POLDIP3

Summary

POLDIP3 (DNA polymerase delta interacting protein 3, HGNC:23782) is a protein-coding gene on chromosome 22q13.2, encoding Polymerase delta-interacting protein 3 (Q9BY77). Is involved in regulation of translation.

This gene encodes an RRM (RNA recognition motif)-containing protein that participates in the regulation of translation by recruiting ribosomal protein S6 kinase beta-1 to mRNAs. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 84271 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 72 total
• MANE Select transcript: NM_032311

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:23782
Approved symbol	POLDIP3
Name	DNA polymerase delta interacting protein 3
Location	22q13.2
Locus type	gene with protein product
Status	Approved
Aliases	PDIP46, KIAA1649, SKAR, PDIP3
Ensembl gene	ENSG00000100227
Ensembl biotype	protein_coding
OMIM	611520
Entrez	84271

Gene structure

Transcript identifiers

Ensembl transcripts: 16 — 12 protein_coding, 3 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000252115, ENST00000339677, ENST00000348657, ENST00000445215, ENST00000451060, ENST00000454057, ENST00000463133, ENST00000491021, ENST00000897330, ENST00000897331, ENST00000929276, ENST00000929277, ENST00000929278, ENST00000929279, ENST00000929280, ENST00000957046

RefSeq mRNA: 4 — MANE Select: NM_032311 NM_001278657, NM_001363052, NM_032311, NM_178136

CCDS: CCDS14038, CCDS14039, CCDS74873

Canonical transcript exons

ENST00000252115 — 9 exons

Exon	Start	End
ENSE00001174637	42602770	42603160
ENSE00003487565	42599698	42599793
ENSE00003528943	42596186	42596365
ENSE00003611160	42587506	42587572
ENSE00003618547	42595537	42595614
ENSE00003629561	42601970	42602056
ENSE00003642393	42583721	42585968
ENSE00003663896	42591955	42592084
ENSE00003848181	42614799	42614883

Expression profiles

Bgee: expression breadth ubiquitous, 299 present calls, max score 97.12.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 59.9374 / max 315.5645, expressed in 1824 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
194439	44.9853	1822
194440	11.2687	1800
194438	3.0503	1517
194437	0.3954	191
194436	0.2377	90

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
ventricular zone	UBERON:0003053	97.12	gold quality
ganglionic eminence	UBERON:0004023	96.21	gold quality
left ovary	UBERON:0002119	95.77	gold quality
oocyte	CL:0000023	95.61	gold quality
right ovary	UBERON:0002118	95.31	gold quality
ovary	UBERON:0000992	94.71	gold quality
embryo	UBERON:0000922	94.32	gold quality
granulocyte	CL:0000094	94.11	gold quality
cortical plate	UBERON:0005343	94.08	gold quality
right uterine tube	UBERON:0001302	94.05	gold quality
islet of Langerhans	UBERON:0000006	93.77	gold quality
cardia of stomach	UBERON:0001162	93.76	gold quality
body of uterus	UBERON:0009853	93.69	gold quality
cartilage tissue	UBERON:0002418	93.54	gold quality
body of stomach	UBERON:0001161	93.46	gold quality
lower esophagus mucosa	UBERON:0035834	93.43	gold quality
endocervix	UBERON:0000458	93.15	gold quality
stomach	UBERON:0000945	93.10	gold quality
fundus of stomach	UBERON:0001160	92.82	gold quality
right lobe of thyroid gland	UBERON:0001119	92.81	gold quality
lymph node	UBERON:0000029	92.76	gold quality
leukocyte	CL:0000738	92.70	gold quality
apex of heart	UBERON:0002098	92.60	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	92.60	gold quality
left lobe of thyroid gland	UBERON:0001120	92.56	gold quality
mucosa of transverse colon	UBERON:0004991	92.56	gold quality
monocyte	CL:0000576	92.53	gold quality
smooth muscle tissue	UBERON:0001135	92.53	gold quality
left uterine tube	UBERON:0001303	92.53	gold quality
tibial nerve	UBERON:0001323	92.53	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	7.29

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): SP1

miRNA regulators (miRDB)

