PHC2

Summary

PHC2 (polyhomeotic homolog 2, HGNC:3183) is a protein-coding gene on chromosome 1p35.1, encoding Polyhomeotic-like protein 2 (Q8IXK0). 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.

In Drosophila melanogaster, the ‘Polycomb’ group (PcG) of genes are part of a cellular memory system that is responsible for the stable inheritance of gene activity. PcG proteins form a large multimeric, chromatin-associated protein complex. The protein encoded by this gene has homology to the Drosophila PcG protein ‘polyhomeotic’ (Ph) and is known to heterodimerize with EDR1 and colocalize with BMI1 in interphase nuclei of human cells. The specific function in human cells has not yet been determined. Two transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 1912 — RefSeq curated summary.

At a glance

• GWAS associations: 11
• Clinical variants (ClinVar): 123 total
• MANE Select transcript: NM_001385109

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:3183
Approved symbol	PHC2
Name	polyhomeotic homolog 2
Location	1p35.1
Locus type	gene with protein product
Status	Approved
Aliases	HPH2
Ensembl gene	ENSG00000134686
Ensembl biotype	protein_coding
OMIM	602979
Entrez	1912

Gene structure

Transcript identifiers

Ensembl transcripts: 14 — 8 protein_coding, 3 protein_coding_CDS_not_defined, 3 nonsense_mediated_decay

ENST00000257118, ENST00000373418, ENST00000373422, ENST00000431992, ENST00000459964, ENST00000467894, ENST00000468406, ENST00000473158, ENST00000485928, ENST00000486897, ENST00000493483, ENST00000683057, ENST00000706360, ENST00000881545

RefSeq mRNA: 10 — MANE Select: NM_001385109 NM_001330488, NM_001385109, NM_001385112, NM_001385119, NM_001385120, NM_001385121, NM_001385122, NM_001385123, NM_004427, NM_198040

CCDS: CCDS378, CCDS379, CCDS81298, CCDS90911, CCDS90912

Canonical transcript exons

ENST00000683057 — 15 exons

Exon	Start	End
ENSE00001677645	33354838	33355253
ENSE00001877128	33430976	33431095
ENSE00003461575	33371017	33371094
ENSE00003477625	33331348	33331462
ENSE00003505106	33372289	33372447
ENSE00003521588	33354401	33354566
ENSE00003595497	33332275	33332404
ENSE00003614189	33323626	33325019
ENSE00003636345	33375366	33375593
ENSE00003653119	33368536	33368622
ENSE00003653268	33328870	33329146
ENSE00003661357	33334090	33334292
ENSE00003674528	33330071	33330212
ENSE00003677896	33370421	33370585
ENSE00003683413	33367116	33367428

Expression profiles

Bgee: expression breadth ubiquitous, 291 present calls, max score 98.66.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 86.1450 / max 1292.1560, expressed in 1825 samples.

FANTOM5 promoters (11 alternative TSS)

Promoter ID	TPM avg	Samples expressed
11618	70.4695	1825
11616	10.6695	1765
11627	1.3978	599
11617	1.0073	679
11613	1.0068	628
11624	0.5697	307
11615	0.4523	183
11626	0.2657	129
11625	0.1898	80
11619	0.0905	22

