PLAGL2

Summary

PLAGL2 (PLAG1 like zinc finger 2, HGNC:9047) is a protein-coding gene on chromosome 20q11.21, encoding Zinc finger protein PLAGL2 (Q9UPG8). Shows weak transcriptional activatory activity.

Pleiomorphic adenoma gene-like 2 is a zinc-finger protein that recognizes DNA and/or RNA.

Source: NCBI Gene 5326 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 64 total
• MANE Select transcript: NM_002657

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:9047
Approved symbol	PLAGL2
Name	PLAG1 like zinc finger 2
Location	20q11.21
Locus type	gene with protein product
Status	Approved
Aliases	ZNF900
Ensembl gene	ENSG00000126003
Ensembl biotype	protein_coding
OMIM	604866
Entrez	5326

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000246229

RefSeq mRNA: 1 — MANE Select: NM_002657 NM_002657

CCDS: CCDS13197

Canonical transcript exons

ENST00000246229 — 3 exons

Exon	Start	End
ENSE00000859920	32192504	32197682
ENSE00000859921	32201919	32202292
ENSE00001048795	32207641	32207743

Expression profiles

Bgee: expression breadth ubiquitous, 222 present calls, max score 93.48.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 24.8191 / max 240.5106, expressed in 1810 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
186907	24.8191	1810

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sperm	CL:0000019	93.48	gold quality
male germ cell	CL:0000015	90.50	gold quality
monocyte	CL:0000576	87.74	gold quality
leukocyte	CL:0000738	87.32	gold quality
mononuclear cell	CL:0000842	87.31	gold quality
secondary oocyte	CL:0000655	86.33	gold quality
lower esophagus mucosa	UBERON:0035834	85.36	gold quality
granulocyte	CL:0000094	84.07	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	83.83	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	83.75	gold quality
oocyte	CL:0000023	82.96	gold quality
amniotic fluid	UBERON:0000173	82.67	gold quality
buccal mucosa cell	CL:0002336	82.47	gold quality
right testis	UBERON:0004534	82.46	gold quality
left testis	UBERON:0004533	82.34	gold quality
ileal mucosa	UBERON:0000331	82.20	gold quality
testis	UBERON:0000473	81.81	gold quality
esophagus mucosa	UBERON:0002469	81.10	gold quality
ventricular zone	UBERON:0003053	81.07	gold quality
mucosa of transverse colon	UBERON:0004991	80.23	gold quality
pancreatic ductal cell	CL:0002079	80.07	silver quality
hindlimb stylopod muscle	UBERON:0004252	79.25	gold quality
bone marrow cell	CL:0002092	79.14	gold quality
ganglionic eminence	UBERON:0004023	79.04	gold quality
blood	UBERON:0000178	78.42	gold quality
rectum	UBERON:0001052	78.42	gold quality
small intestine Peyer’s patch	UBERON:0003454	78.36	gold quality
esophagus	UBERON:0001043	78.23	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	77.85	gold quality
body of stomach	UBERON:0001161	77.76	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	5.39

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

9 targets.

Target	Regulation
IGF2	Activation
METAP2	Activation
MPL
NCF2	Activation
PLAGL2
SFTPB
SFTPC	Activation
STXBP1
TNF

JASPAR motifs

Motif	Name	Family
MA1548.1	PLAGL2	More than 3 adjacent zinc fingers
MA1548.2	PLAGL2	More than 3 adjacent zinc fingers

JASPAR matrix evidence (PMIDs): PMID:11832486

Upstream regulators (CollecTRI, top): PLAGL2

miRNA regulators (miRDB)

372 targeting PLAGL2, 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-6851-5P	100.00	65.63	1294
HSA-MIR-3689D	100.00	66.14	1181
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-3925-3P	100.00	69.95	1237
HSA-MIR-4283	100.00	66.42	2097
HSA-MIR-4481	100.00	66.42	1669
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-6748-5P	100.00	65.81	1057
HSA-MIR-4510	100.00	66.60	2050
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-6758-5P	100.00	66.21	1470
HSA-MIR-6856-5P	100.00	65.47	1298
HSA-MIR-1184	99.99	68.19	1458
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-6870-5P	99.99	68.55	2115
HSA-MIR-548C-3P	99.99	74.01	7587

Literature-anchored findings (GeneRIF, showing 36)

