POLA2

Summary

POLA2 (DNA polymerase alpha 2, accessory subunit, HGNC:30073) is a protein-coding gene on chromosome 11q13.1, encoding DNA polymerase alpha subunit B (Q14181). Accessory subunit of the DNA polymerase alpha complex (also known as the alpha DNA polymerase-primase complex) which plays an essential role in the initiation of DNA synthesis. It is a common-essential gene (DepMap: required in 98.8% of cancer cell lines).

Predicted to enable DNA binding activity. Involved in DNA replication initiation and DNA replication, synthesis of primer. Located in ciliary basal body; cytosol; and nucleoplasm. Part of alpha DNA polymerase:primase complex.

Source: NCBI Gene 23649 — RefSeq curated summary.

At a glance

• Gene–disease (curated): telomere syndrome (Strong, GenCC)
• GWAS associations: 4
• Clinical variants (ClinVar): 98 total — 1 pathogenic, 1 likely-pathogenic
• Druggable target: yes
• Cancer dependency (DepMap): dependent in 98.8% of screened cell lines (common-essential)
• MANE Select transcript: NM_002689

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:30073
Approved symbol	POLA2
Name	DNA polymerase alpha 2, accessory subunit
Location	11q13.1
Locus type	gene with protein product
Status	Approved
Aliases	FLJ21662
Ensembl gene	ENSG00000014138
Ensembl biotype	protein_coding
OMIM	620063
Entrez	23649

Gene structure

Transcript identifiers

Ensembl transcripts: 16 — 7 protein_coding, 5 retained_intron, 4 nonsense_mediated_decay

ENST00000265465, ENST00000525924, ENST00000527618, ENST00000527850, ENST00000532391, ENST00000533192, ENST00000706534, ENST00000706535, ENST00000706536, ENST00000706537, ENST00000706538, ENST00000706539, ENST00000706540, ENST00000706541, ENST00000706542, ENST00000875243

RefSeq mRNA: 1 — MANE Select: NM_002689 NM_002689

CCDS: CCDS8098

Canonical transcript exons

ENST00000265465 — 18 exons

Exon	Start	End
ENSE00002500067	65282479	65282521
ENSE00003465841	65295864	65295990
ENSE00003471549	65289050	65289088
ENSE00003477223	65294153	65294261
ENSE00003495441	65295540	65295599
ENSE00003587230	65294546	65294652
ENSE00003631153	65289799	65289872
ENSE00003663840	65287716	65287840
ENSE00003996089	65267477	65267568
ENSE00003996093	65268672	65268729
ENSE00003996094	65278730	65278923
ENSE00003996095	65275892	65275998
ENSE00003996098	65297120	65298685
ENSE00003996110	65261962	65262371
ENSE00003996114	65280992	65281147
ENSE00003996115	65279538	65279626
ENSE00003996118	65281670	65281732
ENSE00003996119	65266582	65266706

Expression profiles

Bgee: expression breadth ubiquitous, 213 present calls, max score 88.37.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 25.4951 / max 296.0451, expressed in 1802 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
115055	20.7570	1777
115054	3.1046	1321
115053	1.3237	882
115061	0.1958	76
115060	0.0622	35
115056	0.0405	13
115062	0.0111	4