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right lung	UBERON:0002167	98.66	gold quality
tibial artery	UBERON:0007610	98.17	gold quality
popliteal artery	UBERON:0002250	98.16	gold quality
mucosa of stomach	UBERON:0001199	98.08	gold quality
aorta	UBERON:0000947	97.92	gold quality
nerve	UBERON:0001021	97.86	gold quality
tibial nerve	UBERON:0001323	97.86	gold quality
metanephros cortex	UBERON:0010533	97.80	gold quality
lower esophagus muscularis layer	UBERON:0035833	97.79	gold quality
lower esophagus	UBERON:0013473	97.77	gold quality
ascending aorta	UBERON:0001496	97.74	gold quality
thoracic aorta	UBERON:0001515	97.74	gold quality
left coronary artery	UBERON:0001626	97.74	gold quality
ganglionic eminence	UBERON:0004023	97.71	gold quality
upper lobe of left lung	UBERON:0008952	97.61	gold quality
descending thoracic aorta	UBERON:0002345	97.60	gold quality
left uterine tube	UBERON:0001303	97.59	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	97.47	gold quality
muscle layer of sigmoid colon	UBERON:0035805	97.40	gold quality
blood	UBERON:0000178	97.37	gold quality
gastrocnemius	UBERON:0001388	97.32	gold quality
upper lobe of lung	UBERON:0008948	97.16	gold quality
apex of heart	UBERON:0002098	97.14	gold quality
coronary artery	UBERON:0001621	97.09	gold quality
endocervix	UBERON:0000458	97.08	gold quality
right atrium auricular region	UBERON:0006631	97.04	gold quality
body of uterus	UBERON:0009853	96.80	gold quality
right coronary artery	UBERON:0001625	96.78	gold quality
right lobe of thyroid gland	UBERON:0001119	96.77	gold quality
left lobe of thyroid gland	UBERON:0001120	96.76	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-MTAB-7303	no	427.59
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

100 targeting PHC2, 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-5193	100.00	67.26	1744
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-4673	100.00	66.64	1490
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-6870-5P	99.99	68.55	2115
HSA-MIR-10401-5P	99.99	65.79	948
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-4723-5P	99.97	68.70	2034
HSA-MIR-5698	99.97	68.49	2029
HSA-MIR-7111-5P	99.97	68.48	2062
HSA-MIR-2110	99.96	66.68	1930
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-4525	99.94	64.38	675
HSA-MIR-5010-5P	99.94	64.11	705
HSA-MIR-6835-3P	99.93	70.49	2904
HSA-MIR-4271	99.88	68.32	2244
HSA-MIR-6780A-5P	99.88	66.69	2776
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-765	99.84	68.24	2442
HSA-MIR-6756-5P	99.82	67.97	2466
HSA-MIR-205-5P	99.81	70.05	1557
HSA-MIR-7110-5P	99.80	67.84	1712
HSA-MIR-6817-3P	99.79	68.35	2126
HSA-MIR-3913-5P	99.78	67.26	968
HSA-MIR-1273H-5P	99.77	66.32	2471
HSA-MIR-11181-3P	99.75	66.38	2205
HSA-MIR-187-5P	99.74	70.26	1404
HSA-MIR-6752-3P	99.72	66.71	1587

Literature-anchored findings (GeneRIF, showing 4)

• Mutational inactivation of otd/Otx2 and unpg/Gbx2 result in the loss or misplacement of the brain-specific expression domains of Pax2/5/8 and Hox genes. (PMID:12702651)
• Single-Cell Transcriptomes Reveal Diverse Regulatory Strategies for Olfactory Receptor Expression and Axon Targeting. (PMID:32059767)
• these results propose a novel role of SIAH-1 in regulating the expression level of HPH2 through the ubiquitin-proteasome pathway. (PMID:20471960)
• Interaction of BMI1 with polyhomeotic protein PHC2 and homo-oligomerization via ubiquitin-like domain are necessary for H2A ubiquitination activity of PRC1 and for clonogenic potential of U2OS cells. (PMID:27827373)

Cross-species orthologs

7 orthologs

Organism	Symbol	Gene ID
mus_musculus	Phc2	ENSMUSG00000028796
rattus_norvegicus	Phc2	ENSRNOG00000006004
drosophila_melanogaster	l(3)mbt	FBGN0002441
drosophila_melanogaster	Scm	FBGN0003334
drosophila_melanogaster	Sfmbt	FBGN0032475
caenorhabditis_elegans	lin-61	WBGENE00003041
caenorhabditis_elegans	mbtr-1	WBGENE00021661

Paralogs (18): SCMH1 (ENSG00000010803), MBTD1 (ENSG00000011258), SCML1 (ENSG00000047634), L3MBTL2 (ENSG00000100395), SCML2 (ENSG00000102098), PHC1 (ENSG00000111752), THAP10 (ENSG00000129028), SAMD1 (ENSG00000141858), SCML4 (ENSG00000146285), L3MBTL4 (ENSG00000154655), SFMBT1 (ENSG00000163935), PHC3 (ENSG00000173889), L3MBTL1 (ENSG00000185513), SAMD7 (ENSG00000187033), SAMD11 (ENSG00000187634), SFMBT2 (ENSG00000198879), L3MBTL3 (ENSG00000198945), SAMD13 (ENSG00000203943)

