POLR3D

Summary

POLR3D (RNA polymerase III subunit D, HGNC:1080) is a protein-coding gene on chromosome 8p21.3, encoding DNA-directed RNA polymerase III subunit RPC4 (P05423). DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. It is a selective cancer dependency (DepMap: 46.4% of cell lines).

This gene complements a temperature-sensitive mutant isolated from the BHK-21 Syrian hamster cell line. It leads to a block in progression through the G1 phase of the cell cycle at nonpermissive temperatures.

Source: NCBI Gene 661 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 82 total
• Cancer dependency (DepMap): dependent in 46.4% of screened cell lines
• MANE Select transcript: NM_001722

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:1080
Approved symbol	POLR3D
Name	RNA polymerase III subunit D
Location	8p21.3
Locus type	gene with protein product
Status	Approved
Aliases	TSBN51, RPC4, C53
Ensembl gene	ENSG00000168495
Ensembl biotype	protein_coding
OMIM	187280
Entrez	661

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 7 protein_coding, 1 retained_intron, 1 nonsense_mediated_decay

ENST00000306433, ENST00000397802, ENST00000517789, ENST00000518039, ENST00000519237, ENST00000861620, ENST00000861621, ENST00000861622, ENST00000945693

RefSeq mRNA: 1 — MANE Select: NM_001722 NM_001722

CCDS: CCDS34858

Canonical transcript exons

ENST00000306433 — 9 exons

Exon	Start	End
ENSE00001159303	22247221	22247264
ENSE00001176350	22250396	22254601
ENSE00001219351	22245133	22245183
ENSE00001219405	22245445	22245614
ENSE00003509499	22247857	22248008
ENSE00003541660	22249044	22249309
ENSE00003576604	22248481	22248649
ENSE00003588216	22248154	22248278
ENSE00003634841	22250075	22250227

Expression profiles

Bgee: expression breadth ubiquitous, 214 present calls, max score 95.11.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 31.7642 / max 300.9195, expressed in 1819 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
87746	18.7079	1771
87745	10.9027	1799
87744	1.2113	833
87742	0.8709	421
87743	0.0714	12

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sural nerve	UBERON:0015488	95.11	gold quality
stromal cell of endometrium	CL:0002255	94.39	gold quality
calcaneal tendon	UBERON:0003701	93.82	gold quality
gastrocnemius	UBERON:0001388	91.25	gold quality
muscle of leg	UBERON:0001383	90.89	gold quality
hindlimb stylopod muscle	UBERON:0004252	88.29	gold quality
islet of Langerhans	UBERON:0000006	88.10	gold quality
tendon	UBERON:0000043	87.00	gold quality
ventricular zone	UBERON:0003053	86.67	gold quality
ganglionic eminence	UBERON:0004023	86.55	gold quality
left testis	UBERON:0004533	86.14	gold quality
right testis	UBERON:0004534	85.82	gold quality
muscle organ	UBERON:0001630	85.79	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	85.74	gold quality
cartilage tissue	UBERON:0002418	85.59	gold quality
lower esophagus mucosa	UBERON:0035834	85.56	gold quality
cortical plate	UBERON:0005343	85.36	gold quality
testis	UBERON:0000473	84.95	gold quality
pancreas	UBERON:0001264	84.84	gold quality
left ovary	UBERON:0002119	84.55	gold quality
body of pancreas	UBERON:0001150	84.51	gold quality
omental fat pad	UBERON:0010414	84.50	gold quality
peritoneum	UBERON:0002358	84.42	gold quality
ascending aorta	UBERON:0001496	84.24	gold quality
esophagus mucosa	UBERON:0002469	84.23	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	84.22	gold quality
thoracic aorta	UBERON:0001515	84.15	gold quality
left coronary artery	UBERON:0001626	84.11	gold quality
mucosa of transverse colon	UBERON:0004991	84.08	gold quality
adrenal tissue	UBERON:0018303	84.00	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	3.21

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): EZH2, MYC, USF1

miRNA regulators (miRDB)

