POLR3E

Summary

POLR3E (RNA polymerase III subunit E, HGNC:30347) is a protein-coding gene on chromosome 16p12.2, encoding DNA-directed RNA polymerase III subunit RPC5 (Q9NVU0). DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. It is a common-essential gene (DepMap: required in 91.7% of cancer cell lines).

Predicted to be involved in DNA-templated transcription; defense response to virus; and innate immune response. Located in nucleoplasm. Part of RNA polymerase III complex.

Source: NCBI Gene 55718 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 138 total — 2 pathogenic
• Cancer dependency (DepMap): dependent in 91.7% of screened cell lines (common-essential)
• MANE Select transcript: NM_018119

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:30347
Approved symbol	POLR3E
Name	RNA polymerase III subunit E
Location	16p12.2
Locus type	gene with protein product
Status	Approved
Aliases	RPC5, SIN, FLJ10509, C37
Ensembl gene	ENSG00000058600
Ensembl biotype	protein_coding
OMIM	617815
Entrez	55718

Gene structure

Transcript identifiers

Ensembl transcripts: 36 — 26 protein_coding, 6 retained_intron, 3 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000299853, ENST00000359210, ENST00000418581, ENST00000561494, ENST00000563024, ENST00000563282, ENST00000563766, ENST00000564061, ENST00000564209, ENST00000564256, ENST00000564750, ENST00000564883, ENST00000565117, ENST00000565358, ENST00000565551, ENST00000567022, ENST00000569757, ENST00000569787, ENST00000615879, ENST00000904752, ENST00000904753, ENST00000904754, ENST00000904755, ENST00000904756, ENST00000904757, ENST00000934042, ENST00000934043, ENST00000934044, ENST00000934045, ENST00000934046, ENST00000934047, ENST00000934048, ENST00000965474, ENST00000965475, ENST00000965476, ENST00000965477

RefSeq mRNA: 5 — MANE Select: NM_018119 NM_001258033, NM_001258034, NM_001258035, NM_001258036, NM_018119

CCDS: CCDS10605, CCDS58432, CCDS58433, CCDS58434, CCDS73845

Canonical transcript exons

ENST00000299853 — 21 exons

Exon	Start	End
ENSE00001843336	22297409	22297537
ENSE00001888119	22333644	22335096
ENSE00003487182	22314079	22314128
ENSE00003518253	22324503	22324660
ENSE00003525556	22322850	22322931
ENSE00003529265	22332060	22332185
ENSE00003533384	22302931	22303004
ENSE00003569945	22324354	22324413
ENSE00003590329	22315089	22315208
ENSE00003621403	22305156	22305206
ENSE00003623435	22328510	22328587
ENSE00003628437	22308148	22308225
ENSE00003639914	22318826	22318946
ENSE00003643912	22308925	22309040
ENSE00003647746	22316601	22316686
ENSE00003650618	22317115	22317206
ENSE00003658093	22313620	22313727
ENSE00003668991	22325761	22326278
ENSE00003672894	22316995	22317039
ENSE00003673644	22309428	22309510
ENSE00003690939	22325205	22325266

Expression profiles

Bgee: expression breadth ubiquitous, 202 present calls, max score 95.53.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 36.1463 / max 389.5991, expressed in 1814 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
153136	36.1463	1814

