FITM2

Summary

FITM2 (fat storage inducing transmembrane protein 2, HGNC:16135) is a protein-coding gene on chromosome 20q13.12, encoding Acyl-coenzyme A diphosphatase FITM2 (Q8N6M3). Fatty acyl-coenzyme A (CoA) diphosphatase that hydrolyzes fatty acyl-CoA to yield acyl-4’-phosphopantetheine and adenosine 3’,5’-bisphosphate.

Enables coenzyme A diphosphatase activity. Involved in several processes, including fatty-acyl-CoA catabolic process; lipid droplet formation; and lipid homeostasis. Predicted to be located in endoplasmic reticulum and membrane. Predicted to be active in endoplasmic reticulum membrane. Implicated in Siddiqi syndrome.

Source: NCBI Gene 128486 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Siddiqi syndrome (Definitive, ClinGen)
• GWAS associations: 3
• Clinical variants (ClinVar): 65 total — 5 pathogenic, 6 likely-pathogenic
• Phenotypes (HPO): 13
• MANE Select transcript: NM_001080472

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:16135
Approved symbol	FITM2
Name	fat storage inducing transmembrane protein 2
Location	20q13.12
Locus type	gene with protein product
Status	Approved
Aliases	dJ881L22.2, FIT2
Ensembl gene	ENSG00000197296
Ensembl biotype	protein_coding
OMIM	612029
Entrez	128486

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000396825

RefSeq mRNA: 1 — MANE Select: NM_001080472 NM_001080472

CCDS: CCDS33473

Canonical transcript exons

ENST00000396825 — 2 exons

Exon	Start	End
ENSE00000844863	44302840	44307240
ENSE00001459112	44310976	44311202

Expression profiles

Bgee: expression breadth ubiquitous, 244 present calls, max score 99.46.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 8.7228 / max 281.0494, expressed in 1702 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
187330	8.4614	1699
187331	0.2614	116

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cardiac muscle of right atrium	UBERON:0003379	99.46	gold quality
left ventricle myocardium	UBERON:0006566	99.45	gold quality
myocardium	UBERON:0002349	98.05	gold quality
heart right ventricle	UBERON:0002080	97.32	gold quality
cardiac ventricle	UBERON:0002082	94.66	gold quality
heart left ventricle	UBERON:0002084	94.56	gold quality
apex of heart	UBERON:0002098	93.84	gold quality
cardiac atrium	UBERON:0002081	93.22	gold quality
vena cava	UBERON:0004087	92.95	gold quality
right atrium auricular region	UBERON:0006631	92.75	gold quality
tibialis anterior	UBERON:0001385	92.10	gold quality
heart	UBERON:0000948	91.82	gold quality
deltoid	UBERON:0001476	88.69	silver quality
ileal mucosa	UBERON:0000331	87.51	gold quality
dorsal root ganglion	UBERON:0000044	86.74	gold quality
kidney epithelium	UBERON:0004819	86.67	silver quality
pons	UBERON:0000988	86.52	gold quality
upper arm skin	UBERON:0004263	86.10	gold quality
body of tongue	UBERON:0011876	85.75	gold quality
vastus lateralis	UBERON:0001379	85.69	silver quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	85.66	gold quality
biceps brachii	UBERON:0001507	85.59	gold quality
quadriceps femoris	UBERON:0001377	85.56	silver quality
upper leg skin	UBERON:0004262	85.16	gold quality
islet of Langerhans	UBERON:0000006	84.64	gold quality
muscle tissue	UBERON:0002385	84.32	gold quality
substantia nigra pars compacta	UBERON:0001965	84.07	gold quality
corpus epididymis	UBERON:0004359	83.96	gold quality
middle temporal gyrus	UBERON:0002771	83.70	gold quality
skeletal muscle tissue	UBERON:0001134	83.28	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.34

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 5)

