FAM120A

Summary

FAM120A (family with sequence similarity 120 member A, HGNC:13247) is a protein-coding gene on chromosome 9q22.31, encoding Constitutive coactivator of PPAR-gamma-like protein 1 (Q9NZB2). Component of the oxidative stress-induced survival signaling.

Enables RNA binding activity. Located in cytosol.

Source: NCBI Gene 23196 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Tourette syndrome (Limited, GenCC)
• GWAS associations: 12
• Clinical variants (ClinVar): 185 total
• Druggable target: yes
• MANE Select transcript: NM_014612

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:13247
Approved symbol	FAM120A
Name	family with sequence similarity 120 member A
Location	9q22.31
Locus type	gene with protein product
Status	Approved
Aliases	KIAA0183, OSSA
Ensembl gene	ENSG00000048828
Ensembl biotype	protein_coding
OMIM	612265
Entrez	23196

Gene structure

Transcript identifiers

Ensembl transcripts: 11 — 10 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000277165, ENST00000375389, ENST00000427765, ENST00000446420, ENST00000475933, ENST00000652239, ENST00000698944, ENST00000882056, ENST00000882057, ENST00000882058, ENST00000919764

RefSeq mRNA: 4 — MANE Select: NM_014612 NM_001286722, NM_001286723, NM_001286724, NM_014612

CCDS: CCDS6706, CCDS75859

Canonical transcript exons

ENST00000277165 — 18 exons

Exon	Start	End
ENSE00001331122	93527155	93527242
ENSE00001612031	93561109	93561250
ENSE00001652452	93558581	93558718
ENSE00001671042	93529353	93529580
ENSE00001689566	93497471	93497599
ENSE00001704097	93562208	93562304
ENSE00001722053	93543222	93543471
ENSE00001753851	93556382	93556591
ENSE00001768376	93557827	93558010
ENSE00001771114	93471141	93471387
ENSE00001776865	93550577	93550691
ENSE00001787101	93498790	93498886
ENSE00001793982	93532155	93532329
ENSE00001797280	93476256	93476338
ENSE00001800414	93515667	93515767
ENSE00001804255	93515983	93516269
ENSE00001879473	93564229	93566112
ENSE00003559000	93451685	93452389

Expression profiles

Bgee: expression breadth ubiquitous, 304 present calls, max score 99.66.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 50.6353 / max 510.7460, expressed in 1823 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
97414	36.5881	1820
97415	12.1277	1790
97423	0.5367	280
97416	0.5339	283
97417	0.4387	212
97420	0.4101	208

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
tibia	UBERON:0000979	99.66	gold quality
mucosa of sigmoid colon	UBERON:0004993	99.58	gold quality
visceral pleura	UBERON:0002401	99.56	gold quality
parietal pleura	UBERON:0002400	99.47	gold quality
pylorus	UBERON:0001166	99.45	gold quality
palpebral conjunctiva	UBERON:0001812	99.45	gold quality
colonic mucosa	UBERON:0000317	99.40	gold quality
choroid plexus epithelium	UBERON:0003911	99.40	gold quality
bronchial epithelial cell	CL:0002328	99.16	gold quality
germinal epithelium of ovary	UBERON:0001304	99.15	gold quality
gingival epithelium	UBERON:0001949	99.15	gold quality
esophagus squamous epithelium	UBERON:0006920	99.15	gold quality
pleura	UBERON:0000977	99.13	gold quality
pancreatic ductal cell	CL:0002079	99.12	gold quality
epithelial cell of pancreas	CL:0000083	99.08	gold quality
eye	UBERON:0000970	99.06	gold quality
decidua	UBERON:0002450	99.00	gold quality
mucosa of paranasal sinus	UBERON:0005030	98.99	gold quality
left ventricle myocardium	UBERON:0006566	98.96	gold quality
cardia of stomach	UBERON:0001162	98.95	gold quality
seminal vesicle	UBERON:0000998	98.90	gold quality
epithelium of bronchus	UBERON:0002031	98.88	gold quality
squamous epithelium	UBERON:0006914	98.87	gold quality
bronchus	UBERON:0002185	98.85	gold quality
epithelium of esophagus	UBERON:0001976	98.80	gold quality
renal medulla	UBERON:0000362	98.78	gold quality
gingiva	UBERON:0001828	98.78	gold quality
jejunal mucosa	UBERON:0000399	98.74	gold quality
epithelium of nasopharynx	UBERON:0001951	98.72	gold quality
nasopharynx	UBERON:0001728	98.70	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	12.28

