FAM120AOS

Summary

FAM120AOS (family with sequence similarity 120 member A opposite strand, HGNC:23389) is a protein-coding gene on chromosome 9q22.31, encoding Uncharacterized protein FAM120AOS (Q5T036).

Differences in the expression level of this gene are associated with the survival rate of those with glioma.

Source: NCBI Gene 158293 — RefSeq curated summary.

At a glance

• GWAS associations: 8
• Clinical variants (ClinVar): 23 total — 1 likely-pathogenic
• Phenotypes (HPO): 2
• MANE Select transcript: NM_198841

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:23389
Approved symbol	FAM120AOS
Name	family with sequence similarity 120 member A opposite strand
Location	9q22.31
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000188938
Ensembl biotype	protein_coding
Entrez	158293

Gene structure

Transcript identifiers

Ensembl transcripts: 14 — 9 protein_coding_CDS_not_defined, 3 protein_coding, 2 nonsense_mediated_decay

ENST00000375412, ENST00000423591, ENST00000428152, ENST00000428378, ENST00000445280, ENST00000476484, ENST00000479094, ENST00000483056, ENST00000483149, ENST00000520403, ENST00000520470, ENST00000523407, ENST00000649557, ENST00000650398

RefSeq mRNA: 2 — MANE Select: NM_198841 NM_001322224, NM_198841

CCDS: CCDS6705, CCDS83385

Canonical transcript exons

ENST00000375412 — 3 exons

Exon	Start	End
ENSE00001383553	93452147	93453581
ENSE00003560027	93450479	93450599
ENSE00003838283	93443332	93447697

Expression profiles

Bgee: expression breadth ubiquitous, 256 present calls, max score 95.86.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 20.8295 / max 401.6199, expressed in 1806 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
101494	11.1000	1790
101493	6.4013	1707
101498	3.3283	1437

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cardiac muscle of right atrium	UBERON:0003379	95.86	gold quality
adenohypophysis	UBERON:0002196	95.47	gold quality
ileal mucosa	UBERON:0000331	95.38	gold quality
pituitary gland	UBERON:0000007	94.98	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	94.48	gold quality
left ventricle myocardium	UBERON:0006566	94.29	gold quality
rectum	UBERON:0001052	94.17	gold quality
right coronary artery	UBERON:0001625	94.07	gold quality
upper arm skin	UBERON:0004263	93.94	gold quality
popliteal artery	UBERON:0002250	93.93	gold quality
tibial artery	UBERON:0007610	93.92	gold quality
left coronary artery	UBERON:0001626	93.63	gold quality
aorta	UBERON:0000947	93.62	gold quality
descending thoracic aorta	UBERON:0002345	93.52	gold quality
placenta	UBERON:0001987	93.43	gold quality
left lobe of thyroid gland	UBERON:0001120	93.34	gold quality
corpus epididymis	UBERON:0004359	93.33	gold quality
mucosa of stomach	UBERON:0001199	93.32	gold quality
muscle layer of sigmoid colon	UBERON:0035805	93.32	gold quality
coronary artery	UBERON:0001621	93.29	gold quality
transverse colon	UBERON:0001157	93.28	gold quality
thoracic aorta	UBERON:0001515	93.28	gold quality
ascending aorta	UBERON:0001496	93.22	gold quality
thyroid gland	UBERON:0002046	93.14	gold quality
lower esophagus muscularis layer	UBERON:0035833	93.10	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	93.09	gold quality
lower esophagus	UBERON:0013473	93.08	gold quality
right lobe of thyroid gland	UBERON:0001119	93.06	gold quality
tibialis anterior	UBERON:0001385	93.05	gold quality
parotid gland	UBERON:0001831	93.03	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

