POM121C

Summary

POM121C (POM121 transmembrane nucleoporin C, HGNC:34005) is a protein-coding gene on chromosome 7q11.23, encoding Nuclear envelope pore membrane protein POM 121C (A8CG34). Essential component of the nuclear pore complex (NPC). It is a selective cancer dependency (DepMap: 62.3% of cell lines).

Predicted to enable nuclear localization sequence binding activity. Predicted to be a structural constituent of nuclear pore. Predicted to be involved in RNA export from nucleus and protein import into nucleus. Located in nuclear membrane and nucleoplasm.

Source: NCBI Gene 100101267 — RefSeq curated summary.

At a glance

• Gene–disease (curated): schizophrenia (No Known Disease Relationship, GenCC)
• GWAS associations: 6
• Clinical variants (ClinVar): 212 total
• Cancer dependency (DepMap): dependent in 62.3% of screened cell lines
• MANE Select transcript: NM_001099415

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:34005
Approved symbol	POM121C
Name	POM121 transmembrane nucleoporin C
Location	7q11.23
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000272391
Ensembl biotype	protein_coding
OMIM	615754
Entrez	100101267

Gene structure

Transcript identifiers

Ensembl transcripts: 17 — 13 protein_coding, 3 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000398379, ENST00000439629, ENST00000473168, ENST00000473609, ENST00000479864, ENST00000607367, ENST00000614583, ENST00000615331, ENST00000874767, ENST00000874768, ENST00000874769, ENST00000874770, ENST00000874771, ENST00000913321, ENST00000913322, ENST00000913323, ENST00000913324

RefSeq mRNA: 1 — MANE Select: NM_001099415 NM_001099415

CCDS: CCDS47617

Canonical transcript exons

ENST00000615331 — 15 exons

Exon	Start	End
ENSE00001532998	75474704	75474882
ENSE00003579876	75441432	75441647
ENSE00003668095	75475062	75475188
ENSE00003695431	75440954	75441115
ENSE00003695676	75425074	75425195
ENSE00003697454	75424049	75424225
ENSE00003698035	75437515	75437686
ENSE00003698401	75439144	75439224
ENSE00003699200	75419320	75419442
ENSE00003699231	75424526	75424628
ENSE00003700461	75421509	75423203
ENSE00003726000	75416786	75418893
ENSE00003727484	75426362	75426453
ENSE00003731823	75425635	75425708
ENSE00003741163	75485864	75486299

Expression profiles

Bgee: expression breadth ubiquitous, 134 present calls, max score 93.25.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.0609 / max 43.0608, expressed in 1690 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
84369	5.7772	1658
204491	0.2837	114

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
islet of Langerhans	UBERON:0000006	93.25	gold quality
sural nerve	UBERON:0015488	92.64	gold quality
stromal cell of endometrium	CL:0002255	92.45	gold quality
bone marrow	UBERON:0002371	91.99	gold quality
bone marrow cell	CL:0002092	91.08	gold quality
right hemisphere of cerebellum	UBERON:0014890	91.04	gold quality
tonsil	UBERON:0002372	90.91	gold quality
cerebellum	UBERON:0002037	90.68	gold quality
cerebellar hemisphere	UBERON:0002245	90.67	gold quality
cerebellar cortex	UBERON:0002129	90.65	gold quality
granulocyte	CL:0000094	90.64	gold quality
ovary	UBERON:0000992	90.52	gold quality
left ovary	UBERON:0002119	90.47	gold quality
smooth muscle tissue	UBERON:0001135	90.33	gold quality
right ovary	UBERON:0002118	90.13	gold quality
ventricular zone	UBERON:0003053	90.02	gold quality
vermiform appendix	UBERON:0001154	89.98	gold quality
skeletal muscle tissue	UBERON:0001134	89.85	gold quality
lymph node	UBERON:0000029	89.48	gold quality
body of uterus	UBERON:0009853	89.39	gold quality
pancreas	UBERON:0001264	89.34	gold quality
left uterine tube	UBERON:0001303	89.30	gold quality
fallopian tube	UBERON:0003889	89.27	gold quality
gastrocnemius	UBERON:0001388	89.07	gold quality
muscle of leg	UBERON:0001383	88.98	gold quality
placenta	UBERON:0001987	88.97	gold quality
skin of leg	UBERON:0001511	88.94	gold quality
subcutaneous adipose tissue	UBERON:0002190	88.90	gold quality
uterine cervix	UBERON:0000002	88.86	gold quality
muscle tissue	UBERON:0002385	88.85	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	9.52

