ZZEF1

Summary

ZZEF1 (zinc finger ZZ-type and EF-hand domain containing 1, HGNC:29027) is a protein-coding gene on chromosome 17p13.2, encoding Zinc finger ZZ-type and EF-hand domain-containing protein 1 (O43149). Histone H3 reader which may act as a transcriptional coactivator for KLF6 and KLF9 transcription factors.

Enables histone reader activity; lysine-acetylated histone binding activity; and methylated histone binding activity. Predicted to act upstream of or within several processes, including glutamatergic synaptic transmission; regulation of peptidyl-tyrosine phosphorylation; and visual learning. Predicted to be located in cell surface; postsynapse; and presynaptic active zone.

Source: NCBI Gene 23140 — RefSeq curated summary.

At a glance

• GWAS associations: 18
• Clinical variants (ClinVar): 512 total
• MANE Select transcript: NM_015113

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29027
Approved symbol	ZZEF1
Name	zinc finger ZZ-type and EF-hand domain containing 1
Location	17p13.2
Locus type	gene with protein product
Status	Approved
Aliases	KIAA0399, ZZZ4, FLJ10821
Ensembl gene	ENSG00000074755
Ensembl biotype	protein_coding
OMIM	619459
Entrez	23140

Gene structure

Transcript identifiers

Ensembl transcripts: 12 — 5 retained_intron, 3 protein_coding, 3 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000381638, ENST00000570365, ENST00000571436, ENST00000572426, ENST00000572699, ENST00000572831, ENST00000573183, ENST00000573536, ENST00000573606, ENST00000574474, ENST00000575428, ENST00000884567

RefSeq mRNA: 1 — MANE Select: NM_015113 NM_015113

CCDS: CCDS11043

Canonical transcript exons

ENST00000381638 — 55 exons

Exon	Start	End
ENSE00000947265	4009604	4009757
ENSE00000947266	4008883	4008954
ENSE00001116266	4022709	4022828
ENSE00001116267	4070684	4070924
ENSE00001116269	4072608	4072756
ENSE00001116270	4075263	4075429
ENSE00001116276	4076637	4076759
ENSE00001196002	4074150	4074351
ENSE00001196005	4075097	4075178
ENSE00001267411	4082437	4082504
ENSE00001300153	4004445	4006970
ENSE00001602068	4019669	4019769
ENSE00001672384	4021129	4021320
ENSE00001737092	4017371	4017730
ENSE00003459251	4112609	4112808
ENSE00003470300	4032828	4033002
ENSE00003473943	4077883	4078042
ENSE00003480050	4059171	4059290
ENSE00003492667	4104633	4104811
ENSE00003493658	4056216	4056345
ENSE00003495163	4090719	4090830
ENSE00003498642	4054057	4054195
ENSE00003517258	4017836	4017971
ENSE00003528538	4042429	4042568
ENSE00003532597	4049708	4049859
ENSE00003535647	4024919	4025118
ENSE00003546838	4087434	4087534
ENSE00003547662	4057994	4058155
ENSE00003573019	4085670	4085803
ENSE00003575793	4116972	4117166
ENSE00003579027	4013449	4013614
ENSE00003585007	4123907	4124051
ENSE00003590703	4096609	4096700
ENSE00003595424	4014090	4014188
ENSE00003595577	4102317	4102415
ENSE00003606002	4105693	4105809
ENSE00003606238	4044224	4044374
ENSE00003608223	4066447	4066540
ENSE00003610510	4095831	4095979
ENSE00003614147	4062753	4062917
ENSE00003621679	4050781	4051043
ENSE00003622447	4114299	4114470
ENSE00003623769	4086486	4086655
ENSE00003630098	4109653	4109863
ENSE00003633488	4051971	4052136
ENSE00003636488	4142542	4143030
ENSE00003637763	4088678	4088893
ENSE00003640216	4032126	4032258
ENSE00003652393	4014347	4014515
ENSE00003667210	4081376	4081490
ENSE00003675710	4067163	4067242
ENSE00003678999	4034015	4034292
ENSE00003684756	4064361	4064829
ENSE00003688092	4016323	4016466
ENSE00003692687	4076868	4076989

Expression profiles

Bgee: expression breadth ubiquitous, 285 present calls, max score 94.87.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 13.6537 / max 209.5834, expressed in 1793 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
163901	13.5889	1793
163900	0.0647	23