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

199 targeting FAM120A, 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-6833-3P	100.00	70.63	3197
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-6740-5P	100.00	65.64	932
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-2110	99.96	66.68	1930
HSA-MIR-302E	99.96	70.74	2669
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-3910	99.95	71.13	2227
HSA-MIR-548AB	99.95	71.31	3488
HSA-MIR-548A-5P	99.94	71.27	3482
HSA-MIR-548AD-5P	99.94	71.23	3502
HSA-MIR-548AE-5P	99.94	71.23	3502
HSA-MIR-548AK	99.94	71.24	3488
HSA-MIR-548AM-5P	99.94	71.24	3488
HSA-MIR-548AP-5P	99.94	71.14	3489

Literature-anchored findings (GeneRIF, showing 8)

• study reports that C9orf10 (designated Ossa for oxidative stress-associated Src activator) is a novel RNA-binding protein that guards cancer cells from oxidative stress-induced apoptosis by activation of Src family kinases (PMID:19015244)
• Results identified FAM120A in the IL13/IL13Ralpha2 signaling pathway as a key mediator of invasion and liver metastasis in colon cancer. (PMID:25896327)
• Results identify novel SNP in FAM120A on chromosome 9 associated with differences in BMI in childhood which may predispose obesity. (PMID:25953783)
• his study shows that widespread structural brain involvement is not limited to C9+ patients, but also presents in a subgroup of C9- patients with ALS and relates to cognitive deficits. Our neuroimaging findings reveal an intermediate phenotype that may provide insight into the complex relationship between genetic factors and clinical characteristics. (PMID:27756805)
• circFAM120A participates in repeated implantation failure by regulating decidualization via the miR-29/ABHD5 axis. (PMID:34449947)
• FAM120A couples SREBP-dependent transcription and splicing of lipogenesis enzymes downstream of mTORC1. (PMID:37595559)
• C9orf10/Ossa regulates the bone metastasis of established lung adenocarcinoma cell subline H322L-BO4 in a mouse model. (PMID:38339971)
• FAM120A deficiency improves resistance to cisplatin in gastric cancer by promoting ferroptosis. (PMID:38565940)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	fam120a	ENSDARG00000075021
mus_musculus	Fam120a	ENSMUSG00000038014
rattus_norvegicus	Fam120a	ENSRNOG00000016779

Paralogs (2): FAM120B (ENSG00000112584), FAM120C (ENSG00000184083)

Protein

Protein identifiers

Constitutive coactivator of PPAR-gamma-like protein 1 — Q9NZB2 (reviewed: Q9NZB2)

Alternative names: Oxidative stress-associated SRC activator, Protein FAM120A

All UniProt accessions (5): A0A0C4DG79, A0A0C4DH52, A0A494C0Y9, A0A8V8TNY3, Q9NZB2

UniProt curated annotations — full annotation on UniProt →

Function. Component of the oxidative stress-induced survival signaling. May regulate the activation of SRC family protein kinases. May act as a scaffolding protein enabling SRC family protein kinases to phosphorylate and activate PI3-kinase. Binds IGF2 RNA and promotes the production of IGF2 protein.

Subunit / interactions. Interacts with PURA. Interacts with SRC family protein kinases YES1, SRC and FYN. Upon tyrosine phosphorylation, interacts with PIK3R1. Interacts with IGF2BP1/IMP-1 in an RNA-dependent manner.

Subcellular location. Cytoplasm. Cell membrane.

Tissue specificity. Widely expressed. In gastric mucosa, detected in the bottom region of the foveolar epithelium (at protein level).

Post-translational modifications. Arg-982 is dimethylated, probably to asymmetric dimethylarginine. Phosphorylated on tyrosine by SRC family protein kinases upon oxidative stress, for instance following UV irradiation.

Disease relevance. May play a role in the progression of scirrhous-type gastric cancer by supporting cancer cell survival during oxidative stress.