87 targeting POLDIP3, 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-8485	100.00	77.57	4731
HSA-MIR-188-3P	100.00	68.76	1240
HSA-MIR-5193	100.00	67.26	1744
HSA-MIR-150-5P	99.99	66.69	1976
HSA-MIR-3667-3P	99.99	67.17	1636
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-2110	99.96	66.68	1930
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-4267	99.96	66.53	2368
HSA-MIR-7-1-3P	99.91	71.53	4384
HSA-MIR-7-2-3P	99.91	71.40	4394
HSA-MIR-5680	99.91	69.83	3421
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-4496	99.88	68.89	2236
HSA-MIR-6124	99.87	69.78	3551
HSA-MIR-3941	99.86	70.54	2735
HSA-MIR-4739	99.84	65.25	1832
HSA-MIR-3180-5P	99.82	69.12	2422
HSA-MIR-4694-3P	99.79	69.53	2640
HSA-MIR-33A-3P	99.70	70.27	3362
HSA-MIR-6887-3P	99.66	67.83	1778
HSA-MIR-3202	99.66	67.70	2737
HSA-MIR-5003-5P	99.61	69.13	1624
HSA-MIR-488-3P	99.61	68.79	1731
HSA-MIR-4261	99.59	70.30	3415
HSA-MIR-3136-3P	99.57	66.59	781
HSA-MIR-7155-3P	99.57	66.48	794
HSA-MIR-7106-5P	99.53	67.47	3574
HSA-MIR-143-3P	99.49	69.05	1457

Literature-anchored findings (GeneRIF, showing 9)

• SKAR is a specific target of S6K1 and regulates cell growth. (PMID:15341740)
• This study showed that PDIP46 aka SKAR, a protein possessing one RNA recognition motif (RRM) and being a protein partner of both the p50 subunit of DNA polymerase delta and p70 ribosomal protein S6 kinase 1 (S6K1). (PMID:16984396)
• SKAR-mediated recruitment of activated S6K1 to newly processed mRNPs serves as a conduit between mTOR checkpoint signaling and the pioneer round of translation when cells exist in conditions supportive of protein synthesis. (PMID:18423201)
• Alteration of POLDIP3 splicing associated with loss of function of TDP-43 in tissues affected with amyotrophic lateral sclerosis (ALS) . (PMID:22900096)
• PDIP3 and ZC11A associate with the human TREX complex in an ATP-dependent manner and function in mRNA export. (PMID:22928037)
• these findings establish critical and essential roles for SKAR in the regulation of mRNA translation of IFN-sensitive genes and induction of IFN-alpha biological responses. (PMID:25049393)
• hnRNP-U inhibits TDP-43-mediated alterations in splicing of POLDIP3 mRNA. (PMID:25378556)
• Altered expression of PDIP46 or its mutation may affect Pol delta functions in vivo, and thereby be a nexus for altered genomic stability. (PMID:26819372)
• Human RTEL1 associates with Poldip3 to facilitate responses to replication stress and R-loop resolution. (PMID:32561545)

Cross-species orthologs

7 orthologs

Organism	Symbol	Gene ID
danio_rerio	poldip3	ENSDARG00000099375
mus_musculus	Poldip3	ENSMUSG00000041815
rattus_norvegicus	Poldip3	ENSRNOG00000022877
drosophila_melanogaster	CG18259	FBGN0030956
drosophila_melanogaster	CG6961	FBGN0030959
caenorhabditis_elegans		WBGENE00000121
caenorhabditis_elegans		WBGENE00000122

Paralogs (2): CHTOP (ENSG00000160679), ALYREF (ENSG00000183684)

Protein

Protein identifiers

Polymerase delta-interacting protein 3 — Q9BY77 (reviewed: Q9BY77)

Alternative names: 46 kDa DNA polymerase delta interaction protein, S6K1 Aly/REF-like target

All UniProt accessions (4): Q9BY77, F6VRR5, F8WCX5, Q6R954

UniProt curated annotations — full annotation on UniProt →

Function. Is involved in regulation of translation. Is preferentially associated with CBC-bound spliced mRNA-protein complexes during the pioneer round of mRNA translation. Contributes to enhanced translational efficiency of spliced over nonspliced mRNAs. Recruits activated ribosomal protein S6 kinase beta-1 I/RPS6KB1 to newly synthesized mRNA. Involved in nuclear mRNA export; probably mediated by association with the TREX complex.