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
ventricular zone	UBERON:0003053	88.37	gold quality
embryo	UBERON:0000922	88.32	gold quality
lower esophagus muscularis layer	UBERON:0035833	88.16	gold quality
lower esophagus	UBERON:0013473	88.07	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	88.04	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	86.81	gold quality
ganglionic eminence	UBERON:0004023	86.67	gold quality
mucosa of transverse colon	UBERON:0004991	86.52	gold quality
apex of heart	UBERON:0002098	85.24	gold quality
esophagus	UBERON:0001043	85.12	gold quality
bone marrow cell	CL:0002092	85.06	gold quality
spleen	UBERON:0002106	85.02	gold quality
endocervix	UBERON:0000458	84.74	gold quality
granulocyte	CL:0000094	84.00	gold quality
rectum	UBERON:0001052	83.94	gold quality
metanephros cortex	UBERON:0010533	83.81	gold quality
left ovary	UBERON:0002119	83.78	gold quality
ectocervix	UBERON:0012249	83.59	gold quality
small intestine Peyer’s patch	UBERON:0003454	83.54	gold quality
endometrium epithelium	UBERON:0004811	83.54	silver quality
right ovary	UBERON:0002118	83.52	gold quality
vermiform appendix	UBERON:0001154	83.21	gold quality
lymph node	UBERON:0000029	83.08	gold quality
esophagus mucosa	UBERON:0002469	83.04	gold quality
body of uterus	UBERON:0009853	82.98	gold quality
body of stomach	UBERON:0001161	82.96	gold quality
stromal cell of endometrium	CL:0002255	82.63	gold quality
muscle layer of sigmoid colon	UBERON:0035805	82.46	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	82.32	gold quality
left testis	UBERON:0004533	82.31	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.99

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): E2F1, E2F4

miRNA regulators (miRDB)

44 targeting POLA2, 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-4283	100.00	66.42	2097
HSA-MIR-4481	100.00	66.42	1669
HSA-MIR-1184	99.99	68.19	1458
HSA-MIR-103A-3P	99.98	69.14	1595
HSA-MIR-107	99.98	69.14	1595
HSA-MIR-185-3P	99.95	67.01	1743
HSA-MIR-4525	99.94	64.38	675
HSA-MIR-5010-5P	99.94	64.11	705
HSA-MIR-515-5P	99.92	69.82	2343
HSA-MIR-519E-5P	99.92	69.62	2358
HSA-MIR-8087	99.90	69.55	1351
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-370-5P	99.78	66.81	706
HSA-MIR-378G	99.71	64.90	1106
HSA-MIR-3659	99.70	67.97	694
HSA-MIR-1827	99.63	68.57	3265
HSA-MIR-762	99.58	66.61	1994
HSA-MIR-4489	99.50	65.56	785
HSA-MIR-4498	99.47	67.42	2360
HSA-MIR-1275	99.47	67.90	2749
HSA-MIR-519D-5P	99.41	69.30	2057
HSA-MIR-508-5P	99.41	64.25	1248
HSA-MIR-4316	99.37	65.75	1360
HSA-MIR-3191-5P	99.24	66.52	1722
HSA-MIR-422A	99.18	65.83	550
HSA-MIR-5001-5P	99.05	66.76	1972
HSA-MIR-518C-5P	98.53	69.20	1640
HSA-MIR-378A-3P	98.43	66.10	548
HSA-MIR-378B	98.43	65.36	573
HSA-MIR-378C	98.43	66.10	548

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 98.8% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 6)

• Findings indicate that tethering of primase to the replisome by DNA polymerase alpha (pol alpha) is critical for the normal action of DNA replication forks in eukaryotic cells. (PMID:22593576)
• POLA2+1747 GG/GA may be used as a prognostic biomarker of patient outcome in NSCLC pathogenesis (PMID:25521664)
• our findings showed that knockdown of POLA2 increases gemcitabine resistance in human lung cancer cells. We propose that POLA2 may play a role in gemcitabine sensitivity and can be used as a prognostic biomarker of patient outcome in NSCLC pathogenesis. (PMID:28155658)
• STN1-POLA2 interaction provides a basis for primase-polymerase alpha stimulation by human STN1. (PMID:28934486)
• Involvement of POLA2 in Double Strand Break Repair and Genotoxic Stress. (PMID:32549188)
• CircRNA circ_POLA2 overexpression suppresses cell apoptosis by downregulating PTEN in glioblastoma. (PMID:36730613)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	pola2	ENSDARG00000015070
mus_musculus	Pola2	ENSMUSG00000024833
rattus_norvegicus	Pola2	ENSRNOG00000020906
drosophila_melanogaster	PolA2	FBGN0005696
caenorhabditis_elegans		WBGENE00001002

Protein

Protein identifiers

DNA polymerase alpha subunit B — Q14181 (reviewed: Q14181)