45 targeting POLR3D, 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-196A-5P	100.00	68.16	684
HSA-MIR-196B-5P	100.00	68.16	681
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-4481	100.00	66.42	1669
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-6077	99.99	68.04	2299
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-LET-7D-5P	99.96	71.76	1632
HSA-MIR-4458	99.96	71.64	1650
HSA-MIR-6845-3P	99.94	66.88	1439
HSA-MIR-202-3P	99.84	71.41	1290
HSA-MIR-3121-3P	99.82	71.96	3630
HSA-MIR-3617-5P	99.75	69.41	1968
HSA-MIR-641	99.75	69.35	1975
HSA-MIR-4530	99.69	66.47	1509
HSA-MIR-9851-3P	99.63	69.68	1110
HSA-MIR-24-3P	99.59	69.97	1934
HSA-MIR-593-5P	99.34	69.50	965
HSA-MIR-6510-5P	99.14	66.59	1081
HSA-MIR-4695-5P	99.06	64.87	1151
HSA-MIR-10524-5P	99.05	66.08	963
HSA-MIR-10B-3P	99.04	66.98	988
HSA-MIR-143-5P	98.98	68.87	946

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 46.4% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 1)

• Studies indicate that aatients with anti-RNAP have an increased risk of malignancy within a 5-year timeframe before or after onset of systemic sclerosis (SSc) skin changes. (PMID:22189167)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
		ENSDARG00000104516
mus_musculus	Polr3d	ENSMUSG00000000776
rattus_norvegicus	Polr3d	ENSRNOG00000010028
drosophila_melanogaster	Polr3D	FBGN0036775

Protein

Protein identifiers

DNA-directed RNA polymerase III subunit RPC4 — P05423 (reviewed: P05423)

Alternative names: DNA-directed RNA polymerase III subunit D, Protein BN51, RNA polymerase III 47 kDa subunit, RPC53 homolog

All UniProt accessions (3): P05423, E5RHT4, E7EQ68

UniProt curated annotations — full annotation on UniProt →

Function. DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Specific peripheric component of RNA polymerase III (Pol III) which synthesizes small non-coding RNAs including 5S rRNA, snRNAs, tRNAs and miRNAs from at least 500 distinct genomic loci. Assembles with POLR3E/RPC5 forming a subcomplex that binds the Pol III core. Enables recruitment of Pol III at transcription initiation site and drives transcription initiation from both type 2 and type 3 DNA promoters. Required for efficient transcription termination and reinitiation. Pol III plays a key role in sensing and limiting infection by intracellular bacteria and DNA viruses. Acts as nuclear and cytosolic DNA sensor involved in innate immune response. Can sense non-self dsDNA that serves as template for transcription into dsRNA. The non-self RNA polymerase III transcripts, such as Epstein-Barr virus-encoded RNAs (EBERs) induce type I interferon and NF-kappa-B through the RIG-I pathway.

Subunit / interactions. Component of the RNA polymerase III complex consisting of 17 subunits: a ten-subunit horseshoe-shaped catalytic core composed of POLR3A/RPC1, POLR3B/RPC2, POLR1C/RPAC1, POLR1D/RPAC2, POLR3K/RPC10, POLR2E/RPABC1, POLR2F/RPABC2, POLR2H/RPABC3, POLR2K/RPABC4 and POLR2L/RPABC5; a mobile stalk composed of two subunits POLR3H/RPC8 and CRCP/RPC9, protruding from the core and functioning primarily in transcription initiation; and additional subunits homologous to general transcription factors of the RNA polymerase II machinery, POLR3C/RPC3-POLR3F/RPC6-POLR3G/RPC7 heterotrimer required for transcription initiation and POLR3D/RPC4-POLR3E/RPC5 heterodimer involved in both transcription initiation and termination.

Subcellular location. Nucleus.

Post-translational modifications. Sumoylation on Lys-141 can serve as a signal to mark misfolded Pol III for proteasomal degradation.

Similarity. Belongs to the eukaryotic RPC4/POLR3D RNA polymerase subunit family.

