PEG3

Summary

PEG3 (paternally expressed 3, HGNC:8826) is a protein-coding gene on chromosome 19q13.43, encoding Paternally-expressed gene 3 protein (Q9GZU2). Induces apoptosis in cooperation with SIAH1A.

In human, ZIM2 and PEG3 are treated as two distinct genes though they share multiple 5’ exons and a common promoter and both genes are paternally expressed (PMID:15203203). Alternative splicing events connect their shared 5’ exons either with the remaining 4 exons unique to ZIM2, or with the remaining 2 exons unique to PEG3. In contrast, in other mammals ZIM2 does not undergo imprinting and, in mouse, cow, and likely other mammals as well, the ZIM2 and PEG3 genes do not share exons. Human PEG3 protein belongs to the Kruppel C2H2-type zinc finger protein family. PEG3 may play a role in cell proliferation and p53-mediated apoptosis. PEG3 has also shown tumor suppressor activity and tumorigenesis in glioma and ovarian cells. Alternative splicing of this PEG3 gene results in multiple transcript variants encoding distinct isoforms.

Source: NCBI Gene 5178 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 270 total
• Cancer driver (intOGen): loss-of-function (tumor-suppressor-like) across 1 cancer types
• Dosage sensitivity (ClinGen): haploinsufficiency no evidence, triplosensitivity no evidence
• Transcription factor: yes — 11 downstream targets (CollecTRI)
• MANE Select transcript: NM_006210

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:8826
Approved symbol	PEG3
Name	paternally expressed 3
Location	19q13.43
Locus type	gene with protein product
Status	Approved
Aliases	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24
Ensembl gene	ENSG00000198300
Ensembl biotype	protein_coding
OMIM	601483
Entrez	5178

Gene structure

Transcript identifiers

Ensembl transcripts: 18 — 17 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000326441, ENST00000593695, ENST00000594389, ENST00000598410, ENST00000599534, ENST00000599565, ENST00000599577, ENST00000600833, ENST00000647621, ENST00000647852, ENST00000648694, ENST00000649233, ENST00000649428, ENST00000649680, ENST00000649735, ENST00000649876, ENST00000650102, ENST00000650632

RefSeq mRNA: 27 — MANE Select: NM_006210 NM_001146184, NM_001146185, NM_001146187, NM_001369717, NM_001369718, NM_001369719, NM_001369720, NM_001369721, NM_001369722, NM_001369723, NM_001369724, NM_001369725, NM_001369726, NM_001369727, NM_001369728, NM_001369729, NM_001369730, NM_001369731, NM_001369732, NM_001369733, NM_001369734, NM_001369735, NM_001369736, NM_001369737, NM_001369738, NM_001369739, NM_006210

CCDS: CCDS12948, CCDS58684, CCDS58685, CCDS92696

Canonical transcript exons

ENST00000326441 — 10 exons

Exon	Start	End
ENSE00001177903	56840582	56840726
ENSE00001317680	56824262	56824741
ENSE00001370394	56823593	56823679
ENSE00001405753	56817746	56817835
ENSE00003490916	56836018	56836104
ENSE00003617271	56818600	56818702
ENSE00003622994	56821651	56821754
ENSE00003627643	56822753	56822836
ENSE00003691344	56826388	56826463
ENSE00003845431	56810082	56817579

Expression profiles

Bgee: expression breadth ubiquitous, 274 present calls, max score 99.92.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.6017 / max 217.0966, expressed in 176 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter ID	TPM avg	Samples expressed
182904	14.2231	329
182903	0.2082	115
182888	0.1270	19
182896	0.1006	61
182897	0.0893	38
182887	0.0358	19
182900	0.0211	10
182899	0.0196	9