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
gastrocnemius	UBERON:0001388	95.53	gold quality
muscle of leg	UBERON:0001383	95.07	gold quality
hindlimb stylopod muscle	UBERON:0004252	94.51	gold quality
body of pancreas	UBERON:0001150	94.05	gold quality
left lobe of thyroid gland	UBERON:0001120	93.91	gold quality
adenohypophysis	UBERON:0002196	93.81	gold quality
right lobe of thyroid gland	UBERON:0001119	93.79	gold quality
skin of leg	UBERON:0001511	93.74	gold quality
skin of abdomen	UBERON:0001416	93.31	gold quality
right uterine tube	UBERON:0001302	92.36	gold quality
pituitary gland	UBERON:0000007	92.29	gold quality
thyroid gland	UBERON:0002046	92.26	gold quality
left ovary	UBERON:0002119	92.12	gold quality
left adrenal gland cortex	UBERON:0035825	92.11	gold quality
bone marrow cell	CL:0002092	91.95	gold quality
minor salivary gland	UBERON:0001830	91.94	gold quality
adrenal tissue	UBERON:0018303	91.93	gold quality
right adrenal gland cortex	UBERON:0035827	91.92	gold quality
cortical plate	UBERON:0005343	91.89	gold quality
left adrenal gland	UBERON:0001234	91.83	gold quality
right hemisphere of cerebellum	UBERON:0014890	91.83	gold quality
pancreas	UBERON:0001264	91.78	gold quality
cerebellar hemisphere	UBERON:0002245	91.66	gold quality
endocervix	UBERON:0000458	91.65	gold quality
body of stomach	UBERON:0001161	91.63	gold quality
cerebellar cortex	UBERON:0002129	91.55	gold quality
nerve	UBERON:0001021	91.49	gold quality
tibial nerve	UBERON:0001323	91.49	gold quality
body of uterus	UBERON:0009853	91.42	gold quality
right ovary	UBERON:0002118	91.40	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.37

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): SMARCA1

miRNA regulators (miRDB)

59 targeting POLR3E, 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-30A-5P	100.00	76.31	3233
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-29A-3P	100.00	73.11	1835
HSA-MIR-29B-3P	100.00	73.18	1833
HSA-MIR-29C-3P	100.00	73.15	1833
HSA-MIR-223-3P	99.99	70.14	1140
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-2110	99.96	66.68	1930
HSA-LET-7C-3P	99.95	73.42	2862
HSA-MIR-9983-3P	99.94	71.48	3631
HSA-MIR-10527-5P	99.91	72.28	3754
HSA-MIR-129-5P	99.88	70.26	3273
HSA-MIR-8062	99.88	68.43	995
HSA-MIR-182-5P	99.87	74.03	2589
HSA-MIR-221-3P	99.86	71.56	1329
HSA-MIR-222-3P	99.86	71.35	1337
HSA-MIR-5003-3P	99.85	69.29	2517
HSA-MIR-544A	99.84	68.66	1965
HSA-MIR-4307	99.82	70.45	3374
HSA-MIR-5002-5P	99.76	70.84	1763
HSA-MIR-6516-3P	99.65	68.57	1238
HSA-MIR-642A-5P	99.51	65.10	1152
HSA-MIR-6727-3P	99.49	65.92	1333
HSA-MIR-6740-3P	99.48	68.49	1392
HSA-MIR-122B-5P	99.46	70.81	1457

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 91.7% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 3)

• Data describe the purification and identification of RNA polymerase III subunits RPC2 and RPC5. (PMID:12391170)
• Mutations in the coding region of POLR3E cause impaired expression of antiviral cytokines and susceptibility to varicella-zoster virus CNS infection. (PMID:29728610)
• A mutation in POLR3E impairs antiviral immune response and RNA polymerase III. (PMID:32843346)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	polr3e	ENSDARG00000037358
mus_musculus	Polr3e	ENSMUSG00000030880
rattus_norvegicus	Polr3e	ENSRNOG00000016960
drosophila_melanogaster	Polr3E	FBGN0028402
caenorhabditis_elegans		WBGENE00021061

Protein

Protein identifiers

DNA-directed RNA polymerase III subunit RPC5 — Q9NVU0 (reviewed: Q9NVU0)

Alternative names: DNA-directed RNA polymerase III 80 kDa polypeptide

All UniProt accessions (9): Q9NVU0, A0A0C4DH01, H3BM46, H3BMR4, H3BNJ0, H3BRY1, H3BS41, H3BSI5, H3BSM3

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 POLR3D/RPC4 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. Plays a key role in sensing and limiting infection by intracellular bacteria and DNA viruses. Acts as a 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 at least 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; the stalk composed of two subunits POLR3H/RPC8 and CRCP/RPC9, forming a structural mobile part that protrudes out of the core and functions primarily in transcription initiation; and additional subunits homologous to general transcription factors of the RNA polymerase II machinery, POLR3D/RPC4-POLR3E/RPC5 heterodimer and POLR3/CRPC3-POLR3F/RPC6-POLR3G/RPC7 heterotrimer.

Subcellular location. Nucleus.

