PCGF6

Summary

PCGF6 (polycomb group ring finger 6, HGNC:21156) is a protein-coding gene on chromosome 10q24.33, encoding Polycomb group RING finger protein 6 (Q9BYE7). Transcriptional repressor.

The protein encoded by this gene contains a RING finger motif, which is most closely related to those of polycomb group (PcG) proteins RNF110/MEL-18 and BMI1. PcG proteins are known to form protein complexes and function as transcription repressors. This protein has been shown to interact with some PcG proteins and act as a transcription repressor. The activity of this protein is found to be regulated by cell cycle dependent phosphorylation. Alternatively spliced transcript variants encoding different isoforms have been identified.

Source: NCBI Gene 84108 — RefSeq curated summary.

At a glance

• GWAS associations: 6
• Clinical variants (ClinVar): 60 total
• MANE Select transcript: NM_001011663

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:21156
Approved symbol	PCGF6
Name	polycomb group ring finger 6
Location	10q24.33
Locus type	gene with protein product
Status	Approved
Aliases	MBLR
Ensembl gene	ENSG00000156374
Ensembl biotype	protein_coding
OMIM	607816
Entrez	84108

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 5 protein_coding, 1 protein_coding_CDS_not_defined, 1 retained_intron, 1 nonsense_mediated_decay

ENST00000337211, ENST00000369847, ENST00000490296, ENST00000492755, ENST00000647574, ENST00000873328, ENST00000917132, ENST00000970394

RefSeq mRNA: 2 — MANE Select: NM_001011663 NM_001011663, NM_032154

CCDS: CCDS31275, CCDS7546

Canonical transcript exons

ENST00000369847 — 10 exons

Exon	Start	End
ENSE00001192255	103350707	103351140
ENSE00001281792	103302796	103303961
ENSE00001281861	103347238	103347297
ENSE00003486860	103314186	103314272
ENSE00003487442	103345024	103345132
ENSE00003492085	103333925	103333952
ENSE00003497812	103347395	103347450
ENSE00003513780	103348716	103348812
ENSE00003590449	103348900	103348999
ENSE00003616258	103326534	103326632

Expression profiles

Bgee: expression breadth ubiquitous, 134 present calls, max score 88.01.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 12.7406 / max 105.2971, expressed in 1783 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
111222	9.7225	1745
111223	2.5352	1363
111221	0.4830	264

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	88.01	gold quality
ventricular zone	UBERON:0003053	82.96	gold quality
gastrocnemius	UBERON:0001388	82.78	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	82.48	gold quality
muscle of leg	UBERON:0001383	82.32	gold quality
skeletal muscle tissue	UBERON:0001134	82.20	gold quality
stromal cell of endometrium	CL:0002255	81.34	gold quality
muscle tissue	UBERON:0002385	80.99	gold quality
smooth muscle tissue	UBERON:0001135	80.96	gold quality
endometrium	UBERON:0001295	80.71	gold quality
ganglionic eminence	UBERON:0004023	80.26	gold quality
tibial artery	UBERON:0007610	79.52	gold quality
popliteal artery	UBERON:0002250	79.51	gold quality
muscle layer of sigmoid colon	UBERON:0035805	79.48	gold quality
hindlimb stylopod muscle	UBERON:0004252	79.46	gold quality
lower esophagus muscularis layer	UBERON:0035833	79.28	gold quality
lower esophagus	UBERON:0013473	79.26	gold quality
cortical plate	UBERON:0005343	78.80	gold quality
right lobe of liver	UBERON:0001114	78.77	gold quality
mucosa of stomach	UBERON:0001199	78.67	gold quality
myometrium	UBERON:0001296	78.61	gold quality
subcutaneous adipose tissue	UBERON:0002190	78.60	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	78.46	gold quality
calcaneal tendon	UBERON:0003701	78.43	gold quality
urinary bladder	UBERON:0001255	78.12	gold quality
adipose tissue	UBERON:0001013	77.90	gold quality
body of uterus	UBERON:0009853	77.89	gold quality
ectocervix	UBERON:0012249	77.83	gold quality
left coronary artery	UBERON:0001626	77.76	gold quality
descending thoracic aorta	UBERON:0002345	77.72	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	4.62

