	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	86.69	gold quality
ganglionic eminence	UBERON:0004023	86.19	gold quality
right frontal lobe	UBERON:0002810	86.02	gold quality
anterior cingulate cortex	UBERON:0009835	85.89	gold quality
cingulate cortex	UBERON:0003027	85.85	gold quality
nucleus accumbens	UBERON:0001882	85.82	gold quality
putamen	UBERON:0001874	85.76	gold quality
caudate nucleus	UBERON:0001873	85.68	gold quality
ventricular zone	UBERON:0003053	85.07	gold quality
cortical plate	UBERON:0005343	84.97	gold quality
right lobe of liver	UBERON:0001114	84.77	gold quality
amygdala	UBERON:0001876	84.47	gold quality
mucosa of transverse colon	UBERON:0004991	84.46	gold quality
Brodmann (1909) area 9	UBERON:0013540	84.29	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	84.13	gold quality
right testis	UBERON:0004534	83.96	gold quality
brain	UBERON:0000955	83.76	gold quality
hindlimb stylopod muscle	UBERON:0004252	83.46	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.19

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

14 targeting KPTN, 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-4481	100.00	66.42	1669
HSA-MIR-4745-5P	99.98	65.95	1028
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-7845-5P	99.88	64.88	771
HSA-MIR-6745	99.74	65.33	1321
HSA-MIR-363-5P	99.46	64.51	1015
HSA-MIR-3182	99.40	68.15	2454
HSA-MIR-4700-5P	98.63	67.43	1915
HSA-MIR-6870-3P	98.08	65.10	692
HSA-MIR-8089	97.74	66.21	1698
HSA-MIR-22-5P	97.67	68.92	1355
HSA-MIR-4667-5P	97.61	66.67	1683
HSA-MIR-6748-3P	97.20	65.66	836

Literature-anchored findings (GeneRIF, showing 5)

• We have demonstrated that mutations in KPTN, encoding kaptin, cause a syndrome typified by macrocephaly, neurodevelopmental delay, and seizures. (PMID:24239382)
• identification of a protein complex (KICSTOR) that is composed of four proteins, KPTN, ITFG2, C12orf66 and SZT2, and that is required for amino acid or glucose deprivation to inhibit mTORC1 in cultured human cells (PMID:28199306)
• Pathogenic variants in KPTN gene identified by clinical whole-genome sequencing. (PMID:32358097)
• Pathogenic variants in KPTN, a rare cause of macrocephaly and intellectual disability. (PMID:32808430)
• Nonsense variant in a consanguineous family expands the phenotype of KPTN gene-related syndrome to include hearing impairment. (PMID:37311648)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	kptn	ENSDARG00000015937
mus_musculus	Kptn	ENSMUSG00000006021
rattus_norvegicus	Kptn	ENSRNOG00000085682

Protein

Protein identifiers

KICSTOR complex protein kaptin — Q9Y664 (reviewed: Q9Y664)

Alternative names: Actin-associated protein 2E4

All UniProt accessions (5): A0A384NLB4, Q9Y664, M0QXX4, M0QZ83, M0R238

UniProt curated annotations — full annotation on UniProt →

Function. As part of the KICSTOR complex functions in the amino acid-sensing branch of the TORC1 signaling pathway. Recruits, in an amino acid-independent manner, the GATOR1 complex to the lysosomal membranes and allows its interaction with GATOR2 and the RAG GTPases. Functions upstream of the RAG GTPases and is required to negatively regulate mTORC1 signaling in absence of amino acids. In absence of the KICSTOR complex mTORC1 is constitutively localized to the lysosome and activated. The KICSTOR complex is also probably involved in the regulation of mTORC1 by glucose.

Subunit / interactions. Part of the KICSTOR complex composed of KPTN, ITFG2, KICS2 and SZT2. SZT2 probably serves as a link between the other three proteins in the KICSTOR complex and mediates the direct interaction with the GATOR1 complex. May associate with F-actin filaments.

Subcellular location. Lysosome membrane. Cell projection. Lamellipodium. Stereocilium.