Alternative names: DNA polymerase alpha 70 kDa subunit

All UniProt accessions (7): Q14181, A0A9L9PX14, A0A9L9PXL3, A0A9L9PY44, E9PIQ6, E9PQ99, H0YDR7

UniProt curated annotations — full annotation on UniProt →

Function. Accessory subunit of the DNA polymerase alpha complex (also known as the alpha DNA polymerase-primase complex) which plays an essential role in the initiation of DNA synthesis. During the S phase of the cell cycle, the DNA polymerase alpha complex (composed of a catalytic subunit POLA1, an accessory subunit POLA2 and two primase subunits, the catalytic subunit PRIM1 and the regulatory subunit PRIM2) is recruited to DNA at the replicative forks via direct interactions with MCM10 and WDHD1. The primase subunit of the polymerase alpha complex initiates DNA synthesis by oligomerising short RNA primers on both leading and lagging strands. These primers are initially extended by the polymerase alpha catalytic subunit and subsequently transferred to polymerase delta and polymerase epsilon for processive synthesis on the lagging and leading strand, respectively.

Subunit / interactions. Component of the alpha DNA polymerase complex (also known as the alpha DNA polymerase-primase complex) consisting of four subunits: the catalytic subunit POLA1, the regulatory subunit POLA2, and primase complex subunits PRIM1 and PRIM2 respectively. Within the complex, POLA1 directly interacts with PRIM2/p58.

Subcellular location. Nucleus.

Post-translational modifications. Phosphorylated in a cell cycle-dependent manner, in G2/M phase.

Domain organisation. The N-terminal 240 amino acids are sufficient to mediate complex formation.

Similarity. Belongs to the DNA polymerase alpha subunit B family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q14181-1	1	yes
Q14181-2	2

RefSeq proteins (1): NP_002680* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR007185	DNA_pol_a/d/e_bsu	Domain
IPR013627	Pol_alpha_B_N	Domain
IPR016722	DNA_pol_alpha_bsu	Family
IPR043034	DNA_pol_alpha_B_N_sf	Homologous_superfamily
IPR054300	OB_DPOA2	Domain

Pfam: PF04042, PF08418, PF22062

UniProt features (68 total): strand 31, helix 19, modified residue 7, splice variant 2, sequence variant 2, compositionally biased region 2, turn 2, chain 1, region of interest 1, sequence conflict 1

Structure

Experimental structures (PDB)

13 structures.

PDB	Method	Resolution (Å)
4Y97	X-RAY DIFFRACTION	2.51
8VY3	ELECTRON MICROSCOPY	2.98
8QJ7	ELECTRON MICROSCOPY	3.07
9C8V	ELECTRON MICROSCOPY	3.39
8B9D	ELECTRON MICROSCOPY	3.4
8D0B	ELECTRON MICROSCOPY	3.43
8D9D	ELECTRON MICROSCOPY	3.59
5EXR	X-RAY DIFFRACTION	3.6
7OPL	ELECTRON MICROSCOPY	4.12
8D0K	ELECTRON MICROSCOPY	4.27
7U5C	ELECTRON MICROSCOPY	4.6
4E2I	X-RAY DIFFRACTION	5
2KEB	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q14181-F1	85.24	0.64

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 (7): 154, 126, 127, 130, 141, 147, 152

Function

Pathways and Gene Ontology

Reactome pathways

9 pathways

ID	Pathway
R-HSA-113501	Inhibition of replication initiation of damaged DNA by RB1/E2F1
R-HSA-174411	Polymerase switching on the C-strand of the telomere
R-HSA-174430	Telomere C-strand synthesis initiation
R-HSA-68952	DNA replication initiation
R-HSA-68962	Activation of the pre-replicative complex
R-HSA-69091	Polymerase switching
R-HSA-69166	Removal of the Flap Intermediate
R-HSA-69183	Processive synthesis on the lagging strand
R-HSA-9710421	Defective pyroptosis

