ZNF644

Summary

ZNF644 (zinc finger protein 644, HGNC:29222) is a protein-coding gene on chromosome 1p22.2, encoding Zinc finger protein 644 (Q9H582). May be involved in transcriptional regulation.

The protein encoded by this gene is a zinc finger transcription factor that may play a role in eye development. Defects in this gene have been associated with high myopia. Three transcript variants encoding two different isoforms have been found for this gene.

Source: NCBI Gene 84146 — RefSeq curated summary.

At a glance

• Gene–disease (curated): myopia 21, autosomal dominant (Strong, GenCC)
• GWAS associations: 12
• Clinical variants (ClinVar): 221 total — 3 pathogenic
• Phenotypes (HPO): 3
• MANE Select transcript: NM_201269

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29222
Approved symbol	ZNF644
Name	zinc finger protein 644
Location	1p22.2
Locus type	gene with protein product
Status	Approved
Aliases	KIAA1221, BM-005, MGC60165, MGC70410
Ensembl gene	ENSG00000122482
Ensembl biotype	protein_coding
OMIM	614159
Entrez	84146

Gene structure

Transcript identifiers

Ensembl transcripts: 17 — 10 protein_coding, 7 protein_coding_CDS_not_defined

ENST00000337393, ENST00000347275, ENST00000361321, ENST00000370440, ENST00000467231, ENST00000474405, ENST00000479798, ENST00000482467, ENST00000482709, ENST00000495966, ENST00000498303, ENST00000892121, ENST00000892122, ENST00000892123, ENST00000912550, ENST00000912551, ENST00000953173

RefSeq mRNA: 3 — MANE Select: NM_201269 NM_016620, NM_032186, NM_201269

CCDS: CCDS731, CCDS732

Canonical transcript exons

ENST00000337393 — 6 exons

Exon	Start	End
ENSE00001518894	91021990	91022035
ENSE00003477129	90918052	90918154
ENSE00003485632	90982310	90982370
ENSE00003889217	90937485	90938090
ENSE00003889805	90938272	90941309
ENSE00003890567	90915304	90916990

Expression profiles

Bgee: expression breadth ubiquitous, 253 present calls, max score 97.45.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 26.1049 / max 296.0451, expressed in 1787 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter ID	TPM avg	Samples expressed
13227	16.7565	1745
13229	2.6068	991
13231	1.9224	771
13226	1.2598	788
13224	1.1851	459
13230	1.0931	580
13228	0.8748	544
13225	0.4062	215

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
calcaneal tendon	UBERON:0003701	97.45	gold quality
ventricular zone	UBERON:0003053	95.99	gold quality
ganglionic eminence	UBERON:0004023	95.79	gold quality
cortical plate	UBERON:0005343	95.47	gold quality
tibialis anterior	UBERON:0001385	94.07	gold quality
ileal mucosa	UBERON:0000331	94.01	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	93.53	gold quality
colonic epithelium	UBERON:0000397	93.43	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	93.37	gold quality
adrenal tissue	UBERON:0018303	93.33	gold quality
corpus callosum	UBERON:0002336	93.18	gold quality
bone marrow cell	CL:0002092	92.55	gold quality
epithelial cell of pancreas	CL:0000083	92.25	gold quality
deltoid	UBERON:0001476	92.14	gold quality
endothelial cell	CL:0000115	91.44	gold quality
sural nerve	UBERON:0015488	90.31	gold quality
mammary duct	UBERON:0001765	89.62	gold quality
epithelium of mammary gland	UBERON:0003244	89.60	gold quality
cauda epididymis	UBERON:0004360	89.55	gold quality
left ventricle myocardium	UBERON:0006566	89.47	silver quality
endometrium	UBERON:0001295	89.15	gold quality
lower lobe of lung	UBERON:0008949	89.11	gold quality
hindlimb stylopod muscle	UBERON:0004252	89.00	gold quality
Brodmann (1909) area 46	UBERON:0006483	88.95	gold quality
tibial nerve	UBERON:0001323	88.90	gold quality
mucosa of sigmoid colon	UBERON:0004993	88.90	gold quality
colonic mucosa	UBERON:0000317	88.68	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	88.61	gold quality
rectum	UBERON:0001052	88.52	gold quality
superficial temporal artery	UBERON:0001614	88.52	gold quality