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

89 targeting POM121C, 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-1252-5P	100.00	69.80	2774
HSA-MIR-450A-1-3P	100.00	69.33	1837
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-6740-5P	100.00	65.64	932
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-150-5P	99.99	66.69	1976
HSA-MIR-485-3P	99.98	70.68	1585
HSA-MIR-539-3P	99.98	70.74	1616
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-23A-3P	99.95	74.24	3163
HSA-MIR-23B-3P	99.95	74.24	3163
HSA-MIR-23C	99.95	73.92	3192
HSA-MIR-128-3P	99.95	71.17	2484
HSA-MIR-216A-3P	99.95	71.19	2505
HSA-MIR-497-5P	99.92	71.83	2674
HSA-MIR-1297	99.91	73.41	3162
HSA-MIR-15A-5P	99.90	72.80	2787
HSA-MIR-15B-5P	99.90	72.78	2798
HSA-MIR-16-5P	99.90	72.80	2780
HSA-MIR-195-5P	99.90	72.81	2805
HSA-MIR-6838-5P	99.89	71.94	2690
HSA-MIR-424-5P	99.89	71.90	2641
HSA-MIR-7162-3P	99.89	68.16	1682
HSA-MIR-3681-3P	99.88	70.46	2254
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-629-3P	99.85	67.99	1875
HSA-MIR-6739-5P	99.80	67.87	2806
HSA-MIR-4668-5P	99.79	70.58	3782

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 62.3% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 1)

• Gene expression and adipocyte functional studies support the notion that FAM13A and POM121C control adipocyte lipolysis and adipogenesis, respectively, and might thereby be involved in genetic control of systemic insulin sensitivity (PMID:29487953)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	pom121	ENSDARG00000055113
mus_musculus	Pom121	ENSMUSG00000053293
rattus_norvegicus	Pom121	ENSRNOG00000001449
drosophila_melanogaster	Nup153	FBGN0061200

Paralogs (6): NUP153 (ENSG00000124789), NUP214 (ENSG00000126883), POM121L2 (ENSG00000158553), NPAP1 (ENSG00000185823), POM121 (ENSG00000196313), POM121L12 (ENSG00000221900)

Protein

Protein identifiers

Nuclear envelope pore membrane protein POM 121C — A8CG34 (reviewed: A8CG34)

Alternative names: Nuclear pore membrane protein 121-2, Pore membrane protein of 121 kDa C

All UniProt accessions (3): A8CG34, A8MY32, C9JFL1

UniProt curated annotations — full annotation on UniProt →

Function. Essential component of the nuclear pore complex (NPC). The repeat-containing domain may be involved in anchoring components of the pore complex to the pore membrane. When overexpressed in cells induces the formation of cytoplasmic annulate lamellae (AL).

Subcellular location. Nucleus. Nuclear pore complex. Nucleus membrane. Endoplasmic reticulum membrane.

Domain organisation. Contains F-X-F-G repeats.

Similarity. Belongs to the POM121 family.

Isoforms (2)

UniProt ID	Names	Canonical?
A8CG34-1	1	yes
A8CG34-2	2

RefSeq proteins (1): NP_001092885* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR026054	Nucleoporin	Family

Pfam: PF15229

UniProt features (40 total): compositionally biased region 14, region of interest 9, modified residue 6, sequence conflict 6, sequence variant 2, chain 1, transmembrane region 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A8CG34-F1	43.45	0.04

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 (6): 81, 322, 328, 348, 370, 373