Subunit / interactions. Interacts with POLD2. Interacts with NCBP1 and EIF4A3. Associates with the multiprotein exon junction complex (EJC). Interacts with RPS6KB1 (activated). Interacts with ERH. Interacts with THOC2, DDX39B and ZC3H11A; the interactions are ATP-dependent and indicative for an association with the TREX complex.

Subcellular location. Nucleus. Nucleus speckle. Cytoplasm.

Post-translational modifications. Phosphorylated at Ser-383 and Ser-385 by RPS6KB1.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9BY77-1	1	yes
Q9BY77-2	2

RefSeq proteins (4): NP_001265586, NP_001349981, NP_115687, NP_835237 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000504	RRM_dom	Domain
IPR012677	Nucleotide-bd_a/b_plait_sf	Homologous_superfamily
IPR034784	PDIP3_RRM	Domain
IPR035979	RBD_domain_sf	Homologous_superfamily
IPR051229	ALYREF_mRNA_export	Family

Pfam: PF00076

UniProt features (26 total): modified residue 13, cross-link 5, mutagenesis site 2, initiator methionine 1, chain 1, domain 1, splice variant 1, region of interest 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BY77-F1	62.45	0.17

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): 140, 204, 215, 217, 244, 275, 383, 385, 200, 223, 248, 372, 418, 2, 5, 33, 44, 127

Mutagenesis-validated functional residues (2):

Position	Phenotype
383	reduces in vitro phosphorylation by rps6kb1. abolishes in vitro phosphorylation by rps6kb1; when associated with a-385.
385	reduces in vitro phosphorylation by rps6kb1. reduces in vitro phosphorylation by rps6kb1; when associated with a-383.

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-159236	Transport of Mature mRNA derived from an Intron-Containing Transcript
R-HSA-72187	mRNA 3’-end processing
R-HSA-73856	RNA Polymerase II Transcription Termination

MSigDB gene sets: 220 (showing top): WWTAAGGC_UNKNOWN, MODULE_255, MODULE_317, GOBP_TRANSLATION, GOBP_NUCLEAR_TRANSPORT, PID_MTOR_4PATHWAY, GOBP_POST_TRANSCRIPTIONAL_REGULATION_OF_GENE_EXPRESSION, MCAATNNNNNGCG_UNKNOWN, MARTINEZ_RB1_TARGETS_DN, REACTOME_MRNA_3_END_PROCESSING, OCT1_03, REACTOME_PROCESSING_OF_CAPPED_INTRON_CONTAINING_PRE_MRNA, GOBP_NUCLEOBASE_CONTAINING_COMPOUND_TRANSPORT, SCHAEFFER_PROSTATE_DEVELOPMENT_6HR_DN, ACATTCC_MIR1_MIR206

GO Biological Process (4): poly(A)+ mRNA export from nucleus (GO:0016973), positive regulation of translation (GO:0045727), regulation of translation (GO:0006417), mRNA transport (GO:0051028)

GO Molecular Function (5): RNA binding (GO:0003723), mRNA binding (GO:0003729), protein-containing complex binding (GO:0044877), nucleic acid binding (GO:0003676), protein binding (GO:0005515)

GO Cellular Component (6): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), cytosol (GO:0005829), nuclear speck (GO:0016607), cytoplasmic ribonucleoprotein granule (GO:0036464)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Transport of Mature Transcript to Cytoplasm	1
Processing of Capped Intron-Containing Pre-mRNA	1
RNA Polymerase II Transcription	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	3
cellular anatomical structure	3
translation	2
cytoplasm	2
mRNA export from nucleus	1
regulation of translation	1
positive regulation of gene expression	1
positive regulation of protein metabolic process	1
post-transcriptional regulation of gene expression	1
regulation of protein metabolic process	1
RNA transport	1
nucleic acid binding	1
RNA binding	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
intracellular anatomical structure	1
nuclear ribonucleoprotein granule	1
ribonucleoprotein granule	1

