POLR2J

Summary

POLR2J (RNA polymerase II subunit J, HGNC:9197) is a protein-coding gene on chromosome 7q22.1, encoding DNA-directed RNA polymerase II subunit RPB11-a (P52435). Core component of RNA polymerase II (Pol II), a DNA-dependent RNA polymerase which synthesizes mRNA precursors and many functional non-coding RNAs using the four ribonucleoside triphosphates as substrates. It is a selective cancer dependency (DepMap: 50.0% of cell lines).

This gene encodes a subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. The product of this gene exists as a heterodimer with another polymerase subunit; together they form a core subassembly unit of the polymerase. Two similar genes are located nearby on chromosome 7q22.1 and a pseudogene is found on chromosome 7p13.

Source: NCBI Gene 5439 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 17 total
• Cancer dependency (DepMap): dependent in 50.0% of screened cell lines
• MANE Select transcript: NM_006234

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:9197
Approved symbol	POLR2J
Name	RNA polymerase II subunit J
Location	7q22.1
Locus type	gene with protein product
Status	Approved
Aliases	RPB11, hRPB14, RPB11A, RPB11m, POLR2J1
Ensembl gene	ENSG00000005075
Ensembl biotype	protein_coding
OMIM	604150
Entrez	5439

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 3 protein_coding

ENST00000292614, ENST00000894799, ENST00000894800

RefSeq mRNA: 3 — MANE Select: NM_006234 NM_001371100, NM_001393919, NM_006234

CCDS: CCDS5724

Canonical transcript exons

ENST00000292614 — 4 exons

Exon	Start	End
ENSE00001056055	102473128	102473684
ENSE00001329052	102478808	102478922
ENSE00002457134	102474361	102474535
ENSE00002504427	102476181	102476270

Expression profiles

Bgee: expression breadth ubiquitous, 149 present calls, max score 97.70.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 41.2213 / max 418.9732, expressed in 1815 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
85356	41.2213	1815

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
gastrocnemius	UBERON:0001388	97.70	gold quality
hindlimb stylopod muscle	UBERON:0004252	97.62	gold quality
muscle of leg	UBERON:0001383	97.40	gold quality
apex of heart	UBERON:0002098	97.25	gold quality
skeletal muscle organ	UBERON:0014892	97.09	gold quality
heart left ventricle	UBERON:0002084	96.82	gold quality
right atrium auricular region	UBERON:0006631	96.73	gold quality
left adrenal gland cortex	UBERON:0035825	96.59	gold quality
left adrenal gland	UBERON:0001234	96.47	gold quality
mucosa of transverse colon	UBERON:0004991	96.45	gold quality
substantia nigra	UBERON:0002038	96.36	gold quality
putamen	UBERON:0001874	96.30	gold quality
amygdala	UBERON:0001876	96.26	gold quality
hypothalamus	UBERON:0001898	96.24	gold quality
nucleus accumbens	UBERON:0001882	96.21	gold quality
right adrenal gland	UBERON:0001233	96.18	gold quality
heart	UBERON:0000948	96.16	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	96.13	gold quality
granulocyte	CL:0000094	95.98	gold quality
temporal lobe	UBERON:0001871	95.96	gold quality
spinal cord	UBERON:0002240	95.94	gold quality
right adrenal gland cortex	UBERON:0035827	95.93	gold quality
caudate nucleus	UBERON:0001873	95.86	gold quality
pituitary gland	UBERON:0000007	95.83	gold quality
Ammon’s horn	UBERON:0001954	95.74	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	95.70	gold quality
adenohypophysis	UBERON:0002196	95.68	gold quality
right lobe of liver	UBERON:0001114	95.61	gold quality
body of stomach	UBERON:0001161	95.29	gold quality
skeletal muscle tissue	UBERON:0001134	95.16	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-GEOD-84465	yes	26.99
E-ANND-3	yes	14.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