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

50 targeting PCGF6, 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-3163	100.00	77.23	8605
HSA-MIR-9-5P	100.00	72.28	2361
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-1236-3P	99.94	68.04	1695
HSA-MIR-10523-5P	99.91	69.22	2038
HSA-MIR-8063	99.91	69.76	3146
HSA-MIR-10527-5P	99.91	72.28	3754
HSA-MIR-3686	99.90	70.53	2432
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-4307	99.82	70.45	3374
HSA-MIR-4319	99.76	69.83	2586
HSA-MIR-4719	99.73	72.10	3329
HSA-MIR-33A-3P	99.70	70.27	3362
HSA-MIR-5093	99.67	69.26	2291
HSA-MIR-6762-3P	99.66	66.94	1188
HSA-MIR-298	99.63	67.56	1916
HSA-MIR-3120-3P	99.54	70.28	2669
HSA-MIR-409-3P	99.50	66.33	1192
HSA-MIR-203A-3P	99.49	70.56	2806
HSA-MIR-4735-5P	99.43	68.49	1780
HSA-MIR-889-5P	99.41	68.75	1025
HSA-MIR-513A-3P	99.39	70.63	3620
HSA-MIR-513C-3P	99.39	70.63	3620
HSA-MIR-377-3P	99.37	70.18	1905

Literature-anchored findings (GeneRIF, showing 7)

• regulation by cell cycle-dependent phosphorylation (PMID:12167161)
• Thus, we did not find evidence for uniquely interacting partner proteins using this approach, but did identify four new lamin A/C interactive partners (PMID:16248985)
• Study shows that JARID1d and MBLR occupy human Engrailed 2 gene and regulate its expression and histone H3 lysine 4 methylation levels. (PMID:17320162)
• MEL-18 bound to HSF2 inhibits its sumoylation by binding to and inhibiting the activity of UBC9 enzymes in the vicinity of HSF2. (PMID:18211895)
• Mel-18 overexpression showed reduced glycogen synthase kinase-3beta phosphorylation, beta-catenin nuclear localization, T-cell factor/lymphoid enhancer factor promoter activity, and cyclin D1 mRNA level (PMID:18519679)
• Pcgf6 acts as a master regulator to maintain embryonic stem cell identity. (PMID:27247273)
• PCGF6 controls neuroectoderm specification of human pluripotent stem cells by activating SOX2 expression. (PMID:35933409)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	pcgf6	ENSDARG00000069681
mus_musculus	Pcgf6	ENSMUSG00000025050
rattus_norvegicus	Pcgf6	ENSRNOG00000020250
rattus_norvegicus	Pcgf6l1	ENSRNOG00000033458
drosophila_melanogaster	Psc	FBGN0005624
drosophila_melanogaster	Su(z)2	FBGN0265623

Paralogs (7): PCGF1 (ENSG00000115289), RNF2 (ENSG00000121481), BMI1 (ENSG00000168283), PCGF5 (ENSG00000180628), PCGF3 (ENSG00000185619), RING1 (ENSG00000204227), PCGF2 (ENSG00000277258)

Protein

Protein identifiers

Polycomb group RING finger protein 6 — Q9BYE7 (reviewed: Q9BYE7)

Alternative names: Mel18 and Bmi1-like RING finger, RING finger protein 134

All UniProt accessions (2): Q9BYE7, A0A3B3ISZ4

UniProt curated annotations — full annotation on UniProt →

Function. Transcriptional repressor. May modulate the levels of histone H3K4Me3 by activating KDM5D histone demethylase. Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A ‘Lys-119’, rendering chromatin heritably changed in its expressibility. Within the PRC1-like complex, regulates RNF2 ubiquitin ligase activity.

Subunit / interactions. Component of a PRC1-like complex. Interacts with BMI1/PCGF4, RING1 and RNF2. Interacts with KDM5D. Interacts with CBX4, CBX6, CBX7 and CBX8.

Subcellular location. Nucleus.

Tissue specificity. Ubiquitous.

Post-translational modifications. Phosphorylated during mitosis. Phosphorylated on Ser-30 by CDK7 in vitro.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9BYE7-1	1	yes
Q9BYE7-3	3

RefSeq proteins (2): NP_001011663, NP_115530 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001841	Znf_RING	Domain
IPR013083	Znf_RING/FYVE/PHD	Homologous_superfamily
IPR017907	Znf_RING_CS	Conserved_site
IPR029071	Ubiquitin-like_domsf	Homologous_superfamily
IPR032443	RAWUL	Domain
IPR046979	PCGF6_RAWUL	Domain
IPR051507	PcG_RING_finger	Family

Pfam: PF13923, PF16207

UniProt features (26 total): mutagenesis site 4, compositionally biased region 4, cross-link 2, splice variant 2, sequence conflict 2, helix 2, turn 2, modified residue 2, chain 1, zinc finger region 1, sequence variant 1, region of interest 1, strand 1, coiled-coil region 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
2DJB	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BYE7-F1	73.32	0.40

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 (4): 223, 234, 30, 115

Mutagenesis-validated functional residues (4):

Position	Phenotype
30	abolishes phosphorylation.
57	does not abolish phosphorylation.
59	does not abolish phosphorylation.
69	does not abolish phosphorylation.