Protein

Protein identifiers

Polyhomeotic-like protein 2 — Q8IXK0 (reviewed: Q8IXK0)

Alternative names: Early development regulatory protein 2

All UniProt accessions (5): A0A0A0MSI2, A0A8I5KPD5, A0A8I5KY19, A0A994J5J9, Q8IXK0

UniProt curated annotations — full annotation on UniProt →

Function. 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.

Subunit / interactions. Component of a PRC1-like complex. Interacts with CBX4. Interacts with BMI1, PCGF2, PHC1 and RNF2. Interacts with CHTOP. Interacts with the N-terminal region of the SP1 transcription factor and with MAPKAPK2. Interacts with SAMD7 and SAMD11.

Subcellular location. Nucleus.

Domain organisation. HD1 motif interacts with SAM domain of PHC1.

Miscellaneous. The hPRC-H complex purification reported by PubMed:12167701 probably presents a mixture of different PRC1-like complexes.

Isoforms (5)

UniProt ID	Names	Canonical?
Q8IXK0-1	1	yes
Q8IXK0-2	2, isoform b
Q8IXK0-3	3
Q8IXK0-4	4
Q8IXK0-5	5

RefSeq proteins (10): NP_001317417, NP_001372038, NP_001372041, NP_001372048, NP_001372049, NP_001372050, NP_001372051, NP_001372052, NP_004418, NP_932157 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001660	SAM	Domain
IPR012313	Znf_FCS	Domain
IPR013761	SAM/pointed_sf	Homologous_superfamily
IPR038603	Znf_FCS_sf	Homologous_superfamily
IPR050548	PcG_chromatin_remod_factors	Family

Pfam: PF00536, PF16616, PF21319

UniProt features (44 total): region of interest 9, compositionally biased region 7, splice variant 7, cross-link 5, binding site 4, modified residue 3, sequence conflict 3, sequence variant 2, chain 1, domain 1, short sequence motif 1, zinc finger region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8IXK0-F1	51.29	0.12

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Ligand- & substrate-binding residues (4): 642; 645; 661; 665

Post-translational modifications (8): 619, 621, 751, 598, 600, 632, 702, 847

Function

Pathways and Gene Ontology

Reactome pathways

9 pathways

ID	Pathway
R-HSA-2559580	Oxidative Stress Induced Senescence
R-HSA-3108214	SUMOylation of DNA damage response and repair proteins
R-HSA-3899300	SUMOylation of transcription cofactors
R-HSA-4551638	SUMOylation of chromatin organization proteins
R-HSA-4570464	SUMOylation of RNA binding proteins
R-HSA-4655427	SUMOylation of DNA methylation proteins
R-HSA-8939243	RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known
R-HSA-8943724	Regulation of PTEN gene transcription
R-HSA-9976102	Differentiation of naive CD4+ T cells to T helper 2 cells (Th2 cells)

MSigDB gene sets: 236 (showing top): XU_GH1_AUTOCRINE_TARGETS_UP, TTCCGTT_MIR191, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, MAZ_Q6, THEILGAARD_NEUTROPHIL_AT_SKIN_WOUND_DN, GOBP_MALE_GAMETE_GENERATION, AAAYRNCTG_UNKNOWN, GOBP_NEGATIVE_REGULATION_OF_GENE_EXPRESSION_EPIGENETIC, CDP_01, FOSTER_TOLERANT_MACROPHAGE_UP, BLALOCK_ALZHEIMERS_DISEASE_UP, GATA6_01, ACATTCC_MIR1_MIR206, GENTILE_UV_HIGH_DOSE_DN, AACTTT_UNKNOWN

GO Biological Process (2): spermatogenesis (GO:0007283), negative regulation of DNA-templated transcription (GO:0045892)