20 targeting POLR2J, 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-9-5P	100.00	72.28	2361
HSA-LET-7A-2-3P	99.87	70.53	1921
HSA-LET-7G-3P	99.85	70.43	1929
HSA-MIR-6715B-5P	99.64	69.63	1420
HSA-MIR-4276	99.56	67.66	2514
HSA-MIR-4269	99.55	69.89	1373
HSA-MIR-4318	99.38	66.94	1505
HSA-MIR-133A-3P	99.27	71.53	1270
HSA-MIR-133B	99.27	71.53	1270
HSA-MIR-6830-3P	98.62	68.07	1760
HSA-MIR-6811-3P	98.62	66.54	944
HSA-MIR-3188	98.58	65.60	878
HSA-MIR-7114-5P	98.51	67.87	1349
HSA-MIR-3138	98.41	67.53	744
HSA-MIR-6726-5P	95.97	63.72	841
HSA-MIR-920	95.97	63.95	811
HSA-MIR-4300	95.85	64.56	1003
HSA-MIR-5591-5P	95.85	64.76	1002
HSA-MIR-6877-5P	93.84	61.41	74
HSA-MIR-4444	92.67	67.92	56

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 50.0% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 2)

• Four independent genes(POLR2J1, POLR2J2, POLR2J3, POLR2J4) encoding various variants of the hRPB11 subunit of Homo sapiens RNA polymerase II were revealed in human chromosome 7 (PMID:15586814)
• POLR2J interacts with three different subunits of eIF3, eIF3a, eIF3i, and eIF3m. (PMID:22022972)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	polr2j	ENSDARG00000035146
mus_musculus	Polr2j	ENSMUSG00000039771
rattus_norvegicus	Polr2j	ENSRNOG00000001430
drosophila_melanogaster	Polr2J	FBGN0032634
caenorhabditis_elegans		WBGENE00012187

Paralogs (3): POLR1D (ENSG00000186184), POLR2J2 (ENSG00000228049), POLR2J3 (ENSG00000285437)

Protein

Protein identifiers

DNA-directed RNA polymerase II subunit RPB11-a — P52435 (reviewed: P52435)

Alternative names: DNA-directed RNA polymerase II subunit J-1, RNA polymerase II 13.3 kDa subunit

All UniProt accessions (1): P52435

UniProt curated annotations — full annotation on UniProt →

Function. Core component of RNA polymerase II (Pol II), a DNA-dependent RNA polymerase which synthesizes mRNA precursors and many functional non-coding RNAs using the four ribonucleoside triphosphates as substrates.

Subunit / interactions. Component of the RNA polymerase II (Pol II) core complex consisting of 12 subunits: a ten-subunit catalytic core composed of POLR2A/RPB1, POLR2B/RPB2, POLR2C/RPB3, POLR2I/RPB9, POLR2J/RPB11, POLR2E/RPABC1, POLR2F/RPABC2, POLR2H/RPABC3, POLR2K/RPABC4 and POLR2L/RPABC5 and a mobile stalk composed of two subunits POLR2D/RPB4 and POLR2G/RPB7, protruding from the core and functioning primarily in transcription initiation. Part of Pol II(G) complex, in which Pol II core associates with an additional subunit POLR2M; unlike conventional Pol II, Pol II(G) functions as a transcriptional repressor. Part of TBP-based Pol II pre-initiation complex (PIC), in which Pol II core assembles with general transcription factors and other specific initiation factors including GTF2E1, GTF2E2, GTF2F1, GTF2F2, TCEA1, ERCC2, ERCC3, GTF2H2, GTF2H3, GTF2H4, GTF2H5, GTF2A1, GTF2A2, GTF2B and TBP; this large multi-subunit PIC complex mediates DNA unwinding and targets Pol II core to the transcription start site where the first phosphodiester bond forms. Interacts with AATF. Interacts with PTPN6; this interaction promotes the recruitment of RNA pol II to the PCK1 promoter.

Subcellular location. Nucleus.

Tissue specificity. Ubiquitously expressed. High expression was found in heart and skeletal muscle.

Similarity. Belongs to the archaeal Rpo11/eukaryotic RPB11/RPC19 RNA polymerase subunit family.