Miscellaneous. May result from the retention of an intron in the cDNA.

Isoforms (5)

UniProt ID	Names	Canonical?
Q9NVU0-1	1	yes
Q9NVU0-2	2
Q9NVU0-3	3
Q9NVU0-4	4
Q9NVU0-5	5

RefSeq proteins (5): NP_001244962, NP_001244963, NP_001244964, NP_001244965, NP_060589* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR006886	RNA_pol_III_Rpc5	Family
IPR045576	RPC5_C	Domain

Pfam: PF04801, PF19725

UniProt features (87 total): strand 31, helix 27, modified residue 6, cross-link 5, splice variant 4, sequence conflict 4, region of interest 3, turn 3, compositionally biased region 2, chain 1, sequence variant 1

Structure

Experimental structures (PDB)

31 structures, top 30 by resolution.

PDB	Method	Resolution (Å)
7ASV	X-RAY DIFFRACTION	1.55
7ASU	X-RAY DIFFRACTION	2.23
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

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NVU0-F1	79.74	0.52

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 (11): 503, 522, 171, 432, 498, 498, 659, 161, 162, 192, 224

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: 219 (showing top): GSE45365_NK_CELL_VS_CD8A_DC_UP, GSE45365_NK_CELL_VS_BCELL_UP, ELVIDGE_HYPOXIA_DN, 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_TRANSCRIPTION_BY_RNA_POLYMERASE_III, SARRIO_EPITHELIAL_MESENCHYMAL_TRANSITION_DN, USF_C, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, YY1_02, BACH2_01, GNF2_FBL

GO Biological Process (4): DNA-templated transcription (GO:0006351), innate immune response (GO:0045087), defense response to virus (GO:0051607), immune system process (GO:0002376)

GO Molecular Function (0):

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
gene expression	1
RNA biosynthetic process	1
immune response	1
defense response to symbiont	1
defense response	1
response to virus	1
biological_process	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

1484 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
POLR3E	POLR3D	P05423	929
POLR3E	POLR3F	Q9H1D9	874
POLR3E	POLR3H	Q9Y535	848
POLR3E	POLR3C	Q9BUI4	846
POLR3E	POLR3A	O14802	813
POLR3E	POLR3G	O15318	811
POLR3E	POLR3B	Q9NW08	771
POLR3E	POLR2L	P52436	751
POLR3E	POLR3K	Q9Y2Y1	719
POLR3E	CRCP	O75575	711
POLR3E	POLR1C	O15160	644
POLR3E	POLR2D	O15514	627
POLR3E	VWA3A	A6NCI4	620
POLR3E	POLR1D	P0DPB6	614
POLR3E	POLR3GL	Q9BT43	594

IntAct

86 interactions, top by confidence:

A	B	Type	Score
POLR2E	POLR3A	psi-mi:“MI:0915”(physical association)	0.870
POLR2E	POLR3A	psi-mi:“MI:0914”(association)	0.870
PPP1CC	CCDC85C	psi-mi:“MI:0914”(association)	0.740
POLR2E	MED19	psi-mi:“MI:0914”(association)	0.730
POLR3GL	POLR3A	psi-mi:“MI:0914”(association)	0.730
POLR3E	POLR3A	psi-mi:“MI:0914”(association)	0.730
PPP1CA	CCDC85C	psi-mi:“MI:0914”(association)	0.670
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
POLR3D	POLR3A	psi-mi:“MI:0914”(association)	0.640
GTF3C3	POLR3D	psi-mi:“MI:0914”(association)	0.640
POLR2L	POLR3A	psi-mi:“MI:0914”(association)	0.640
SLC39A5	FAM171A2	psi-mi:“MI:0914”(association)	0.640
UXT	POLR3A	psi-mi:“MI:0914”(association)	0.530
PSME1	POLR3A	psi-mi:“MI:0914”(association)	0.530
GPN3	POLR3A	psi-mi:“MI:0914”(association)	0.530
PIH1D1	POLR3A	psi-mi:“MI:0914”(association)	0.530
POLR1C	POLR3A	psi-mi:“MI:0914”(association)	0.530