MSigDB gene sets: 241 (showing top): E2F_Q4, KALMA_E2F1_TARGETS, MORF_DNMT1, REACTOME_INHIBITION_OF_REPLICATION_INITIATION_OF_DAMAGED_DNA_BY_RB1_E2F1, REACTOME_DNA_REPLICATION, E2F_Q4_01, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, KANG_DOXORUBICIN_RESISTANCE_UP, MORF_ESPL1, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, FISCHER_G1_S_CELL_CYCLE, ENK_UV_RESPONSE_KERATINOCYTE_UP, MORF_HDAC1, FRASOR_RESPONSE_TO_SERM_OR_FULVESTRANT_DN, RIZKI_TUMOR_INVASIVENESS_3D_DN

GO Biological Process (4): DNA replication (GO:0006260), DNA replication, synthesis of primer (GO:0006269), DNA replication initiation (GO:0006270), protein import into nucleus (GO:0006606)

GO Molecular Function (2): DNA binding (GO:0003677), protein binding (GO:0005515)

GO Cellular Component (5): nucleoplasm (GO:0005654), alpha DNA polymerase:primase complex (GO:0005658), cytosol (GO:0005829), ciliary basal body (GO:0036064), nucleus (GO:0005634)

Reactome top-level categories

Rollup of top-9 pathways:

Category	Pathways
Telomere C-strand (Lagging Strand) Synthesis	2
Lagging Strand Synthesis	2
E2F mediated regulation of DNA replication	1
Synthesis of DNA	1
DNA Replication Pre-Initiation	1
G1/S Transition	1
Leading Strand Synthesis	1
Processive synthesis on the lagging strand	1
Diseases of programmed cell death	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
DNA metabolic process	2
DNA-templated DNA replication	2
cellular anatomical structure	2
DNA biosynthetic process	1
RNA biosynthetic process	1
intracellular protein transport	1
protein localization to nucleus	1
import into nucleus	1
establishment of protein localization to organelle	1
nucleic acid binding	1
binding	1
nuclear lumen	1
DNA polymerase complex	1
nuclear replisome	1
nuclear DNA-directed RNA polymerase complex	1
cytoplasm	1
microtubule organizing center	1
cilium	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

1686 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
POLA2	PRIM1	P49642	999
POLA2	PRIM2	P49643	998
POLA2	POLA1	P09884	995
POLA2	POLE2	P56282	838
POLA2	POLD2	P49005	784
POLA2	POLD1	P28340	691
POLA2	POLE3	Q9NRF9	689
POLA2	POLE4	Q9NR33	634
POLA2	CDC6	Q99741	624
POLA2	RFC3	P40938	621
POLA2	RFC4	P35249	614
POLA2	GINS2	Q9Y248	612
POLA2	CDC45	O75419	602
POLA2	CDT1	Q9H211	587
POLA2	STN1	Q9H668	586
POLA2	MCM4	P33991	586

IntAct

121 interactions, top by confidence:

A	B	Type	Score
CDK8	MED19	psi-mi:“MI:2364”(proximity)	0.850
RAC1	RAP1GDS1	psi-mi:“MI:0914”(association)	0.800
POLA2	rep	psi-mi:“MI:0915”(physical association)	0.760
ARPC5	ARPC3	psi-mi:“MI:0914”(association)	0.730
rep	POLA1	psi-mi:“MI:0914”(association)	0.670
PRIM1	POLA1	psi-mi:“MI:0914”(association)	0.640
CASP6	POLA2	psi-mi:“MI:0915”(physical association)	0.560
POLA2	ERN1	psi-mi:“MI:0915”(physical association)	0.560
POLA2	FKBP1A	psi-mi:“MI:0915”(physical association)	0.560
HSPA2	POLA2	psi-mi:“MI:0915”(physical association)	0.560
LAMP2	POLA2	psi-mi:“MI:0915”(physical association)	0.560
RAN	POLA2	psi-mi:“MI:0915”(physical association)	0.560
POLA2	SARS1	psi-mi:“MI:0915”(physical association)	0.560
STIP1	POLA2	psi-mi:“MI:0915”(physical association)	0.560
POLA2	SH3GLB1	psi-mi:“MI:0915”(physical association)	0.560
PRPF40A	POLA2	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (177): POLA2 (Affinity Capture-MS), POLA1 (Co-fractionation), POLA2 (Co-fractionation), PRIM1 (Co-fractionation), SCYL1 (Co-fractionation), POLA2 (Affinity Capture-MS), POLA2 (Affinity Capture-MS), POLA2 (Affinity Capture-MS), POLA2 (Affinity Capture-MS), POLA2 (Affinity Capture-MS), POLA2 (Affinity Capture-MS), POLA2 (Affinity Capture-MS), POLA2 (Affinity Capture-MS), POLA2 (Affinity Capture-MS), POLA2 (Affinity Capture-MS)