RefSeq proteins (3): NP_001358029, NP_001380848, NP_006225* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR008193	RNA_pol_Rpb11_13-16kDa_CS	Conserved_site
IPR009025	RBP11-like_dimer	Domain
IPR022905	Rpo11-like	Family
IPR036603	RBP11-like	Homologous_superfamily
IPR037685	RBP11	Family

Pfam: PF13656

UniProt features (10 total): strand 5, helix 2, chain 1, modified residue 1, turn 1

Structure

Experimental structures (PDB)

21 structures.

PDB	Method	Resolution (Å)
9EHZ	ELECTRON MICROSCOPY	2.6
8XSO	ELECTRON MICROSCOPY	2.7
8XRM	ELECTRON MICROSCOPY	3.13
9EI1	ELECTRON MICROSCOPY	3.2
9EI3	ELECTRON MICROSCOPY	3.2
8XRJ	ELECTRON MICROSCOPY	3.6
9EI4	ELECTRON MICROSCOPY	3.7
5IYB	ELECTRON MICROSCOPY	3.9
5IYC	ELECTRON MICROSCOPY	3.9
5IYD	ELECTRON MICROSCOPY	3.9
6DRD	ELECTRON MICROSCOPY	3.9
8XVS	ELECTRON MICROSCOPY	4.1
6XRE	ELECTRON MICROSCOPY	4.6
9VD9	ELECTRON MICROSCOPY	4.6
7LBM	ELECTRON MICROSCOPY	4.8
5IYA	ELECTRON MICROSCOPY	5.4
5IY9	ELECTRON MICROSCOPY	6.3
5IY6	ELECTRON MICROSCOPY	7.2
6O9L	ELECTRON MICROSCOPY	7.2
5IY8	ELECTRON MICROSCOPY	7.9
5IY7	ELECTRON MICROSCOPY	8.6

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P52435-F1	94.20	0.96

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 (1): 1

Function

Pathways and Gene Ontology

Reactome pathways

76 pathways

ID	Pathway
R-HSA-112382	Formation of RNA Pol II elongation complex
R-HSA-113418	Formation of the Early Elongation Complex
R-HSA-167152	Formation of HIV elongation complex in the absence of HIV Tat
R-HSA-167158	Formation of the HIV-1 Early Elongation Complex
R-HSA-167160	RNA Pol II CTD phosphorylation and interaction with CE during HIV infection
R-HSA-167161	HIV Transcription Initiation
R-HSA-167162	RNA Polymerase II HIV Promoter Escape
R-HSA-167172	Transcription of the HIV genome
R-HSA-167200	Formation of HIV-1 elongation complex containing HIV-1 Tat
R-HSA-167238	Pausing and recovery of Tat-mediated HIV elongation
R-HSA-167242	Abortive elongation of HIV-1 transcript in the absence of Tat
R-HSA-167243	Tat-mediated HIV elongation arrest and recovery
R-HSA-167246	Tat-mediated elongation of the HIV-1 transcript
R-HSA-167287	HIV elongation arrest and recovery
R-HSA-167290	Pausing and recovery of HIV elongation
R-HSA-168325	Viral Messenger RNA Synthesis
R-HSA-203927	MicroRNA (miRNA) biogenesis
R-HSA-5578749	Transcriptional regulation by small RNAs
R-HSA-5601884	PIWI-interacting RNA (piRNA) biogenesis
R-HSA-5617472	Activation of anterior HOX genes in hindbrain development during early embryogenesis
R-HSA-674695	RNA Polymerase II Pre-transcription Events
R-HSA-6781823	Formation of TC-NER Pre-Incision Complex
R-HSA-6781827	Transcription-Coupled Nucleotide Excision Repair (TC-NER)
R-HSA-6782135	Dual incision in TC-NER
R-HSA-6782210	Gap-filling DNA repair synthesis and ligation in TC-NER
R-HSA-6796648	TP53 Regulates Transcription of DNA Repair Genes
R-HSA-6803529	FGFR2 alternative splicing
R-HSA-6807505	RNA polymerase II transcribes snRNA genes
R-HSA-72086	mRNA Capping
R-HSA-72163	mRNA Splicing - Major Pathway