Function

Pathways and Gene Ontology

Reactome pathways

31 pathways

ID	Pathway
R-HSA-1169408	ISG15 antiviral mechanism
R-HSA-159227	Transport of the SLBP independent Mature mRNA
R-HSA-159230	Transport of the SLBP Dependant Mature mRNA
R-HSA-159231	Transport of Mature mRNA Derived from an Intronless Transcript
R-HSA-159236	Transport of Mature mRNA derived from an Intron-Containing Transcript
R-HSA-165054	Rev-mediated nuclear export of HIV RNA
R-HSA-168271	Transport of Ribonucleoproteins into the Host Nucleus
R-HSA-168276	NS1 Mediated Effects on Host Pathways
R-HSA-168325	Viral Messenger RNA Synthesis
R-HSA-168333	NEP/NS2 Interacts with the Cellular Export Machinery
R-HSA-170822	Regulation of Glucokinase by Glucokinase Regulatory Protein
R-HSA-180746	Nuclear import of Rev protein
R-HSA-180910	Vpr-mediated nuclear import of PICs
R-HSA-1855170	IPs transport between nucleus and cytosol
R-HSA-1855196	IP3 and IP4 transport between cytosol and nucleus
R-HSA-1855229	IP6 and IP7 transport between cytosol and nucleus
R-HSA-191859	snRNP Assembly
R-HSA-3108214	SUMOylation of DNA damage response and repair proteins
R-HSA-3232142	SUMOylation of ubiquitinylation proteins
R-HSA-3301854	Nuclear Pore Complex (NPC) Disassembly
R-HSA-3371453	Regulation of HSF1-mediated heat shock response
R-HSA-4085377	SUMOylation of SUMOylation proteins
R-HSA-4551638	SUMOylation of chromatin organization proteins
R-HSA-4570464	SUMOylation of RNA binding proteins
R-HSA-4615885	SUMOylation of DNA replication proteins
R-HSA-5578749	Transcriptional regulation by small RNAs
R-HSA-5619107	Defective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC)
R-HSA-6784531	tRNA processing in the nucleus
R-HSA-9609690	HCMV Early Events
R-HSA-9610379	HCMV Late Events

MSigDB gene sets: 118 (showing top): REACTOME_INTERACTIONS_OF_VPR_WITH_HOST_CELLULAR_PROTEINS, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, REACTOME_VIRAL_MESSENGER_RNA_SYNTHESIS, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ORGANELLE, GOBP_NUCLEAR_TRANSPORT, REACTOME_HIV_INFECTION, REACTOME_PROCESSING_OF_CAPPED_INTRON_CONTAINING_PRE_MRNA, GOBP_NUCLEOBASE_CONTAINING_COMPOUND_TRANSPORT, GOBP_PROTEIN_LOCALIZATION_TO_ORGANELLE, chr7q11, GOBP_NUCLEAR_EXPORT, GOBP_RNA_LOCALIZATION, GOBP_PROTEIN_LOCALIZATION_TO_NUCLEUS, REACTOME_METABOLISM_OF_RNA

GO Biological Process (4): RNA export from nucleus (GO:0006405), protein import into nucleus (GO:0006606), mRNA transport (GO:0051028), protein transport (GO:0015031)

GO Molecular Function (3): nuclear localization sequence binding (GO:0008139), structural constituent of nuclear pore (GO:0017056), protein binding (GO:0005515)

GO Cellular Component (8): nuclear envelope (GO:0005635), nuclear pore (GO:0005643), nucleoplasm (GO:0005654), endoplasmic reticulum membrane (GO:0005789), nuclear membrane (GO:0031965), nucleus (GO:0005634), endoplasmic reticulum (GO:0005783), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-14 pathways:

Category	Pathways
Transport of Mature mRNAs Derived from Intronless Transcripts	3
Inositol phosphate metabolism	3
Interactions of Rev with host cellular proteins	2
Influenza Infection	2
SUMO E3 ligases SUMOylate target proteins	2
Antimicrobial mechanism of IFN-stimulated genes	1
Transport of Mature Transcript to Cytoplasm	1
Late Phase of HIV Life Cycle	1
Influenza Viral RNA Transcription and Replication	1
Export of Viral Ribonucleoproteins from Nucleus	1
Glycolysis	1
Interactions of Vpr with host cellular proteins	1
Metabolism of non-coding RNA	1
Nuclear Envelope Breakdown	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
RNA transport	2
nucleus	2
endomembrane system	2
nuclear envelope	2
cellular anatomical structure	2
organelle membrane	2
intracellular membrane-bounded organelle	2
nuclear export	1
intracellular protein transport	1
protein localization to nucleus	1
import into nucleus	1
establishment of protein localization to organelle	1
transport	1
intracellular protein localization	1
establishment of protein localization	1
signal sequence receptor activity	1
structural molecule activity	1
nuclear pore	1
nucleocytoplasmic transport	1
binding	1
organelle envelope	1
nuclear protein-containing complex	1
nuclear lumen	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
cytoplasm	1