Single-cell (SCXA)

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

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

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

158 targeting ZNF644, 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-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
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-340-5P	100.00	72.50	4437
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-3120-5P	100.00	65.56	965
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-LET-7A-5P	99.98	72.29	1790
HSA-LET-7B-5P	99.98	72.31	1790
HSA-LET-7C-5P	99.98	72.29	1790
HSA-LET-7E-5P	99.98	72.29	1790
HSA-LET-7F-5P	99.98	72.56	1784
HSA-LET-7G-5P	99.98	72.37	1784

Literature-anchored findings (GeneRIF, showing 7)

• ZNF644 might be a causal gene for high myopia in a monogenic form. (PMID:21695231)
• Two novel variants in ZNF644 are associated with high-grade myopia in a US cohort. (PMID:22539872)
• ZNF644 is associated with high myopia in a cohort from a Chinese population. (PMID:24991186)
• mutation in LRPAP1 is associated with high myopia. Further studies are expected to evaluate the pathogenicity of the variants in CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2. (PMID:25525168)
• Data indicate zinc finger proteins ZNF644 and WIZ as two core subunits in the histone-lysine N-methyltransferase G9a/GLP complex, and interact with the transcription activation domain of G9a and GLP. (PMID:25789554)
• Our data suggested that genetic variants in GRM6 are associated with high myopia. The mechanism of GRM6 in the development of high myopia need to be further investigated. (PMID:27034204)
• Downregulation of circ-ZNF644 alleviates LPS-induced HK2 cell injury via miR-335-5p/HIPK1 axis. (PMID:36052886)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	znf644a	ENSDARG00000101361
danio_rerio	znf644b	ENSDARG00000102025
mus_musculus	Zfp644	ENSMUSG00000049606
rattus_norvegicus	Zfp644	ENSRNOG00000002112

Paralogs (51): WIZ (ENSG00000011451), ZNF416 (ENSG00000083817), MYNN (ENSG00000085274), PRDM4 (ENSG00000110851), PRDM2 (ENSG00000116731), ZBTB17 (ENSG00000116809), GZF1 (ENSG00000125812), ZNF426 (ENSG00000130818), ZNF287 (ENSG00000141040), ZNF697 (ENSG00000143067), ZNF687 (ENSG00000143373), ZNF214 (ENSG00000149050), ZNF547 (ENSG00000152433), ZNF776 (ENSG00000152443), ZNF230 (ENSG00000159882), ZNF222 (ENSG00000159885), ZNF233 (ENSG00000159915), ZNF333 (ENSG00000160961), ZNF319 (ENSG00000166188), ZNF592 (ENSG00000166716), ZNF646 (ENSG00000167395), ZNF507 (ENSG00000168813), ZNF768 (ENSG00000169957), ZNF417 (ENSG00000173480), ZNF408 (ENSG00000175213), ZBTB41 (ENSG00000177888), ZNF223 (ENSG00000178386), ZNF852 (ENSG00000178917), ZNF784 (ENSG00000179922), ZNF572 (ENSG00000180938), ZNF707 (ENSG00000181135), ZNF746 (ENSG00000181220), ZNF467 (ENSG00000181444), ZNF530 (ENSG00000183647), ZNF17 (ENSG00000186272), ZNF527 (ENSG00000189164), ZKSCAN7 (ENSG00000196345), ZNF34 (ENSG00000196378), ZNF774 (ENSG00000196391), ZNF777 (ENSG00000196453)

Protein

Protein identifiers

Zinc finger protein 644 — Q9H582 (reviewed: Q9H582)

Alternative names: Zinc finger motif enhancer-binding protein 2

All UniProt accessions (1): Q9H582

UniProt curated annotations — full annotation on UniProt →

Function. May be involved in transcriptional regulation.