MSigDB gene sets: 0 (showing top):

GO Biological Process (2): transcription by RNA polymerase II (GO:0006366), DNA-templated transcription (GO:0006351)

GO Molecular Function (5): DNA binding (GO:0003677), DNA-directed RNA polymerase activity (GO:0003899), LRR domain binding (GO:0030275), protein dimerization activity (GO:0046983), protein binding (GO:0005515)

GO Cellular Component (4): nucleus (GO:0005634), nucleoplasm (GO:0005654), RNA polymerase II, core complex (GO:0005665), DNA-directed RNA polymerase complex (GO:0000428)

Reactome top-level categories

Rollup of top-8 pathways:

Category	Pathways
Transcription of the HIV genome	8
HIV Transcription Elongation	3
Gene Silencing by RNA	3
RNA Polymerase II Transcription Elongation	2
Late Phase of HIV Life Cycle	1
Tat-mediated elongation of the HIV-1 transcript	1
Influenza Viral RNA Transcription and Replication	1
Activation of HOX genes during differentiation	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
RNA biosynthetic process	2
DNA-templated transcription	1
gene expression	1
nucleic acid binding	1
5’-3’ RNA polymerase activity	1
protein domain specific binding	1
protein binding	1
binding	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
cellular anatomical structure	1
RNA polymerase II, holoenzyme	1
nuclear DNA-directed RNA polymerase complex	1
RNA polymerase complex	1

Protein interactions and networks

STRING

1954 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
POLR2J	POLR2C	P19387	999
POLR2J	POLR2L	P52436	986
POLR2J	POLR2K	P53803	976
POLR2J	POLR2B	P30876	970
POLR2J	POLR2H	P52434	928
POLR2J	POLR2A	P24928	893
POLR2J	POLR2E	P19388	889
POLR2J	POLR2G	P52433	870
POLR2J	POLR2F	P41584	868
POLR2J	POLR2D	O15514	866
POLR2J	RPAP1	Q9BWH6	865
POLR2J	POLR2I	P36954	859
POLR2J	MED17	Q9NVC6	843
POLR2J	RPAP2	Q8IXW5	837
POLR2J	GPN1	Q9HCN4	828

IntAct

145 interactions, top by confidence:

A	B	Type	Score
MED10	MED19	psi-mi:“MI:0914”(association)	0.910
MED29	MED19	psi-mi:“MI:0914”(association)	0.890
MED21	MED19	psi-mi:“MI:0914”(association)	0.880
POLR2E	POLR3A	psi-mi:“MI:0914”(association)	0.870
MED18	MED19	psi-mi:“MI:0914”(association)	0.840
POLR1C	POLR2J	psi-mi:“MI:0915”(physical association)	0.830
POLR2J	POLR1C	psi-mi:“MI:0915”(physical association)	0.830
POLR2J	POLR1C	psi-mi:“MI:0914”(association)	0.830
POLR2E	POLR2D	psi-mi:“MI:0915”(physical association)	0.790
MED9	MED19	psi-mi:“MI:0914”(association)	0.790
POLR2G	RECQL5	psi-mi:“MI:0914”(association)	0.730
RPRD1B	RECQL5	psi-mi:“MI:0914”(association)	0.730
POLR2D	MED19	psi-mi:“MI:0914”(association)	0.730
POLR2E	MED19	psi-mi:“MI:0914”(association)	0.730
RPRD1B	POLR2D	psi-mi:“MI:0914”(association)	0.730
MED19	MED19	psi-mi:“MI:0914”(association)	0.730
MED26	MED19	psi-mi:“MI:0914”(association)	0.730
POLR2A	POLR2D	psi-mi:“MI:0914”(association)	0.730
POLR2C	POLR2D	psi-mi:“MI:0914”(association)	0.730
POLR2D	POLR2C	psi-mi:“MI:0914”(association)	0.730
MED28	MED19	psi-mi:“MI:0914”(association)	0.730
POLR2J	POLR2D	psi-mi:“MI:0914”(association)	0.730
POLR2C	SUPT5H	psi-mi:“MI:0914”(association)	0.640
POLR2D	RECQL5	psi-mi:“MI:0914”(association)	0.640