RefSeq proteins (1): NP_001713* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR007811	RPC4	Family

Pfam: PF05132

UniProt features (45 total): cross-link 13, strand 7, sequence conflict 6, helix 5, modified residue 5, turn 4, region of interest 2, initiator methionine 1, chain 1, compositionally biased region 1

Structure

Experimental structures (PDB)

29 structures.

PDB	Method	Resolution (Å)
7AE1	ELECTRON MICROSCOPY	2.8
9K39	ELECTRON MICROSCOPY	2.8
7D58	ELECTRON MICROSCOPY	2.9
9K36	ELECTRON MICROSCOPY	2.9
9K2G	ELECTRON MICROSCOPY	3
9K3U	ELECTRON MICROSCOPY	3
7AE3	ELECTRON MICROSCOPY	3.1
7D59	ELECTRON MICROSCOPY	3.1
9K38	ELECTRON MICROSCOPY	3.1
9FSO	ELECTRON MICROSCOPY	3.28
7A6H	ELECTRON MICROSCOPY	3.3
9LXN	ELECTRON MICROSCOPY	3.3
7DU2	ELECTRON MICROSCOPY	3.35
9FSP	ELECTRON MICROSCOPY	3.39
7AEA	ELECTRON MICROSCOPY	3.4
8IUH	ELECTRON MICROSCOPY	3.4
7DN3	ELECTRON MICROSCOPY	3.5
9K3V	ELECTRON MICROSCOPY	3.5
9LKT	ELECTRON MICROSCOPY	3.5
9FSQ	ELECTRON MICROSCOPY	3.51
7FJI	ELECTRON MICROSCOPY	3.6
7FJJ	ELECTRON MICROSCOPY	3.6
9LXO	ELECTRON MICROSCOPY	3.6
9FSR	ELECTRON MICROSCOPY	3.76
8ITY	ELECTRON MICROSCOPY	3.9
7AST	ELECTRON MICROSCOPY	4
8IUE	ELECTRON MICROSCOPY	4.1
9FSS	ELECTRON MICROSCOPY	4.14
9K3B	ELECTRON MICROSCOPY	4.8

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P05423-F1	63.87	0.12

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 (18): 68, 78, 141, 152, 160, 190, 199, 206, 220, 285, 302, 310, 396, 2, 42, 95, 97, 99

Function

Pathways and Gene Ontology

Reactome pathways

12 pathways

ID	Pathway
R-HSA-1834949	Cytosolic sensors of pathogen-associated DNA
R-HSA-73780	RNA Polymerase III Chain Elongation
R-HSA-73980	RNA Polymerase III Transcription Termination
R-HSA-749476	RNA Polymerase III Abortive And Retractive Initiation
R-HSA-76061	RNA Polymerase III Transcription Initiation From Type 1 Promoter
R-HSA-76066	RNA Polymerase III Transcription Initiation From Type 2 Promoter
R-HSA-76071	RNA Polymerase III Transcription Initiation From Type 3 Promoter
R-HSA-168249	Innate Immune System
R-HSA-168256	Immune System
R-HSA-74158	RNA Polymerase III Transcription
R-HSA-74160	Gene expression (Transcription)
R-HSA-76046	RNA Polymerase III Transcription Initiation

MSigDB gene sets: 203 (showing top): REACTOME_RNA_POLYMERASE_III_TRANSCRIPTION_INITIATION_FROM_TYPE_3_PROMOTER, REACTOME_RNA_POLYMERASE_III_TRANSCRIPTION_TERMINATION, REACTOME_INNATE_IMMUNE_SYSTEM, REACTOME_RNA_POLYMERASE_III_CHAIN_ELONGATION, GOBP_DNA_TEMPLATED_TRANSCRIPTION_TERMINATION, GOBP_POSITIVE_REGULATION_OF_TYPE_I_INTERFERON_PRODUCTION, GGGNRMNNYCAT_UNKNOWN, GOBP_TRNA_METABOLIC_PROCESS, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, CAIRO_PML_TARGETS_BOUND_BY_MYC_UP, GOBP_TRANSCRIPTION_BY_RNA_POLYMERASE_III, GOBP_POSITIVE_REGULATION_OF_CYTOKINE_PRODUCTION, TGACCTY_ERR1_Q2, KEGG_CYTOSOLIC_DNA_SENSING_PATHWAY

