POLR2I

Summary

POLR2I (RNA polymerase II subunit I, HGNC:9196) is a protein-coding gene on chromosome 19q13.12, encoding DNA-directed RNA polymerase II subunit RPB9 (P36954). 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 common-essential gene (DepMap: required in 100.0% of cancer cell lines).

This gene encodes a subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. This subunit, in combination with two other polymerase subunits, forms the DNA binding domain of the polymerase, a groove in which the DNA template is transcribed into RNA. The product of this gene has two zinc finger motifs with conserved cysteines and the subunit does possess zinc binding activity.

Source: NCBI Gene 5438 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 22 total
• Cancer dependency (DepMap): dependent in 100.0% of screened cell lines (common-essential)
• MANE Select transcript: NM_006233

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:9196
Approved symbol	POLR2I
Name	RNA polymerase II subunit I
Location	19q13.12
Locus type	gene with protein product
Status	Approved
Aliases	RPB9, hRPB14.5
Ensembl gene	ENSG00000105258
Ensembl biotype	protein_coding
OMIM	180662
Entrez	5438

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 3 nonsense_mediated_decay, 3 retained_intron, 1 protein_coding

ENST00000221859, ENST00000585842, ENST00000586439, ENST00000586789, ENST00000589069, ENST00000589591, ENST00000592962

RefSeq mRNA: 1 — MANE Select: NM_006233 NM_006233

CCDS: CCDS12487

Canonical transcript exons

ENST00000221859 — 6 exons

Exon	Start	End
ENSE00001057362	36114798	36114875
ENSE00003499853	36113709	36113817
ENSE00003520842	36114015	36114066
ENSE00003623664	36114339	36114412
ENSE00003635509	36114659	36114713
ENSE00003667768	36114177	36114251

Expression profiles

Bgee: expression breadth ubiquitous, 294 present calls, max score 99.11.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 65.5617 / max 542.7415, expressed in 1818 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter ID	TPM avg	Samples expressed
180652	45.8507	1814
180654	13.5946	1723
180653	2.1136	1002
180649	1.8941	1113
180651	1.1708	724
180650	0.4472	247
180655	0.3079	117
180656	0.1827	61

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left testis	UBERON:0004533	99.11	gold quality
right testis	UBERON:0004534	99.03	gold quality
hindlimb stylopod muscle	UBERON:0004252	98.85	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	98.72	gold quality
apex of heart	UBERON:0002098	98.55	gold quality
nucleus accumbens	UBERON:0001882	98.33	gold quality
spinal cord	UBERON:0002240	98.32	gold quality
right frontal lobe	UBERON:0002810	98.30	gold quality
amygdala	UBERON:0001876	98.29	gold quality
right hemisphere of cerebellum	UBERON:0014890	98.19	gold quality
testis	UBERON:0000473	98.14	gold quality
putamen	UBERON:0001874	98.11	gold quality
gastrocnemius	UBERON:0001388	98.10	gold quality
muscle of leg	UBERON:0001383	98.05	gold quality
caudate nucleus	UBERON:0001873	98.04	gold quality
cerebellar cortex	UBERON:0002129	98.04	gold quality
cerebellar hemisphere	UBERON:0002245	98.04	gold quality
prefrontal cortex	UBERON:0000451	98.02	gold quality
Brodmann (1909) area 9	UBERON:0013540	97.99	gold quality
right uterine tube	UBERON:0001302	97.97	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	97.97	gold quality
hypothalamus	UBERON:0001898	97.91	gold quality
cingulate cortex	UBERON:0003027	97.90	gold quality
anterior cingulate cortex	UBERON:0009835	97.86	gold quality
muscle organ	UBERON:0001630	97.78	gold quality
adenohypophysis	UBERON:0002196	97.75	gold quality
cerebellum	UBERON:0002037	97.74	gold quality
substantia nigra	UBERON:0002038	97.68	gold quality
heart left ventricle	UBERON:0002084	97.66	gold quality
cranial nerve II	UBERON:0000941	97.60	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-HCAD-1	yes	29.84
E-GEOD-109979	no	143.07
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 100.0% of screened cell lines, common-essential.