• PLAGL2 may modulate SP-C expression during lung development. (PMID:15361364)
• Plag1 and Plagl2 are novel leukemia oncogenes that act by expanding hematopoietic progenitors expressing CbF beta-SMMHC. (PMID:15585652)
• These data clearly identify PLAGL2 as a novel regulator of NCF2/p67phox gene expression as well as NADPH oxidase activity and contribute to a greater understanding of the transcriptional regulation of NCF2. (PMID:17462995)
• Coexpression of Tip60 and PLAGL2 completely abolishes the sumoylation of PLAGL2. (PMID:17551969)
• Nuclear PLAGL2 occupied and transactivated the endogenous SP-C promoter in hypoxic lung cells.These results further suggest that PLAGL2 is an oxidative stress responding regulator in lung cells. (PMID:17618602)
• This study thus uncovers a novel function of PLAGL2 as an oncoprotein through regulating the stability of Pirh2. (PMID:17950244)
• These data suggests that Ubc9 can function as a co-factor of PLAGL2, uncoupling from its enzymatic activity, to mediate PLAGL2 interactive SP-C promoter activity. (PMID:18655774)
• Increased cell injury and/or death could be caused directly by the upregulation of bNip3, a preapoptotic molecule that dimerizes with Bcl-2, or indirectly by the aberrant expression of SP-C-induced endoplasmic reticulum stress in epithelial cells. (PMID:19574421)
• The data identify PC2 as a novel PLAGL2-binding protein and important mediator of PLAGL2 transactivation. (PMID:20025940)
• Transcriptome analysis revealed that these differentiation-suppressive activities are attributable in part to PLAGL2 modulation of Wnt/beta-catenin signaling (PMID:20478531)
• PLAGL2 regulate cell cycle and apoptosis via activation of the p53 family member, p73, in human promonocytic U937 cells. (PMID:22076304)
• PLAGL2 expression induces lamellipodia formation and disruption of stress fiber formation. (PMID:24675530)
• Our findings indicate that PALGL2 serves as a tumor oncoprotein in the development and progression of colorectal cancer (PMID:25031728)
• increased expression correlates to prostate cancer progression following radical prostatectomy and may serve as novel poor prognostic marker (PMID:27537362)
• Our findings indicated that PLAGL2 might be a very upstream key molecule regulating Epithelial-mesenchymal transition involved in Wnt/bcatenin signaling pathway in Colorectal adenocarcinoma (PMID:28259923)
• overexpression of miR-449a inhibited the expression of PLAGL2 significantly and the knockdown of PLAGL2 expression inhibited the breast cancer cell proliferation and metastasis (PMID:29653747)
• PLAGL2 is highly expressed in the bladder urothelial carcinoma tissue and metastatic lymph node relative to the normal bladder tissue. (PMID:29662235)
• PLAGL2 expression is strongly associated with an IESC signature in colorectal cancer and may be responsible for contributing to the aberrant activation of an immature phenotype. (PMID:30017821)
• DJ-1 can promote CRC metastasis by activating PLAGL2-Wnt-BMP4 axis. (PMID:30158634)
• Study results indicated that PLAGL2 was overexpressed in colorectal cancer (CRC) as a protooncogene and that it could active the Wnt/betacatenin pathway as a transcription factor by binding with the promoter region of Wnt6. (PMID:30535429)
• Increased miR-214 expression suppresses cell migration and proliferation in Hirschsprung disease by interacting with PLAGL2. (PMID:30822775)
• Our team identified for the first time a bidirectional promoter pair oncogene, PLAGL2-POFUT1, in colorectal cancer (CRC). (PMID:31279780)
• PLAGL2 and POFUT1 were common and upregulated in tumor samples in colorectal cancer (CRC). Survival analysis of PLAGL2 and POFUT1 expression revealed differences between proximal and distal CRC. PLAGL2 and POFUT1, which have the highest correlation with tumor location, may serve as biomarkers and therapeutic targets for the precise diagnosis and treatment of CRC in the future. (PMID:31638246)
• PLAGL2 promotes epithelial-mesenchymal transition and mediates colorectal cancer metastasis via beta-catenin-dependent regulation of ZEB1. (PMID:31827238)
• The PLAGL2/MYCN/miR-506-3p interplay regulates neuroblastoma cell fate and associates with neuroblastoma progression. (PMID:32087738)
• Hsa-circRNA-103809 Promotes Hepatocellular Carcinoma Development via MicroRNA-1270/PLAG1 Like Zinc Finger 2 Axis. (PMID:32683589)
• PLAGL2 promotes the proliferation and migration of gastric cancer cells via USP37-mediated deubiquitination of Snail1. (PMID:33391500)
• MiR-22-3p Suppresses Cell Migration and Invasion by Targeting PLAGL2 in Breast Cancer. (PMID:34320711)
• LncRNA HCP5 acts as a miR-128-3p sponge to promote the progression of multiple myeloma through activating Wnt/beta-catenin/cyclin D1 signaling via PLAGL2. (PMID:34331612)
• Selenium sulfide disrupts the PLAGL2/C-MET/STAT3-induced resistance against mitochondrial apoptosis in hepatocellular carcinoma. (PMID:34586726)
• PLAGL2 Promotes the Proliferation and Migration of Diffuse Large B-cell Lymphoma Cells via Wnt/beta-catenin Pathway. (PMID:35777795)
• PLAGL2 increases adriamycin resistance and EMT in breast cancer cells by activating the Wnt pathway. (PMID:36399309)
• Amplification of the PLAG-family genes-PLAGL1 and PLAGL2-is a key feature of the novel tumor type CNS embryonal tumor with PLAGL amplification. (PMID:36437415)
• Long non-coding RNA LGALS8-AS1 facilitates PLAGL2-mediated malignant phenotypes in gastric cancer. (PMID:36807469)
• PLAGL2 promotes Snail expression and gastric cancer progression via UCA1/miR-145-5p/YTHDF1 axis. (PMID:36999803)
• POFUT1 and PLAGL2 are characteristic markers of mucinous colorectal cancer associated with MUC2 expression. (PMID:38500386)