BioGRID (255): POLR3E (Affinity Capture-MS), POLR3E (Affinity Capture-MS), POLR3E (Affinity Capture-MS), POLR3E (Affinity Capture-MS), POLR3E (Affinity Capture-MS), BCCIP (Co-fractionation), BCCIP (Co-fractionation), POLR3D (Co-fractionation), POLR3D (Co-fractionation), POLR3E (Co-fractionation), LOC101060521 (Co-fractionation), POLR3E (Co-fractionation), LOC101060521 (Co-fractionation), POLR3E (Co-fractionation), LOC101060521 (Co-fractionation)

ESM2 similar proteins: A1L3F5, A2RT67, A2RUS2, A4D1U4, B1H2P5, D3ZXK7, D4ACE5, E7F240, F1MDL2, F1QEB7, F1R7R1, H2LP95, O75161, O94967, P48553, P59240, Q059U7, Q0PGW2, Q28DH9, Q3TLI0, Q3U0J8, Q3UHG7, Q4R5A4, Q5FVM6, Q5JPI3, Q5M7Q1, Q5M9F0, Q5R989, Q5RC14, Q5XPI3, Q5XPI4, Q5ZJK1, Q6DDX8, Q6NXD8, Q6VNB8, Q7TSG1, Q80TA6, Q8CGF6, Q8IY22, Q8IZQ1

Diamond homologs: Q9CZT4, Q9NVU0

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
POLR3E	“form complex”	“RNA Polymerase III”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 68 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	207.2×	1e-35
RNA Polymerase III Transcription Termination	16	162.1×	9e-33
RNA Polymerase III Transcription Initiation From Type 2 Promoter	18	155.4×	1e-35
RNA Polymerase III Transcription Initiation From Type 1 Promoter	18	149.8×	1e-35
RNA Polymerase III Transcription Initiation From Type 3 Promoter	17	141.5×	3e-33
RNA Polymerase III Transcription Initiation	18	123.4×	1e-33
RNA Polymerase III Transcription	18	119.9×	2e-33
RNA Polymerase III Abortive And Retractive Initiation	18	102.3×	5e-32

GO biological processes:

GO term	Partners	Fold	FDR
transcription by RNA polymerase III	8	98.8×	2e-12
positive regulation of innate immune response	5	42.5×	8e-06
positive regulation of interferon-beta production	6	37.9×	1e-06
defense response to virus	9	10.1×	1e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	0
Uncertain significance	109
Likely benign	5
Benign	1

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
564301	GRCh37/hg19 16p12.2(chr16:21801889-22442007)x1	Pathogenic
564302	GRCh37/hg19 16p12.2(chr16:21817921-22710614)x1	Pathogenic

SpliceAI

3601 predictions. Top by Δscore:

Variant	Effect	Δscore
16:22297535:GAG:G	donor_gain	1.0000
16:22297536:AGG:A	donor_loss	1.0000
16:22297537:GGTG:G	donor_loss	1.0000
16:22297538:GTG:G	donor_loss	1.0000
16:22303000:AGGAG:A	donor_loss	1.0000
16:22303001:GGAG:G	donor_gain	1.0000
16:22303001:GGAGG:G	donor_loss	1.0000
16:22303002:G:GT	donor_gain	1.0000
16:22303002:GAGGT:G	donor_loss	1.0000
16:22303003:AG:A	donor_loss	1.0000
16:22303004:GGT:G	donor_loss	1.0000
16:22303005:GT:G	donor_loss	1.0000
16:22303006:T:G	donor_loss	1.0000
16:22308145:CAGT:C	acceptor_loss	1.0000
16:22308146:A:AG	acceptor_gain	1.0000
16:22308146:AGT:A	acceptor_loss	1.0000
16:22308147:G:GT	acceptor_gain	1.0000
16:22308147:GT:G	acceptor_gain	1.0000
16:22308147:GTA:G	acceptor_gain	1.0000
16:22308147:GTAC:G	acceptor_gain	1.0000
16:22308147:GTACC:G	acceptor_gain	1.0000
16:22309036:TCCTC:T	donor_gain	1.0000
16:22309038:CTC:C	donor_gain	1.0000
16:22309038:CTCGT:C	donor_loss	1.0000
16:22309039:TC:T	donor_gain	1.0000
16:22309039:TCGT:T	donor_loss	1.0000
16:22309040:CG:C	donor_loss	1.0000
16:22309041:G:GG	donor_gain	1.0000
16:22309042:TGAG:T	donor_loss	1.0000
16:22309420:T:TA	acceptor_gain	1.0000

