POM121L12

Summary

POM121L12 (POM121 transmembrane nucleoporin like 12, HGNC:25369) is a protein-coding gene on chromosome 7p12.1, encoding POM121-like protein 12 (Q8N7R1).

At a glance

• Gene–disease (curated): Tourette syndrome (No Known Disease Relationship, GenCC)
• GWAS associations: 5
• Clinical variants (ClinVar): 81 total
• MANE Select transcript: NM_182595

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25369
Approved symbol	POM121L12
Name	POM121 transmembrane nucleoporin like 12
Location	7p12.1
Locus type	gene with protein product
Status	Approved
Aliases	DKFZp564N2472
Ensembl gene	ENSG00000221900
Ensembl biotype	protein_coding
Entrez	285877

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000408890

RefSeq mRNA: 1 — MANE Select: NM_182595 NM_182595

CCDS: CCDS43584

Canonical transcript exons

ENST00000408890 — 1 exons

Exon	Start	End
ENSE00001572895	53035633	53036925

Expression profiles

Bgee: expression breadth tissue_specific, 9 present calls, max score 75.18.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0550 / max 55.0324, expressed in 3 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
78658	0.0550	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left testis	UBERON:0004533	75.18	gold quality
right testis	UBERON:0004534	73.58	gold quality
parotid gland	UBERON:0001831	72.58	gold quality
testis	UBERON:0000473	72.48	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	63.59	gold quality
sperm	CL:0000019	62.88	gold quality
upper leg skin	UBERON:0004262	61.39	silver quality
mammary duct	UBERON:0001765	60.70	gold quality
cardia of stomach	UBERON:0001162	59.02	gold quality
epithelium of nasopharynx	UBERON:0001951	57.29	gold quality
buccal mucosa cell	CL:0002336	57.04	gold quality
tendon of biceps brachii	UBERON:0008188	57.02	gold quality
myocardium	UBERON:0002349	56.73	gold quality
saphenous vein	UBERON:0007318	56.34	gold quality
subthalamic nucleus	UBERON:0001906	56.31	gold quality
deltoid	UBERON:0001476	56.26	gold quality
pericardium	UBERON:0002407	56.26	gold quality
layer of synovial tissue	UBERON:0007616	56.13	gold quality
inferior vagus X ganglion	UBERON:0005363	56.04	gold quality
dorsal root ganglion	UBERON:0000044	55.97	gold quality
dorsal plus ventral thalamus	UBERON:0001897	55.94	gold quality
trigeminal ganglion	UBERON:0001675	55.88	gold quality
nipple	UBERON:0002030	55.88	gold quality
synovial joint	UBERON:0002217	55.81	gold quality
pylorus	UBERON:0001166	55.69	gold quality
medulla oblongata	UBERON:0001896	55.64	gold quality
renal medulla	UBERON:0000362	55.62	gold quality
superior surface of tongue	UBERON:0007371	55.59	gold quality
pons	UBERON:0000988	55.55	gold quality
heart right ventricle	UBERON:0002080	55.55	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.33

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

36 targeting POM121L12, 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-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-4500	99.99	72.72	2367
HSA-LET-7A-5P	99.98	72.29	1790
HSA-LET-7B-5P	99.98	72.31	1790
HSA-LET-7C-5P	99.98	72.29	1790
HSA-LET-7E-5P	99.98	72.29	1790
HSA-LET-7F-5P	99.98	72.56	1784
HSA-LET-7G-5P	99.98	72.37	1784
HSA-LET-7I-5P	99.98	72.37	1788
HSA-MIR-98-5P	99.98	72.33	1787
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-4307	99.82	70.45	3374
HSA-MIR-1255A	99.74	68.09	744
HSA-MIR-1255B-5P	99.74	68.16	741
HSA-MIR-33A-3P	99.70	70.27	3362
HSA-MIR-1284	99.67	73.56	1353
HSA-MIR-1207-5P	99.49	69.11	2983
HSA-MIR-4441	99.49	66.56	3216
HSA-MIR-4763-3P	99.10	67.83	2649
HSA-MIR-6829-5P	98.86	65.12	1480
HSA-MIR-6846-5P	98.81	65.86	1121
HSA-MIR-6848-5P	98.81	65.49	1126
HSA-MIR-4436B-3P	98.25	65.26	1494
HSA-MIR-6847-5P	97.93	66.74	1808
HSA-MIR-4638-3P	97.90	65.75	905
HSA-MIR-6879-5P	97.77	65.52	1521

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	pom121	ENSDARG00000055113
mus_musculus	Pom121l12	ENSMUSG00000084135
rattus_norvegicus	Pom121l12	ENSRNOG00000050580
drosophila_melanogaster	Nup153	FBGN0061200

Paralogs (6): NUP153 (ENSG00000124789), NUP214 (ENSG00000126883), POM121L2 (ENSG00000158553), NPAP1 (ENSG00000185823), POM121 (ENSG00000196313), POM121C (ENSG00000272391)

Protein

Protein identifiers

POM121-like protein 12 — Q8N7R1 (reviewed: Q8N7R1)

All UniProt accessions (1): Q8N7R1

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the POM121 family.