Similarity. Belongs to the constitutive coactivator of PPAR-gamma family.

Isoforms (5)

UniProt ID	Names	Canonical?
Q9NZB2-1	A	yes
Q9NZB2-2	B
Q9NZB2-4	D
Q9NZB2-5	E
Q9NZB2-6	F

RefSeq proteins (4): NP_001273651, NP_001273652, NP_001273653, NP_055427* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR026784	Coact_PPARg	Family
IPR029060	PIN-like_dom_sf	Homologous_superfamily

UniProt features (36 total): modified residue 12, compositionally biased region 9, splice variant 6, region of interest 5, sequence conflict 2, chain 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NZB2-F1	68.66	0.45

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 (12): 655, 873, 884, 886, 932, 960, 982, 986, 1023, 1044, 1045, 1048

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 227 (showing top): MORF_MTA1, TAATAAT_MIR126, MORF_MBD4, GNF2_BNIP2, MORF_HDAC1, MORF_RAD21, MITSIADES_RESPONSE_TO_APLIDIN_DN, MORF_HDAC2, GGGTGGRR_PAX4_03, AATGGAG_MIR136, MORF_PSMC2, ATGTTAA_MIR302C, MORF_CTBP1, MORF_RAB6A, ATGCTGG_MIR338

GO Biological Process (0):

GO Molecular Function (2): RNA binding (GO:0003723), protein binding (GO:0005515)

GO Cellular Component (5): nucleus (GO:0005634), cytosol (GO:0005829), plasma membrane (GO:0005886), membrane (GO:0016020), cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
nucleic acid binding	1
binding	1
intracellular membrane-bounded organelle	1
cytoplasm	1
membrane	1
cell periphery	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

1012 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FAM120A	IL13RA2	Q14627	527
FAM120A	NUP54	Q7Z3B4	496
FAM120A	PABPC4	Q13310	496
FAM120A	CAMSAP1	Q5T5Y3	483
FAM120A	PURA	Q00577	481
FAM120A	FBXW4	P57775	463
FAM120A	IGF2BP2	Q9Y6M1	456
FAM120A	CLNS1A	P54105	452
FAM120A	ZMYND12	Q9H0C1	419
FAM120A	ESYT2	A0FGR8	416
FAM120A	MANBA	O00462	407
FAM120A	PRSS57	Q6UWY2	399
FAM120A	CTAGE8	P0CG41	397
FAM120A	TTLL2	Q9BWV7	385
FAM120A	ECPAS	Q5VYK3	379

IntAct

274 interactions, top by confidence:

A	B	Type	Score
HNRNPC	KPNA3	psi-mi:“MI:0914”(association)	0.850
QKI	RBFOX2	psi-mi:“MI:0914”(association)	0.720
CFTR	XPO1	psi-mi:“MI:0914”(association)	0.710
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
FOXK2	DVL2	psi-mi:“MI:0914”(association)	0.640
NCBP1	KPNA3	psi-mi:“MI:0914”(association)	0.640
IGF2BP1	IGF2BP3	psi-mi:“MI:0914”(association)	0.640
FAM120A	UPF1	psi-mi:“MI:0915”(physical association)	0.620
HNRNPD	HNRNPDL	psi-mi:“MI:0914”(association)	0.560
HNRNPH2	PLOD2	psi-mi:“MI:0914”(association)	0.530
GGPS1	CCDC85C	psi-mi:“MI:0914”(association)	0.530
LGALS3BP	RGPD8	psi-mi:“MI:0914”(association)	0.530
ILF2	IGF2BP3	psi-mi:“MI:0914”(association)	0.530
GSPT2	IGF2BP3	psi-mi:“MI:0914”(association)	0.530
IFI30	PRC1	psi-mi:“MI:0914”(association)	0.530
RBMX	PTCD1	psi-mi:“MI:0914”(association)	0.530
N	HNRNPDL	psi-mi:“MI:0914”(association)	0.530
N	RBM47	psi-mi:“MI:0914”(association)	0.530
H1-6	ZNF724	psi-mi:“MI:0914”(association)	0.530
ELAVL2	IGF2BP3	psi-mi:“MI:0914”(association)	0.530
MRPS34	ZZEF1	psi-mi:“MI:0914”(association)	0.530
ILF2	RRP8	psi-mi:“MI:0914”(association)	0.530
HNRNPA1	PTCD1	psi-mi:“MI:0914”(association)	0.530
IGF2BP3	PTCD1	psi-mi:“MI:0914”(association)	0.530