Protein interactions and networks

STRING

2584 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
POLDIP3	SARNP	P82979	966
POLDIP3	DDX39B	Q13838	964
POLDIP3	FYTTD1	Q96QD9	907
POLDIP3	RPS6KB1	P23443	892
POLDIP3	SHC1	P29353	852
POLDIP3	ALYREF	Q86V81	846
POLDIP3	SHCBP1	Q8NEM2	825
POLDIP3	CHTOP	Q9Y3Y2	799
POLDIP3	RPS6KB2	Q9UBS0	794
POLDIP3	PURB	Q96QR8	793
POLDIP3	PURA	Q00577	791
POLDIP3	HAT1	O14929	780
POLDIP3	EIF4A3	P38919	770
POLDIP3	ERH	P70659	740
POLDIP3	OAS1	P00973	726

IntAct

162 interactions, top by confidence:

A	B	Type	Score
USE1	NBAS	psi-mi:“MI:0914”(association)	0.640
POLDIP3	EIF4A3	psi-mi:“MI:0914”(association)	0.620
NCBP1	POLDIP3	psi-mi:“MI:0914”(association)	0.560
POLDIP3	NCBP1	psi-mi:“MI:0915”(physical association)	0.560
NCBP3	SAP18	psi-mi:“MI:0914”(association)	0.530
EZH1	EPOP	psi-mi:“MI:0914”(association)	0.530
CSF1R	EPHB2	psi-mi:“MI:0914”(association)	0.500
POLDIP3	UBR1	psi-mi:“MI:0915”(physical association)	0.500
EIF4A3	SAP18	psi-mi:“MI:0915”(physical association)	0.500
EIF4A3	SAP18	psi-mi:“MI:0914”(association)	0.500
DDX21	MED19	psi-mi:“MI:2364”(proximity)	0.480
RAB11A	LANCL1	psi-mi:“MI:2364”(proximity)	0.420
TGOLN2	PGRMC1	psi-mi:“MI:0914”(association)	0.420
MST1R	UBL4A	psi-mi:“MI:0914”(association)	0.420
POLDIP3	H2BC9	psi-mi:“MI:0915”(physical association)	0.400
POLDIP3	H1-5	psi-mi:“MI:0915”(physical association)	0.400
Erh	BCLAF3	psi-mi:“MI:0915”(physical association)	0.400
GOLGA2	POLDIP3	psi-mi:“MI:0915”(physical association)	0.370
Fto	POLDIP3	psi-mi:“MI:0915”(physical association)	0.370
THOC2		psi-mi:“MI:0914”(association)	0.350
THOC1	TARS3	psi-mi:“MI:0914”(association)	0.350
THOC5	MYO1G	psi-mi:“MI:0914”(association)	0.350
THOC7	ALYREF	psi-mi:“MI:0914”(association)	0.350
PFKFB2		psi-mi:“MI:0914”(association)	0.350
BCLAF1	PABPN1	psi-mi:“MI:0914”(association)	0.350
MYH7B	SRRM1	psi-mi:“MI:0914”(association)	0.350
FYCO1	RFT1	psi-mi:“MI:0914”(association)	0.350
Max	PABPN1	psi-mi:“MI:0914”(association)	0.350
Chmp4b	BDP1	psi-mi:“MI:0914”(association)	0.350
RNASEH2A	PHF20L1	psi-mi:“MI:0914”(association)	0.350

BioGRID (301): POLDIP3 (Affinity Capture-Western), NCBP1 (Affinity Capture-Western), EIF4A3 (Affinity Capture-Western), POLDIP3 (Affinity Capture-Western), EIF4G1 (Affinity Capture-Western), POLDIP3 (Biochemical Activity), POLDIP3 (Reconstituted Complex), POLDIP3 (Two-hybrid), POLDIP3 (Two-hybrid), POLDIP3 (Two-hybrid), POLDIP3 (Two-hybrid), LZTS2 (Two-hybrid), KRT40 (Two-hybrid), POLDIP3 (Affinity Capture-RNA), POLDIP3 (Affinity Capture-RNA)