RefSeq proteins (1): NP_872401* (*=MANE)

Domains & families (InterPro)

Pfam: PF15229

UniProt features (8 total): sequence variant 3, region of interest 2, chain 1, compositionally biased region 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8N7R1-F1	52.41	0.01

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 23 (showing top): ACEVEDO_METHYLATED_IN_LIVER_CANCER_DN, chr7p12, RATTENBACHER_BOUND_BY_CELF1, NFE2L2.V2, MIR6721_5P, MIR1284, GSE13485_DAY1_VS_DAY3_YF17D_VACCINE_PBMC_UP, GSE13485_DAY3_VS_DAY21_YF17D_VACCINE_PBMC_DN, GSE14000_UNSTIM_VS_4H_LPS_DC_TRANSLATED_RNA_DN, GSE14026_TH1_VS_TH17_DN, GSE14308_TH2_VS_INDUCED_TREG_DN, GSE18791_UNSTIM_VS_NEWCATSLE_VIRUS_DC_2H_UP, GSE2405_0H_VS_9H_A_PHAGOCYTOPHILUM_STIM_NEUTROPHIL_UP, GSE2405_HEAT_KILLED_VS_LIVE_A_PHAGOCYTOPHILUM_STIM_NEUTROPHIL_24H_DN, GSE5589_LPS_VS_LPS_AND_IL10_STIM_IL10_KO_MACROPHAGE_180MIN_UP

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

176 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
POM121L12	OR4K2	Q8NGD2	519
POM121L12	OR13C4	Q8NGS5	447
POM121L12	OR13C8	Q8NGS7	405
POM121L12	ZNF716	A6NP11	399
POM121L12	VSTM2A	Q8TAG5	393
POM121L12	OR4C3	Q8NH37	370
POM121L12	ELAPOR2	A8MWY0	322
POM121L12	PHTF1	Q9UMS5	317
POM121L12	C16orf54	Q6UWD8	316
POM121L12	ZNF479	Q96JC4	314
POM121L12	CDC14C	A4D256	311
POM121L12	ZNF713	Q8N859	307
POM121L12	CRYBG3	Q68DQ2	303
POM121L12	ADAM20	O43506	302
POM121L12	COBL	O75128	299

IntAct

2 interactions, top by confidence:

A	B	Type	Score
Prdm16	ESYT2	psi-mi:“MI:0914”(association)	0.350

BioGRID (2): POM121L12 (Affinity Capture-MS), POM121L12 (Protein-peptide)

ESM2 similar proteins: A0A3Q1LFG5, A1L4Q6, A8MQB3, A8MWP4, A8MZ25, C0HM98, C9JC47, P0DMU3, P0DPA3, P58512, P59020, P59021, P86434, Q0IIN9, Q0VFX4, Q4VX62, Q52M75, Q5SR53, Q5T036, Q5W150, Q6PRD7, Q6ZN03, Q6ZSK4, Q6ZUF6, Q6ZUU3, Q6ZV77, Q6ZV80, Q6ZWC4, Q7Z4H9, Q86UQ8, Q8JMZ5, Q8JN06, Q8N1D0, Q8N2B8, Q8N2X6, Q8N3U1, Q8N7R1, Q8N9X3, Q8NAA6, Q8NDY4

Diamond homologs: A6NF01, A6NNC1, A8CG34, P52591, Q3SYA9, Q6PJE2, Q8K3Z9, Q8N7R1, Q96HA1, Q96KW2, Q5SW25

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	77
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

376 predictions. Top by Δscore:

Variant	Effect	Δscore
7:53035947:G:GA	donor_gain	0.9000
7:53036438:T:A	acceptor_gain	0.8400
7:53035946:T:TA	donor_gain	0.8100
7:53036234:G:T	donor_gain	0.7700
7:53035719:G:GT	donor_gain	0.7600
7:53035726:G:GT	donor_gain	0.7300
7:53036365:AGGC:A	acceptor_gain	0.6700
7:53035720:A:T	donor_gain	0.6100
7:53036114:A:T	donor_gain	0.6100
7:53035863:G:GG	donor_gain	0.5900
7:53036234:G:GT	donor_gain	0.5900
7:53035862:A:AG	donor_gain	0.5800
7:53036364:CAGG:C	acceptor_gain	0.5800
7:53036559:C:G	donor_gain	0.5800
7:53036286:TGGC:T	donor_gain	0.5700
7:53035724:C:T	donor_gain	0.5600
7:53035999:C:T	donor_gain	0.5600
7:53036196:G:GT	donor_gain	0.5600
7:53036233:G:GT	donor_gain	0.5600
7:53036287:GGC:G	donor_gain	0.5600
7:53036433:C:CA	acceptor_gain	0.5600
7:53035710:G:T	donor_gain	0.5500
7:53036417:A:AG	donor_gain	0.5500
7:53035773:C:T	donor_gain	0.5400
7:53036323:A:AC	acceptor_gain	0.5400
7:53036527:G:T	acceptor_gain	0.5400
7:53035710:G:GT	donor_gain	0.5300
7:53036173:G:GT	donor_gain	0.5300
7:53036445:GCCC:G	acceptor_gain	0.5300
7:53035904:TCGAG:T	donor_loss	0.5200