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
endothelial cell	CL:0000115	99.92	gold quality
superior vestibular nucleus	UBERON:0007227	99.70	gold quality
lateral nuclear group of thalamus	UBERON:0002736	99.69	gold quality
Brodmann (1909) area 23	UBERON:0013554	99.68	gold quality
adrenal tissue	UBERON:0018303	99.58	gold quality
pons	UBERON:0000988	99.54	gold quality
choroid plexus epithelium	UBERON:0003911	99.47	gold quality
middle temporal gyrus	UBERON:0002771	99.41	gold quality
ventral tegmental area	UBERON:0002691	99.39	gold quality
lateral globus pallidus	UBERON:0002476	99.31	gold quality
medulla oblongata	UBERON:0001896	99.23	gold quality
dorsal motor nucleus of vagus nerve	UBERON:0002870	99.20	gold quality
substantia nigra pars compacta	UBERON:0001965	99.19	gold quality
cerebellar vermis	UBERON:0004720	99.10	gold quality
parietal lobe	UBERON:0001872	98.99	gold quality
entorhinal cortex	UBERON:0002728	98.95	gold quality
orbitofrontal cortex	UBERON:0004167	98.94	gold quality
postcentral gyrus	UBERON:0002581	98.92	gold quality
middle frontal gyrus	UBERON:0002702	98.87	gold quality
substantia nigra pars reticulata	UBERON:0001966	98.81	gold quality
dorsal plus ventral thalamus	UBERON:0001897	98.79	gold quality
frontal pole	UBERON:0002795	98.60	gold quality
Brodmann (1909) area 46	UBERON:0006483	98.60	gold quality
superior frontal gyrus	UBERON:0002661	98.59	gold quality
Brodmann (1909) area 10	UBERON:0013541	98.59	gold quality
CA1 field of hippocampus	UBERON:0003881	98.49	gold quality
sperm	CL:0000019	98.29	gold quality
male germ cell	CL:0000015	98.22	gold quality
globus pallidus	UBERON:0001875	98.13	gold quality
cartilage tissue	UBERON:0002418	98.02	gold quality

Single-cell (SCXA)

Detected in 7 experiment(s), a significant marker in 5.

Experiment	Marker?	Max mean expression
E-HCAD-23	yes	1068.21
E-GEOD-75140	yes	726.27
E-MTAB-6701	yes	129.28
E-GEOD-84465	yes	6.59
E-ANND-3	yes	3.77
E-MTAB-8381	no	391.97
E-GEOD-100618	no	100.15

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

11 targets.

Target	Regulation
BECN1
CD74
ERVW-4
IL24
MAP1LC3A
PEG3
PROM1
PSMD10
PTGDR
TP53	Activation
VEGFA	Activation

Upstream regulators (CollecTRI, top): E2F1, NFKB, PEG3, TP53, YY1

miRNA regulators (miRDB)

125 targeting PEG3, 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-4425	100.00	67.59	1049
HSA-MIR-4682	100.00	68.89	1258
HSA-MIR-432-3P	100.00	67.86	705
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-5193	100.00	67.26	1744
HSA-MIR-1193	100.00	65.93	529
HSA-MIR-188-3P	100.00	68.76	1240
HSA-MIR-450A-1-3P	100.00	69.33	1837
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-9-5P	100.00	72.28	2361
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-499A-5P	99.98	70.79	1323
HSA-MIR-3692-3P	99.98	70.27	2139
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-548AN	99.97	70.91	2817
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-141-3P	99.94	72.79	2421
HSA-MIR-200A-3P	99.94	72.68	2420
HSA-MIR-1236-3P	99.94	68.04	1695
HSA-MIR-552-5P	99.93	68.56	1583
HSA-MIR-3686	99.90	70.53	2432

Functional genomics

ClinGen dosage: haploinsufficiency 0 (no evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 24)