Protein interactions and networks

STRING

1700 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
POM121C	NUP210	Q8TEM1	625
POM121C	NUP85	Q9BW27	491
POM121C	NUP205	Q92621	486
POM121C	NUP93	Q8N1F7	456
POM121C	NUP35	Q8NFH5	446
POM121C	NUP107	P57740	439
POM121C	KPNB1	Q14974	417
POM121C	NUP210L	Q5VU65	411
POM121C	NUP153	P49790	404
POM121C	NUP214	P35658	399
POM121C	AUTS2	Q8WXX7	395
POM121C	NUP188	Q5SRE5	387
POM121C	GLE1	Q53GS7	373
POM121C	ZNF641	Q96N77	370
POM121C	NUP155	O75694	368
POM121C	NUP88	Q99567	368

IntAct

44 interactions, top by confidence:

A	B	Type	Score
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
PCNA	POM121C	psi-mi:“MI:0914”(association)	0.550
PCNA	POM121C	psi-mi:“MI:0915”(physical association)	0.550
KPNB1	POM121C	psi-mi:“MI:0914”(association)	0.530
ESR2	FBLL1	psi-mi:“MI:0914”(association)	0.460
POM121C	CHRM3	psi-mi:“MI:0915”(physical association)	0.370
STAT5A	POM121C	psi-mi:“MI:0915”(physical association)	0.370
Nup98	POM121C	psi-mi:“MI:0914”(association)	0.350
Nup107	POM121C	psi-mi:“MI:0914”(association)	0.350
Ranbp2	POM121C	psi-mi:“MI:0914”(association)	0.350
Ube2i	POM121C	psi-mi:“MI:0914”(association)	0.350
NUP153	POM121C	psi-mi:“MI:0914”(association)	0.350
SEH1L	POM121C	psi-mi:“MI:0914”(association)	0.350
NUP107	POM121C	psi-mi:“MI:0914”(association)	0.350
SLC39A12	POM121C	psi-mi:“MI:0914”(association)	0.350
DYRK1B	POM121C	psi-mi:“MI:0914”(association)	0.350
KLF8		psi-mi:“MI:0914”(association)	0.350
SYNGAP1	POM121C	psi-mi:“MI:0914”(association)	0.350
SYNGAP1	POTEF	psi-mi:“MI:0914”(association)	0.350
KPNA2	POM121C	psi-mi:“MI:0914”(association)	0.350
KPNA3	POM121C	psi-mi:“MI:0914”(association)	0.350
KPNA4	POM121C	psi-mi:“MI:0914”(association)	0.350
AFG2A	ESYT2	psi-mi:“MI:0914”(association)	0.350
SLC15A3	GXYLT2	psi-mi:“MI:0914”(association)	0.350
SLC30A7	ESYT2	psi-mi:“MI:0914”(association)	0.350
SLC39A12	ESYT2	psi-mi:“MI:0914”(association)	0.350
SLC39A14	ESYT2	psi-mi:“MI:0914”(association)	0.350

ESM2 similar proteins: A0JME2, A5H447, A6NF01, A8CG34, E9Q3G8, F4ID16, G0SDP9, G5E8Z2, O08587, O15504, O88797, O95081, P20676, P49790, P49791, P52591, P52594, P98082, Q03173, Q0VA45, Q2TA45, Q4KLH5, Q5FVW4, Q5PRE5, Q5RB98, Q5SV85, Q5XGN1, Q5ZI22, Q5ZIE8, Q5ZM88, Q64028, Q640Z6, Q6P0U9, Q80WC7, Q86XN7, Q8CIC2, Q8K2K6, Q8K3Z9, Q8L7F7, Q8R080