AlphaMissense

1899 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:53036320:T:C	F217L	0.986
7:53036322:C:A	F217L	0.986
7:53036322:C:G	F217L	0.986
7:53036356:T:C	F229L	0.968
7:53036358:C:A	F229L	0.968
7:53036358:C:G	F229L	0.968
7:53036321:T:C	F217S	0.939
7:53036321:T:G	F217C	0.935
7:53036320:T:A	F217I	0.909
7:53036320:T:G	F217V	0.877
7:53036363:C:A	P231H	0.865
7:53036245:T:C	F192L	0.858
7:53036247:C:A	F192L	0.858
7:53036247:C:G	F192L	0.858
7:53036357:T:C	F229S	0.858
7:53036074:A:C	S135R	0.856
7:53036076:C:A	S135R	0.856
7:53036076:C:G	S135R	0.856
7:53036325:G:C	K218N	0.856
7:53036325:G:T	K218N	0.856
7:53036357:T:G	F229C	0.827
7:53036337:A:C	K222N	0.801
7:53036337:A:T	K222N	0.801
7:53036362:C:A	P231T	0.793
7:53036475:G:C	W268C	0.786
7:53036475:G:T	W268C	0.786
7:53036372:G:A	G234E	0.785
7:53036518:T:C	F283L	0.782
7:53036520:C:A	F283L	0.782
7:53036520:C:G	F283L	0.782

dbSNP variants (sampled 300 via entrez): RS1001273523 (7:53036688 C>G,T), RS1001380725 (7:53037091 A>G,T), RS1001723182 (7:53034358 A>C), RS1001824387 (7:53036995 A>G,T), RS1003129009 (7:53034006 A>C), RS1003869221 (7:53033801 T>A), RS1004125524 (7:53035222 C>T), RS1007216157 (7:53035672 A>G,T), RS1007620164 (7:53034740 C>A), RS1008290813 (7:53037124 A>G), RS1008648432 (7:53036457 C>A,G,T), RS1009620374 (7:53036135 G>T), RS1009682431 (7:53034983 G>T), RS1010016462 (7:53033886 T>C), RS1010376825 (7:53034104 T>C)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
Tourette syndrome	No Known Disease Relationship	Unknown

Mondo (1): Tourette syndrome (MONDO:0007661)

Orphanet (0):

HPO phenotypes

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

GWAS associations

5 associations (top):

Study	Trait	p-value
GCST002828_27	Urate levels in obese individuals	8.000000e-06
GCST006448_2	Eye movement in schizophrenia (horizontal position gain)	4.000000e-08
GCST007327_43	Smoking status (ever vs never smokers)	1.000000e-08
GCST008170_8	Thyroglobulin plasma levels	4.000000e-06
GCST009443_3	Age-related cognitive decline (visuospatial skill) (slope of z-scores)	3.000000e-06

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0004531	urate measurement
EFO:0004318	smoking behavior
EFO:0010050	thyroglobulin measurement
EFO:0007710	cognitive decline measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
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: no

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

CTD chemical–gene interactions

5 total (human), top 5 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Resveratrol	affects cotreatment, decreases expression	1
Atrazine	increases expression	1
Benzo(a)pyrene	decreases methylation	1
Plant Extracts	affects cotreatment, decreases expression	1
Valproic Acid	increases methylation	1

Clinical trials (associated diseases)

183 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
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
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
NCT02679079	PHASE2	COMPLETED	Safety and Efficacy Study of NBI-98854 in Children and Adolescents With Tourette Syndrome
NCT02879578	PHASE2	COMPLETED	Safety and Tolerability Study of NBI-98854 for the Treatment of Subjects With Tourette Syndrome
NCT03066193	PHASE2	COMPLETED	Efficacy of a Therapeutic Combination of Dronabinol and PEA for Tourette Syndrome
NCT03247244	PHASE2	TERMINATED	Safety and Efficacy of Cannabis in Tourette Syndrome
NCT03325010	PHASE2	COMPLETED	Safety, Tolerability, and Efficacy of NBI-98854 for the Treatment of Pediatric Subjects With Tourette Syndrome
NCT03444038	PHASE2	COMPLETED	Open-Label Safety and Tolerability Study of NBI-98854 for the Treatment of Pediatric Subjects With Tourette Syndrome