Cross-species orthologs

8 orthologs

Organism	Symbol	Gene ID
danio_rerio	plagx	ENSDARG00000036855
danio_rerio	plagl2	ENSDARG00000076657
mus_musculus	Plagl2	ENSMUSG00000051413
rattus_norvegicus	Plagl2	ENSRNOG00000010086
drosophila_melanogaster	hb	FBGN0001180
drosophila_melanogaster	CG12391	FBGN0033581
caenorhabditis_elegans		WBGENE00001824
caenorhabditis_elegans		WBGENE00012385

Paralogs (29): ZNF446 (ENSG00000083838), REST (ENSG00000084093), ZNF174 (ENSG00000103343), OVOL3 (ENSG00000105261), PLAGL1 (ENSG00000118495), ZSCAN18 (ENSG00000121413), ZNF576 (ENSG00000124444), OVOL2 (ENSG00000125850), ZSCAN5A (ENSG00000131848), ZSCAN29 (ENSG00000140265), ZSCAN32 (ENSG00000140987), ZSCAN1 (ENSG00000152467), ZNF18 (ENSG00000154957), ZKSCAN2 (ENSG00000155592), ZNF496 (ENSG00000162714), ZNF202 (ENSG00000166261), ZNF641 (ENSG00000167528), ZNF444 (ENSG00000167685), SCAND1 (ENSG00000171222), ZNF274 (ENSG00000171606), ZNF131 (ENSG00000172262), OVOL1 (ENSG00000172818), ZNF518A (ENSG00000177853), ZNF518B (ENSG00000178163), PLAG1 (ENSG00000181690), ZSCAN5B (ENSG00000197213), ZNF770 (ENSG00000198146), PEG3 (ENSG00000198300), ZSCAN5C (ENSG00000204532)

Protein

Protein identifiers

Zinc finger protein PLAGL2 — Q9UPG8 (reviewed: Q9UPG8)

Alternative names: Pleiomorphic adenoma-like protein 2

All UniProt accessions (1): Q9UPG8

UniProt curated annotations — full annotation on UniProt →

Function. Shows weak transcriptional activatory activity.

Subcellular location. Nucleus.

Similarity. Belongs to the krueppel C2H2-type zinc-finger protein family.