GO Biological Process (7): positive regulation of interferon-beta production (GO:0032728), tRNA transcription by RNA polymerase III (GO:0042797), innate immune response (GO:0045087), positive regulation of innate immune response (GO:0045089), defense response to virus (GO:0051607), immune system process (GO:0002376), transcription by RNA polymerase III (GO:0006383)

GO Molecular Function (2): DNA binding (GO:0003677), chromatin binding (GO:0003682)

GO Cellular Component (5): nucleoplasm (GO:0005654), RNA polymerase III complex (GO:0005666), cytosol (GO:0005829), DNA-directed RNA polymerase complex (GO:0000428), nucleus (GO:0005634)

Reactome top-level categories

Rollup of top-5 pathways:

Category	Pathways
RNA Polymerase III Transcription	4
RNA Polymerase III Transcription Initiation	3
Innate Immune System	1
Immune System	1
Gene expression (Transcription)	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
positive regulation of type I interferon production	1
interferon-beta production	1
regulation of interferon-beta production	1
transcription by RNA polymerase III	1
tRNA transcription	1
immune response	1
defense response to symbiont	1
positive regulation of response to biotic stimulus	1
positive regulation of defense response	1
positive regulation of response to external stimulus	1
innate immune response	1
regulation of innate immune response	1
positive regulation of immune response	1
defense response	1
response to virus	1
biological_process	1
DNA-templated transcription	1
nucleic acid binding	1
binding	1
nuclear lumen	1
DNA-directed RNA polymerase complex	1
nuclear protein-containing complex	1
cytoplasm	1
RNA polymerase complex	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

1326 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
POLR3D	POLR3E	Q9NVU0	929
POLR3D	POLR3C	Q9BUI4	893
POLR3D	POLR3F	Q9H1D9	887
POLR3D	POLR3K	Q9Y2Y1	883
POLR3D	POLR3G	O15318	870
POLR3D	ASNS	P08184	852
POLR3D	POLR3H	Q9Y535	838
POLR3D	POLR1C	O15160	827
POLR3D	POLR3B	Q9NW08	783
POLR3D	POLR1D	P0DPB6	780
POLR3D	POLR3A	O14802	762
POLR3D	BDP1	A6H8Y1	688
POLR3D	CYP21A2	P04033	681
POLR3D	POLR2L	P52436	667
POLR3D	TNXB	P22105	667
POLR3D	POLR2H	P52434	667

IntAct

98 interactions, top by confidence:

A	B	Type	Score
POLR2E	POLR3A	psi-mi:“MI:0914”(association)	0.870
POLR2E	POLR3A	psi-mi:“MI:0915”(physical association)	0.870
POLR3D	POLR3G	psi-mi:“MI:0914”(association)	0.730
POLR3GL	POLR3A	psi-mi:“MI:0914”(association)	0.730
POLR2E	MED19	psi-mi:“MI:0914”(association)	0.730
POLR3E	POLR3A	psi-mi:“MI:0914”(association)	0.730
POLR3D	POLR3A	psi-mi:“MI:0914”(association)	0.640
GTF3C3	POLR3D	psi-mi:“MI:0914”(association)	0.640
POLR2L	RCCD1	psi-mi:“MI:0914”(association)	0.640
POLR3K	POLR3A	psi-mi:“MI:0914”(association)	0.640
POLR2F	POLR3A	psi-mi:“MI:0914”(association)	0.640
POLR2L	POLR3A	psi-mi:“MI:0914”(association)	0.640
PIH1D1	POLR3A	psi-mi:“MI:0914”(association)	0.530
UXT	POLR3A	psi-mi:“MI:0914”(association)	0.530
RBP4	POLR3D	psi-mi:“MI:0914”(association)	0.530
GPN3	POLR3A	psi-mi:“MI:0914”(association)	0.530