Disease relevance. Intellectual developmental disorder, autosomal recessive 41 (MRT41) [MIM:615637] A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT41 most consistent features are global developmental delay, macrocephaly with frontal bossing, high levels of anxiety, and some features suggestive of a pervasive developmental disorder. Less common features include fifth finger clinodactyly, recurrent pneumonia, and hepatosplenomegaly. The disease is caused by variants affecting the gene represented in this entry.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9Y664-1	1	yes
Q9Y664-2	2

RefSeq proteins (2): NP_001278225, NP_008990* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR028994	Integrin_alpha_N	Homologous_superfamily
IPR029982	Kptn	Family

UniProt features (8 total): sequence conflict 4, chain 1, modified residue 1, splice variant 1, sequence variant 1

Structure

Experimental structures (PDB)

6 structures.

PDB	Method	Resolution (Å)
9VAN	ELECTRON MICROSCOPY	2.9
9V80	ELECTRON MICROSCOPY	2.95
9V86	ELECTRON MICROSCOPY	3.04
9V9N	ELECTRON MICROSCOPY	3.08
9V6E	ELECTRON MICROSCOPY	3.19
9O5A	ELECTRON MICROSCOPY	3.2

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9Y664-F1	89.56	0.74

Functional residue map

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

Post-translational modifications (1): 1

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-9639288	Amino acids regulate mTORC1
R-HSA-2262752	Cellular responses to stress
R-HSA-8953897	Cellular responses to stimuli
R-HSA-9711097	Cellular response to starvation

MSigDB gene sets: 0 (showing top):

GO Biological Process (5): actin filament organization (GO:0007015), cellular response to amino acid starvation (GO:0034198), cellular response to glucose starvation (GO:0042149), protein localization to lysosome (GO:0061462), negative regulation of TORC1 signaling (GO:1904262)

GO Molecular Function (3): actin filament binding (GO:0051015), actin binding (GO:0003779), protein binding (GO:0005515)

GO Cellular Component (11): lysosomal membrane (GO:0005765), lamellipodium (GO:0030027), stereocilium (GO:0032420), postsynaptic actin cytoskeleton (GO:0098871), glutamatergic synapse (GO:0098978), KICSTOR complex (GO:0140007), lysosome (GO:0005764), actin cytoskeleton (GO:0015629), membrane (GO:0016020), filamentous actin (GO:0031941), cell projection (GO:0042995)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Cellular response to starvation	1
Cellular responses to stimuli	1
Cellular responses to stress	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular response to starvation	2
protein-containing complex	2
cellular anatomical structure	2
actin cytoskeleton organization	1
supramolecular fiber organization	1
response to amino acid starvation	1
protein localization to vacuole	1
negative regulation of TOR signaling	1
TORC1 signaling	1
regulation of TORC1 signaling	1
actin binding	1
protein-containing complex binding	1
cytoskeletal protein binding	1
binding	1
lysosome	1
lytic vacuole membrane	1
cell leading edge	1
plasma membrane bounded cell projection	1
stereocilium bundle	1
neuron projection	1
actin-based cell projection	1
actin cytoskeleton	1
postsynapse	1
postsynaptic cytoskeleton	1
synapse	1
lytic vacuole	1
cytoskeleton	1
actin filament	1

Protein interactions and networks

STRING

590 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
KPTN	ITFG2	Q969R8	997
KPTN	KICS2	Q96MD2	996
KPTN	SZT2	Q5T011	996
KPTN	DEPDC5	O75140	753
KPTN	NPRL3	Q12980	706
KPTN	NPRL2	Q8WTW4	703
KPTN	SAMTOR	Q1RMZ1	670
KPTN	WDR24	Q96S15	646
KPTN	TBC1D7	Q9P0N9	631
KPTN	WDR59	Q6PJI9	627
KPTN	MIOS	Q9NXC5	618
KPTN	EFNA5	P52803	613
KPTN	SEH1L	Q96EE3	613
KPTN	SLC38A9	Q8NBW4	501
KPTN	SEC13	P55735	492