AlphaMissense

4663 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
16:22308979:G:A	G74R	1.000
16:22308979:G:C	G74R	1.000
16:22308979:G:T	G74W	1.000
16:22308980:G:A	G74E	1.000
16:22315095:T:C	F177L	1.000
16:22315097:C:A	F177L	1.000
16:22315097:C:G	F177L	1.000
16:22318922:T:A	V321D	1.000
16:22318933:T:A	W325R	1.000
16:22318933:T:C	W325R	1.000
16:22308210:G:C	K50N	0.999
16:22308210:G:T	K50N	0.999
16:22308964:T:G	Y69D	0.999
16:22308978:A:C	K73N	0.999
16:22308978:A:T	K73N	0.999
16:22308980:G:T	G74V	0.999
16:22308986:A:C	Q76P	0.999
16:22308989:T:G	I77S	0.999
16:22308992:C:A	A78E	0.999
16:22309490:C:A	A115D	0.999
16:22313626:T:C	L124P	0.999
16:22313662:G:C	R136P	0.999
16:22313680:T:C	L142P	0.999
16:22315090:T:A	V175E	0.999
16:22315096:T:C	F177S	0.999
16:22315129:G:C	R188P	0.999
16:22315131:C:A	R189S	0.999
16:22315132:G:C	R189P	0.999
16:22315140:T:C	S192P	0.999
16:22315141:C:T	S192F	0.999

dbSNP variants (sampled 300 via entrez): RS1000142062 (16:22307694 T>G), RS1000154348 (16:22328631 T>G), RS1000235706 (16:22331037 CTCTG>C), RS1000261634 (16:22304683 T>C), RS1000281826 (16:22318025 T>C,G), RS1000288903 (16:22312885 A>C,G), RS1000399286 (16:22318314 A>G), RS1000536740 (16:22301006 G>A), RS1000681259 (16:22306663 A>G), RS1000769661 (16:22326228 A>G), RS1000887117 (16:22327989 C>A), RS1000988788 (16:22297105 T>A,G), RS1001028868 (16:22334481 T>C), RS1001079549 (16:22329986 C>A), RS1001085306 (16:22297693 A>G)

Disease associations

OMIM: gene MIM:617815 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST008839_397	Height	2.000000e-10
GCST010107_17	L-selectin levels	7.000000e-06
GCST012490_593	Femur bone mineral density x serum urate levels interaction	2.000000e-10

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0008202	L-Selectin measurement
EFO:0004531	urate measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases methylation, decreases expression, affects expression, affects cotreatment	3
sodium arsenite	increases abundance, increases expression, decreases expression, affects cotreatment	2
Air Pollutants	increases oxidation, increases expression, affects cotreatment, increases abundance	2
Valproic Acid	affects expression, decreases methylation	2
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	2
Cadmium Chloride	decreases expression, increases abundance, increases expression	2
FR900359	affects phosphorylation	1
TAK-243	decreases sumoylation	1
2,4,6-tribromophenol	decreases expression	1
alpha-pinene	affects cotreatment, increases oxidation, increases abundance	1
trichostatin A	affects expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
manganese chloride	affects cotreatment, increases abundance, increases expression	1
benzo(e)pyrene	increases methylation	1
methacrylaldehyde	affects cotreatment, increases oxidation, increases abundance	1
di-n-butylphosphoric acid	affects expression	1
cylindrospermopsin	increases expression	1
CD 437	increases expression	1
monomethylarsonous acid	increases expression	1
K 7174	increases expression	1
ICG 001	decreases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
hexabrominated diphenyl ether 153	decreases expression	1
bisphenol S	decreases methylation	1
Bortezomib	increases expression	1
Temozolomide	increases expression	1
Decitabine	decreases expression	1
Fulvestrant	decreases methylation, affects cotreatment	1
Panobinostat	affects cotreatment, affects expression	1
Acrolein	affects cotreatment, increases oxidation, increases abundance	1

Clinical trials (associated diseases)

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