• PEG3 gene is imprinted, with preferential expression from the paternal allele in human placenta. (PMID:11331620)
• Peg3/Pw1 is a mediator between p53 and Bax in DNA damage-induced neuronal death (PMID:11943780)
• Loss of PEG3 expression may be a frequent event in gynecologic cancers. Given the known role of PEG3 in p53-mediated apoptosis, it is possible that PEG3 functions as a tumor suppressor. (PMID:16023706)
• Down-regulation of PEG3 due to loss of heterozygosity and promoter methylation is associated with ovarian cancers (PMID:18286529)
• abnormal regulation of PEG3 is associated with several glioma subtypes and that it plays an important role in tumorigenesis. (PMID:19367087)
• PEG3 imprinted domain of humans, cows, and mice contains differing numbers of differentially methylated regions (DMR), but the PEG3-CpG island is the only DMR that is conserved among these three species. (PMID:19397955)
• mammalian imprinting utilizes Peg3/Pw1 to co-opt the Wnt pathway, thereby regulating development and glioma growth (PMID:20064927)
• None of the folate cycle genotypes in the mother or infant were related to the methylation of IGF2, PEG3, or LINE-1. (PMID:23151531)
• Results show that a five percent increase in DNA methylation of PEG3 is associated with a 1.6-fold increase invasive cervical cancer (ICC) risk. (PMID:23418553)
• we have unveiled a mechanism for a secreted proteoglycan in inducing Peg3, a master regulator of macroautophagy in endothelial cells (PMID:23798385)
• The PEG3-SCAN domain appears to constitute an assembly block, enabling PEG3 homo- or heterodimerization to control gene expression in a combinatorial fashion. (PMID:23936039)
• Genetic translocations involving PEG3 gene is associated with mesenchymal hamartoma of the liver. (PMID:24120702)
• PW1/Peg3 function is essential for conferring proper mesoangioblast competence and it’s level in human mesoangioblasts may serve as a biomarker to identify donor populations for therapeutic application in muscular dystrophies. (PMID:25751651)
• A resident population of resident smooth muscle progenitor cells expressing PW1 was identified in pulmonary hypertension-associated vascular remodeling. (PMID:26838788)
• In the current study, the authors have identified three alternative promoters for mouse Peg3 and one alternative promoter for human PEG3. (PMID:27075691)
• Data indicate that a set of cis-regulatory motifs and corresponding trans factors that may be critical for the transcriptional regulation of the Peg3 (Paternally Expressed Gene 3) domain. (PMID:27104590)
• Peg3 transcriptionally modulates BECN1 activity. (PMID:28174297)
• Data suggest that PEG3 is required for TFEB induction and nuclear translocation in a VEGFR2- and AMPK-dependent manner for decorin/decorin receptor-evoked autophagy. (PEG3 = paternally expressed 3 protein; TFEB = transcription factor EB; VEGFR2 = vascular endothelial growth factor receptor-2; AMPK = AMP-activated protein kinase) (PMID:28798237)
• Peg3 expression levels anti-correlate with pluripotency and increase gradually upon ESC differentiation. Moreover, downregulation of Peg3 enhances the efficiency of reprogramming of differentiated cells towards pluripotency. (PMID:28852087)
• Soluble matrix-derived cues being transduced downstream of receptor engagement converge upon a newly-discovered nexus of autophagic machinery consisting of Peg3 for endothelial cell autophagy and mitostatin for tumor cell mitophagy. (PMID:29080840)
• PEG3 mutation is associated with elevated tumor mutation burden and poor prognosis in breast cancer. (PMID:32729618)
• HPV-CCDC106 integration alters local chromosome architecture and hijacks an enhancer by three-dimensional genome structure remodeling in cervical cancer. (PMID:33023834)
• miR-155-5p Promotes Cell Proliferation and Migration of Clear Cell Renal Cell Carcinoma by Targeting PEG3. (PMID:34192708)
• Epigenetic reactivation of PEG3 by EZH2 inhibitors suppresses renal clear cell carcinoma progress. (PMID:37001595)

Cross-species orthologs

11 orthologs

Organism	Symbol	Gene ID
danio_rerio	plagx	ENSDARG00000036855
danio_rerio	ovol1a	ENSDARG00000076472
danio_rerio	plagl2	ENSDARG00000076657
danio_rerio	ovol1b	ENSDARG00000078256
mus_musculus	Peg3	ENSMUSG00000002265
rattus_norvegicus	Peg3	ENSRNOG00000014791
drosophila_melanogaster	hb	FBGN0001180
drosophila_melanogaster	CG12391	FBGN0033581
caenorhabditis_elegans		WBGENE00001824
caenorhabditis_elegans		WBGENE00003033
caenorhabditis_elegans		WBGENE00012385