55 targeting FAM120AOS, 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-5011-5P	100.00	83.46	5820
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-34C-5P	99.97	70.45	1577
HSA-MIR-449B-5P	99.97	70.26	1580
HSA-MIR-146A-5P	99.96	68.93	988
HSA-MIR-146B-5P	99.96	69.13	977
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-3912-5P	99.95	66.11	925
HSA-MIR-1236-3P	99.94	68.04	1695
HSA-MIR-7153-5P	99.94	68.89	1006
HSA-MIR-3682-5P	99.93	67.97	1163
HSA-MIR-3681-5P	99.82	66.88	387
HSA-MIR-4766-5P	99.75	69.23	2662
HSA-MIR-3059-5P	99.70	69.93	2491
HSA-MIR-3158-5P	99.65	67.51	1763
HSA-MIR-6849-5P	99.64	66.00	352
HSA-MIR-298	99.63	67.56	1916
HSA-MIR-4499	99.62	67.29	1470
HSA-MIR-7159-3P	99.51	70.17	1920
HSA-MIR-3123	99.47	67.15	2693
HSA-MIR-578	99.46	68.36	1787
HSA-MIR-548B-3P	99.38	67.26	1000
HSA-MIR-4796-5P	99.34	70.06	810
HSA-MIR-4520-2-3P	99.14	69.28	1009
HSA-MIR-146A-3P	99.13	68.99	1881
HSA-MIR-7160-5P	99.11	67.17	2207
HSA-MIR-3152-3P	99.10	66.35	678

Cross-species orthologs

0 orthologs

Protein

Protein identifiers

Uncharacterized protein FAM120AOS — Q5T036 (reviewed: Q5T036)

Alternative names: FAM120A opposite strand protein

All UniProt accessions (4): E5RJ17, E9PCY8, Q5T036, Q5T040

RefSeq proteins (2): NP_001309153, NP_942138* (*=MANE)

Domains & families (InterPro)

UniProt features (5 total): region of interest 2, sequence variant 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5T036-F1	55.38	0.04

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 86 (showing top): GGGTGGRR_PAX4_03, LINDGREN_BLADDER_CANCER_CLUSTER_2A_DN, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, chr9q22, ACEVEDO_LIVER_CANCER_UP, YNGTTNNNATT_UNKNOWN, OSMAN_BLADDER_CANCER_DN, NUYTTEN_EZH2_TARGETS_DN, SCGGAAGY_ELK1_02, GEORGES_TARGETS_OF_MIR192_AND_MIR215, MARTENS_TRETINOIN_RESPONSE_DN, PURBEY_TARGETS_OF_CTBP1_AND_SATB1_DN, GSE5503_MLN_DC_VS_PLN_DC_ACTIVATED_ALLOGENIC_TCELL_DN, CEBPZ_TARGET_GENES, CREB3L4_TARGET_GENES

GO Biological Process (0):

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (0):

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	1

Protein interactions and networks

STRING

218 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FAM120AOS	OCIAD2	Q56VL3	433
FAM120AOS	CLHC1	Q8NHS4	430
FAM120AOS	WDR93	Q6P2C0	418
FAM120AOS	FERRY3	Q9NQ89	379
FAM120AOS	FAM177A1	Q8N128	370
FAM120AOS	C14orf132	Q9NPU4	370
FAM120AOS	OLFM4	Q6UX06	348
FAM120AOS	TOGARAM1	Q9Y4F4	329
FAM120AOS	PDLIM4	P50479	323
FAM120AOS	TMEM92	Q6UXU6	322
FAM120AOS	GARIN5B	Q8N5Q1	314
FAM120AOS	KCTD3	Q9Y597	310
FAM120AOS	TDRP	Q86YL5	310
FAM120AOS	SH3YL1	Q96HL8	308
FAM120AOS	TSEN15	Q8WW01	307

IntAct

5 interactions, top by confidence:

A	B	Type	Score
FAM120AOS	MDFI	psi-mi:“MI:0915”(physical association)	0.560
FAM120AOS	TIMM10	psi-mi:“MI:0914”(association)	0.350
FAM120AOS	MDFI	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (18): FAM120AOS (Affinity Capture-RNA), FAM120AOS (Affinity Capture-RNA), FAM120AOS (Two-hybrid), SMEK2 (Affinity Capture-MS), PSMG4 (Affinity Capture-MS), AHNAK2 (Affinity Capture-MS), MICAL1 (Affinity Capture-MS), TIMM10 (Affinity Capture-MS), TIMM10B (Affinity Capture-MS), SMEK1 (Affinity Capture-MS), HERC1 (Affinity Capture-MS), TRPC4AP (Affinity Capture-MS), POTEKP (Affinity Capture-MS), VPRBP (Affinity Capture-MS), PASK (Affinity Capture-MS)