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	polr2i	ENSDARG00000040443
mus_musculus	Polr2i	ENSMUSG00000019738
rattus_norvegicus	Polr2i	ENSRNOG00000020799
drosophila_melanogaster	Polr2I	FBGN0004855
caenorhabditis_elegans		WBGENE00022400

Paralogs (2): POLR1H (ENSG00000066379), POLR3K (ENSG00000161980)

Protein

Protein identifiers

DNA-directed RNA polymerase II subunit RPB9 — P36954 (reviewed: P36954)

Alternative names: DNA-directed RNA polymerase II subunit I, RNA polymerase II 14.5 kDa subunit

All UniProt accessions (4): P36954, K7EK49, K7EKS1, K7ENX4

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. Pol II is the central component of the basal RNA polymerase II transcription machinery. It is composed of mobile elements that move relative to each other. POLR2I/RPB9 is part of the upper jaw surrounding the central large cleft and thought to grab the incoming DNA template.

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.

Subcellular location. Nucleus. Nucleolus.

Similarity. Belongs to the archaeal RpoM/eukaryotic RPA12/RPB9/RPC11 RNA polymerase family.

RefSeq proteins (1): NP_006224* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001222	Znf_TFIIS	Domain
IPR001529	Zn_ribbon_RPB9	Domain
IPR012164	Rpa12/Rpb9/Rpc10/TFS	Family
IPR019761	DNA-dir_RNA_pol-M_15_CS	Conserved_site
IPR034012	Zn_ribbon_RPB9_C	Domain

Pfam: PF01096, PF02150

UniProt features (27 total): strand 11, binding site 8, zinc finger region 2, turn 2, helix 2, chain 1, modified residue 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-P36954-F1	86.07	0.60

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Ligand- & substrate-binding residues (8): 119; 17; 20; 39; 42; 86; 89; 114

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: 241 (showing top): MORF_MTA1, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, ENK_UV_RESPONSE_KERATINOCYTE_UP, GOBP_TRANSCRIPTION_COUPLED_NUCLEOTIDE_EXCISION_REPAIR, REACTOME_VIRAL_MESSENGER_RNA_SYNTHESIS, REACTOME_SIGNALING_BY_FGFR, MORF_UBE2I, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, MORF_RAD21, MORF_HDAC2, SP1_Q2_01, GOBP_NUCLEOTIDE_EXCISION_REPAIR, REACTOME_HIV_INFECTION, MORF_CTBP1

GO Biological Process (5): maintenance of transcriptional fidelity during transcription elongation by RNA polymerase II (GO:0001193), transcription-coupled nucleotide-excision repair (GO:0006283), transcription by RNA polymerase II (GO:0006366), transcription initiation at RNA polymerase II promoter (GO:0006367), DNA-templated transcription (GO:0006351)

GO Molecular Function (5): nucleic acid binding (GO:0003676), DNA-directed RNA polymerase activity (GO:0003899), zinc ion binding (GO:0008270), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (5): nucleus (GO:0005634), nucleoplasm (GO:0005654), RNA polymerase II, core complex (GO:0005665), nucleolus (GO:0005730), 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
binding	2
nuclear lumen	2
maintenance of transcriptional fidelity during transcription elongation	1
transcription elongation by RNA polymerase II	1
nucleotide-excision repair	1
DNA-templated transcription	1
DNA-templated transcription initiation	1
transcription by RNA polymerase II	1
gene expression	1
5’-3’ RNA polymerase activity	1
transition metal ion binding	1
cation binding	1
intracellular membrane-bounded organelle	1
cellular anatomical structure	1
RNA polymerase II, holoenzyme	1
nuclear DNA-directed RNA polymerase complex	1
intracellular membraneless organelle	1
RNA polymerase complex	1

Protein interactions and networks

STRING

2825 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
POLR2I	POLR2E	P19388	985
POLR2I	POLR2B	P30876	978
POLR2I	POLR2F	P41584	978
POLR2I	POLR2A	P24928	973
POLR2I	POLR2G	P52433	959
POLR2I	POLR2D	O15514	937
POLR2I	POLR2K	P53803	918
POLR2I	TCEA1	P23193	909
POLR2I	POLR2L	P52436	875
POLR2I	POLR2H	P52434	873
POLR2I	POLR2C	P19387	865
POLR2I	POLR2J	P52435	859
POLR2I	TCEA2	Q15560	836
POLR2I	TCEA3	O75764	834
POLR2I	GTF2B	Q00403	809