BioGRID (220): POLR3D (Affinity Capture-MS), POLR3D (Affinity Capture-MS), POLR3H (Affinity Capture-MS), POLR3K (Affinity Capture-MS), POLR3A (Affinity Capture-MS), POLR3E (Affinity Capture-MS), POLR3C (Affinity Capture-MS), POLR3B (Affinity Capture-MS), POLR3G (Affinity Capture-MS), CRCP (Affinity Capture-MS), POLR1C (Affinity Capture-MS), POLR3F (Affinity Capture-MS), POLR2L (Affinity Capture-MS), POLR1D (Affinity Capture-MS), POLR1C (Co-fractionation)

ESM2 similar proteins: A0A088MLT8, A4IFQ0, A6H7A8, B0R1D5, B3KU38, O14795, O95983, P05423, P12755, P17863, P55199, Q0VA03, Q14161, Q2KJ58, Q3ZK22, Q4KUS2, Q4R8N2, Q4VA36, Q5F3L9, Q5R595, Q5R724, Q5RFL7, Q5TKA1, Q5XI52, Q5XII8, Q5ZJK1, Q62768, Q62769, Q66H91, Q66HC7, Q6DC60, Q7TT00, Q8C735, Q8CEG5, Q8IW50, Q8N228, Q8TBN0, Q8VDV3, Q91WD1, Q99LB0

Diamond homologs: P05423, Q5E9Z7, Q91WD1, P25441, O74857

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
POLR3D	“form complex”	“RNA Polymerase III”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 63 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
RNA Polymerase III Chain Elongation	16	230.7×	8e-37
RNA Polymerase III Transcription Initiation From Type 2 Promoter	19	182.6×	9e-40
RNA Polymerase III Transcription Termination	16	180.6×	9e-34
RNA Polymerase III Transcription Initiation From Type 1 Promoter	19	176.1×	1e-39
RNA Polymerase III Transcription Initiation From Type 3 Promoter	18	166.8×	5e-37
RNA Polymerase III Transcription Initiation	19	145.0×	2e-37
RNA Polymerase III Transcription	19	140.9×	4e-37
RNA Polymerase III Abortive And Retractive Initiation	19	120.3×	1e-35

GO biological processes:

GO term	Partners	Fold	FDR
transcription by RNA polymerase III	9	123.1×	4e-15
positive regulation of interferon-beta production	5	35.0×	2e-05
DNA-templated transcription	6	24.1×	1e-05
defense response to virus	9	11.2×	1e-05
transcription by RNA polymerase II	6	7.5×	4e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	70
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1499 predictions. Top by Δscore:

Variant	Effect	Δscore
8:22247220:GA:G	acceptor_gain	1.0000
8:22247260:G:GT	donor_gain	1.0000
8:22247260:GAAGA:G	donor_gain	1.0000
8:22247261:AAGA:A	donor_gain	1.0000
8:22247262:AGA:A	donor_gain	1.0000
8:22247262:AGAGT:A	donor_loss	1.0000
8:22247263:GA:G	donor_gain	1.0000
8:22247263:GAG:G	donor_gain	1.0000
8:22247264:AG:A	donor_loss	1.0000
8:22247265:G:GG	donor_gain	1.0000
8:22247266:T:A	donor_loss	1.0000
8:22247267:AA:A	donor_loss	1.0000
8:22247855:A:AG	acceptor_gain	1.0000
8:22247855:AG:A	acceptor_gain	1.0000
8:22247856:G:GC	acceptor_gain	1.0000
8:22247856:GG:G	acceptor_gain	1.0000
8:22247856:GGC:G	acceptor_gain	1.0000
8:22247856:GGCC:G	acceptor_gain	1.0000
8:22247856:GGCCC:G	acceptor_gain	1.0000
8:22247944:TCCAG:T	donor_gain	1.0000
8:22247948:G:GT	donor_gain	1.0000
8:22248004:AAAAG:A	donor_loss	1.0000
8:22248005:AAAG:A	donor_loss	1.0000
8:22248007:AG:A	donor_loss	1.0000
8:22248008:GG:G	donor_loss	1.0000
8:22248008:GGTA:G	donor_gain	1.0000
8:22248009:GT:G	donor_loss	1.0000
8:22248010:T:A	donor_loss	1.0000
8:22248016:G:GT	donor_gain	1.0000
8:22248017:A:T	donor_gain	1.0000