BioGRID (478): FAM120A (Affinity Capture-RNA), FAM120A (Affinity Capture-MS), FAM120A (Affinity Capture-MS), FAM120A (Affinity Capture-MS), FAM120A (Affinity Capture-MS), FAM120A (Affinity Capture-MS), FAM120A (Affinity Capture-MS), FAM120A (Affinity Capture-MS), FAM120A (Affinity Capture-MS), FAM120A (Affinity Capture-MS), FAM120A (Affinity Capture-MS), FAM120A (Affinity Capture-MS), FAM120A (Affinity Capture-MS), FAM120A (Affinity Capture-MS), FAM120A (Affinity Capture-MS)

ESM2 similar proteins: A0JPH4, A3KFU9, A6H7H1, A7UA95, B9U3F2, D3ZWZ9, D4A6L0, E1BBQ2, F1M8G0, O15040, O54828, O75129, O88974, P49805, P97260, Q00M95, Q12770, Q13370, Q14432, Q15047, Q3B7M3, Q3B7T1, Q4ZIN3, Q5MNU5, Q5R9R1, Q5T848, Q5VW38, Q5ZKN3, Q61409, Q62865, Q63085, Q6A0A9, Q6F6B3, Q6GQV7, Q6L8S8, Q6P6V6, Q6PJF5, Q80WQ6, Q80Z10, Q86XL3

Diamond homologs: A6H7H1, Q5T035, Q6A0A9, Q6DEZ2, Q8C3F2, Q96EK7, Q9NX05, Q9NZB2, A6QNT4, Q6RI63

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 210 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
mRNA Polyadenylation	17	11.7×	4e-11
Processing of Capped Intron-Containing Pre-mRNA	16	10.3×	4e-10
Mitochondrial translation	9	9.7×	4e-05
mRNA 3’-end processing	6	9.2×	2e-03
Mitochondrial translation initiation	9	8.9×	6e-05
Mitochondrial translation elongation	9	8.9×	6e-05
Mitochondrial ribosome-associated quality control	9	8.6×	7e-05
mRNA Splicing - Major Pathway	20	8.5×	4e-11

GO biological processes:

GO term	Partners	Fold	FDR
positive regulation of cytoplasmic translation	6	33.4×	2e-06
NLS-bearing protein import into nucleus	5	22.5×	2e-04
alternative mRNA splicing, via spliceosome	5	18.9×	4e-04
mRNA transport	11	16.3×	6e-08
mRNA export from nucleus	9	14.9×	1e-06
regulation of alternative mRNA splicing, via spliceosome	10	13.7×	7e-07
mRNA stabilization	6	12.3×	5e-04
RNA processing	10	12.3×	1e-06

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	128
Likely benign	11
Benign	29

Top pathogenic / likely-pathogenic (0)

SpliceAI

4432 predictions. Top by Δscore:

Variant	Effect	Δscore
9:93452386:CAAGG:C	donor_loss	1.0000
9:93452390:G:GC	donor_loss	1.0000
9:93452391:T:A	donor_loss	1.0000
9:93471385:TAGGT:T	donor_loss	1.0000
9:93471389:T:G	donor_loss	1.0000
9:93476335:AAAG:A	donor_loss	1.0000
9:93476337:AGGT:A	donor_loss	1.0000
9:93476339:GT:G	donor_loss	1.0000
9:93476340:T:G	donor_loss	1.0000
9:93497466:CTCA:C	acceptor_loss	1.0000
9:93497467:TCAG:T	acceptor_loss	1.0000
9:93497468:CAGGT:C	acceptor_loss	1.0000
9:93497469:A:AG	acceptor_gain	1.0000
9:93497469:A:AT	acceptor_loss	1.0000
9:93497470:G:GG	acceptor_gain	1.0000
9:93497470:GGTCC:G	acceptor_gain	1.0000
9:93497595:CACAG:C	donor_loss	1.0000
9:93497596:ACAGG:A	donor_loss	1.0000
9:93497597:CAGG:C	donor_loss	1.0000
9:93497599:GGTAA:G	donor_loss	1.0000
9:93497600:GTAA:G	donor_loss	1.0000
9:93497601:T:A	donor_loss	1.0000
9:93498787:CAGTC:C	acceptor_loss	1.0000
9:93498788:A:AG	acceptor_gain	1.0000
9:93498789:G:GA	acceptor_gain	1.0000
9:93498789:GTCT:G	acceptor_gain	1.0000
9:93498789:GTCTA:G	acceptor_gain	1.0000
9:93498885:AGG:A	donor_loss	1.0000
9:93498887:G:A	donor_loss	1.0000
9:93498888:TAA:T	donor_loss	1.0000