ESM2 similar proteins: A2RVK7, A2X0Q3, A6QLJ3, O00442, O23617, O81147, O81852, P0CT46, P31754, P37142, P48605, P49080, P49368, P80318, Q01415, Q06265, Q14181, Q2HJ88, Q2KHU3, Q3SWZ4, Q3T0K2, Q4QR75, Q4R3J0, Q4R963, Q5NVF9, Q5R6J8, Q5R7P3, Q5RCW2, Q5RGJ5, Q5XJQ5, Q69LE7, Q6P502, Q6STH5, Q6YXZ7, Q7YRA3, Q84T68, Q8C3X4, Q8GZQ3, Q8K1R3, Q8N442

Diamond homologs: O74946, O89043, P38121, Q14181, Q58D13, P33611

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
POLA2	“form complex”	“DNA polymerase alpha:primase complex”	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	1
Uncertain significance	73
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
2683897	NC_000011.10:g.65259530_65263529del	Pathogenic
2690929	NM_002689.4(POLA2):c.287T>C (p.Ile96Thr)	Likely pathogenic

SpliceAI

3130 predictions. Top by Δscore:

Variant	Effect	Δscore
11:65262367:GAAAT:G	donor_gain	1.0000
11:65262372:G:GG	donor_gain	1.0000
11:65266578:ACAGT:A	acceptor_gain	1.0000
11:65266580:A:AG	acceptor_gain	1.0000
11:65266580:AGT:A	acceptor_gain	1.0000
11:65266581:G:GG	acceptor_gain	1.0000
11:65266581:GTG:G	acceptor_gain	1.0000
11:65267475:A:AG	acceptor_gain	1.0000
11:65267476:G:GG	acceptor_gain	1.0000
11:65267602:C:G	donor_gain	1.0000
11:65275890:AG:A	acceptor_gain	1.0000
11:65275891:GG:G	acceptor_gain	1.0000
11:65275994:CCAAG:C	donor_loss	1.0000
11:65275995:CAAGG:C	donor_loss	1.0000
11:65275996:AAGGT:A	donor_loss	1.0000
11:65275998:GGT:G	donor_loss	1.0000
11:65275999:GTATG:G	donor_loss	1.0000
11:65276000:T:G	donor_loss	1.0000
11:65278803:G:GT	donor_gain	1.0000
11:65279522:A:AG	acceptor_gain	1.0000
11:65279527:T:A	acceptor_gain	1.0000
11:65279528:G:A	acceptor_gain	1.0000
11:65279533:TGTA:T	acceptor_loss	1.0000
11:65279536:A:AC	acceptor_loss	1.0000
11:65279536:A:AG	acceptor_gain	1.0000
11:65279537:G:GT	acceptor_gain	1.0000
11:65279537:GT:G	acceptor_gain	1.0000
11:65279537:GTT:G	acceptor_gain	1.0000
11:65279537:GTTC:G	acceptor_gain	1.0000
11:65279537:GTTCT:G	acceptor_gain	1.0000