Subcellular location. Nucleus.

Tissue specificity. Expressed in liver, placenta, retina and retinal pigment epithelium.

Disease relevance. Myopia 21, autosomal dominant (MYP21) [MIM:614167] A refractive error of the eye, in which parallel rays from a distant object come to focus in front of the retina, vision being better for near objects than for far. The disease is caused by variants affecting the gene represented in this entry.

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

Isoforms (3)

UniProt ID	Names	Canonical?
Q9H582-1	1	yes
Q9H582-2	2
Q9H582-3	3

RefSeq proteins (3): NP_057704, NP_115562, NP_958357* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR013087	Znf_C2H2_type	Domain
IPR036236	Znf_C2H2_sf	Homologous_superfamily
IPR051643	Transcr_Reg_ZincFinger	Family
IPR055125	Wiz_C_Znf	Domain

Pfam: PF00096, PF23015

UniProt features (99 total): cross-link 56, sequence variant 21, zinc finger region 7, modified residue 5, splice variant 4, region of interest 2, sequence conflict 2, chain 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9H582-F1	46.24	0.01

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 (61): 199, 309, 820, 1000, 1189, 39, 82, 112, 168, 185, 193, 213, 263, 284, 294, 299, 319, 339, 344, 346 …

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 216 (showing top): E2F_Q4, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, WWTAAGGC_UNKNOWN, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, E2F4DP1_01, GCM_GSPT1, RORA1_01, ATACCTC_MIR202, MAZ_Q6, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, TGACCTY_ERR1_Q2, SRF_Q5_01, GGGCATT_MIR365, E2F1DP1_01

GO Biological Process (1): regulation of transcription by RNA polymerase II (GO:0006357)

GO Molecular Function (6): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), transcription corepressor binding (GO:0001222), zinc ion binding (GO:0008270), DNA binding (GO:0003677), 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
RNA polymerase II transcription regulatory region sequence-specific DNA binding	2
regulation of DNA-templated transcription	1
transcription by RNA polymerase II	1
cis-regulatory region sequence-specific DNA binding	1
chromatin	1
DNA-binding transcription factor activity	1
regulation of transcription by RNA polymerase II	1
transcription coregulator binding	1
transition metal ion binding	1
nucleic acid binding	1
cation binding	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

1588 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ZNF644	EHMT2	Q96KQ7	836
ZNF644	SLC39A5	Q6ZMH5	687
ZNF644	P3H2	Q8IVL5	670
ZNF644	LRPAP1	P30533	625
ZNF644	SCO2	O43819	584
ZNF644	WIZ	O95785	574
ZNF644	RLIG1	Q8N999	509
ZNF644	PRSS56	P0CW18	509
ZNF644	PRIMPOL	Q96LW4	506
ZNF644	GPRIN3	Q6ZVF9	505
ZNF644	CCDC24	Q8N4L8	500
ZNF644	CTSH	P09668	463
ZNF644	RNF169	Q8NCN4	459
ZNF644	ZC3H11B	A0A1B0GTU1	447
ZNF644	CDYL	Q9Y232	441

IntAct

138 interactions, top by confidence:

A	B	Type	Score
EHMT2	WIZ	psi-mi:“MI:0914”(association)	0.730
NFIC	NFIB	psi-mi:“MI:2364”(proximity)	0.690
CBX3	E2F6	psi-mi:“MI:0914”(association)	0.640
PCGF6	CBX4	psi-mi:“MI:0914”(association)	0.640
YY1	YY2	psi-mi:“MI:0914”(association)	0.570
CBX1	ZNF292	psi-mi:“MI:0914”(association)	0.530
CBX5	WIZ	psi-mi:“MI:0914”(association)	0.530
TRIM28	ZNF316	psi-mi:“MI:0914”(association)	0.530
FBL	ZNF316	psi-mi:“MI:0914”(association)	0.530
ZNF324B	ZNF316	psi-mi:“MI:0914”(association)	0.530
PPAN	PPM1G	psi-mi:“MI:0914”(association)	0.530
SUV39H1	MAGEC1	psi-mi:“MI:0914”(association)	0.530
XAGE2	WIZ	psi-mi:“MI:0914”(association)	0.530
ZNF462	WIZ	psi-mi:“MI:0914”(association)	0.530
ZNF223	CENPB	psi-mi:“MI:0914”(association)	0.530
MINDY3	UBB	psi-mi:“MI:0914”(association)	0.530
XAGE3	WIZ	psi-mi:“MI:0914”(association)	0.530
ETV7	NFIB	psi-mi:“MI:2364”(proximity)	0.470
H3C1	SMCHD1	psi-mi:“MI:2364”(proximity)	0.410
ZNF644	HNRNPR	psi-mi:“MI:0915”(physical association)	0.400
Mad2l2	CALU	psi-mi:“MI:0915”(physical association)	0.400
Cbx1		psi-mi:“MI:0914”(association)	0.350
WIZ	RPP30	psi-mi:“MI:0914”(association)	0.350
ZNF644	ATP9A	psi-mi:“MI:0914”(association)	0.350
Wiz	CLNS1A	psi-mi:“MI:0914”(association)	0.350
Max	PABPN1	psi-mi:“MI:0914”(association)	0.350

BioGRID (244): ZNF644 (Affinity Capture-RNA), ZNF644 (Affinity Capture-MS), ZNF644 (Affinity Capture-MS), ZNF644 (Affinity Capture-MS), ZNF644 (Affinity Capture-MS), ZNF644 (Affinity Capture-MS), ZNF644 (Affinity Capture-MS), ACVR1B (Affinity Capture-MS), CSPG4 (Affinity Capture-MS), ZMYM2 (Affinity Capture-MS), CDYL (Affinity Capture-MS), ATP9A (Affinity Capture-MS), EHMT2 (Affinity Capture-MS), ADNP (Affinity Capture-MS), TCTN3 (Affinity Capture-MS)

ESM2 similar proteins: A0A5K7RLP0, A1YEX3, A7YWH3, B1WBU4, O15151, O35618, O43298, O88850, P24278, P97303, Q01954, Q0V8G8, Q15916, Q17RG1, Q562E2, Q5RC05, Q5RDQ6, Q5SXH7, Q5TC79, Q5VYS8, Q5W0Q7, Q5XIN1, Q6ZPY5, Q6ZSB9, Q6ZU67, Q7ZUW7, Q7ZYI3, Q8BLK9, Q8BSV3, Q8IW35, Q8K088, Q8N680, Q8N7W2, Q8TCN5, Q8VHI4, Q8WW38, Q90W33, Q96BR9, Q96S38, Q99ME3

Diamond homologs: O95785, Q9H582

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 181 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
Transcriptional Regulation by E2F6	5	12.8×	5e-03
Deactivation of the beta-catenin transactivating complex	6	12.3×	1e-03
RNA Polymerase III Abortive And Retractive Initiation	5	12.2×	5e-03
Gastrulation	5	11.4×	5e-03
PKMTs methylate histone lysines	6	8.5×	5e-03
ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression	6	8.0×	5e-03
Transcriptional regulation by RUNX1	6	7.7×	6e-03
Negative Regulation of CDH1 Gene Transcription	7	7.4×	5e-03

GO biological processes:

GO term	Partners	Fold	FDR
neuron fate specification	5	21.4×	4e-04
heterochromatin formation	9	14.0×	2e-06
chromatin organization	10	6.0×	7e-04
transcription by RNA polymerase II	12	5.2×	5e-04
chromatin remodeling	10	4.5×	7e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	3
Likely pathogenic	0
Uncertain significance	180
Likely benign	15
Benign	13

Top pathogenic / likely-pathogenic (3)