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-8953750	Transcriptional Regulation by E2F6

MSigDB gene sets: 111 (showing top): TGCGCANK_UNKNOWN, AACYNNNNTTCCS_UNKNOWN, GOBP_NEGATIVE_REGULATION_OF_GENE_EXPRESSION_EPIGENETIC, WANG_LMO4_TARGETS_DN, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM1, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN, GOCC_NUCLEAR_UBIQUITIN_LIGASE_COMPLEX, AML1_01, GOBP_CHROMATIN_REMODELING, GOBP_HETEROCHROMATIN_ORGANIZATION, GOBP_EPIGENETIC_REGULATION_OF_GENE_EXPRESSION, GOCC_TRANSFERASE_COMPLEX, GOCC_PCG_PROTEIN_COMPLEX, LIU_SOX4_TARGETS_DN, GOCC_PRC1_COMPLEX

GO Biological Process (4): negative regulation of transcription by RNA polymerase II (GO:0000122), chromatin remodeling (GO:0006338), regulation of transcription by RNA polymerase II (GO:0006357), negative regulation of DNA-templated transcription (GO:0045892)

GO Molecular Function (3): zinc ion binding (GO:0008270), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (4): nucleus (GO:0005634), nucleoplasm (GO:0005654), PcG protein complex (GO:0031519), PRC1 complex (GO:0035102)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Generic Transcription Pathway	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
transcription by RNA polymerase II	2
regulation of DNA-templated transcription	2
regulation of transcription by RNA polymerase II	1
negative regulation of DNA-templated transcription	1
chromatin organization	1
DNA-templated transcription	1
negative regulation of RNA biosynthetic process	1
transition metal ion binding	1
binding	1
cation binding	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
cellular anatomical structure	1
nuclear protein-containing complex	1
nuclear ubiquitin ligase complex	1
PcG protein complex	1

Protein interactions and networks

STRING

930 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PCGF6	RNF2	Q99496	997
PCGF6	RING1	Q06587	997
PCGF6	YAF2	Q8IY57	977
PCGF6	RYBP	Q8N488	954
PCGF6	L3MBTL2	Q969R5	924
PCGF6	E2F6	O75461	923
PCGF6	CBX3	Q13185	909
PCGF6	WDR5	P61964	872
PCGF6	KDM5D	Q9BY66	851
PCGF6	PHC1	P78364	826
PCGF6	R4GMX3	R4GMX3	823
PCGF6	BMI1	P35226	821
PCGF6	PCGF1	Q9BSM1	814
PCGF6	CBX2	Q14781	782
PCGF6	PCGF2	P35227	780

IntAct

122 interactions, top by confidence:

A	B	Type	Score
CBX8	BMI1	psi-mi:“MI:0914”(association)	0.970
CBX7	BMI1	psi-mi:“MI:0914”(association)	0.940
WDR5	KMT2D	psi-mi:“MI:0914”(association)	0.910
RYBP	CSNK2A2	psi-mi:“MI:0914”(association)	0.900
PCGF6	RNF2	psi-mi:“MI:0915”(physical association)	0.880
HDAC1	CDK2AP1	psi-mi:“MI:0914”(association)	0.840
PCGF6	CBX7	psi-mi:“MI:0407”(direct interaction)	0.780
CBX8	PCGF6	psi-mi:“MI:0407”(direct interaction)	0.780
PCGF6	RING1	psi-mi:“MI:0915”(physical association)	0.740
RYBP	E2F6	psi-mi:“MI:0914”(association)	0.740
E2F6	WDR5	psi-mi:“MI:0914”(association)	0.730
L3MBTL2	E2F6	psi-mi:“MI:0914”(association)	0.730
RING1	CBX4	psi-mi:“MI:0914”(association)	0.730
RNF2	E2F6	psi-mi:“MI:0914”(association)	0.730
MAX	E2F6	psi-mi:“MI:0914”(association)	0.710
WDR5	MEN1	psi-mi:“MI:0914”(association)	0.710
FOSB	JUN	psi-mi:“MI:0914”(association)	0.690
HSPB2	BAG3	psi-mi:“MI:0914”(association)	0.670
RNF2	CBX4	psi-mi:“MI:0914”(association)	0.660
PCGF6	CBX4	psi-mi:“MI:0914”(association)	0.640
YAF2	E2F6	psi-mi:“MI:0914”(association)	0.640