AlphaMissense

3877 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:65289054:G:A	G379D	0.994
11:65287749:G:A	G347E	0.993
11:65287797:T:C	L363P	0.993
11:65295967:T:C	S542P	0.993
11:65297146:C:A	N558K	0.993
11:65297146:C:G	N558K	0.993
11:65289060:T:C	F381S	0.988
11:65297138:T:C	C556R	0.988
11:65281011:G:A	G255D	0.987
11:65281136:T:C	F297L	0.987
11:65281138:T:A	F297L	0.987
11:65281138:T:G	F297L	0.987
11:65281146:A:C	Q300P	0.987
11:65287754:T:G	Y349D	0.987
11:65287832:T:C	C375R	0.987
11:65289053:G:C	G379R	0.987
11:65294190:G:C	D428H	0.987
11:65295974:T:C	L544P	0.987
11:65281062:T:C	L272P	0.985
11:65287748:G:A	G347R	0.985
11:65287748:G:C	G347R	0.985
11:65289054:G:T	G379V	0.985
11:65294615:G:C	D475H	0.985
11:65287839:T:C	L377P	0.984
11:65297144:A:G	N558D	0.984
11:65297157:T:C	L562P	0.984
11:65297178:G:A	G569D	0.984
11:65281134:T:C	L296P	0.983
11:65287749:G:T	G347V	0.983
11:65294176:T:A	V423D	0.983

dbSNP variants (sampled 300 via entrez): RS1000084332 (11:65278648 A>G), RS1000275740 (11:65269282 A>G), RS1000329695 (11:65292916 G>A), RS1000333923 (11:65303191 A>T), RS1000409375 (11:65262596 A>G), RS1000591412 (11:65284372 C>T), RS1000599585 (11:65284492 A>G), RS1000714229 (11:65269554 T>C), RS1000719672 (11:65291007 G>A), RS1000784083 (11:65292458 G>A), RS1000870986 (11:65297782 C>G), RS1000881489 (11:65303372 T>C,G), RS1000985113 (11:65297929 C>T), RS1001032442 (11:65291714 GT>G), RS1001069947 (11:65291295 C>G)

Disease associations

OMIM: gene MIM:620063 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
telomere syndrome	Strong	Autosomal recessive

Mondo (1): telomere syndrome (MONDO:0100137)

Orphanet (0):

HPO phenotypes

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

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST002481_8	Acne (severe)	3.000000e-11
GCST010512_16	Serum uric acid levels	2.000000e-29
GCST90000025_161	Appendicular lean mass	3.000000e-10
GCST90020028_1989	Hip circumference adjusted for BMI	5.000000e-09

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0004761	uric acid measurement
EFO:0004980	appendicular lean mass
EFO:0008039	BMI-adjusted hip circumference

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL2363042 (PROTEIN FAMILY)

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

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs487989	POLA2		0.00	0

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases abundance, increases expression, decreases expression	3
Cyclosporine	decreases expression	3
Benzo(a)pyrene	increases expression	2
Cisplatin	affects cotreatment, increases expression	2
Nickel	increases expression	2
aristolochic acid I	decreases expression	1
GSK-J4	decreases expression	1
afuresertib	decreases expression	1
FR900359	affects phosphorylation	1
TAK-243	increases sumoylation	1
triphenyl phosphate	affects expression	1
pirinixic acid	affects binding, decreases expression, increases activity	1
bisphenol A	decreases expression	1
2,2’-methylenebis(4-methyl-6-tert-butylphenol)	affects expression, affects response to substance	1
N(4)-hydroxycytidine	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
cobaltous chloride	decreases expression	1
zinc chromate	decreases expression, increases abundance	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, increases expression	1
coumarin	increases phosphorylation	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
phenethyl isothiocyanate	decreases expression	1
chromium hexavalent ion	decreases expression, increases abundance	1
perfluoro-n-nonanoic acid	decreases expression	1
erucylphospho-N,N,N-trimethylpropylammonium	decreases expression	1
trans-10,cis-12-conjugated linoleic acid	decreases expression	1
palbociclib	decreases expression	1
jinfukang	affects cotreatment, increases expression	1
incobotulinumtoxinA	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT04232085	PHASE2	RECRUITING	Regenerative Medicine to Restore Hematopoiesis and Immune Function in Immunodeficiencies and Inherited Bone Marrow Failures
NCT05813327	PHASE1	ACTIVE_NOT_RECRUITING	Neoadjuvant ADI-PEG 20 + Ifosfamide + Radiotherapy in Soft Tissue Sarcoma