Variant ID	HGVS	Classification
31107	NM_201269.3(ZNF644):c.2014A>G (p.Ser672Gly)	Pathogenic
31108	NM_201269.3(ZNF644):c.1759A>G (p.Ile587Val)	Pathogenic
31109	NM_201269.3(ZNF644):c.*592G>A	Pathogenic

SpliceAI

1526 predictions. Top by Δscore:

Variant	Effect	Δscore
1:90918047:TATAC:T	donor_loss	1.0000
1:90918048:ATAC:A	donor_loss	1.0000
1:90918049:TACCT:T	donor_loss	1.0000
1:90918050:A:C	donor_loss	1.0000
1:90918051:C:CG	donor_loss	1.0000
1:90918150:TAAGG:T	acceptor_gain	1.0000
1:90937479:TCTTA:T	donor_loss	1.0000
1:90937480:CTTAC:C	donor_loss	1.0000
1:90937481:TTACC:T	donor_loss	1.0000
1:90937482:TACCT:T	donor_loss	1.0000
1:90937483:A:AT	donor_loss	1.0000
1:90937484:C:CG	donor_loss	1.0000
1:90941310:C:CC	acceptor_gain	1.0000
1:90982308:A:AC	donor_gain	1.0000
1:90982309:C:CC	donor_gain	1.0000
1:90982309:C:CG	donor_loss	1.0000
1:90982309:CCTAG:C	donor_gain	1.0000
1:90982366:CAAAC:C	acceptor_gain	1.0000
1:90982371:C:CA	acceptor_loss	1.0000
1:90982371:C:CC	acceptor_gain	1.0000
1:90982372:T:G	acceptor_loss	1.0000
1:90916989:AC:A	acceptor_gain	0.9900
1:90916990:CC:C	acceptor_gain	0.9900
1:90916991:C:CC	acceptor_gain	0.9900
1:90916991:CT:C	acceptor_loss	0.9900
1:90918151:AAGG:A	acceptor_gain	0.9900
1:90918152:AGG:A	acceptor_gain	0.9900
1:90918153:GG:G	acceptor_gain	0.9900
1:90918155:C:CC	acceptor_gain	0.9900
1:90941305:TTAGT:T	acceptor_gain	0.9900

AlphaMissense

8800 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:90916921:A:C	H1287Q	1.000
1:90916921:A:T	H1287Q	1.000
1:90916922:T:G	H1287P	1.000
1:90916923:G:C	H1287D	1.000
1:90916925:C:G	R1286P	1.000
1:90916931:A:G	L1284S	1.000
1:90916933:G:C	H1283Q	1.000
1:90916933:G:T	H1283Q	1.000
1:90916934:T:C	H1283R	1.000
1:90916935:G:C	H1283D	1.000
1:90916935:G:T	H1283N	1.000
1:90916942:C:A	W1280C	1.000
1:90916942:C:G	W1280C	1.000
1:90916943:C:G	W1280S	1.000
1:90916944:A:G	W1280R	1.000
1:90916944:A:T	W1280R	1.000
1:90916967:C:T	G1272E	1.000
1:90916968:C:G	G1272R	1.000
1:90916968:C:T	G1272R	1.000
1:90916972:A:C	F1270L	1.000
1:90916972:A:T	F1270L	1.000
1:90916973:A:G	F1270S	1.000
1:90916974:A:G	F1270L	1.000
1:90916984:A:C	C1266W	1.000
1:90916985:C:A	C1266F	1.000
1:90916985:C:T	C1266Y	1.000
1:90916986:A:G	C1266R	1.000
1:90918054:G:C	C1263W	1.000
1:90918055:C:A	C1263F	1.000
1:90918055:C:G	C1263S	1.000

dbSNP variants (sampled 300 via entrez): RS1000008657 (1:90976479 A>G), RS1000035079 (1:90932397 A>T), RS1000045587 (1:90999337 G>T), RS1000054723 (1:91021722 C>T), RS1000059826 (1:90978033 T>C), RS1000076916 (1:91021861 G>A), RS1000087699 (1:90976010 A>G), RS1000090725 (1:90978413 A>G), RS1000180439 (1:90915317 T>A,C,G), RS1000200497 (1:90963918 T>C), RS1000214123 (1:90995457 C>T), RS1000222392 (1:90953391 T>TGAAGGGA), RS1000222747 (1:91009989 A>G), RS1000248832 (1:90954262 C>T), RS1000274982 (1:91005720 G>C)