AlphaMissense

7287 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:93451995:C:A	A27D	1.000
9:93452052:T:C	L46P	1.000
9:93452090:G:C	G59R	1.000
9:93452091:G:A	G59D	1.000
9:93452091:G:T	G59V	1.000
9:93452093:G:C	G60R	1.000
9:93452108:T:A	W65R	1.000
9:93452108:T:C	W65R	1.000
9:93452126:T:A	W71R	1.000
9:93452126:T:C	W71R	1.000
9:93452128:G:C	W71C	1.000
9:93452128:G:T	W71C	1.000
9:93452290:T:A	H125Q	1.000
9:93452290:T:G	H125Q	1.000
9:93471150:A:C	S162R	1.000
9:93471152:C:A	S162R	1.000
9:93471152:C:G	S162R	1.000
9:93471207:G:C	G181R	1.000
9:93471208:G:A	G181D	1.000
9:93471280:T:C	L205P	1.000
9:93471301:T:C	L212P	1.000
9:93471315:T:G	Y217D	1.000
9:93471343:T:C	L226P	1.000
9:93471349:T:C	L228P	1.000
9:93471376:C:A	A237D	1.000
9:93471382:T:A	L239H	1.000
9:93471382:T:C	L239P	1.000
9:93471387:G:A	G241R	1.000
9:93471387:G:C	G241R	1.000
9:93476256:G:A	G241E	1.000

dbSNP variants (sampled 300 via entrez): RS1000010833 (9:93529640 G>A), RS1000013941 (9:93536974 G>A,C), RS1000032513 (9:93488353 G>A), RS1000109151 (9:93500839 A>C), RS1000189320 (9:93456306 A>G), RS1000192783 (9:93541432 T>C,G), RS1000272892 (9:93464587 C>T), RS1000285478 (9:93477242 C>G), RS1000290307 (9:93542747 C>T), RS1000320820 (9:93543114 C>T), RS1000354511 (9:93489729 G>A,T), RS1000363955 (9:93451649 G>C), RS1000420507 (9:93483723 T>C), RS1000469603 (9:93457595 G>A), RS1000492589 (9:93493637 C>CT)

Disease associations

OMIM: gene MIM:612265 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
Tourette syndrome	Limited	Unknown

Mondo (2): neurodevelopmental disorder (MONDO:0700092), Tourette syndrome (MONDO:0007661)

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

12 associations (top):

Study	Trait	p-value
GCST002894_3	Body mass index	6.000000e-08
GCST003177_36	Childhood body mass index	2.000000e-06
GCST005316_59	Intelligence (MTAG)	2.000000e-10
GCST006107_11	Upper eyelid morphology	4.000000e-06
GCST006919_2	Ability to confide in someone	2.000000e-09
GCST006923_6	Loneliness	7.000000e-11
GCST006924_2	Loneliness (MTAG)	1.000000e-13
GCST008526_20	Coffee consumption	2.000000e-06
GCST010989_76	Body size at age 10	2.000000e-26
GCST012332_22	Multisite chronic pain	1.000000e-09
GCST012354_32	Anxiety	2.000000e-10
GCST012355_47	Depression	5.000000e-13

EFO canonical traits (8, from GWAS)