GO Molecular Function (7): DNA binding (GO:0003677), chromatin binding (GO:0003682), zinc ion binding (GO:0008270), histone binding (GO:0042393), identical protein binding (GO:0042802), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (5): heterochromatin (GO:0000792), nucleus (GO:0005634), nucleoplasm (GO:0005654), PcG protein complex (GO:0031519), PRC1 complex (GO:0035102)

Reactome top-level categories

Rollup of top-5 pathways:

Category	Pathways
SUMO E3 ligases SUMOylate target proteins	5
Cellular Senescence	1
Transcriptional regulation by RUNX1	1
PTEN Regulation	1
Differentiation of T cells	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	2
protein binding	2
developmental process involved in reproduction	1
male gamete generation	1
DNA-templated transcription	1
regulation of DNA-templated transcription	1
negative regulation of RNA biosynthetic process	1
nucleic acid binding	1
transition metal ion binding	1
cation binding	1
chromatin	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

766 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PHC2	BMI1	P35226	964
PHC2	CBX2	Q14781	963
PHC2	CBX8	Q9HC52	944
PHC2	R4GMX3	R4GMX3	937
PHC2	RING1	Q06587	936
PHC2	PCGF2	P35227	918
PHC2	RNF2	Q99496	843
PHC2	PHC1	P78364	787
PHC2	CBX4	O00257	753
PHC2	CBX7	O95931	746
PHC2	CBX6	O95503	718
PHC2	PCGF6	Q9BYE7	679
PHC2	TTK	P33981	611
PHC2	EED	O75530	608
PHC2	SUZ12	Q15022	596

IntAct

270 interactions, top by confidence:

A	B	Type	Score
CBX8	BMI1	psi-mi:“MI:0914”(association)	0.970
RING1	BMI1	psi-mi:“MI:0914”(association)	0.960
CBX7	BMI1	psi-mi:“MI:0914”(association)	0.940
BMI1	CBX4	psi-mi:“MI:0914”(association)	0.900
PCGF2	PHC2	psi-mi:“MI:0915”(physical association)	0.890
PHC2	PCGF2	psi-mi:“MI:0915”(physical association)	0.890
PCGF2	PHC2	psi-mi:“MI:0914”(association)	0.890
PHC2	BMI1	psi-mi:“MI:0915”(physical association)	0.880
BMI1	PHC2	psi-mi:“MI:0915”(physical association)	0.880
PHC2	CBX8	psi-mi:“MI:0915”(physical association)	0.840
CBX8	PHC2	psi-mi:“MI:0915”(physical association)	0.840
PCGF2	CBX4	psi-mi:“MI:0914”(association)	0.840
PHC2	SIAH1	psi-mi:“MI:0915”(physical association)	0.740
RING1	CBX4	psi-mi:“MI:0914”(association)	0.730
RNF2	E2F6	psi-mi:“MI:0914”(association)	0.730
PHC2	LMO2	psi-mi:“MI:0915”(physical association)	0.670
BYSL	PHC2	psi-mi:“MI:0915”(physical association)	0.670
PHC2	BYSL	psi-mi:“MI:0915”(physical association)	0.670
PHC2	L3MBTL3	psi-mi:“MI:0915”(physical association)	0.670
PHC2	SFMBT1	psi-mi:“MI:0915”(physical association)	0.670
PPP1R16B	PHC2	psi-mi:“MI:0915”(physical association)	0.670
ENKD1	PHC2	psi-mi:“MI:0915”(physical association)	0.670
PHC2	DRG1	psi-mi:“MI:0915”(physical association)	0.670

BioGRID (306): PHC2 (Two-hybrid), PHC2 (Two-hybrid), PHC2 (Two-hybrid), KIFC3 (Two-hybrid), LMO1 (Two-hybrid), LMO2 (Two-hybrid), SMAD3 (Two-hybrid), MFAP1 (Two-hybrid), DRG1 (Two-hybrid), POLR2L (Two-hybrid), PRKAA1 (Two-hybrid), SDCBP (Two-hybrid), SIAH1 (Two-hybrid), PCGF2 (Two-hybrid), AP1M1 (Two-hybrid)