• In order to obtain independent evidence for the involvement of FITM2 in the human pathology, downregulation of the single Fitm ortholog, CG10671, in Drosophila melanogaster was pursued using RNA interference. (PMID:28067622)
• Low FIT2 expression is associated with type 2 diabetes. (PMID:30020828)
• FIT2 is an acyl-coenzyme A diphosphatase crucial for endoplasmic reticulum homeostasis. (PMID:32915949)
• FIT2 organizes lipid droplet biogenesis with ER tubule-forming proteins and septins. (PMID:33861319)
• High FITM2 expression promotes cell migration ability of hepatocellular carcinoma by regulating the formation of caveolae and indicates poor patient survival. (PMID:34672358)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	fitm2	ENSDARG00000034568
mus_musculus	Fitm2	ENSMUSG00000048486
rattus_norvegicus	Fitm2	ENSRNOG00000027434
drosophila_melanogaster	Fitm	FBGN0035586
caenorhabditis_elegans	fitm-2	WBGENE00044094

Paralogs (1): FITM1 (ENSG00000139914)

Protein

Protein identifiers

Acyl-coenzyme A diphosphatase FITM2 — Q8N6M3 (reviewed: Q8N6M3)

Alternative names: Fat storage-inducing transmembrane protein 2, Fat-inducing protein 2

All UniProt accessions (1): Q8N6M3

UniProt curated annotations — full annotation on UniProt →

Function. Fatty acyl-coenzyme A (CoA) diphosphatase that hydrolyzes fatty acyl-CoA to yield acyl-4’-phosphopantetheine and adenosine 3’,5’-bisphosphate. Preferentially hydrolyzes unsaturated long-chain acyl-CoA substrates such as oleoyl-CoA/(9Z)-octadecenoyl-CoA and arachidonoyl-CoA/(5Z,8Z,11Z,14Z)-eicosatetraenoyl-CoA in the endoplasmic reticulum (ER) lumen. This catalytic activity is required for maintaining ER structure and for lipid droplets (LDs) biogenesis, which are lipid storage organelles involved in maintaining lipid and energy homeostasis. Directly binds to diacylglycerol (DAGs) and triacylglycerol, which is also important for LD biogenesis. May support directional budding of nacent LDs from the ER into the cytosol by reducing DAG levels at sites of LD formation. Plays a role in the regulation of cell morphology and cytoskeletal organization.

Subcellular location. Endoplasmic reticulum membrane.

Tissue specificity. Widely expressed.

Disease relevance. Siddiqi syndrome (SIDDIS) [MIM:618635] An autosomal recessive disorder characterized by early-onset progressive sensorineural hearing impairment, global developmental delay, regression of motor skills, dystonia, and low body mass index. Some patients have an ichthosis-like appearance of the skin and signs of sensory neuropathy. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the FIT family. FIT2 subfamily.

RefSeq proteins (1): NP_001073941* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR019388	FIT	Family
IPR046401	FITM1/2	Family

Pfam: PF10261

Catalyzed reactions (Rhea), 4 shown:

• hexadecanoyl-CoA + H2O = S-hexadecanoyl-4’-phosphopantetheine + adenosine 3’,5’-bisphosphate + 2 H(+) (RHEA:50032)
• an acyl-CoA + H2O = an acyl-4’-phosphopantetheine + adenosine 3’,5’-bisphosphate + 2 H(+) (RHEA:50044)
• (9Z)-octadecenoyl-CoA + H2O = S-(9Z-octadecenoyl)-4’-phosphopantetheine + adenosine 3’,5’-bisphosphate + 2 H(+) (RHEA:65564)
• (5Z,8Z,11Z,14Z)-eicosatetraenoyl-CoA + H2O = S-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-4’-phosphopantetheine + adenosine 3’,5’-bisphosphate + 2 H(+) (RHEA:65568)

UniProt features (21 total): topological domain 7, transmembrane region 6, sequence variant 3, active site 2, mutagenesis site 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8N6M3-F1	86.83	0.53

Functional residue map

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

Catalytic / active sites (2): 155; 214

Mutagenesis-validated functional residues (2):