AlphaMissense

2586 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
8:22245586:G:T	R46M	1.000
8:22245592:T:A	L48H	1.000
8:22245592:T:C	L48P	1.000
8:22245598:T:A	L50H	1.000
8:22245601:G:A	G51E	1.000
8:22247227:T:C	F58L	1.000
8:22247228:T:C	F58S	1.000
8:22247228:T:G	F58C	1.000
8:22247229:C:A	F58L	1.000
8:22247229:C:G	F58L	1.000
8:22247233:C:A	P60T	1.000
8:22247233:C:T	P60S	1.000
8:22247234:C:A	P60Q	1.000
8:22247966:T:C	S107P	1.000
8:22247967:C:T	S107F	1.000
8:22247970:T:A	I108N	1.000
8:22247972:T:A	F109I	1.000
8:22247972:T:C	F109L	1.000
8:22247972:T:G	F109V	1.000
8:22247973:T:C	F109S	1.000
8:22247973:T:G	F109C	1.000
8:22247974:T:A	F109L	1.000
8:22247974:T:G	F109L	1.000
8:22247981:G:C	G112R	1.000
8:22248215:A:C	K141N	1.000
8:22248215:A:T	K141N	1.000
8:22250169:T:C	L339P	1.000
8:22250219:T:C	F356L	1.000
8:22250221:C:A	F356L	1.000
8:22250221:C:G	F356L	1.000

dbSNP variants (sampled 300 via entrez): RS1000097886 (8:22254427 T>G), RS1001190133 (8:22244676 G>T), RS1001472735 (8:22245249 G>A,T), RS1001620135 (8:22244493 A>C), RS1002475428 (8:22246166 C>A), RS1002589328 (8:22252010 C>T), RS1002890766 (8:22245167 G>A), RS1003043255 (8:22250894 C>G,T), RS1003204343 (8:22246391 A>G), RS1003387160 (8:22252316 C>T), RS1003646561 (8:22246240 G>A,T), RS1003791479 (8:22247633 A>T), RS1003915211 (8:22254468 A>G), RS1003967573 (8:22254706 C>A,T), RS1004001491 (8:22253501 C>T)

Disease associations

OMIM: gene MIM:187280 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST001905_1	Hypertriglyceridemia	7.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004530	triglyceride measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Cyclosporine	increases expression	3
Particulate Matter	increases expression, decreases expression, increases abundance	3
Air Pollutants	decreases expression, increases abundance, increases expression	2
Arsenic	increases abundance, increases expression, affects methylation, affects cotreatment	2
Tretinoin	decreases expression	2
TAK-243	decreases sumoylation	1
triphenyl phosphate	affects expression	1
bisphenol A	affects cotreatment, increases methylation	1
beta-lapachone	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
sodium arsenite	affects cotreatment, increases abundance, increases expression	1
manganese chloride	affects cotreatment, increases abundance, increases expression	1
perfluorooctane sulfonic acid	increases expression	1
K 7174	increases expression	1
trans-10,cis-12-conjugated linoleic acid	increases expression	1
abrine	increases expression	1
Temozolomide	increases expression	1
Sunitinib	increases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Caffeine	decreases phosphorylation	1
Carbamazepine	affects expression	1
Diclofenac	affects expression	1
Manganese	increases expression, affects cotreatment, increases abundance	1
Quercetin	increases expression	1
Rotenone	increases expression	1
Smoke	decreases expression	1
Thiram	increases expression	1
Tobacco Smoke Pollution	increases expression	1
Aflatoxin B1	increases methylation	1
Cadmium Chloride	decreases expression	1

Clinical trials (associated diseases)

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