RefSeq proteins (1): NP_002648* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR013087	Znf_C2H2_type	Domain
IPR036236	Znf_C2H2_sf	Homologous_superfamily

Pfam: PF00096, PF13912

UniProt features (7 total): zinc finger region 6, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UPG8-F1	55.31	0.00

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 369 (showing top): AAGCAAT_MIR137, PAX4_01, AAGTCCA_MIR422B_MIR422A, GCANCTGNY_MYOD_Q6, SP3_Q3, AREB6_03, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_DN, ASTON_MAJOR_DEPRESSIVE_DISORDER_DN, GRAESSMANN_RESPONSE_TO_MC_AND_SERUM_DEPRIVATION_DN, GTTAAAG_MIR302B, MEF2_02, GOBP_PROTEIN_LIPID_COMPLEX_ASSEMBLY, AP2_Q3, CAGGTCC_MIR492, BROWNE_HCMV_INFECTION_12HR_UP

GO Biological Process (6): regulation of transcription by RNA polymerase II (GO:0006357), lipid metabolic process (GO:0006629), post-embryonic development (GO:0009791), chylomicron assembly (GO:0034378), positive regulation of intrinsic apoptotic signaling pathway (GO:2001244), positive regulation of transcription by RNA polymerase II (GO:0045944)

GO Molecular Function (8): DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA-binding transcription activator activity, RNA polymerase II-specific (GO:0001228), DNA-binding transcription factor activity (GO:0003700), zinc ion binding (GO:0008270), sequence-specific DNA binding (GO:0043565), DNA binding (GO:0003677), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (1): nucleus (GO:0005634)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
regulation of DNA-templated transcription	2
transcription by RNA polymerase II	2
regulation of transcription by RNA polymerase II	2
RNA polymerase II transcription regulatory region sequence-specific DNA binding	2
primary metabolic process	1
multicellular organism development	1
multicellular organismal process	1
plasma lipoprotein particle assembly	1
intrinsic apoptotic signaling pathway	1
positive regulation of intracellular signal transduction	1
positive regulation of apoptotic signaling pathway	1
regulation of intrinsic apoptotic signaling pathway	1
positive regulation of DNA-templated transcription	1
chromatin	1
DNA-binding transcription factor activity	1
DNA-binding transcription factor activity, RNA polymerase II-specific	1
DNA-binding transcription activator activity	1
positive regulation of transcription by RNA polymerase II	1
transcription cis-regulatory region binding	1
transcription regulator activity	1
transition metal ion binding	1
DNA binding	1
nucleic acid binding	1
binding	1
cation binding	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

1154 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PLAGL2	POFUT1	Q9H488	794
PLAGL2	KIF3B	O15066	743
PLAGL2	TM9SF4	Q92544	645
PLAGL2	ENC1	O14682	500
PLAGL2	GPR85	P60893	490
PLAGL2	UBE2I	P50550	462
PLAGL2	HCK	P08631	453
PLAGL2	RBBP8NL	Q8NC74	453
PLAGL2	SNX33	Q8WV41	453
PLAGL2	NWD2	Q9ULI1	453
PLAGL2	CRIPTO	P13385	450
PLAGL2	TWF1	Q12792	437
PLAGL2	ADNP2	Q6IQ32	431
PLAGL2	LURAP1	Q96LR2	419
PLAGL2	CABLES2	Q9BTV7	418

IntAct

149 interactions, top by confidence:

A	B	Type	Score
OIP5	PLAGL2	psi-mi:“MI:0915”(physical association)	0.560
SMARCD1	PLAGL2	psi-mi:“MI:0915”(physical association)	0.560
INO80B	PLAGL2	psi-mi:“MI:0915”(physical association)	0.560
MORN4	PLAGL2	psi-mi:“MI:0915”(physical association)	0.560
FAM90A1	PLAGL2	psi-mi:“MI:0915”(physical association)	0.560
MAPK1	PLAGL2	psi-mi:“MI:0915”(physical association)	0.560
PHC2	PLAGL2	psi-mi:“MI:0915”(physical association)	0.560
ARID5A	PLAGL2	psi-mi:“MI:0915”(physical association)	0.560
ZNF581	PLAGL2	psi-mi:“MI:0915”(physical association)	0.560
CATSPER1	PLAGL2	psi-mi:“MI:0915”(physical association)	0.560
SAMD11	PLAGL2	psi-mi:“MI:0915”(physical association)	0.560
CTNNA3	PLAGL2	psi-mi:“MI:0915”(physical association)	0.560
GYS1	PLAGL2	psi-mi:“MI:0915”(physical association)	0.560
TRIM41	PLAGL2	psi-mi:“MI:0915”(physical association)	0.560
OLIG3	PLAGL2	psi-mi:“MI:0915”(physical association)	0.560
PAX9	PLAGL2	psi-mi:“MI:0915”(physical association)	0.560
	PLAGL2	psi-mi:“MI:0915”(physical association)	0.560
KANK2	PLAGL2	psi-mi:“MI:0915”(physical association)	0.560
RHOBTB3	PLAGL2	psi-mi:“MI:0915”(physical association)	0.560
RIPPLY1	PLAGL2	psi-mi:“MI:0915”(physical association)	0.560
GPATCH2L	PLAGL2	psi-mi:“MI:0915”(physical association)	0.560
BCAS2	PLAGL2	psi-mi:“MI:0915”(physical association)	0.560
PRR35	PLAGL2	psi-mi:“MI:0915”(physical association)	0.560
GLYCTK	PLAGL2	psi-mi:“MI:0915”(physical association)	0.560
PIN1	PLAGL2	psi-mi:“MI:0915”(physical association)	0.560
IRX2	PLAGL2	psi-mi:“MI:0915”(physical association)	0.560
PLAGL2	ANKRD11	psi-mi:“MI:0915”(physical association)	0.560
VEZF1	PLAGL2	psi-mi:“MI:0915”(physical association)	0.560
TEKT3	PLAGL2	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (65): PLAGL2 (Two-hybrid), PLAGL2 (Two-hybrid), PLAGL2 (Two-hybrid), PLAGL2 (Two-hybrid), PLAGL2 (Two-hybrid), PLAGL2 (Two-hybrid), PLAGL2 (Two-hybrid), PLAGL2 (Two-hybrid), PLAGL2 (Two-hybrid), PLAGL2 (Two-hybrid), PLAGL2 (Two-hybrid), PLAGL2 (Two-hybrid), PLAGL2 (Two-hybrid), PLAGL2 (Two-hybrid), PIN1 (Two-hybrid)

ESM2 similar proteins: A1L2U9, A2APF3, A2BID7, A2VDT4, B1WAZ8, B1WBU4, G5E869, O08961, O14753, O43298, Q05516, Q0IH98, Q0VCJ6, Q13422, Q2I689, Q2M1K9, Q3U288, Q58NQ5, Q5NBY9, Q5TC79, Q5U2T6, Q6DJT9, Q6NS86, Q6ZPY5, Q80TS5, Q86UZ6, Q8BHZ4, Q8C208, Q8CCH7, Q8CIV7, Q8K0L9, Q8N1W2, Q8N895, Q8NCN2, Q8WW38, Q90W33, Q92610, Q96BR9, Q9BRP0, Q9BYN7

Diamond homologs: A0A1V6NWD3, A0A2H1A5W4, A1L2U9, B0XS89, B1WAZ8, B1WBU4, P53243, P56270, P56670, P56671, P78871, Q00453, Q0IH98, Q0VCJ6, Q12132, Q4WXK4, Q6P882, Q96BR9, Q99PV8, Q9C0K0, Q9CWH1, Q9H165, Q9QYE3, Q9UPG8, Q9US36, Q9UTS5, A2A884, A2ANX9, B0X0K1, B0X9H6, E9PZZ1, E9Q6W4, G5EBU4, O15090, O60315, O62836, O73694, O75362, O77459, P08048

SIGNOR signaling

3 interactions.

A	Effect	B	Mechanism
EP300	up-regulates	PLAGL2	acetylation
HDAC7	down-regulates	PLAGL2	deacetylation
PLAGL2	“up-regulates quantity by expression”	SFTPC	“transcriptional regulation”

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	58
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

364 predictions. Top by Δscore:

Variant	Effect	Δscore
20:32207640:CCGCG:C	donor_gain	1.0000
20:32202120:T:TA	donor_gain	0.9900
20:32207634:CACT:C	donor_loss	0.9900
20:32207636:CTCA:C	donor_loss	0.9900
20:32207637:TCACC:T	donor_loss	0.9900
20:32207638:CACC:C	donor_loss	0.9900
20:32207639:A:AC	donor_gain	0.9900
20:32207640:C:CT	donor_gain	0.9900
20:32207640:CCG:C	donor_gain	0.9900
20:32197678:TGTGC:T	acceptor_gain	0.9800
20:32207635:ACTC:A	donor_loss	0.9800
20:32207639:AC:A	donor_gain	0.9700
20:32207639:ACCG:A	donor_gain	0.9700
20:32207640:CC:C	donor_gain	0.9700
20:32207640:CCGC:C	donor_gain	0.9700
20:32197134:T:TA	donor_gain	0.9600
20:32197680:TGC:T	acceptor_gain	0.9600
20:32197683:C:CC	acceptor_gain	0.9600
20:32197689:G:C	acceptor_gain	0.9600
20:32197681:GCCTG:G	acceptor_loss	0.9500
20:32197683:C:A	acceptor_loss	0.9500
20:32197684:T:C	acceptor_loss	0.9500
20:32197702:A:C	acceptor_gain	0.9500
20:32197689:G:GC	acceptor_gain	0.9400
20:32202126:T:TA	donor_gain	0.9400
20:32197681:GC:G	acceptor_gain	0.9100
20:32197682:CC:C	acceptor_gain	0.9100
20:32197679:GTGC:G	acceptor_gain	0.9000
20:32197702:A:AC	acceptor_gain	0.8900
20:32201913:ACCT:A	donor_loss	0.8900