Diamond homologs: A6NF01, A6NNC1, A8CG34, P52591, Q3SYA9, Q8K3Z9, Q96HA1, Q96KW2, Q6PJE2, Q8N7R1, P10761, P21754, P23491, P42098, P48830, P48831, P48832, P48833, P53785, P53786, P79762, P97708, Q5SW25

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 42 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
NS1 Mediated Effects on Host Pathways	7	83.3×	3e-10
ISG15 antiviral mechanism	7	43.8×	2e-08
SLC-mediated transmembrane transport	5	12.3×	6e-04
Cytokine Signaling in Immune system	5	8.5×	2e-03

GO biological processes:

GO term	Partners	Fold	FDR
protein import into nucleus	8	32.0×	3e-08

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	171
Likely benign	25
Benign	3

Top pathogenic / likely-pathogenic (0)

SpliceAI

2281 predictions. Top by Δscore:

Variant	Effect	Δscore
7:75419318:A:AC	donor_gain	1.0000
7:75419319:C:CC	donor_gain	1.0000
7:75419443:C:A	acceptor_loss	1.0000
7:75424523:T:TG	donor_loss	1.0000
7:75424524:A:AC	donor_gain	1.0000
7:75424525:C:CC	donor_gain	1.0000
7:75424525:CCA:C	donor_gain	1.0000
7:75424525:CCAC:C	donor_loss	1.0000
7:75424525:CCACT:C	donor_gain	1.0000
7:75424624:GGAGG:G	acceptor_gain	1.0000
7:75424625:GAGG:G	acceptor_gain	1.0000
7:75424626:AGG:A	acceptor_gain	1.0000
7:75424627:GG:G	acceptor_gain	1.0000
7:75424628:GC:G	acceptor_loss	1.0000
7:75424629:C:CC	acceptor_gain	1.0000
7:75424633:C:CT	acceptor_gain	1.0000
7:75424633:C:T	acceptor_gain	1.0000
7:75424634:A:T	acceptor_gain	1.0000
7:75425196:C:CC	acceptor_gain	1.0000
7:75425631:CTACC:C	donor_loss	1.0000
7:75425632:TAC:T	donor_loss	1.0000
7:75425633:A:AC	donor_gain	1.0000
7:75425633:A:AT	donor_loss	1.0000
7:75425633:AC:A	donor_gain	1.0000
7:75425633:ACC:A	donor_gain	1.0000
7:75425634:C:A	donor_loss	1.0000
7:75425634:C:CC	donor_gain	1.0000
7:75425634:CC:C	donor_gain	1.0000
7:75425634:CCC:C	donor_gain	1.0000
7:75425704:CTTCT:C	acceptor_gain	1.0000

AlphaMissense

6310 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:75418817:C:A	R1223S	0.996
7:75418817:C:G	R1223S	0.996
7:75437545:A:C	S392R	0.996
7:75437545:A:T	S392R	0.996
7:75437547:T:G	S392R	0.996
7:75418874:A:C	F1204L	0.995
7:75418874:A:T	F1204L	0.995
7:75418876:A:G	F1204L	0.995
7:75437536:G:C	S395R	0.994
7:75437536:G:T	S395R	0.994
7:75437538:T:G	S395R	0.994
7:75418818:C:A	R1223M	0.992
7:75418818:C:G	R1223T	0.992
7:75437552:A:T	I390N	0.990
7:75418875:A:G	F1204S	0.988
7:75437552:A:C	I390S	0.987
7:75437552:A:G	I390T	0.987
7:75441029:A:T	L293H	0.986
7:75439188:A:C	F330L	0.985
7:75439188:A:T	F330L	0.985
7:75439190:A:G	F330L	0.985
7:75418869:A:T	I1206N	0.984
7:75437557:A:C	N388K	0.984
7:75437557:A:T	N388K	0.984
7:75418875:A:C	F1204C	0.983
7:75437546:C:A	S392I	0.983
7:75441468:A:C	I252S	0.982
7:75441468:A:G	I252T	0.981
7:75426412:G:C	S416R	0.979
7:75426412:G:T	S416R	0.979