Paralogs (29): ZNF446 (ENSG00000083838), REST (ENSG00000084093), ZNF174 (ENSG00000103343), OVOL3 (ENSG00000105261), PLAGL1 (ENSG00000118495), ZSCAN18 (ENSG00000121413), ZNF576 (ENSG00000124444), OVOL2 (ENSG00000125850), PLAGL2 (ENSG00000126003), 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), ZSCAN5C (ENSG00000204532)

Protein

Protein identifiers

Paternally-expressed gene 3 protein — Q9GZU2 (reviewed: Q9GZU2)

Alternative names: Zinc finger and SCAN domain-containing protein 24

All UniProt accessions (6): A0A3B3IRU6, A0A3B3ISL2, A0A3B3ITJ6, Q9GZU2, M0QXG1, M0QZD4

UniProt curated annotations — full annotation on UniProt →

Function. Induces apoptosis in cooperation with SIAH1A. Acts as a mediator between p53/TP53 and BAX in a neuronal death pathway that is activated by DNA damage. Acts synergistically with TRAF2 and inhibits TNF induced apoptosis through activation of NF-kappa-B. Possesses a tumor suppressing activity in glioma cells.

Subunit / interactions. Homodimer. Interacts with SIAH1A and SIAH2. Interacts with TRAF2.

Subcellular location. Nucleus. Cytoplasm.

Tissue specificity. Brain, glial cells, astrocytes, embryo, placenta, testis, ovary and uterus. In the placenta it is found in the layer of villous cytotrophoblast cells while in the ovary it is found in the cells of the ovarian stroma including the thecal layers around the follicles. Expression is highly repressed in glioma cell lines.

Domain organisation. The SCAN domain enables PEG3 homo- or heterodimerization to control gene expression in a combinatorial fashion.

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

Isoforms (4)

UniProt ID	Names	Canonical?
Q9GZU2-1	1	yes
Q9GZU2-2	2
Q9GZU2-3	3
Q9GZU2-4	4

RefSeq proteins (27): NP_001139656, NP_001139657, NP_001139659, NP_001356646, NP_001356647, NP_001356648, NP_001356649, NP_001356650, NP_001356651, NP_001356652, NP_001356653, NP_001356654, NP_001356655, NP_001356656, NP_001356657, NP_001356658, NP_001356659, NP_001356660, NP_001356661, NP_001356662, NP_001356663, NP_001356664, NP_001356665, NP_001356666, NP_001356667, NP_001356668, NP_006201* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003309	SCAN_dom	Domain
IPR013087	Znf_C2H2_type	Domain
IPR036236	Znf_C2H2_sf	Homologous_superfamily
IPR038269	SCAN_sf	Homologous_superfamily
IPR050826	Krueppel_C2H2_ZnFinger	Family

Pfam: PF00096, PF02023

UniProt features (75 total): zinc finger region 12, compositionally biased region 11, region of interest 10, sequence variant 9, sequence conflict 9, repeat 7, helix 7, splice variant 6, turn 2, chain 1, domain 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
4BHX	X-RAY DIFFRACTION	1.95

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9GZU2-F1	44.68	0.01

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 202 (showing top): ATF_B, E2F_Q4_01, GCM_PTPRD, E2F4DP1_01, YAO_HOXA10_TARGETS_VIA_PROGESTERONE_UP, CREBP1_Q2, CERVERA_SDHB_TARGETS_1_DN, YAO_TEMPORAL_RESPONSE_TO_PROGESTERONE_CLUSTER_1, YY1_Q6, RODWELL_AGING_KIDNEY_NO_BLOOD_DN, MARTINEZ_RB1_TARGETS_UP, E2F1DP1_01, E2F_Q3, BACOLOD_RESISTANCE_TO_ALKYLATING_AGENTS_DN, E2F1DP2_01

GO Biological Process (5): negative regulation of transcription by RNA polymerase II (GO:0000122), regulation of transcription by RNA polymerase II (GO:0006357), apoptotic process (GO:0006915), regulation of gene expression (GO:0010468), positive regulation of transcription by RNA polymerase II (GO:0045944)