IntAct

36 interactions, top by confidence:

A	B	Type	Score
KPTN	OTUD3	psi-mi:“MI:0915”(physical association)	0.640
RELT	OXSR1	psi-mi:“MI:0914”(association)	0.640
VWCE	HSPA5	psi-mi:“MI:0914”(association)	0.640
BTN2A1	POTEF	psi-mi:“MI:0914”(association)	0.530
VWCE	ZNF316	psi-mi:“MI:0914”(association)	0.530
KPTN	EIF4G3	psi-mi:“MI:0914”(association)	0.530
HSPB9	USP12	psi-mi:“MI:0914”(association)	0.530
FBXO2	TMEM131L	psi-mi:“MI:0914”(association)	0.530
SAMTOR	PER1	psi-mi:“MI:0914”(association)	0.530
DEPDC5	NPRL3	psi-mi:“MI:0914”(association)	0.530
KPTN	SRPK1	psi-mi:“MI:0217”(phosphorylation reaction)	0.440
PROSER2	VWA8	psi-mi:“MI:0914”(association)	0.350
SAMTOR	MIF4GD	psi-mi:“MI:0914”(association)	0.350
RBM33	MYO9B	psi-mi:“MI:0914”(association)	0.350
DEPDC5	SZT2	psi-mi:“MI:0914”(association)	0.350
RAP2A	CHEK1	psi-mi:“MI:0914”(association)	0.350
ADAM19	TSC22D2	psi-mi:“MI:0914”(association)	0.350
RBM33	BAG2	psi-mi:“MI:0914”(association)	0.350
DEPDC5	GLA	psi-mi:“MI:0914”(association)	0.350
OTUD3	MLF1	psi-mi:“MI:0914”(association)	0.350
CARHSP1	ITFG2	psi-mi:“MI:0914”(association)	0.350

BioGRID (129): KPTN (Affinity Capture-MS), KPTN (Affinity Capture-MS), KPTN (Affinity Capture-MS), IKBKAP (Affinity Capture-MS), NFRKB (Affinity Capture-MS), AMD1 (Affinity Capture-MS), C12orf66 (Affinity Capture-MS), EIF4G3 (Affinity Capture-MS), ELP2 (Affinity Capture-MS), KLC1 (Affinity Capture-MS), KLC2 (Affinity Capture-MS), KLC4 (Affinity Capture-MS), KIF5B (Affinity Capture-MS), KIF5C (Affinity Capture-MS), SEC14L1 (Affinity Capture-MS)

ESM2 similar proteins: A1L1L6, A2A825, A6QL63, C9J798, O14908, O43374, O94844, O95278, O95294, Q0P5N6, Q15126, Q1LVW0, Q2HJF8, Q2TBH1, Q3UMR5, Q3UNW5, Q4R4U1, Q5E9M9, Q5R5F8, Q5ZIW1, Q5ZM73, Q5ZM83, Q66JN8, Q6DFV5, Q6GQW0, Q6IE70, Q6NVC5, Q6NYU2, Q7TSA0, Q7Z6G3, Q8BG51, Q8BGF7, Q8BHT7, Q8CIW5, Q8IXI1, Q8IXI2, Q8JZN7, Q8VCX6, Q91XQ2, Q923S8

Diamond homologs: A0A1D5PJB7, Q8VCX6, Q9Y664

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
KPTN	“form complex”	“KICSTOR complex”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 38 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
Amino acids regulate mTORC1	5	45.5×	1e-05

GO biological processes:

GO term	Partners	Fold	FDR
negative regulation of TORC1 signaling	5	46.3×	9e-06
cellular response to amino acid starvation	5	45.4×	9e-06

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	13
Likely pathogenic	7
Uncertain significance	115
Likely benign	58
Benign	17

Top pathogenic / likely-pathogenic (20)