ESM2 similar proteins: A0A1B0GUT2, A0A3Q1LFG5, A1L4Q6, A2RUQ5, A8MQB3, A8MU10, A8MZ25, B1ANY3, C9JC47, P0C7V0, P0C864, P0CG42, P0CG43, P0DP75, P0DPA3, P0DXC1, P20975, P20977, P24026, P59020, P59021, P87743, Q06250, Q0IIN9, Q52M75, Q5SR53, Q5T036, Q5W150, Q67923, Q6ZUF6, Q6ZUU3, Q71F78, Q7Z4H9, Q8IYB0, Q8JMY5, Q8JMZ5, Q8JN06, Q8N2X6, Q8N5N4, Q8N9X3

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	14
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
183343	NM_198841.4(FAM120AOS):c.743C>T (p.Thr248Ile)	Likely pathogenic

SpliceAI

764 predictions. Top by Δscore:

Variant	Effect	Δscore
9:93450603:C:CT	acceptor_gain	1.0000
9:93450603:C:T	acceptor_gain	1.0000
9:93450604:A:T	acceptor_gain	1.0000
9:93452386:CAAGG:C	donor_loss	1.0000
9:93452390:G:GC	donor_loss	1.0000
9:93452391:T:A	donor_loss	1.0000
9:93447697:TC:T	acceptor_loss	0.9900
9:93447698:C:CC	acceptor_gain	0.9900
9:93447699:T:C	acceptor_loss	0.9900
9:93450597:T:TC	acceptor_gain	0.9900
9:93451932:T:TA	donor_gain	0.9900
9:93447696:AT:A	acceptor_gain	0.9800
9:93450474:CTT:C	donor_loss	0.9800
9:93450477:GCCT:G	donor_loss	0.9800
9:93450481:TTTTC:T	donor_gain	0.9800
9:93450614:C:CT	acceptor_gain	0.9800
9:93451939:C:CT	donor_gain	0.9800
9:93451940:T:TT	donor_gain	0.9800
9:93447693:GAAAT:G	acceptor_gain	0.9700
9:93450600:C:CC	acceptor_gain	0.9700
9:93450615:A:T	acceptor_gain	0.9700
9:93451117:T:TA	donor_gain	0.9700
9:93452390:G:GG	donor_gain	0.9700
9:93451956:G:GA	donor_gain	0.9600
9:93451957:C:A	donor_gain	0.9600
9:93447695:AAT:A	acceptor_gain	0.9500
9:93448411:TGA:T	donor_gain	0.9500
9:93450597:T:C	acceptor_gain	0.9500
9:93450598:TT:T	acceptor_gain	0.9500
9:93451299:C:A	donor_gain	0.9500

AlphaMissense

1627 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:93452218:G:C	F164L	0.994
9:93452218:G:T	F164L	0.994
9:93452220:A:G	F164L	0.994
9:93452289:A:G	W141R	0.993
9:93452289:A:T	W141R	0.993
9:93452296:G:C	F138L	0.984
9:93452296:G:T	F138L	0.984
9:93452298:A:G	F138L	0.984
9:93452277:A:G	C145R	0.983
9:93452265:A:G	W149R	0.980
9:93452265:A:T	W149R	0.980
9:93452279:A:T	I144N	0.980
9:93452295:A:G	W139R	0.980
9:93452295:A:T	W139R	0.980
9:93452380:C:A	W110C	0.979
9:93452380:C:G	W110C	0.979
9:93452263:C:A	W149C	0.973
9:93452263:C:G	W149C	0.973
9:93452287:C:A	W141C	0.973
9:93452287:C:G	W141C	0.973
9:93452377:C:A	K111N	0.973
9:93452377:C:G	K111N	0.973
9:93452219:A:C	F164C	0.970
9:93452276:C:T	C145Y	0.970
9:93452285:A:G	L142P	0.970
9:93452275:G:C	C145W	0.969
9:93452357:A:G	M118T	0.969
9:93452279:A:G	I144T	0.967
9:93452382:A:G	W110R	0.966
9:93452382:A:T	W110R	0.966

dbSNP variants (sampled 300 via entrez): RS1000363955 (9:93451649 G>C), RS1000382028 (9:93445742 C>T), RS1000533616 (9:93452790 A>G), RS1000625591 (9:93446110 A>C), RS1000967783 (9:93453190 G>A,T), RS1001117592 (9:93446922 G>A), RS1001573680 (9:93454450 C>T), RS1001625559 (9:93447416 G>A), RS1001798331 (9:93451528 G>A,C), RS1002842403 (9:93447391 T>G), RS1002873806 (9:93443197 A>G), RS1003068292 (9:93453002 G>A,C), RS1003244634 (9:93449007 T>C), RS1003387042 (9:93444194 C>A,T), RS1003403843 (9:93450526 G>A)