ESM2 similar proteins: A0JM64, A4IHD9, B5DF93, D3ZTQ1, E7F1H9, O70305, P70501, Q12872, Q13625, Q2NLB0, Q2T9I5, Q32SG5, Q3TC46, Q3TCX3, Q3USH5, Q498K9, Q566L7, Q5R413, Q5R8Q4, Q5SFM8, Q5T8P6, Q5ZL54, Q62415, Q66IJ0, Q68FI1, Q6DDU9, Q6GP15, Q6NXI6, Q6NZ18, Q6NZN0, Q6PEH8, Q7Z7F0, Q86TB9, Q8BG81, Q8CG79, Q8CGC4, Q8IZD4, Q8K2F8, Q8ND56, Q8R205

Diamond homologs: A0A0D1DZT6, A3LXL0, B1WC40, B5FXN8, B5G279, F4HT49, O08583, O22173, O35698, O64380, O75821, O93235, P04147, P19683, P19684, P27476, P29341, P42731, P49313, P49314, P52298, P57052, P60824, P60825, P60826, Q06106, Q08935, Q08937, Q09330, Q10355, Q13595, Q14011, Q1ZXC2, Q28CY2, Q28FB9, Q28IQ9, Q29RT0, Q2GSX8, Q3T0I4, Q3ZBJ1

SIGNOR signaling

3 interactions.

A	Effect	B	Mechanism
RPS6KB1	unknown	POLDIP3	phosphorylation
POLDIP3	“up-regulates activity”	“TREX complex”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 204 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
Transport of Mature Transcript to Cytoplasm	9	23.5×	8e-09
mRNA 3’-end processing	17	22.9×	2e-16
RNA Polymerase II Transcription Termination	12	18.1×	2e-10
Transport of Mature mRNA derived from an Intron-Containing Transcript	15	15.6×	5e-12
mRNA Splicing - Minor Pathway	7	10.7×	2e-04
Processing of Capped Intron-Containing Pre-mRNA	18	10.1×	2e-11
Deactivation of the beta-catenin transactivating complex	6	9.6×	2e-03
mRNA Polyadenylation	15	9.0×	8e-09

GO biological processes:

GO term	Partners	Fold	FDR
RNA export from nucleus	5	25.3×	2e-04
positive regulation of transcription by RNA polymerase III	5	25.3×	2e-04
negative regulation of mRNA splicing, via spliceosome	6	24.8×	3e-05
mRNA export from nucleus	11	17.6×	9e-09
positive regulation of transcription by RNA polymerase I	5	17.5×	1e-03
peptidyl-tyrosine phosphorylation	5	11.4×	7e-03
regulation of alternative mRNA splicing, via spliceosome	8	10.6×	2e-04
RNA splicing	20	9.5×	4e-11

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	55
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1492 predictions. Top by Δscore:

Variant	Effect	Δscore
22:42585964:GCCGC:G	acceptor_gain	1.0000
22:42585965:CCGCC:C	acceptor_gain	1.0000
22:42585966:CGC:C	acceptor_gain	1.0000
22:42585979:C:CT	acceptor_gain	1.0000
22:42585980:A:T	acceptor_gain	1.0000
22:42587504:A:AC	donor_gain	1.0000
22:42587505:C:CC	donor_gain	1.0000
22:42587505:CAG:C	donor_gain	1.0000
22:42591949:ACTT:A	donor_loss	1.0000
22:42591950:CTTA:C	donor_loss	1.0000
22:42591951:TTA:T	donor_loss	1.0000
22:42591952:TAC:T	donor_loss	1.0000
22:42591953:A:AC	donor_gain	1.0000
22:42591953:A:AG	donor_loss	1.0000
22:42591954:C:CA	donor_loss	1.0000
22:42591954:C:CC	donor_gain	1.0000
22:42595611:CAGG:C	acceptor_gain	1.0000
22:42596217:T:TA	donor_gain	1.0000
22:42596361:CCAGC:C	acceptor_gain	1.0000
22:42596362:CAGC:C	acceptor_gain	1.0000
22:42596362:CAGCC:C	acceptor_gain	1.0000
22:42596364:GCC:G	acceptor_loss	1.0000
22:42596365:CCTA:C	acceptor_loss	1.0000
22:42596366:C:CA	acceptor_loss	1.0000
22:42599790:AATT:A	acceptor_gain	1.0000
22:42599792:TT:T	acceptor_gain	1.0000
22:42599793:TCTGA:T	acceptor_loss	1.0000
22:42599794:C:CC	acceptor_gain	1.0000
22:42599794:CTG:C	acceptor_loss	1.0000
22:42599795:T:A	acceptor_loss	1.0000