IntAct

111 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
POLR2E	POLR3A	psi-mi:“MI:0914”(association)	0.870
MED18	MED19	psi-mi:“MI:0914”(association)	0.840
MED31	MED19	psi-mi:“MI:0914”(association)	0.840
MED7	MED19	psi-mi:“MI:0914”(association)	0.840
POLR2G	POLR2D	psi-mi:“MI:0914”(association)	0.840
POLR2E	POLR2D	psi-mi:“MI:0915”(physical association)	0.790
MED30	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
POLR2C	POLR2D	psi-mi:“MI:0914”(association)	0.730
POLR2J	POLR2D	psi-mi:“MI:0914”(association)	0.730
POLR2L	RCCD1	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
POLR2D	RECQL5	psi-mi:“MI:0914”(association)	0.640
CASP6	POLR2I	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (207): POLR2I (Co-localization), POLR2I (Co-localization), POLR2I (Co-localization), ESR1 (Co-localization), SRC (Co-localization), PSMB9 (Co-localization), POLR2I (Co-localization), TCEB3 (Co-localization), POLR2I (Affinity Capture-MS), POLR2I (Affinity Capture-MS), POLR2I (Affinity Capture-MS), POLR2I (Affinity Capture-MS), POLR2I (Affinity Capture-MS), COPS5 (Co-fractionation), POLR2C (Co-fractionation)

ESM2 similar proteins: A2VDL8, A4F4L4, O35142, O54865, O55029, O70133, O94973, O96015, P16068, P17427, P18484, P19803, P20595, P35605, P35606, P36954, P36958, P38024, P48444, P52565, P53619, P60898, P60899, Q02153, Q08211, Q0VCK5, Q13098, Q28141, Q32P73, Q4R4J0, Q4ZHR9, Q5E9U9, Q5F418, Q5R664, Q5R874, Q5RA77, Q5XI73, Q5XJY5, Q5ZL57, Q66H80

Diamond homologs: O74635, P27999, P36954, P36958, P60898, P60899, Q32P73, Q6FS48, Q6NLH0, Q755B3, Q8L5V0, Q8SQU1, Q965S0, Q58548, Q04307, Q2M2S7, Q5JF34, Q980K2, Q9CQZ7, Q9Y2Y1, O13896, O27369, O29033, Q07271, Q56254, Q9P9I8

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
POLR2I	“form complex”	“RNA Polymerase II”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 84 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	9	105.4×	2e-16
Signaling by FGFR2 IIIa TM	10	92.5×	4e-17
RNA Pol II CTD phosphorylation and interaction with CE during HIV infection	14	87.8×	5e-23
RNA Pol II CTD phosphorylation and interaction with CE	14	87.8×	5e-23
Abortive elongation of HIV-1 transcript in the absence of Tat	11	84.0×	4e-18
mRNA Capping	14	82.0×	1e-22
MicroRNA (miRNA) biogenesis	11	77.3×	1e-17
Formation of the Early Elongation Complex	13	67.2×	1e-19

GO biological processes:

GO term	Partners	Fold	FDR
positive regulation of transcription elongation by RNA polymerase II	10	38.1×	4e-11
RNA polymerase II preinitiation complex assembly	10	34.4×	6e-11
positive regulation of transcription initiation by RNA polymerase II	9	31.0×	2e-09
transcription initiation at RNA polymerase II promoter	6	28.4×	6e-06
transcription by RNA polymerase II	12	10.7×	1e-07
protein ubiquitination	9	4.7×	8e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	11
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

675 predictions. Top by Δscore:

Variant	Effect	Δscore
19:36114010:CTTA:C	donor_loss	1.0000
19:36114011:TTAC:T	donor_loss	1.0000
19:36114012:TA:T	donor_loss	1.0000
19:36114014:C:CT	donor_loss	1.0000
19:36114065:ACCTG:A	acceptor_loss	1.0000
19:36114066:CCTGA:C	acceptor_loss	1.0000
19:36114175:A:AC	donor_gain	1.0000
19:36114176:C:CT	donor_gain	1.0000
19:36114247:GTTCG:G	acceptor_gain	1.0000
19:36114248:TTCG:T	acceptor_gain	1.0000
19:36114249:TCG:T	acceptor_gain	1.0000
19:36114249:TCGC:T	acceptor_loss	1.0000
19:36114250:CG:C	acceptor_gain	1.0000
19:36114250:CGC:C	acceptor_gain	1.0000
19:36114252:C:CC	acceptor_gain	1.0000
19:36114252:C:CG	acceptor_loss	1.0000
19:36114261:C:CT	acceptor_gain	1.0000
19:36114263:C:CT	acceptor_gain	1.0000
19:36114335:TCA:T	donor_loss	1.0000
19:36114336:CAC:C	donor_loss	1.0000
19:36114337:A:AC	donor_gain	1.0000
19:36114337:ACT:A	donor_gain	1.0000
19:36114337:ACTC:A	donor_gain	1.0000
19:36114338:C:CT	donor_gain	1.0000
19:36114338:C:G	donor_loss	1.0000
19:36114338:CT:C	donor_gain	1.0000
19:36114338:CTC:C	donor_gain	1.0000
19:36114338:CTCC:C	donor_gain	1.0000
19:36114338:CTCCA:C	donor_gain	1.0000
19:36114345:T:TA	donor_gain	1.0000