GO Molecular Function (4): RNA polymerase II transcription regulatory region sequence-specific DNA binding (GO:0000977), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), zinc ion binding (GO:0008270), metal ion binding (GO:0046872)

GO Cellular Component (3): nucleus (GO:0005634), autophagosome (GO:0005776), cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
regulation of transcription by RNA polymerase II	3
transcription by RNA polymerase II	3
negative regulation of DNA-templated transcription	1
regulation of DNA-templated transcription	1
programmed cell death	1
apoptotic signaling pathway	1
execution phase of apoptosis	1
gene expression	1
regulation of macromolecule biosynthetic process	1
positive regulation of DNA-templated transcription	1
transcription cis-regulatory region binding	1
chromatin	1
RNA polymerase II transcription regulatory region sequence-specific DNA binding	1
DNA-binding transcription factor activity	1
transition metal ion binding	1
cation binding	1
intracellular membrane-bounded organelle	1
vacuole	1
intracellular anatomical structure	1
cellular anatomical structure	1

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

16 interactions, top by confidence:

A	B	Type	Score
PEG3	USP7	psi-mi:“MI:0915”(physical association)	0.570
ZIM2	MDM2	psi-mi:“MI:0914”(association)	0.530
ALB	CNOT1	psi-mi:“MI:0914”(association)	0.350
ATG16L1	ESYT2	psi-mi:“MI:0914”(association)	0.350
	POLRMT	psi-mi:“MI:0914”(association)	0.350
	SUPT5H	psi-mi:“MI:0914”(association)	0.350
	GTPBP10	psi-mi:“MI:0914”(association)	0.350
	GTPBP1	psi-mi:“MI:0914”(association)	0.350
FBXO3	PIP5K1C	psi-mi:“MI:0914”(association)	0.350
TCEAL1		psi-mi:“MI:0914”(association)	0.350
APP	PEG3	psi-mi:“MI:0915”(physical association)	0.000
LIMS1	PEG3	psi-mi:“MI:0915”(physical association)	0.000
PEG3	USP7	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (17): PEG3 (Far Western), PEG3 (Affinity Capture-MS), PEG3 (Affinity Capture-MS), PEG3 (Two-hybrid), SIAH2 (Affinity Capture-Western), SIAH1 (Affinity Capture-Western), SIAH1 (Two-hybrid), SIAH2 (Two-hybrid), PEG3 (Affinity Capture-MS), PEG3 (Affinity Capture-MS), PEG3 (Two-hybrid), PEG3 (Affinity Capture-MS), PEG3 (Affinity Capture-Western), PEG3 (Two-hybrid), PEG3 (Two-hybrid)

ESM2 similar proteins: A0A0P0XCU3, A0A1P8BH59, A1YFC1, A1YGK6, A2T7F2, A6NJ88, B7SY83, F1QU13, F4HXQ7, F4ICX9, F4INW9, F4KCE9, O04251, O81472, O96001, P0CV01, P0CV36, P0CV42, P0CV43, P0CV45, P0CV46, P0CV55, P0CV57, P0CV58, P10322, P16531, P48786, Q0DVU4, Q10P83, Q2EI21, Q3URU2, Q5JY77, Q5QNA6, Q5R7U0, Q5SRN2, Q5U4C1, Q5XPK0, Q6K5K2, Q7T2B3, Q8N3K9

Diamond homologs: A1YEP8, A1YEQ3, A1YEV9, A1YFC1, A1YFW2, A1YFW6, A1YG26, A1YG48, A1YG60, A1YGJ4, A1YGK6, A2T6E3, A2T6V8, A2T6W2, A2T712, A2T736, A2T7D2, A2T7D7, A2T7F2, A2T7F4, A2T7L7, A2T812, A6QNZ0, A6QPT6, B2KFW1, O14709, O14771, O14978, O15535, O43309, O60304, O95125, P10073, P17022, P17028, P17029, P17040, P28698, P49910, P51815

SIGNOR signaling

0 interactions.