ESM2 similar proteins: A0A087WPF7, A0A0R4IBL7, O09000, O54972, O70305, O75081, O75376, P15806, P15881, P15884, P15923, P21677, P30985, P51514, P98180, Q05AQ8, Q14157, Q14687, Q1LY51, Q2VPM4, Q3U3C9, Q4KKX4, Q4VCS5, Q566L4, Q5F3B1, Q5SFM8, Q5T6F2, Q60722, Q60974, Q61286, Q62655, Q6DIH5, Q7ZWN6, Q7ZXS3, Q80X50, Q86YP4, Q8BZ47, Q8CHY6, Q8IXK0, Q8VHG2

Diamond homologs: A2A5N8, B1B1A0, D3YUG0, D3YXK1, D3ZWK4, E1C2V1, O02274, O60284, O95251, P39769, P59178, P70047, P70475, P78364, P97500, Q01538, Q05BQ5, Q1JQD9, Q1RNF8, Q29L50, Q32N90, Q3MIF2, Q4V7W5, Q5DTW2, Q5R737, Q5SVQ0, Q5VUG0, Q5VXD3, Q64028, Q6DIN3, Q6P5G3, Q6SPE9, Q6SPF0, Q7Z3H4, Q80TY4, Q810T5, Q8BLB7, Q8C8Y5, Q8CFC2, Q8CHP6

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
PHC2	“form complex”	“Polycomb repressive complex 1”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 86 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	8	97.7×	2e-12
RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known	9	49.2×	3e-11
SUMOylation of transcription cofactors	7	30.9×	4e-07
SUMOylation of RNA binding proteins	7	30.3×	4e-07
Transcriptional Regulation by E2F6	5	26.6×	6e-05
Regulation of PTEN gene transcription	7	22.7×	2e-06
SUMOylation of chromatin organization proteins	7	20.2×	4e-06
SUMOylation of DNA damage response and repair proteins	7	18.6×	5e-06

GO biological processes:

GO term	Partners	Fold	FDR
chromatin organization	7	9.5×	3e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	95
Likely benign	6
Benign	4

Top pathogenic / likely-pathogenic (0)

SpliceAI

3047 predictions. Top by Δscore:

Variant	Effect	Δscore
1:33328864:CCTTA:C	donor_loss	1.0000
1:33328865:CTTAC:C	donor_loss	1.0000
1:33328866:TTA:T	donor_loss	1.0000
1:33328867:TA:T	donor_loss	1.0000
1:33328868:ACCT:A	donor_loss	1.0000
1:33328869:CCTGG:C	donor_gain	1.0000
1:33329008:G:T	acceptor_gain	1.0000
1:33330065:TCTTA:T	donor_loss	1.0000
1:33330066:CTTA:C	donor_loss	1.0000
1:33330067:TTAC:T	donor_loss	1.0000
1:33330068:TA:T	donor_loss	1.0000
1:33330069:A:AC	donor_gain	1.0000
1:33330070:C:CA	donor_loss	1.0000
1:33330070:C:CC	donor_gain	1.0000
1:33330070:CCTG:C	donor_gain	1.0000
1:33330213:CTTCA:C	acceptor_loss	1.0000
1:33330214:T:G	acceptor_loss	1.0000
1:33330216:C:CT	acceptor_gain	1.0000
1:33331343:CTCA:C	donor_loss	1.0000
1:33331344:TCA:T	donor_loss	1.0000
1:33331345:CA:C	donor_loss	1.0000
1:33331347:C:CA	donor_loss	1.0000
1:33331347:CCT:C	donor_gain	1.0000
1:33331463:C:CC	acceptor_gain	1.0000
1:33331472:A:C	acceptor_gain	1.0000
1:33332270:CCCA:C	donor_loss	1.0000
1:33332271:CCAC:C	donor_loss	1.0000
1:33332272:CACC:C	donor_loss	1.0000
1:33332273:A:AC	donor_gain	1.0000
1:33332274:C:CC	donor_gain	1.0000