BioGRID (334): PCGF6 (Protein-peptide), PCGF6 (Affinity Capture-MS), PCGF6 (Affinity Capture-MS), PCGF6 (Affinity Capture-MS), PCGF6 (Affinity Capture-MS), PCGF6 (Affinity Capture-MS), PCGF6 (Affinity Capture-MS), CEP170B (Affinity Capture-MS), WDR76 (Affinity Capture-MS), ZKSCAN1 (Affinity Capture-MS), CEP78 (Affinity Capture-MS), RICTOR (Affinity Capture-MS), EFTUD1 (Affinity Capture-MS), APBB1 (Affinity Capture-MS), MGA (Affinity Capture-MS)

ESM2 similar proteins: A2AWP8, A2RRU4, A4Q9F4, A6QM06, O95267, P0C0T1, P21580, P97260, Q12770, Q13572, Q14161, Q14CM0, Q29RM4, Q2TBA3, Q3UGM2, Q496Y0, Q4R8W3, Q5MNU5, Q5R5M3, Q5T6S3, Q5XI70, Q60769, Q66H91, Q66T02, Q68FF6, Q69ZK0, Q6GQT6, Q6P9L4, Q6RFZ7, Q6ZPY2, Q6ZWH5, Q70CQ1, Q70EL4, Q70Z35, Q8BYN3, Q8HXH0, Q8NHH1, Q8TBP0, Q8TCU6, Q96GD3

Diamond homologs: A0JN86, B3DK16, P23798, P25916, P35226, P35227, Q07G17, Q0WX00, Q14527, Q1JPS1, Q28H21, Q2KJ29, Q2YDF9, Q32KX7, Q3KNV8, Q3UK78, Q4QR06, Q5R8L2, Q5SDR3, Q5XI70, Q640D5, Q6CJM4, Q6DLV9, Q7T3E6, Q7ZYZ7, Q86SE9, Q8BTQ0, Q8JIR0, Q8R023, Q91648, Q94AY3, Q99NA9, Q9BSM1, Q9BYE7, Q9FKW0, Q9LS86, Q9M9Y4, Q9TST0, O60106, Q19336

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
Ub:E2	“up-regulates activity”	PCGF6	ubiquitination
CDK7	unknown	PCGF6	phosphorylation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 121 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
SUMOylation of DNA methylation proteins	5	43.1×	4e-06
RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known	11	42.4×	3e-13
Transcriptional Regulation by E2F6	11	41.3×	3e-13
Differentiation of naive CD4+ T cells to T helper 2 cells (Th2 cells)	12	22.5×	2e-11
Regulation of PTEN gene transcription	9	20.6×	3e-08
Formation of WDR5-containing histone-modifying complexes	6	20.4×	2e-05
Transcriptional regulation by RUNX1	10	18.8×	1e-08
SUMOylation of chromatin organization proteins	8	16.3×	2e-06

GO biological processes:

GO term	Partners	Fold	FDR
negative regulation of proteasomal ubiquitin-dependent protein catabolic process	6	22.3×	3e-05
heterochromatin formation	6	14.2×	3e-04
chromatin remodeling	12	8.1×	5e-06
DNA damage response	13	6.4×	2e-05
chromatin organization	7	6.4×	6e-03
transcription by RNA polymerase II	9	5.9×	2e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	48
Likely benign	1
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

1182 predictions. Top by Δscore:

Variant	Effect	Δscore
10:103314181:CCTA:C	donor_loss	1.0000
10:103314182:CTA:C	donor_loss	1.0000
10:103314183:TAC:T	donor_loss	1.0000
10:103314185:C:CA	donor_loss	1.0000
10:103314269:CTAC:C	acceptor_gain	1.0000
10:103326530:GTA:G	donor_loss	1.0000
10:103326531:TACCT:T	donor_loss	1.0000
10:103326533:C:CA	donor_loss	1.0000
10:103326628:AATGG:A	acceptor_gain	1.0000
10:103326629:ATGG:A	acceptor_gain	1.0000
10:103326630:TGG:T	acceptor_gain	1.0000
10:103326630:TGGC:T	acceptor_loss	1.0000
10:103326631:GG:G	acceptor_gain	1.0000
10:103326631:GGCT:G	acceptor_loss	1.0000
10:103326633:C:CC	acceptor_gain	1.0000
10:103326633:CTACA:C	acceptor_loss	1.0000
10:103326636:C:CT	acceptor_gain	1.0000
10:103326637:A:T	acceptor_gain	1.0000
10:103345022:A:AC	donor_gain	1.0000
10:103345022:AC:A	donor_gain	1.0000
10:103345023:C:CC	donor_gain	1.0000
10:103345023:CC:C	donor_gain	1.0000
10:103345130:CAG:C	acceptor_gain	1.0000
10:103345133:C:CC	acceptor_gain	1.0000
10:103345137:T:C	acceptor_gain	1.0000
10:103347231:AACTT:A	donor_loss	1.0000
10:103347232:ACTT:A	donor_loss	1.0000
10:103347233:CTTAC:C	donor_loss	1.0000
10:103347234:TTAC:T	donor_loss	1.0000
10:103347235:T:TG	donor_loss	1.0000

AlphaMissense

2267 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
10:103326613:A:T	V277D	1.000
10:103326615:A:C	F276L	1.000
10:103326615:A:T	F276L	1.000
10:103326617:A:G	F276L	1.000
10:103347272:G:C	F213L	1.000
10:103347272:G:T	F213L	1.000
10:103347273:A:G	F213S	1.000
10:103347274:A:G	F213L	1.000
10:103347432:T:A	Q192H	1.000
10:103347432:T:G	Q192H	1.000
10:103347433:T:G	Q192P	1.000
10:103347444:G:C	D188E	1.000
10:103347444:G:T	D188E	1.000
10:103347445:T:A	D188V	1.000
10:103347445:T:C	D188G	1.000
10:103347445:T:G	D188A	1.000
10:103347446:C:G	D188H	1.000
10:103348719:A:C	I185R	1.000
10:103348719:A:T	I185K	1.000
10:103348731:G:T	P181H	1.000
10:103348732:G:A	P181S	1.000
10:103348742:A:C	H177Q	1.000
10:103348742:A:T	H177Q	1.000
10:103348744:G:C	H177D	1.000
10:103348746:A:T	V176E	1.000
10:103348757:G:C	C172W	1.000
10:103348758:C:A	C172F	1.000
10:103348758:C:G	C172S	1.000
10:103348758:C:T	C172Y	1.000
10:103348759:A:G	C172R	1.000

dbSNP variants (sampled 300 via entrez): RS1000075044 (10:103306156 G>A), RS1000113339 (10:103343982 C>T), RS1000141326 (10:103344342 G>C), RS1000145571 (10:103346252 G>A,C), RS1000218133 (10:103309075 G>A), RS1000234389 (10:103340040 G>A), RS1000249084 (10:103308800 G>C), RS1000277723 (10:103337499 C>A,T), RS1000396346 (10:103321509 C>G,T), RS1000431230 (10:103314910 A>G), RS1000538912 (10:103326401 A>C,G), RS1000546262 (10:103315426 C>T), RS1000638875 (10:103332838 G>C), RS1000660261 (10:103332981 G>T), RS1000716884 (10:103332791 C>A)

Disease associations

OMIM: gene MIM:607816 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

6 associations (top):

Study	Trait	p-value
GCST002149_2	Schizophrenia	4.000000e-13
GCST002539_4	Schizophrenia	6.000000e-19
GCST004521_172	Autism spectrum disorder or schizophrenia	4.000000e-14
GCST006803_4	Schizophrenia	7.000000e-18
GCST008361_2	Response to cognitive-behavioural therapy in major depressive disorder	2.000000e-06
GCST010703_271	Brain morphology (MOSTest)	5.000000e-13

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0007820	cognitive behavioural therapy
EFO:0004346	neuroimaging measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

16 total (human), top 16 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
FR900359	increases phosphorylation	1
dicrotophos	decreases expression	1
triphenyl phosphate	affects expression	1
sodium arsenite	increases expression	1
coumarin	decreases phosphorylation	1
di-n-butylphosphoric acid	affects expression	1
ICG 001	increases expression	1
NSC668394	increases expression	1
Arbutin	increases expression	1
Cisplatin	increases expression	1
Gold	decreases expression	1
Methyl Methanesulfonate	increases expression	1
Quercetin	increases phosphorylation	1
Silicon Dioxide	increases expression	1
Tretinoin	decreases expression	1
Antirheumatic Agents	increases expression	1

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_E2GB	HAP1 PCGF6 (-) 1	Cancer cell line	Male
CVCL_E2GC	HAP1 PCGF6 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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