EFO ID	Trait name
EFO:0004340	body mass index
EFO:0004337	intelligence
EFO:0009592	social interaction measurement
EFO:0007865	loneliness measurement
EFO:0006781	coffee consumption measurement
EFO:0009819	comparative body size at age 10, self-reported
EFO:0010100	multisite chronic pain
EFO:0009863	anxiety measurement

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D065886	Neurodevelopmental Disorders	F03.625
D005879	Tourette Syndrome	C10.228.140.079.898; C10.228.662.825.800; C10.574.500.850; C16.320.400.820; F03.625.992.850

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL4295966 (SINGLE PROTEIN)

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

ChEMBL bioactivities

4 potent at pChembl≥5 of 4 total, top 4 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
8.44	Kd	3.652	nM	CHEMBL5653589
8.44	ED50	3.652	nM	CHEMBL5653589
5.33	Kd	4665	nM	CHEMBL3752910
5.33	ED50	4665	nM	CHEMBL3752910

PubChem BioAssay actives

2 with measured affinity, of 5 total; 2 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2148359: Binding affinity to human FAM120A incubated for 45 mins by Kinobead based pull down assay	kd	0.0037	uM
4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2148359: Binding affinity to human FAM120A incubated for 45 mins by Kinobead based pull down assay	kd	4.6647	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases abundance, increases expression	3
Valproic Acid	affects cotreatment, increases expression, decreases methylation	3
methylmercuric chloride	increases expression, affects cotreatment	2
bisphenol A	decreases expression, affects cotreatment	2
Acetaminophen	decreases expression	2
Aflatoxin B1	decreases methylation, increases methylation	2
bisphenol F	affects cotreatment, decreases expression	1
dicrotophos	increases expression	1
triphenyl phosphate	affects expression	1
pyrogallol 1,3-dimethyl ether	affects cotreatment, affects localization, increases expression	1
trichostatin A	increases expression	1
arsenite	affects binding, decreases reaction	1
cobaltous chloride	decreases expression	1
butyraldehyde	decreases expression	1
aflatoxin B2	increases methylation	1
beta-methylcholine	affects expression	1
di-n-butylphosphoric acid	affects expression	1
2,3,5-(triglutathion-S-yl)hydroquinone	decreases ADP-ribosylation	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
dorsomorphin	increases expression, affects cotreatment	1
bisphenol S	affects cotreatment, decreases expression	1
fatostatin	decreases expression	1
Sunitinib	decreases expression	1
Air Pollutants	affects expression, increases abundance	1
Arsenic	increases abundance, increases expression	1
Atrazine	increases expression	1
Benzo(a)pyrene	affects methylation	1
Caffeine	affects phosphorylation	1
Cisplatin	decreases expression	1
Dexamethasone	affects cotreatment, decreases expression	1

ChEMBL screening assays

2 unique, capped per target: 2 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL4118986	Binding	Binding affinity to FAM120A in human NCI-H358 cells at 1 uM by mass spectrometry based pull down assay	Studies of TAK1-centered polypharmacology with novel covalent TAK1 inhibitors. — Bioorg Med Chem

Cellosaurus cell lines

1 cell lines: 1 transformed cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B2WT	Abcam HEK293T FAM120A KO	Transformed cell line	Female