Position	Phenotype
155	loss of oleoyl-coa diphosphatase activity; when associated with a-214. impaired er morphology. no difference in the appe
214	loss of oleoyl-coa diphosphatase activity; when associated with a-155. impaired er morphology, er homeostasis and lipid

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-8964572	Lipid particle organization

MSigDB gene sets: 122 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_BRAIN_TUMORAL_MACROPHAGE_UP, GOBP_ACYLGLYCEROL_HOMEOSTASIS, GOBP_PHOSPHOLIPID_METABOLIC_PROCESS, GOBP_REGULATION_OF_CELL_MORPHOGENESIS, SHEPARD_CRASH_AND_BURN_MUTANT_UP, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS, GOBP_PHOSPHOLIPID_BIOSYNTHETIC_PROCESS, GOBP_LIPID_HOMEOSTASIS, GOBP_GLYCEROLIPID_METABOLIC_PROCESS, GOBP_FATTY_ACYL_COA_METABOLIC_PROCESS, GOBP_SULFUR_COMPOUND_CATABOLIC_PROCESS, GOBP_AMIDE_METABOLIC_PROCESS, GOBP_ORGANELLE_ASSEMBLY

GO Biological Process (13): triglyceride metabolic process (GO:0006641), cytoskeleton organization (GO:0007010), phospholipid biosynthetic process (GO:0008654), lipid storage (GO:0019915), regulation of cell morphogenesis (GO:0022604), triglyceride storage (GO:0030730), lipid droplet organization (GO:0034389), intracellular triglyceride homeostasis (GO:0035356), fatty-acyl-CoA catabolic process (GO:0036115), fat cell differentiation (GO:0045444), lipid homeostasis (GO:0055088), lipid droplet formation (GO:0140042), lipid metabolic process (GO:0006629)

GO Molecular Function (6): coenzyme A diphosphatase activity (GO:0010945), triglyceride binding (GO:0017129), diacylglycerol binding (GO:0019992), endoplasmic reticulum-lipid droplet tether activity (GO:0170007), protein binding (GO:0005515), hydrolase activity (GO:0016787)

GO Cellular Component (3): endoplasmic reticulum membrane (GO:0005789), endoplasmic reticulum (GO:0005783), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Metabolism of lipids	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
organelle organization	2
lipid storage	2
lipid binding	2
acylglycerol metabolic process	1
phospholipid metabolic process	1
lipid biosynthetic process	1
organophosphate biosynthetic process	1
nutrient storage	1
cell morphogenesis	1
regulation of anatomical structure morphogenesis	1
intracellular chemical homeostasis	1
triglyceride homeostasis	1
fatty-acyl-CoA metabolic process	1
sulfur compound catabolic process	1
purine-containing compound catabolic process	1
nucleoside phosphate catabolic process	1
fatty acid derivative catabolic process	1
cell differentiation	1
chemical homeostasis	1
lipid droplet organization	1
membraneless organelle assembly	1
primary metabolic process	1
pyrophosphatase activity	1
protein-membrane adaptor activity	1
binding	1
catalytic activity	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
cellular anatomical structure	1

Protein interactions and networks

STRING

678 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FITM2	R3HDML	Q9H3Y0	775
FITM2	BSCL2	Q96G97	731
FITM2	ZFAND3	Q9H8U3	576
FITM2	PLIN2	Q99541	575
FITM2	KCNK16	Q96T55	571
FITM2	ATL1	Q8WXF7	558
FITM2	CIDEC	Q96AQ7	543
FITM2	GCC1	Q96CN9	541
FITM2	DGAT2	Q96PD7	527
FITM2	DGAT1	O75907	523
FITM2	PLIN5	Q00G26	518
FITM2	PLIN4	Q96Q06	514
FITM2	PLIN1	O60240	507
FITM2	MAEA	Q7L5Y9	507
FITM2	GPAT4	Q86UL3	507

IntAct

109 interactions, top by confidence:

A	B	Type	Score
NIPAL1	ESYT2	psi-mi:“MI:0914”(association)	0.640
TSPAN18	FITM2	psi-mi:“MI:0915”(physical association)	0.590
FITM2	HTATIP2	psi-mi:“MI:0915”(physical association)	0.560
UNC50	FITM2	psi-mi:“MI:0915”(physical association)	0.560
SLC7A1	TMEM223	psi-mi:“MI:0914”(association)	0.530
LPAR1	TMEM223	psi-mi:“MI:0914”(association)	0.530
IPPK	TMEM223	psi-mi:“MI:0914”(association)	0.530
C3AR1	TMEM120B	psi-mi:“MI:0914”(association)	0.530
GPR21	TMEM120B	psi-mi:“MI:0914”(association)	0.530
HTR2C	KLRG2	psi-mi:“MI:0914”(association)	0.530
ADGRG5	KLRG2	psi-mi:“MI:0914”(association)	0.530
SLC2A5	RBFOX3	psi-mi:“MI:0914”(association)	0.530
SLC2A12	METTL15	psi-mi:“MI:0914”(association)	0.530
SPPL2B	UQCRQ	psi-mi:“MI:0914”(association)	0.530
GPR52	SYNGR2	psi-mi:“MI:0914”(association)	0.530
SLC39A4	TMEM120B	psi-mi:“MI:0914”(association)	0.530
LPAR1	TMEM120B	psi-mi:“MI:0914”(association)	0.530
SLC22A9	GPR89A	psi-mi:“MI:0914”(association)	0.530
	ESYT2	psi-mi:“MI:0914”(association)	0.350
E5	ESYT2	psi-mi:“MI:0914”(association)	0.350
UPK1A	TMEM223	psi-mi:“MI:0914”(association)	0.350

BioGRID (102): FITM2 (Affinity Capture-MS), FITM2 (Affinity Capture-MS), FITM2 (Affinity Capture-MS), FITM2 (Affinity Capture-MS), FITM2 (Affinity Capture-MS), FITM2 (Affinity Capture-MS), FITM2 (Affinity Capture-MS), FITM2 (Affinity Capture-MS), FITM2 (Affinity Capture-MS), FITM2 (Affinity Capture-MS), FITM2 (Affinity Capture-MS), FITM2 (Affinity Capture-MS), FITM2 (Affinity Capture-MS), FITM2 (Affinity Capture-MS), FITM2 (Affinity Capture-MS)

ESM2 similar proteins: A0A1B0GVZ9, A4IFN5, A5PK40, A6NH52, A6NI61, B2LYG4, B2RZC9, B6ID01, D2HKB0, D3ZG27, P86229, Q0VDI3, Q15012, Q15546, Q17QJ2, Q1RLT2, Q2TA01, Q4R4I5, Q4R6E8, Q5H8A4, Q5R7Q1, Q5RAH0, Q5RL79, Q5U3C3, Q5VTY9, Q5ZML7, Q64232, Q6PHN7, Q6QRN8, Q719N3, Q71SV0, Q8BWB6, Q8IY49, Q8N6M3, Q8NFT2, Q8R189, Q8VD53, Q8VDI9, Q8VDR5, Q9CQC4

Diamond homologs: A0JP80, A4IFN5, A5D6W6, A7YWN2, B2LYG4, B2MVP8, P59266, Q06676, Q52KL1, Q6AX73, Q8N6M3, Q91V79, Q9HGM4, Q9VRJ2, Q5CZN0

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 111 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
R-HSA-425366	5	14.9×	1e-03
Class A/1 (Rhodopsin-like receptors)	8	9.7×	2e-04
SLC-mediated transmembrane transport	9	8.7×	2e-04
Peptide ligand-binding receptors	6	7.3×	5e-03
GPCR ligand binding	6	6.3×	9e-03
G alpha (i) signalling events	8	5.1×	5e-03
Transport of small molecules	12	5.0×	3e-04

GO biological processes:

GO term	Partners	Fold	FDR
amino acid transport	5	16.2×	1e-03
adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway	6	13.7×	5e-04
positive regulation of cytosolic calcium ion concentration	9	11.0×	4e-05
phospholipase C-activating G protein-coupled receptor signaling pathway	8	11.0×	1e-04
chemotaxis	7	9.9×	6e-04
calcium-mediated signaling	5	9.5×	9e-03
transport across blood-brain barrier	5	9.3×	9e-03
adenylate cyclase-activating G protein-coupled receptor signaling pathway	6	7.1×	9e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	5
Likely pathogenic	6
Uncertain significance	35
Likely benign	12
Benign	3

Top pathogenic / likely-pathogenic (11)

Variant ID	HGVS	Classification
2166470	NM_001080472.4(FITM2):c.21C>A (p.Cys7Ter)	Pathogenic
3896667	NM_001080472.4(FITM2):c.367C>T (p.Gln123Ter)	Pathogenic
692229	NM_001080472.4(FITM2):c.4G>T (p.Glu2Ter)	Pathogenic
692230	NM_001080472.4(FITM2):c.39dup (p.Thr14fs)	Pathogenic
692231	NM_001080472.4(FITM2):c.652C>T (p.Gln218Ter)	Pathogenic
2441926	NM_001080472.4(FITM2):c.1A>T (p.Met1Leu)	Likely pathogenic
2441981	NM_001080472.4(FITM2):c.576del (p.Val193fs)	Likely pathogenic
3345997	NM_001080472.4(FITM2):c.538C>T (p.Arg180Ter)	Likely pathogenic
4081394	NM_001080472.4(FITM2):c.343G>T (p.Glu115Ter)	Likely pathogenic
916461	NM_001080472.4(FITM2):c.200G>A (p.Trp67Ter)	Likely pathogenic
987439	NM_001080472.4(FITM2):c.1A>G (p.Met1Val)	Likely pathogenic

SpliceAI

431 predictions. Top by Δscore:

Variant	Effect	Δscore
20:44310970:ACTC:A	donor_loss	1.0000
20:44310971:CTCA:C	donor_loss	1.0000
20:44310972:TCACA:T	donor_loss	1.0000
20:44310974:A:AC	donor_gain	1.0000
20:44310974:AC:A	donor_loss	1.0000
20:44310975:C:CA	donor_loss	1.0000
20:44310975:C:CC	donor_gain	1.0000
20:44310975:CA:C	donor_gain	1.0000
20:44310975:CACG:C	donor_gain	1.0000
20:44310968:GCACT:G	donor_loss	0.9900
20:44310969:CACTC:C	donor_loss	0.9900
20:44310975:CACGT:C	donor_gain	0.9900
20:44306801:TCAAC:T	donor_gain	0.9800
20:44306838:A:AT	donor_gain	0.9800
20:44306986:T:TA	donor_gain	0.9800
20:44310967:TGCAC:T	donor_loss	0.9800
20:44306837:C:CT	donor_gain	0.9700
20:44310872:C:A	donor_gain	0.9700
20:44306724:CCAG:C	donor_gain	0.9600
20:44307238:TACC:T	acceptor_loss	0.9600
20:44307241:C:CA	acceptor_loss	0.9600
20:44307242:T:A	acceptor_loss	0.9600
20:44310871:C:A	donor_gain	0.9600
20:44310454:T:TA	donor_gain	0.9400
20:44310453:AT:A	donor_gain	0.9300
20:44310870:T:TA	donor_gain	0.9300
20:44310473:G:A	donor_gain	0.9200
20:44310006:C:CT	donor_gain	0.9100
20:44310805:C:CT	donor_gain	0.9100
20:44310806:T:TT	donor_gain	0.9100