BioGRID (298): POLR2J (Co-localization), POLR2J (Co-localization), POLR2J (Co-localization), ESR1 (Co-localization), SRC (Co-localization), PSMB9 (Co-localization), POLR2J (Co-localization), TCEB3 (Co-localization), POLR1C (Two-hybrid), POLR2J (Affinity Capture-MS), POLR2J (Affinity Capture-MS), POLR2J (Affinity Capture-MS), POLR2J (Affinity Capture-MS), POLR2J (Affinity Capture-MS), POLR2J (Affinity Capture-MS)

ESM2 similar proteins: A1D5Z0, A6QLJ3, A9S3D3, B0XZZ2, B3RXR7, B6QW35, B9RUN8, C5DWG7, C5Z3W1, F4JWP9, O08740, O42130, O42131, O46374, P0DPB6, P11388, P15348, P28000, P34617, P38902, P41515, P41516, P52435, P87123, P97304, Q01320, Q02880, Q09177, Q1RMG8, Q23670, Q32P79, Q38859, Q4WYV0, Q54HL6, Q60SM4, Q64399, Q64511, Q6DRI4, Q7PVQ9, Q86JJ5

Diamond homologs: A0B533, A4FZS6, A4YHV0, A6URP9, A6VIQ1, A9A836, B0R4B1, B1L7Q7, B6YTH7, B8YB62, C3MRD1, C3MXM0, C3MZG6, C3N7I8, C3NFY8, C4KIP6, C5A5J3, C6A1R5, O08740, O30032, P28000, P34476, P38902, P46217, P52435, P57671, P87123, Q32P79, Q38859, Q3INY0, Q46C10, Q5JE88, Q5UQD9, Q60SM4, Q61IX2, Q6M0K9, Q74MN9, Q7PVQ9, Q86JJ5, Q8PVT0

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
POLR2J	“form complex”	“RNA Polymerase II”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 103 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
FGFR2 mutant receptor activation	10	105.7×	3e-18
Signaling by FGFR2 IIIa TM	11	91.8×	4e-19
Abortive elongation of HIV-1 transcript in the absence of Tat	12	82.8×	7e-20
RNA Pol II CTD phosphorylation and interaction with CE during HIV infection	14	79.3×	3e-22
RNA Pol II CTD phosphorylation and interaction with CE	14	79.3×	3e-22
mRNA Capping	14	74.0×	7e-22
MicroRNA (miRNA) biogenesis	11	69.8×	2e-17
Pausing and recovery of Tat-mediated HIV elongation	13	66.5×	6e-20

GO biological processes:

GO term	Partners	Fold	FDR
positive regulation of transcription elongation by RNA polymerase II	10	33.8×	1e-10
RNA polymerase II preinitiation complex assembly	9	27.5×	6e-09
positive regulation of transcription initiation by RNA polymerase II	9	27.5×	6e-09
transcription initiation at RNA polymerase II promoter	6	25.2×	1e-05
transcription by RNA polymerase II	13	10.3×	4e-08

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	10
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

732 predictions. Top by Δscore:

Variant	Effect	Δscore
7:102474391:A:AC	donor_gain	1.0000
7:102474392:C:CC	donor_gain	1.0000
7:102474425:T:TA	donor_gain	1.0000
7:102474543:C:CT	acceptor_gain	1.0000
7:102476174:AACTT:A	donor_loss	1.0000
7:102476175:ACTT:A	donor_loss	1.0000
7:102476176:CTT:C	donor_loss	1.0000
7:102476177:TTA:T	donor_loss	1.0000
7:102476178:TA:T	donor_loss	1.0000
7:102476179:A:AC	donor_gain	1.0000
7:102476179:ACGAT:A	donor_loss	1.0000
7:102476180:C:CA	donor_gain	1.0000
7:102476180:C:T	donor_loss	1.0000
7:102476180:CG:C	donor_gain	1.0000
7:102476180:CGA:C	donor_gain	1.0000
7:102476180:CGAT:C	donor_gain	1.0000
7:102476180:CGATT:C	donor_gain	1.0000
7:102476266:TGATC:T	acceptor_gain	1.0000
7:102476267:GATC:G	acceptor_gain	1.0000
7:102476268:ATC:A	acceptor_gain	1.0000
7:102476268:ATCCT:A	acceptor_loss	1.0000
7:102476269:TC:T	acceptor_gain	1.0000
7:102476269:TCC:T	acceptor_loss	1.0000
7:102476270:CC:C	acceptor_gain	1.0000
7:102476271:C:CC	acceptor_gain	1.0000
7:102476271:C:CG	acceptor_loss	1.0000
7:102476272:T:C	acceptor_loss	1.0000
7:102478802:ACTT:A	donor_loss	1.0000
7:102478806:A:AC	donor_gain	1.0000
7:102478806:ACTT:A	donor_gain	1.0000

AlphaMissense

769 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:102474398:A:G	L94P	1.000
7:102476196:C:T	G43E	1.000
7:102474411:C:G	A90P	0.999
7:102474484:G:C	H65Q	0.999
7:102474484:G:T	H65Q	0.999
7:102474500:C:T	G60D	0.999
7:102474503:G:T	A59D	0.999
7:102474505:A:C	F58L	0.999
7:102474505:A:T	F58L	0.999
7:102474507:A:G	F58L	0.999
7:102474512:A:T	V56E	0.999
7:102474530:A:G	L50P	0.999
7:102474530:A:T	L50H	0.999
7:102476196:C:A	G43V	0.999
7:102476197:C:G	G43R	0.999
7:102476197:C:T	G43R	0.999
7:102476226:A:G	F33S	0.999
7:102476235:G:T	A30D	0.999
7:102476236:C:G	A30P	0.999
7:102474386:A:G	L98P	0.998
7:102474422:G:T	A86D	0.998
7:102474452:T:G	Q76P	0.998
7:102474455:A:T	V75E	0.998
7:102474458:C:G	R74P	0.998
7:102474483:G:A	P66S	0.998
7:102474485:T:C	H65R	0.998
7:102474486:G:C	H65D	0.998
7:102474501:C:G	G60R	0.998
7:102474504:C:G	A59P	0.998
7:102474506:A:G	F58S	0.998

dbSNP variants (sampled 300 via entrez): RS1000457800 (7:102479049 A>C,G), RS1000538209 (7:102479203 G>A,T), RS1000654546 (7:102473124 G>A,C,T), RS1001361022 (7:102473426 G>A), RS1002667948 (7:102474266 G>A,C), RS1003836487 (7:102473882 C>T), RS1004074874 (7:102475838 C>A), RS1004368449 (7:102474053 C>A,T), RS1004389357 (7:102474228 G>A,T), RS1005327614 (7:102473187 C>A,G,T), RS1005360996 (7:102475370 TAAAC>T), RS1005393511 (7:102475815 G>A,T), RS1005624723 (7:102473298 C>A), RS1006364941 (7:102478474 G>A,C), RS1006394368 (7:102478686 G>A,T)

Disease associations

OMIM: gene MIM:604150 | 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
GCST007576_428	Chronotype	3.000000e-13

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0008328	chronotype measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

16 total (human), top 16 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
triphenyl phosphate	affects expression	1
bisphenol A	decreases expression	1
sodium arsenite	increases expression	1
cobaltous chloride	decreases expression	1
pinosylvin	increases expression	1
Atrazine	decreases expression	1
Doxorubicin	increases expression	1
Estradiol	affects cotreatment, decreases expression	1
Potassium Dichromate	decreases expression	1
Progesterone	decreases expression, affects cotreatment	1
Smoke	decreases expression	1
Tamoxifen	increases expression	1
Valproic Acid	increases expression	1
Copper Sulfate	decreases expression	1
Lactic Acid	decreases expression	1
tert-Butylhydroperoxide	decreases expression	1

Clinical trials (associated diseases)

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