Variant ID	HGVS	Classification
100679	NM_007059.4(KPTN):c.776C>A (p.Ser259Ter)	Pathogenic
1365405	NM_007059.4(KPTN):c.785_786del (p.Lys262fs)	Pathogenic
1685918	NM_007059.4(KPTN):c.1183-1G>A	Pathogenic
1706595	NM_007059.4(KPTN):c.599+1G>A	Pathogenic
2446053	NM_007059.4(KPTN):c.736C>T (p.Gln246Ter)	Pathogenic
2577079	NM_007059.3(KPTN):c.397_398delAG	Pathogenic
2862376	NM_007059.4(KPTN):c.391del (p.Ala131fs)	Pathogenic
4688846	NM_007059.4(KPTN):c.777_783dup (p.Lys262fs)	Pathogenic
4765774	NM_007059.4(KPTN):c.644_653dup (p.Leu219fs)	Pathogenic
4796903	NM_007059.4(KPTN):c.599+1G>T	Pathogenic
4819450	NM_007059.4(KPTN):c.394+1G>T	Pathogenic
504486	NM_007059.4(KPTN):c.665dup (p.Ser223fs)	Pathogenic
987326	NM_007059.4(KPTN):c.692del (p.Val231fs)	Pathogenic
1030189	NM_007059.4(KPTN):c.754C>T (p.Arg252Ter)	Likely pathogenic
1206726	NM_007059.4(KPTN):c.773_780del (p.Leu258fs)	Likely pathogenic
1703138	NM_007059.4(KPTN):c.863G>C (p.Arg288Pro)	Likely pathogenic
3912025	NM_007059.4(KPTN):c.600-1G>T	Likely pathogenic
4081478	NM_007059.4(KPTN):c.309+1G>A	Likely pathogenic
4732239	NM_007059.4(KPTN):c.999+1G>T	Likely pathogenic
4845465	NM_007059.4(KPTN):c.572_573delinsAA (p.Phe191Ter)	Likely pathogenic

SpliceAI

2042 predictions. Top by Δscore:

Variant	Effect	Δscore
19:47475540:CTGTG:C	acceptor_gain	1.0000
19:47475541:TGTG:T	acceptor_gain	1.0000
19:47475545:C:CC	acceptor_gain	1.0000
19:47476528:ATAC:A	donor_loss	1.0000
19:47476529:TACCT:T	donor_loss	1.0000
19:47476797:TCCCA:T	donor_loss	1.0000
19:47476798:CCCA:C	donor_loss	1.0000
19:47476799:CCA:C	donor_loss	1.0000
19:47476800:CACC:C	donor_loss	1.0000
19:47476801:A:C	donor_loss	1.0000
19:47476802:C:CA	donor_loss	1.0000
19:47476937:CC:C	acceptor_gain	1.0000
19:47476938:CC:C	acceptor_gain	1.0000
19:47476939:C:CC	acceptor_gain	1.0000
19:47476939:CTG:C	acceptor_loss	1.0000
19:47476940:T:C	acceptor_loss	1.0000
19:47476948:CCAAA:C	acceptor_gain	1.0000
19:47476949:C:T	acceptor_gain	1.0000
19:47476949:CAAA:C	acceptor_gain	1.0000
19:47476950:A:T	acceptor_gain	1.0000
19:47476952:A:C	acceptor_gain	1.0000
19:47479861:AC:A	donor_gain	1.0000
19:47479862:CC:C	donor_gain	1.0000
19:47480762:A:AC	donor_gain	1.0000
19:47480763:C:CC	donor_gain	1.0000
19:47480952:CCTCA:C	donor_loss	1.0000
19:47480953:CTCAC:C	donor_loss	1.0000
19:47480954:TCAC:T	donor_loss	1.0000
19:47480955:CACCT:C	donor_loss	1.0000
19:47480957:C:CG	donor_loss	1.0000