AlphaMissense

1701 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
20:44307215:A:G	W67R	0.987
20:44307215:A:T	W67R	0.987
20:44306775:G:C	F213L	0.986
20:44306775:G:T	F213L	0.986
20:44306777:A:G	F213L	0.986
20:44307221:A:G	W65R	0.982
20:44307221:A:T	W65R	0.982
20:44306973:C:A	W147C	0.978
20:44306973:C:G	W147C	0.978
20:44306737:C:T	G226D	0.977
20:44306943:G:C	F157L	0.976
20:44306943:G:T	F157L	0.976
20:44306945:A:G	F157L	0.976
20:44306810:A:G	W202R	0.974
20:44306810:A:T	W202R	0.974
20:44306930:A:G	C162R	0.971
20:44307229:T:A	K62I	0.971
20:44306705:A:G	W237R	0.970
20:44306705:A:T	W237R	0.970
20:44306928:G:C	C162W	0.970
20:44306975:A:G	W147R	0.970
20:44306975:A:T	W147R	0.970
20:44306995:C:G	C140S	0.969
20:44306996:A:T	C140S	0.969
20:44307189:G:C	F75L	0.967
20:44307189:G:T	F75L	0.967
20:44307191:A:G	F75L	0.967
20:44310978:G:C	N57K	0.966
20:44310978:G:T	N57K	0.966
20:44310987:G:C	N54K	0.966

dbSNP variants (sampled 300 via entrez): RS1000293728 (20:44304564 T>G), RS1000365873 (20:44304333 G>A), RS1000667275 (20:44304310 C>A), RS1001208196 (20:44304735 G>A), RS1001218170 (20:44310896 G>A), RS1001380419 (20:44311493 G>C), RS1001438286 (20:44304969 C>T), RS1001721571 (20:44304489 A>G), RS1001732944 (20:44310642 C>T), RS1003039786 (20:44305913 G>A), RS1003207520 (20:44307857 G>T), RS1003285104 (20:44306182 T>A,C), RS1003450955 (20:44307546 C>T), RS1003741309 (20:44313154 T>A,C), RS1003846887 (20:44312940 C>T)

Disease associations

OMIM: gene MIM:612029 | disease phenotypes: MIM:618635

GenCC curated gene-disease

Disease	Classification	Inheritance
Siddiqi syndrome	Strong	Autosomal recessive

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
Siddiqi syndrome	Definitive	AR

Mondo (1): Siddiqi syndrome (MONDO:0032842)

Orphanet (0):

HPO phenotypes

13 total (13 of 13 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000020	Urinary incontinence
HP:0000407	Sensorineural hearing impairment
HP:0001250	Seizure
HP:0001263	Global developmental delay
HP:0001270	Motor delay
HP:0001371	Flexion contracture
HP:0001761	Pes cavus
HP:0002376	Developmental regression
HP:0002451	Limb dystonia
HP:0007210	Lower limb amyotrophy
HP:0008064	Ichthyosis
HP:0031936	Delayed ability to walk

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST001351_6	Type 2 diabetes	1.000000e-11
GCST007317_11	Response to ketamine in bipolar disorder or major depression (dissociation effects)	9.000000e-06
GCST90002397_281	Mean spheric corpuscular volume	6.000000e-17

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0009748	response to ketamine
EFO:0009750	dissociation measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	decreases expression, increases methylation	2
Nickel	decreases expression	2
TAK-243	decreases sumoylation	1
triphenyl phosphate	affects expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
sodium arsenite	decreases expression	1
pentabromodiphenyl ether	decreases expression	1
K 7174	decreases expression	1
nutlin 3	affects cotreatment, increases expression	1
abrine	decreases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
bisphenol S	affects cotreatment, decreases expression	1
(+)-JQ1 compound	increases expression	1
mono-isobutyl phthalate	affects expression	1
Sunitinib	decreases expression	1
Acetaminophen	increases expression	1
Cannabidiol	decreases expression	1
Cisplatin	increases expression	1
Dactinomycin	increases expression, affects cotreatment	1
Dexamethasone	affects cotreatment, decreases expression	1
Diethylhexyl Phthalate	decreases expression	1
Doxorubicin	decreases expression	1
Ethyl Methanesulfonate	increases expression	1
Formaldehyde	increases expression	1
Hydrogen Peroxide	affects cotreatment, increases expression	1
Indomethacin	affects cotreatment, decreases expression	1
Methyl Methanesulfonate	increases expression	1
Smoke	decreases expression	1
Theophylline	increases expression, affects cotreatment	1
Thiram	decreases expression	1

Clinical trials (associated diseases)

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