AlphaMissense

836 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:36113793:A:G	C114R	1.000
19:36114184:A:G	C86R	1.000
19:36114401:A:C	C42W	1.000
19:36114402:C:A	C42F	1.000
19:36114402:C:G	C42S	1.000
19:36114402:C:T	C42Y	1.000
19:36114403:A:G	C42R	1.000
19:36114403:A:T	C42S	1.000
19:36114410:G:C	C39W	1.000
19:36114411:C:G	C39S	1.000
19:36114411:C:T	C39Y	1.000
19:36114412:A:G	C39R	1.000
19:36114412:A:T	C39S	1.000
19:36114702:A:G	L24P	1.000
19:36114705:A:G	M23T	1.000
19:36114807:C:T	C17Y	1.000
19:36114808:A:G	C17R	1.000
19:36114809:G:C	F16L	1.000
19:36114809:G:T	F16L	1.000
19:36114810:A:C	F16C	1.000
19:36114810:A:G	F16S	1.000
19:36114811:A:G	F16L	1.000
19:36113764:C:A	W123C	0.999
19:36113764:C:G	W123C	0.999
19:36113766:A:G	W123R	0.999
19:36113766:A:T	W123R	0.999
19:36113776:G:C	C119W	0.999
19:36113777:C:T	C119Y	0.999
19:36113778:A:G	C119R	0.999
19:36113791:G:C	C114W	0.999

dbSNP variants (sampled 300 via entrez): RS1000451021 (19:36115441 T>C,G), RS1000549581 (19:36116748 C>A), RS1001152552 (19:36115513 G>A,C), RS1001171651 (19:36114324 G>A,C), RS1001269753 (19:36115324 A>T), RS1001607736 (19:36115044 A>C,G), RS1001975079 (19:36115322 G>A), RS1002559390 (19:36114498 A>C,G), RS1005662525 (19:36113827 A>C), RS1006474528 (19:36113972 C>A,T), RS1006725327 (19:36116211 C>T), RS1006735133 (19:36115968 G>A,C,T), RS1007693800 (19:36114988 C>A,T), RS1007746111 (19:36114829 C>A,G,T), RS1008694532 (19:36113918 G>A,T)

Disease associations

OMIM: gene MIM:180662 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases abundance, increases expression	2
Rotenone	decreases expression, increases expression	2
bisphenol F	affects cotreatment, increases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	increases methylation	1
cobaltous chloride	decreases expression	1
ochratoxin A	increases acetylation, increases expression	1
perfluorooctane sulfonic acid	increases expression	1
K 7174	decreases expression	1
pyrimidifen	increases expression	1
abrine	decreases expression	1
jinfukang	increases expression	1
Resveratrol	affects cotreatment, increases expression	1
Air Pollutants	increases abundance, increases expression	1
Arsenic	increases abundance, increases expression	1
Dexamethasone	affects cotreatment, increases expression	1
Doxorubicin	decreases expression	1
Indomethacin	affects cotreatment, increases expression	1
Ivermectin	decreases expression	1
Lipopolysaccharides	affects expression, affects response to substance	1
Plant Extracts	affects cotreatment, increases expression	1
Smoke	increases abundance, increases expression	1
Thiram	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Valproic Acid	increases expression	1
1-Methyl-3-isobutylxanthine	affects cotreatment, increases expression	1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	increases expression	1
Cyclosporine	increases expression	1
Copper Sulfate	decreases expression	1
Lactic Acid	decreases expression	1

Clinical trials (associated diseases)

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