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00152750	PHASE4	UNKNOWN	Study of Clonidine on Sleep Architecture in Children With Tourette’s Syndrome (TS) and Comorbid ADHD
NCT00226824	PHASE4	TERMINATED	Safety Study of Galantamine in Tic Disorders
NCT00241176	PHASE4	COMPLETED	Open Label Trial of Aripiprazole in Children and Adolescents With Tourette’s Disorder
NCT00370838	PHASE4	COMPLETED	Comparison of Keppra and Clonidine in the Treatment of Tics
NCT01018056	PHASE4	COMPLETED	Developing New Treatments for Tourette Syndrome: Therapeutic Trials With Modulators of Glutamatergic Neurotransmission
NCT01547000	PHASE4	COMPLETED	Guanfacine in Children With Tic Disorders
NCT03239210	PHASE4	COMPLETED	Effects of Ondansetron in Obsessive-compulsive and Tic Disorders
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,
NCT00004376	PHASE3	COMPLETED	Phase III Randomized, Double-Blind, Placebo-Controlled Study of Guanfacine for Tourette Syndrome and Attention Deficit Hyperactivity Disorder
NCT00206323	PHASE3	COMPLETED	A Randomized, Placebo-controlled, Tourette Syndrome Study.
NCT00206336	PHASE3	COMPLETED	An Open-label Study to Determine the Efficacy and Safety of Topiramate in the Treatment of Tourette Syndrome.
NCT00478842	PHASE3	COMPLETED	Pallidal Stimulation and Gilles de la Tourette Syndrome
NCT00681863	PHASE3	TERMINATED	Open-label Extension Study of Pramipexole in the Treatment of Children and Adolescents With Tourette Syndrome
NCT01501695	PHASE3	COMPLETED	Phase III Study of 5LGr to Treat Tic Disorder
NCT03087201	PHASE3	COMPLETED	CANNAbinoids in the Treatment of TICS (CANNA-TICS)
NCT03487783	PHASE3	COMPLETED	Aripiprazole Oral Solution in the Treatment of Children and Adolescents With Tourette’s Syndrome
NCT03567291	PHASE3	TERMINATED	Evaluation of Safety and Tolerability of Long-term TEV-50717 (Deutetrabenazine) for Treatment of Tourette Syndrome in Children and Adolescents
NCT03571256	PHASE3	COMPLETED	A Study to Test if TEV-50717 is Effective in Relieving Tics Associated With Tourette Syndrome (TS)
NCT06021522	PHASE3	ACTIVE_NOT_RECRUITING	A Study to Evaluate Long-term Safety of Ecopipam Tablets in Children, Adolescents and Adults With Tourette’s Disorder
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
NCT00004393	PHASE2	COMPLETED	Phase II Double Blind Placebo Controlled Trial of Risperidone in Tourette Syndrome
NCT00004652	PHASE2	COMPLETED	Phase II Pilot Controlled Study of Short Vs Longer Term Pimozide (Orap) Therapy in Tourette Syndrome
NCT00231985	PHASE2	COMPLETED	Effectiveness of Behavior Therapy and Psychosocial Therapy for the Treatment of Tourette Syndrome and Chronic Tic Disorder
NCT00311909	PHASE2	COMPLETED	Thalamic Deep Brain Stimulation for Tourette Syndrome
NCT00529308	PHASE2	COMPLETED	Transcranial Magnetic Stimulation (TMS) for Individuals With Tourette’s Syndrome
NCT00558467	PHASE2	COMPLETED	Pramipexole Pilot Phase II Study in Children and Adolescents With Tourette Disorder According to DSM-IV Criteria
NCT01043549	PHASE2	TERMINATED	Repetitive Transcranial Magnetic Stimulation of the Posterior Parietal Cortex in Patients Suffering From Gilles de la Tourette Syndrome
NCT01133353	PHASE2	WITHDRAWN	A Study of the Effectiveness and Safety of Tetrabenazine MR in Pediatric Subjects With Tourette’s Syndrome
NCT01475383	PHASE2	WITHDRAWN	Study Evaluating The Safety And Efficacy Of PF-03654746 In Adult Subjects With Tourette’s Syndrome
NCT01647269	PHASE2	COMPLETED	A Trial of Bilateral Deep Brain Stimulation to the Globus Pallidus Internum in Tourette Syndrome
NCT01904773	PHASE2	COMPLETED	Safety, Tolerability, Pharmacokinetic, and Efficacy Study of AZD5213 in Adolescents With Tourette’s Disorder
NCT02102698	PHASE2	COMPLETED	Ecopipam Treatment of Tourette’s Syndrome in Subjects 7-17 Years
NCT02217007	PHASE2	WITHDRAWN	A Trial Evaluating the Efficacy, Safety, and Pharmacokinetics of SNC-102 in Subjects With Tourette Syndrome
NCT02247206	PHASE2	COMPLETED	VoIP Delivered Behavior Therapy for Tourette Syndrome
NCT02581865	PHASE2	COMPLETED	Safety and Efficacy Study of NBI-98854 in Adults With Tourette Syndrome
NCT02619084	PHASE2	COMPLETED	Subthalamic Stimulation in Tourette’s Syndrome