AlphaMissense

5563 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:33324878:A:G	L855P	1.000
1:33324899:A:C	I848S	1.000
1:33324899:A:T	I848N	1.000
1:33324901:C:A	K847N	1.000
1:33324901:C:G	K847N	1.000
1:33324903:T:C	K847E	1.000
1:33324905:A:G	L846P	1.000
1:33324905:A:T	L846Q	1.000
1:33324908:G:T	A845D	1.000
1:33324909:C:G	A845P	1.000
1:33324911:G:T	P844H	1.000
1:33324912:G:A	P844S	1.000
1:33324914:C:T	G843E	1.000
1:33324915:C:A	G843W	1.000
1:33324915:C:G	G843R	1.000
1:33324915:C:T	G843R	1.000
1:33324917:A:G	L842P	1.000
1:33324917:A:T	L842Q	1.000
1:33324919:C:A	K841N	1.000
1:33324919:C:G	K841N	1.000
1:33324921:T:C	K841E	1.000
1:33324941:A:C	L834R	1.000
1:33324941:A:G	L834P	1.000
1:33324941:A:T	L834Q	1.000
1:33324956:A:C	L829R	1.000
1:33324956:A:G	L829P	1.000
1:33324956:A:T	L829H	1.000
1:33324959:A:G	L828P	1.000
1:33324962:A:G	L827P	1.000
1:33324965:A:G	L826P	1.000

dbSNP variants (sampled 300 via entrez): RS1000021276 (1:33330841 C>T), RS1000034975 (1:33324358 A>C), RS1000074697 (1:33375287 C>T), RS1000086727 (1:33324102 G>A), RS1000103987 (1:33333162 T>G), RS1000128016 (1:33374953 G>T), RS1000149014 (1:33362489 G>A), RS1000175187 (1:33336480 A>C), RS1000195354 (1:33413111 C>T), RS1000205442 (1:33379948 C>G), RS1000227414 (1:33336228 G>A), RS1000259305 (1:33369213 C>T), RS1000290956 (1:33367498 A>C), RS1000293869 (1:33330272 A>C), RS1000332941 (1:33356293 A>T)

Disease associations

OMIM: gene MIM:602979 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

11 associations (top):

Study	Trait	p-value
GCST005986_1	Blood urea nitrogen levels	9.000000e-09
GCST006586_42	Urinary albumin excretion	9.000000e-11
GCST006629_46	Pulse pressure	5.000000e-10
GCST007323_7	Risk-taking tendency (4-domain principal component model)	5.000000e-09
GCST007324_45	Adventurousness	4.000000e-08
GCST007325_298	General risk tolerance (MTAG)	6.000000e-16
GCST007327_176	Smoking status (ever vs never smokers)	1.000000e-12
GCST008062_17	Blood urea nitrogen levels	7.000000e-11
GCST009640_2	Urinary albumin-to-creatinine ratio	4.000000e-09
GCST90000025_912	Appendicular lean mass	6.000000e-17
GCST90016669_10	Pancreas volume	3.000000e-08

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0004285	albuminuria
EFO:0005763	pulse pressure measurement
EFO:0008579	risk-taking behaviour
EFO:0004318	smoking behavior
EFO:0007778	urinary albumin to creatinine ratio
EFO:0004980	appendicular lean mass

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, decreases expression, affects expression	6
entinostat	decreases expression, affects cotreatment	2
Tobacco Smoke Pollution	decreases expression, increases expression	2
FR900359	affects phosphorylation	1
bisphenol F	affects cotreatment, decreases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	affects expression	1
trichostatin A	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
sodium arsenite	decreases expression	1
aflatoxin B2	decreases methylation	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	increases expression	1
CGP 52608	affects binding, increases reaction	1
K 7174	increases 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
dorsomorphin	decreases expression, affects cotreatment	1
Temozolomide	affects response to substance	1
Sunitinib	increases expression	1
Norethindrone Acetate	affects cotreatment, increases expression	1
Acetaminophen	decreases expression	1
Air Pollutants	affects expression, increases abundance	1
Arsenic	affects methylation	1
Benzo(a)pyrene	decreases methylation	1
Carmustine	affects response to substance	1
Dexamethasone	affects cotreatment, decreases expression	1
Doxorubicin	increases expression	1
Estradiol	affects cotreatment, increases expression	1
Formaldehyde	decreases expression	1

Clinical trials (associated diseases)

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