AlphaMissense

2735 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
22:42585806:G:C	F417L	1.000
22:42585806:G:T	F417L	1.000
22:42585807:A:G	F417S	1.000
22:42585808:A:G	F417L	1.000
22:42587551:A:G	L348P	1.000
22:42587556:G:C	C346W	1.000
22:42587557:C:T	C346Y	1.000
22:42587558:A:G	C346R	1.000
22:42587563:A:C	M344R	1.000
22:42587563:A:G	M344T	1.000
22:42587563:A:T	M344K	1.000
22:42587572:C:A	G341V	1.000
22:42591956:G:C	D340E	1.000
22:42591956:G:T	D340E	1.000
22:42591957:T:A	D340V	1.000
22:42591958:C:G	D340H	1.000
22:42591960:A:G	L339P	1.000
22:42591960:A:T	L339Q	1.000
22:42591966:C:G	R337P	1.000
22:42591967:G:C	R337G	1.000
22:42591975:T:C	Y334C	1.000
22:42591975:T:G	Y334S	1.000
22:42591976:A:C	Y334D	1.000
22:42591976:A:G	Y334H	1.000
22:42591985:A:C	Y331D	1.000
22:42591987:G:T	A330E	1.000
22:42591988:C:G	A330P	1.000
22:42591996:G:T	A327D	1.000
22:42591997:C:G	A327P	1.000
22:42592013:A:C	F321L	1.000

dbSNP variants (sampled 300 via entrez): RS1000033665 (22:42598141 G>A), RS1000066342 (22:42596602 G>A), RS1000105175 (22:42597844 A>T), RS1000195915 (22:42615512 C>G,T), RS1000297680 (22:42601852 A>G,T), RS1000309711 (22:42607365 G>A,C), RS1000381211 (22:42607192 G>A), RS1000427289 (22:42585060 G>A,C), RS1000643617 (22:42615182 A>G), RS1000725176 (22:42588680 G>A), RS1000782796 (22:42588371 C>T), RS1000872941 (22:42606308 C>A), RS1000902791 (22:42600573 C>T), RS1000968006 (22:42611987 T>C,G), RS1001066909 (22:42595308 C>A,T)

Disease associations

OMIM: gene MIM:611520 | 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

28 total (human), top 28 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression	3
Plant Extracts	increases expression, decreases expression, affects cotreatment	2
FR900359	affects phosphorylation	1
bisphenol A	decreases expression	1
deoxynivalenol	increases expression	1
trichostatin A	affects expression	1
sodium arsenite	affects splicing, decreases reaction	1
cobaltous chloride	decreases expression	1
coumarin	increases phosphorylation	1
beta-methylcholine	affects expression	1
di-n-butylphosphoric acid	affects expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
abrine	increases expression	1
LDN 193189	affects cotreatment, decreases expression	1
Resveratrol	affects cotreatment, increases expression	1
Acetaminophen	decreases expression	1
Caffeine	affects phosphorylation	1
Dexamethasone	increases response to substance	1
Ivermectin	decreases expression	1
Lead	affects splicing	1
Methotrexate	increases expression	1
Ribonucleotides	affects binding	1
Selenium	increases expression	1
Smoke	decreases expression	1
Aflatoxin B1	increases methylation	1
Cadmium Chloride	decreases expression	1
Copper Sulfate	decreases expression	1
Sirolimus	affects splicing, decreases reaction	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B2BE	Abcam HeLa POLDIP3 KO	Cancer cell line	Female

Clinical trials (associated diseases)

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