dbSNP variants (sampled 300 via entrez): RS10235892 (7:75450301 G>A), RS10237410 (7:75440338 T>C,G), RS10239780 (7:75451073 G>A,T), RS10244237 (7:75482347 G>A), RS10249121 (7:75434806 C>T), RS10252236 (7:75479541 A>G), RS10252357 (7:75479616 T>A), RS10252425 (7:75484250 G>A), RS10254705 (7:75416531 C>T), RS10258259 (7:75476128 A>T), RS10260309 (7:75450683 T>C), RS10265088 (7:75482251 T>C), RS10267366 (7:75484660 C>A,G,T), RS10269591 (7:75484104 A>C,G), RS10270161 (7:75438611 G>A,C)

Disease associations

OMIM: gene MIM:615754 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
schizophrenia	No Known Disease Relationship	Unknown

Mondo (1): schizophrenia (MONDO:0005090)

Orphanet (0):

HPO phenotypes

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

GWAS associations

6 associations (top):

Study	Trait	p-value
GCST001762_563	Obesity-related traits	3.000000e-06
GCST006624_74	Systolic blood pressure	1.000000e-11
GCST008361_9	Response to cognitive-behavioural therapy in major depressive disorder	6.000000e-06
GCST009890_14	Parental lifespan	1.000000e-06
GCST010988_159	Adult body size	9.000000e-24
GCST90013405_32	Liver enzyme levels (alanine transaminase)	9.000000e-11

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0003939	energy intake
EFO:0006335	systolic blood pressure
EFO:0007820	cognitive behavioural therapy
EFO:0007796	parental longevity