Disease associations

OMIM: gene `` | disease phenotypes: MIM:169300

GenCC curated gene-disease

Mondo (3): scoliosis (MONDO:0005392), pectus excavatum (MONDO:0008213), cutis laxa (MONDO:0016175)

Orphanet (1): Cutis laxa (Orphanet:209)

HPO phenotypes

2 total (2 of 2 shown, HPO-id order):

HPO	Term
HP:0002650	Scoliosis
HP:0000767	Pectus excavatum

GWAS associations

8 associations (top):

Study	Trait	p-value
GCST002894_3	Body mass index	6.000000e-08
GCST006919_2	Ability to confide in someone	2.000000e-09
GCST006923_6	Loneliness	7.000000e-11
GCST006924_2	Loneliness (MTAG)	1.000000e-13
GCST006940_113	Neurociticism	4.000000e-11
GCST006942_8	Feeling lonely	2.000000e-10
GCST006951_19	Feeling hurt	3.000000e-08
GCST90000025_475	Appendicular lean mass	8.000000e-30

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0004340	body mass index
EFO:0009592	social interaction measurement
EFO:0007865	loneliness measurement
EFO:0007660	neuroticism measurement
EFO:0009599	feeling emotionally hurt measurement
EFO:0004980	appendicular lean mass

MeSH disease descriptors (3)

Descriptor	Name	Tree numbers
D003483	Cutis Laxa	C16.320.850.180; C17.300.230; C17.800.827.180
D005660	Funnel Chest	C05.116.099.386; C05.660.386; C16.131.621.386
D012600	Scoliosis	C05.116.900.800.875