Disease associations

OMIM: gene MIM:614159 | disease phenotypes: MIM:614167

GenCC curated gene-disease

Disease	Classification	Inheritance
myopia 21, autosomal dominant	Strong	Autosomal dominant

Mondo (1): myopia 21, autosomal dominant (MONDO:0013604)

Orphanet (0):

HPO phenotypes

3 total (3 of 3 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0011003	High myopia
HP:0011463	Childhood onset

GWAS associations

12 associations (top):

Study	Trait	p-value
GCST000753_13	Metabolic syndrome	6.000000e-06
GCST003678_8	C-reactive protein levels or total cholesterol levels (pleiotropy)	2.000000e-08
GCST004077_3	Cognitive function	3.000000e-08
GCST006921_1	Regular attendance at a pub or social club	2.000000e-13
GCST007565_127	Morning person	4.000000e-21
GCST007576_21	Chronotype	4.000000e-21
GCST007614_35	C-reactive protein levels	6.000000e-12
GCST007615_8	C-reactive protein levels	3.000000e-11
GCST008972_16	Urate levels	3.000000e-08
GCST011703_38	Smoking initiation	7.000000e-11
GCST011704_2	Smoking status (current vs never)	2.000000e-08
GCST90013406_209	Liver enzyme levels (alkaline phosphatase)	2.000000e-11

EFO canonical traits (11, from GWAS)

EFO ID	Trait name
EFO:0000195	metabolic syndrome
EFO:0004343	waist-hip ratio
EFO:0004458	C-reactive protein measurement
EFO:0004574	total cholesterol measurement
EFO:0004337	intelligence
EFO:0009592	social interaction measurement
EFO:0008328	chronotype measurement
EFO:0004531	urate measurement
EFO:0005670	smoking initiation
EFO:0006527	smoking status measurement
EFO:0004533	alkaline phosphatase measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression	3
perfluorooctane sulfonic acid	decreases expression	2
Air Pollutants	increases abundance, affects cotreatment, decreases expression	2
Smoke	decreases expression, increases abundance	2
Cadmium Chloride	decreases expression, increases expression	2
aristolochic acid I	decreases expression	1
FR900359	affects phosphorylation	1
bisphenol F	affects cotreatment, increases expression	1
dicrotophos	decreases expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	decreases expression, increases abundance, affects cotreatment	1
trichostatin A	decreases expression	1
beta-lapachone	decreases expression	1
mono-(2-ethylhexyl)phthalate	decreases methylation, increases abundance	1
sodium arsenite	increases expression	1
coumarin	decreases phosphorylation	1
methacrylaldehyde	affects cotreatment, decreases expression, increases abundance	1
di-n-butylphosphoric acid	affects expression	1
abrine	increases expression	1
bisphenol S	affects cotreatment, decreases expression	1
jinfukang	decreases expression, affects cotreatment	1
Temozolomide	increases expression	1
Zoledronic Acid	increases expression	1
Leflunomide	increases expression	1
Acrolein	affects cotreatment, decreases expression, increases abundance	1
Atrazine	decreases expression	1
Caffeine	decreases phosphorylation	1
Cisplatin	affects cotreatment, decreases expression	1
Clorgyline	increases expression	1

Cellosaurus cell lines

2 cell lines: 1 spontaneously immortalized cell line, 1 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_D8E1	Ubigene ARPE-19 ZNF644 KO	Spontaneously immortalized cell line	Male
CVCL_HA07	K562 eGFP-ZNF644	Cancer cell line	Female

Clinical trials (associated diseases)

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