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

20 total (human), top 20 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases abundance, increases expression	2
aristolochic acid I	increases expression	1
FR900359	affects phosphorylation	1
dicrotophos	increases expression	1
triphenyl phosphate	affects expression	1
coumarin	affects phosphorylation	1
di-n-butylphosphoric acid	affects expression	1
ICG 001	increases 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	increases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Arsenic	increases abundance, increases expression	1
Benzo(a)pyrene	increases methylation	1
Cadmium	decreases expression, increases abundance	1
Caffeine	affects phosphorylation	1
Enzyme Inhibitors	decreases activity, increases O-linked glycosylation	1
Estradiol	increases expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Quercetin	increases phosphorylation	1
Smoke	decreases expression	1
Cadmium Chloride	decreases expression, increases abundance	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00000374	PHASE4	COMPLETED	Treatment for First-Episode Schizophrenia
NCT00001656	PHASE4	COMPLETED	Comparison of Clozapine vs Olanzapine in Childhood-Onset Psychotic Disorders
NCT00007774	PHASE4	COMPLETED	To Determine if Olanzapine is More Cost Effective Than Haloperidol for the Treatment of Schizophrenia
NCT00014001	PHASE4	COMPLETED	CATIE- Schizophrenia Trial
NCT00018668	PHASE4	COMPLETED	Antipsychotic Response in Schizophrenia
NCT00034801	PHASE4	COMPLETED	Olanzapine Versus Active Comparator in the Treatment of Depression in Patients With Schizophrenia
NCT00034905	PHASE4	COMPLETED	A Comparison of Seroquel vs. Risperidone in Schizophrenia
NCT00036088	PHASE4	COMPLETED	Olanzapine Versus An Active Comparator in the Treatment of Schizophrenia
NCT00044187	PHASE4	COMPLETED	The Assessment of a Weight-Gain Agent for the Treatment of Olanzapine-Associated Anti-Obesity Agent in Patients With Schizophrenia, Schizophreniform Disorder, Schizoaffective Disorder, and Bipolar I Disorder
NCT00044655	PHASE4	COMPLETED	Switching Medication to Treat Schizophrenia
NCT00048828	PHASE4	COMPLETED	Treating Drug-Resistant Childhood Schizophrenia
NCT00053703	PHASE4	COMPLETED	Treatment of Early Onset Schizophrenia Spectrum Disorders (TEOSS)
NCT00056498	PHASE4	COMPLETED	Risperidone Treatment in Schizophrenia Patients Who Are Currently Taking Clozapine
NCT00061802	PHASE4	COMPLETED	Efficacy and Safety of Two Atypical Antipsychotics vs. Placebo in Patients With an Acute Exacerbation of Either Schizophrenia or Schizoaffective Disorder
NCT00080327	PHASE4	COMPLETED	Study of Three Doses of Aripiprazole in Patients With Acute Schizophrenia
NCT00088049	PHASE4	COMPLETED	Study of Olanzapine vs. Aripiprazole in the Treatment of Schizophrenia
NCT00090012	PHASE4	COMPLETED	Comparison of Continuing Olanzapine to Switching to Quetiapine in Overweight or Obese Patients With Schizophrenia and Schizoaffective Disorder
NCT00100776	PHASE4	COMPLETED	Efficacy of High Dose Olanzapine for the Treatment of Schizophrenia and Schizoaffective Disorder
NCT00103571	PHASE4	COMPLETED	Olanzapine Versus Aripiprazole in the Treatment of Acutely Ill Patients With Schizophrenia
NCT00108368	PHASE4	COMPLETED	The Effects of Risperidone and Olanzapine on Thinking
NCT00114595	PHASE4	COMPLETED	Ethyl-Eicosapentaenoic Acid and Tardive Dyskinesia
NCT00130923	PHASE4	COMPLETED	Risperidone Long-acting Versus Oral Risperidone in Patients With Schizophrenia and Alcohol Use Disorder
NCT00137020	PHASE4	COMPLETED	Clinical Effect Of Cross Titration Of Antipsychotics With Ziprasidone In Schizophrenia Or Schizoaffective Disorder
NCT00140166	PHASE4	COMPLETED	Treatment of Acute Schizophrenia With Vitamin Therapy
NCT00145847	PHASE4	COMPLETED	Naltrexone Treatment of Alcohol Abuse in Schizophrenia
NCT00148564	PHASE4	COMPLETED	Energy Homeostasis Under Treatment With Atypical Antipsychotics
NCT00156715	PHASE4	COMPLETED	Efficacy of Quetiapine in the Treatment of Patients With Schizophrenia and a Comorbid Substance Use Disorder
NCT00158223	PHASE4	COMPLETED	Effectiveness of Pimozide in Augmenting the Effects of Clozapine in the Treatment of Schizophrenia
NCT00159081	PHASE4	COMPLETED	One Year Drug Treatment in First-Episode Schizophrenia
NCT00159120	PHASE4	COMPLETED	Maintenance Treatment vs. Stepwise Drug Discontinuation in First-Episode Schizophrenia
NCT00159133	PHASE4	COMPLETED	Prodrome-Based Early Intervention With Antipsychotics vs. Benzodiazepines in First-Episode Schizophrenia
NCT00159757	PHASE4	TERMINATED	12 Week Open, Non-Comparative Switch Study Of Oral Ziprazidone In Previously Treated Schizophrenic Patients
NCT00167817	PHASE4	COMPLETED	Effect of Switch to Aripiprazole on Health and Smoking Parameters in Patients With Schizophrenia: A Pilot Study
NCT00169026	PHASE4	TERMINATED	Alcoholism and Schizophrenia: Effects of Clozapine
NCT00169039	PHASE4	TERMINATED	Clozapine Versus Chlorpromazine for Treatment-Unresponsive Schizophrenia
NCT00169065	PHASE4	COMPLETED	Effectiveness of Clozapine Versus Olanzapine for Treatment-resistant Schizophrenia
NCT00169091	PHASE4	TERMINATED	Clozapine Versus Haloperidol for Treating the First Episode of Schizophrenia
NCT00176423	PHASE4	COMPLETED	Efficacy Study of Galantamine for Cognitive Impairments in Schizophrenia
NCT00176436	PHASE4	COMPLETED	Atomoxetine for Treatment of Weight Gain in Olanzapine or Clozapine Patients
NCT00177008	PHASE4	COMPLETED	Aripiprazole for the Treatment of Schizophrenia With Co-Morbid Social Anxiety