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

21 total (human), top 21 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Air Pollutants	affects expression, increases abundance, increases expression	2
Valproic Acid	affects expression, decreases methylation	2
Cyclosporine	decreases expression, increases expression	2
triphenyl phosphate	affects expression	1
2-methyl-4-isothiazolin-3-one	increases expression	1
trichostatin A	affects expression	1
beta-lapachone	increases expression	1
mono-(2-ethylhexyl)phthalate	decreases expression	1
sodium arsenite	increases expression	1
avobenzone	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	decreases expression	1
Sunitinib	increases expression	1
Atrazine	decreases expression	1
Doxorubicin	decreases expression	1
Ozone	affects expression, increases abundance	1
Phthalic Acids	increases methylation	1
Smoke	decreases expression	1
Tobacco Smoke Pollution	increases expression	1
Aflatoxin B1	decreases methylation	1
Particulate Matter	increases abundance, increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00508066	PHASE4	COMPLETED	Continuous Local Infusion of Anesthetic at the Incisional Site for Scoliosis Surgery
NCT00510575	PHASE4	COMPLETED	Surgical Outcomes Using Variable Rod Diameters in the Treatment of Idiopathic Scoliosis
NCT00768313	PHASE4	WITHDRAWN	Phase IV Comparing Rods of Yield Strengths to Correct Adolescent Idiopathic Scoliosis.
NCT00880607	PHASE4	COMPLETED	Intrathecal Morphine Versus Epidural Extended Release Morphine for Pediatric Patients Undergoing Spinal Fusion
NCT00958581	PHASE4	COMPLETED	Tranexamic Acid (TXA) Versus Epsilon Aminocaproic Acid (EACA) Versus Placebo for Spine Surgery
NCT01852747	PHASE4	TERMINATED	Comparison of Actifuse ABX and Local Bone in Spinal Surgery
NCT02464813	PHASE4	COMPLETED	Effect of Pregabalin on Immediate Post-operative and Longterm Pain
NCT02465099	PHASE4	TERMINATED	Posterior Spinal Fusion With Two Energy Dissection Techniques
NCT06540885	PHASE4	RECRUITING	A Comparison Between Palonosetron Versus Granisetron as PONV Prophylaxis in Scoliotic Patients Undergoing Spine Surgery
NCT06616220	PHASE4	COMPLETED	Dexamethasone for ESPB in Pain Management After Pediatric Idiopathic Scoliosis Surgery
NCT06789016	PHASE4	COMPLETED	Dexmedetomidine for ESPB in Pain Management After Pediatric Idiopathic Scoliosis Surgery
NCT01486953	PHASE4	UNKNOWN	Pulmonary Mechanics During Minimally Invasive Repair of Pectus Excavatum
NCT02056301	PHASE4	TERMINATED	A Comparison Trial Between PCA and Epidural Analgesia for Pectus Excavatum Repair
NCT02169297	PHASE4	COMPLETED	Sub-Paraspinal Block in Nuss Patients. A Pilot Project
NCT02721017	PHASE4	COMPLETED	Cryoanalgesia vs. Epidural in the Nuss Procedure
NCT00323752	PHASE3	COMPLETED	Recombinant Human Erythropoietin Compared to Autologous Pre-Donation Prior to Scoliosis Surgery in Children.
NCT00684112	PHASE3	COMPLETED	Analgesic Effects of Gabapentin After Scoliosis Surgery in Children
NCT00737997	PHASE3	COMPLETED	Effect of Early Morphine Administration on the Development of Acute Opioid Tolerance During Pediatric Scoliosis Surgery
NCT01103115	PHASE3	COMPLETED	Calcium + Vitamin D Supplementation for Low Bone Mass in Adolescent Idiopathic Scoliosis (AIS)
NCT01108211	PHASE3	COMPLETED	Improving Low Bone Mass With Vibration Therapy in Adolescent Idiopathic Scoliosis (AIS)
NCT01205256	PHASE3	COMPLETED	IRB-HSR# 14145 R,S Methadone: Analgesia and Pharmacokinetics in Adolescents Undergoing Scoliosis Correction
NCT02558010	PHASE3	COMPLETED	Perioperative Methadone Use to Decrease Opioid Requirement in Pediatric Spinal Fusion Patients
NCT03537612	PHASE3	TERMINATED	Sensorial and Physiological Mechanism-based Assessments of Perioperative Pain
NCT00273598	PHASE2	COMPLETED	Comparing Two Instrumentation Systems for the Treatment of Adolescent Scoliosis
NCT01148888	PHASE2	COMPLETED	The Effect of Magnesium Sulfate on Motor and Somatosensory Evoked Potentials in Children Undergoing Scoliosis Surgery
NCT00154505	PHASE1	COMPLETED	Effects of Lateral Trunk Support on Spinal Alignment in Spinal Cord Injured Persons
NCT00155545	PHASE1	COMPLETED	Influence of Leg Length Discrepancy on the Spinal Shape and Biomechanics in Functional and Idiopathic Scoliosis Patients
NCT00671931	PHASE1	COMPLETED	Susceptibility of Motor-Evoked Potentials to Varying Targeted Blood Levels of Dexmedetomidine
NCT01677650	PHASE1	WITHDRAWN	Pharmacogenomics of Methadone in Spine Fusion Surgery
NCT00207857	Not specified	WITHDRAWN	Test-Retest Reliability of Pulmonary Function Tests in Patients With Duchenne’s Muscular Dystrophy
NCT00256672	Not specified	UNKNOWN	Effectiveness of Bracing in Preventing Scoliosis in Children With Spinal Cord Injury
NCT00320619	Not specified	COMPLETED	Epsilon-Aminocaproaic Acid to Reduce the Need for Blood Transfusions During and Following Spine Surgery
NCT00411060	Not specified	RECRUITING	Clinical Orthopaedic Data Bank (Acute and Chronic)
NCT00445393	Not specified	COMPLETED	Adolescent Idiopathic Scoliosis and Mental Health
NCT00577226	Not specified	TERMINATED	Shilla Growth Permitting Spinal Instrumentation System for Treatment of Scoliosis in the Immature Spine
NCT00680264	Not specified	UNKNOWN	Prospective Database Registry Study of Scoliosis in Children With Cerebral Palsy
NCT00726128	Not specified	COMPLETED	Patient Outcomes Evaluation of the EBI Vuelock™ Anterior Cervical Plate System
NCT00842218	Not specified	UNKNOWN	The Idiopathic Scoliosis and Its Treatment (Orthopaedic and Surgery): Effect of the Severity, the Orthosis and the Arthrodesis on the Gait
NCT00854828	Not specified	COMPLETED	A Multicenter Prospective Study of Quality of Life in Adult Scoliosis
NCT00890227	Not specified	COMPLETED	Incidence of Proximal Junctional Kyphosis (PJK) in Long Posterior Spinal Fusion: A Study Comparing Traditional Open Surgery to Minimally Invasive Percutaneous Technique at the Proximal Fusion Levels