AlphaMissense

2817 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:47483343:A:C	Y116D	0.999
19:47483347:G:C	N114K	0.999
19:47483347:G:T	N114K	0.999
19:47483351:A:G	L113P	0.999
19:47483502:C:A	K103N	0.999
19:47483502:C:G	K103N	0.999
19:47483512:G:T	T100K	0.999
19:47483518:C:T	G98E	0.999
19:47483519:C:A	G98W	0.999
19:47483567:A:G	S82P	0.999
19:47483569:A:T	V81D	0.999
19:47483949:A:G	F71S	0.999
19:47480813:A:C	F182L	0.998
19:47480813:A:T	F182L	0.998
19:47480815:A:G	F182L	0.998
19:47480966:A:C	Y173D	0.998
19:47483187:G:C	F141L	0.998
19:47483187:G:T	F141L	0.998
19:47483189:A:G	F141L	0.998
19:47483297:G:T	A131D	0.998
19:47483345:A:T	I115N	0.998
19:47483349:T:C	N114D	0.998
19:47483353:G:C	F112L	0.998
19:47483353:G:T	F112L	0.998
19:47483355:A:G	F112L	0.998
19:47483509:A:G	F101S	0.998
19:47483515:A:T	I99N	0.998
19:47483519:C:G	G98R	0.998
19:47483519:C:T	G98R	0.998
19:47483563:A:T	I83N	0.998

dbSNP variants (sampled 300 via entrez): RS1000121354 (19:47474762 T>C), RS1000176028 (19:47483858 G>A,T), RS1000278338 (19:47477361 G>A), RS1000329355 (19:47477717 T>C,G), RS1000526554 (19:47483473 C>A,G,T), RS1000615703 (19:47478763 G>C), RS1001612585 (19:47483100 C>T), RS1001956217 (19:47484456 A>G,T), RS1002073022 (19:47478343 C>T), RS1002303909 (19:47484315 C>A,G,T), RS1002310881 (19:47484653 T>C), RS1002386214 (19:47484891 G>C,T), RS1002847323 (19:47487606 G>A), RS1003692296 (19:47483765 C>T), RS1004005336 (19:47480839 G>T)

Disease associations

OMIM: gene MIM:615620 | disease phenotypes: MIM:615637

GenCC curated gene-disease

Disease	Classification	Inheritance
macrocephaly-developmental delay syndrome	Strong	Autosomal recessive

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
complex neurodevelopmental disorder	Definitive	AR

Mondo (1): macrocephaly-developmental delay syndrome (MONDO:0014289)

Orphanet (1): Macrocephaly-developmental delay syndrome (Orphanet:397612)

HPO phenotypes

42 total (30 of 42 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000218	High palate
HP:0000256	Macrocephaly
HP:0000268	Dolichocephaly
HP:0000278	Retrognathia
HP:0000303	Mandibular prognathia
HP:0000308	Microretrognathia
HP:0000316	Hypertelorism
HP:0000431	Wide nasal bridge
HP:0000455	Broad nasal tip
HP:0000494	Downslanted palpebral fissures
HP:0000729	Autistic behavior
HP:0000733	Motor stereotypy
HP:0000739	Anxiety
HP:0000750	Delayed speech and language development
HP:0001212	Prominent fingertip pads
HP:0001249	Intellectual disability
HP:0001250	Seizure
HP:0001252	Hypotonia
HP:0001263	Global developmental delay
HP:0001270	Motor delay
HP:0001363	Craniosynostosis
HP:0001433	Hepatosplenomegaly
HP:0001744	Splenomegaly
HP:0001963	Abnormal speech discrimination
HP:0002007	Frontal bossing
HP:0002069	Bilateral tonic-clonic seizure
HP:0002119	Ventriculomegaly
HP:0002121	Generalized non-motor (absence) seizure
HP:0002197	Generalized-onset seizure

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST011122_17	Walking pace	2.000000e-08

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

11 total (human), top 11 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	decreases expression, increases expression	2
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
pirinixic acid	increases activity, affects binding, decreases expression	1
glycidyl methacrylate	decreases expression	1
CGP 52608	affects binding, increases reaction	1
Sunitinib	decreases expression	1
Arsenic	affects methylation	1
Smoke	decreases expression	1
Tretinoin	decreases expression	1
Aflatoxin B1	increases methylation	1

Clinical trials (associated diseases)

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