AlphaMissense

3236 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
20:32197232:A:C	H237Q	1.000
20:32197232:A:T	H237Q	1.000
20:32197234:G:C	H237D	1.000
20:32197242:A:G	L234P	1.000
20:32197259:A:C	F228L	1.000
20:32197259:A:T	F228L	1.000
20:32197261:A:G	F228L	1.000
20:32197271:A:C	C224W	1.000
20:32197272:C:T	C224Y	1.000
20:32197273:A:G	C224R	1.000
20:32197280:G:C	C221W	1.000
20:32197281:C:G	C221S	1.000
20:32197282:A:G	C221R	1.000
20:32197282:A:T	C221S	1.000
20:32197286:G:C	F219L	1.000
20:32197286:G:T	F219L	1.000
20:32197288:A:G	F219L	1.000
20:32197316:G:C	H209Q	1.000
20:32197316:G:T	H209Q	1.000
20:32197318:G:C	H209D	1.000
20:32197318:G:T	H209N	1.000
20:32197343:G:C	F200L	1.000
20:32197343:G:T	F200L	1.000
20:32197344:A:G	F200S	1.000
20:32197345:A:G	F200L	1.000
20:32197355:G:C	C196W	1.000
20:32197356:C:T	C196Y	1.000
20:32197357:A:G	C196R	1.000
20:32197365:C:T	C193Y	1.000
20:32197366:A:G	C193R	1.000

dbSNP variants (sampled 300 via entrez): RS1000815784 (20:32208817 CAG>C), RS1001055349 (20:32202757 G>A), RS1001070770 (20:32195493 A>C), RS1001365600 (20:32204185 C>G), RS1001528768 (20:32209635 A>T), RS1001606112 (20:32197397 T>C), RS1001743495 (20:32206003 G>A), RS1001804979 (20:32196903 G>A), RS1001863352 (20:32192288 G>C), RS1002336845 (20:32198951 G>A,T), RS1003070262 (20:32198652 A>G), RS1003420498 (20:32207096 G>A), RS1003734389 (20:32194019 G>A), RS1003891418 (20:32198198 C>G,T), RS1003915369 (20:32198930 T>G)

Disease associations

OMIM: gene MIM:604866 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST004131_132	Inflammatory bowel disease	6.000000e-06
GCST007611_4	Chronic obstructive pulmonary disease or high blood pressure (pleiotropy)	4.000000e-08

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, decreases expression, decreases methylation	5
trichostatin A	affects cotreatment, decreases expression	3
Benzo(a)pyrene	affects methylation, increases expression	2
Tobacco Smoke Pollution	increases expression	2
Aflatoxin B1	increases expression, decreases methylation	2
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	decreases expression	1
TAK-243	increases sumoylation	1
TL8-506	affects cotreatment, increases expression	1
dicrotophos	increases expression	1
methylmercuric chloride	decreases expression	1
arsenite	increases methylation	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
coumarin	decreases phosphorylation	1
beta-methylcholine	affects expression	1
CGP 52608	affects binding, increases reaction	1
K 7174	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
gardiquimod	increases expression, decreases reaction	1
PCI 5002	affects cotreatment, increases expression	1
Temozolomide	decreases expression	1
Sunitinib	increases expression	1
Arsenic Trioxide	increases expression	1
Leflunomide	decreases expression	1
Cadmium	decreases expression, increases abundance	1
Cisplatin	decreases expression	1
Dimethyl Sulfoxide	increases expression	1
Estradiol	increases expression	1
Lead	affects expression	1
Nickel	increases expression	1

Clinical trials (associated diseases)

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