Disease & clinical

Cancer significance

From intOGen — cancer-driver classification: loss-of-function (tumor-suppressor-like) across 1 cancer types — PAAD.

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	206
Likely benign	42
Benign	19

Top pathogenic / likely-pathogenic (0)

SpliceAI

1911 predictions. Top by Δscore:

Variant	Effect	Δscore
19:56818594:GCTTA:G	donor_loss	1.0000
19:56818595:CTTA:C	donor_loss	1.0000
19:56818595:CTTAC:C	donor_loss	1.0000
19:56818596:TTACC:T	donor_loss	1.0000
19:56818597:TAC:T	donor_loss	1.0000
19:56818597:TACCG:T	donor_loss	1.0000
19:56818598:A:AC	donor_gain	1.0000
19:56818598:A:AG	donor_loss	1.0000
19:56818599:C:CC	donor_gain	1.0000
19:56818599:C:CG	donor_gain	1.0000
19:56818615:T:TA	donor_gain	1.0000
19:56818698:GCATC:G	acceptor_gain	1.0000
19:56818699:CATC:C	acceptor_gain	1.0000
19:56818699:CATCC:C	acceptor_gain	1.0000
19:56818700:ATC:A	acceptor_gain	1.0000
19:56818701:TC:T	acceptor_gain	1.0000
19:56818702:CC:C	acceptor_gain	1.0000
19:56818703:C:CA	acceptor_loss	1.0000
19:56818703:C:CC	acceptor_gain	1.0000
19:56818703:C:T	acceptor_gain	1.0000
19:56818704:T:C	acceptor_loss	1.0000
19:56818710:A:T	acceptor_gain	1.0000
19:56821645:GCATA:G	donor_loss	1.0000
19:56821646:CATA:C	donor_loss	1.0000
19:56821647:ATAC:A	donor_loss	1.0000
19:56821649:ACC:A	donor_loss	1.0000
19:56821650:C:CT	donor_loss	1.0000
19:56821650:CC:C	donor_loss	1.0000
19:56821752:TCCC:T	acceptor_loss	1.0000
19:56821755:CTGGG:C	acceptor_loss	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000036135 (19:56822269 C>G,T), RS1000479952 (19:56840974 GC>G,GCC), RS1000626973 (19:56838400 G>A), RS1000700651 (19:56838577 A>G,T), RS1000749753 (19:56809868 A>C), RS1000784500 (19:56832004 CAT>C), RS1000839110 (19:56832970 T>C), RS1000859980 (19:56826316 G>A), RS1000892475 (19:56826688 C>A,T), RS1001118468 (19:56821186 C>T), RS1001171167 (19:56828842 C>G), RS1001208437 (19:56822695 C>T), RS1001342992 (19:56830204 A>G,T), RS1001414029 (19:56826103 G>A), RS1001441142 (19:56829977 G>A)

Disease associations

OMIM: gene MIM:601483 | 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
GCST002830_31	Urate levels in lean individuals	6.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004531	urate measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	increases methylation, affects methylation, decreases expression, decreases methylation	3
Lead	affects expression, decreases methylation	2
Nickel	decreases expression	2
Valproic Acid	increases expression, increases methylation	2
FR900359	increases phosphorylation	1
dicrotophos	increases expression	1
bisphenol A	affects expression	1
methylselenic acid	affects expression	1
tris(2-butoxyethyl) phosphate	affects expression	1
zinc chloride	decreases expression	1
perfluorooctanoic acid	decreases expression	1
hydroquinone	decreases expression	1
nivalenol	decreases expression	1
CGP 52608	affects binding, increases reaction	1
K 7174	decreases expression	1
quinocetone	increases expression	1
mirdametinib	decreases expression	1
MRK 003	increases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Leflunomide	increases expression	1
Cadmium	increases abundance, decreases expression	1
Caffeine	affects phosphorylation	1
Doxorubicin	decreases expression	1
Formaldehyde	decreases expression	1
Naled	affects expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Rifampin	increases expression	1
Tetrachlorodibenzodioxin	decreases expression	1
Tunicamycin	increases expression	1
Zinc	decreases expression	1

Clinical trials (associated diseases)

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