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
jejunal mucosa	UBERON:0000399	94.87	gold quality
sural nerve	UBERON:0015488	93.17	gold quality
small intestine Peyer’s patch	UBERON:0003454	92.51	gold quality
small intestine	UBERON:0002108	92.29	gold quality
colonic epithelium	UBERON:0000397	92.27	gold quality
ileal mucosa	UBERON:0000331	91.77	gold quality
transverse colon	UBERON:0001157	91.47	gold quality
mucosa of stomach	UBERON:0001199	91.38	gold quality
jejunum	UBERON:0002115	91.29	gold quality
colonic mucosa	UBERON:0000317	91.17	gold quality
mucosa of sigmoid colon	UBERON:0004993	90.65	gold quality
sperm	CL:0000019	90.55	gold quality
adrenal tissue	UBERON:0018303	90.47	gold quality
intestine	UBERON:0000160	90.34	gold quality
duodenum	UBERON:0002114	90.25	gold quality
tonsil	UBERON:0002372	90.12	gold quality
rectum	UBERON:0001052	90.08	gold quality
male germ cell	CL:0000015	90.03	gold quality
lower esophagus muscularis layer	UBERON:0035833	89.96	gold quality
lower esophagus	UBERON:0013473	89.93	gold quality
colon	UBERON:0001155	89.80	gold quality
large intestine	UBERON:0000059	89.67	gold quality
blood	UBERON:0000178	89.31	gold quality
granulocyte	CL:0000094	89.26	gold quality
bone marrow cell	CL:0002092	89.24	gold quality
gastrocnemius	UBERON:0001388	89.17	gold quality
gingival epithelium	UBERON:0001949	89.14	gold quality
body of pancreas	UBERON:0001150	89.08	gold quality
blood vessel layer	UBERON:0004797	89.04	gold quality
muscle of leg	UBERON:0001383	88.95	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	7.06
E-MTAB-7606	no	145.02
E-CURD-112	no	2.58

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

95 targeting ZZEF1, 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-1277-5P	100.00	73.95	5056
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-4283	100.00	66.42	2097
HSA-MIR-6793-5P	99.97	65.95	758
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-LET-7C-3P	99.95	73.42	2862
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AH-3P	99.93	72.54	4872
HSA-MIR-548AM-3P	99.93	72.54	4872
HSA-MIR-548AQ-3P	99.93	72.66	4867
HSA-MIR-338-5P	99.92	72.34	2951
HSA-MIR-8063	99.91	69.76	3146
HSA-MIR-7-1-3P	99.91	71.53	4384
HSA-MIR-7-2-3P	99.91	71.40	4394
HSA-MIR-137-3P	99.87	74.74	2401
HSA-MIR-548D-3P	99.87	70.67	4362
HSA-MIR-548BB-3P	99.86	70.58	4354
HSA-MIR-548AC	99.84	70.77	4351
HSA-MIR-548H-3P	99.84	70.80	4349
HSA-MIR-548Z	99.84	70.80	4349
HSA-MIR-4698	99.84	71.41	4303
HSA-MIR-448	99.79	72.37	2103
HSA-MIR-6745	99.74	65.33	1321
HSA-MIR-4524A-3P	99.72	66.85	2406
HSA-MIR-1200	99.71	70.42	1838

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	zzef1	ENSDARG00000094380
mus_musculus	Zzef1	ENSMUSG00000055670
rattus_norvegicus	Zzef1	ENSRNOG00000024535

Protein

Protein identifiers

Zinc finger ZZ-type and EF-hand domain-containing protein 1 — O43149 (reviewed: O43149)

All UniProt accessions (5): O43149, I3L141, I3L1Q8, I3L2N1, I3L3Q3

UniProt curated annotations — full annotation on UniProt →

Function. Histone H3 reader which may act as a transcriptional coactivator for KLF6 and KLF9 transcription factors.

Subunit / interactions. Interacts with KLF6 and KLF9. Interacts via (ZZ-type 2 zinc finger) with histone H3 trimethylated at ‘Lys-4’ (H3K4me3) and histone H3 acetylated at ‘Lys-4’ (H3K4ac).

Tissue specificity. Expressed at low levels in cerebellum.

Miscellaneous. Incomplete sequence. May be due to an intron retention.

Isoforms (3)

UniProt ID	Names	Canonical?
O43149-1	1	yes
O43149-2	2
O43149-3	3

RefSeq proteins (1): NP_055928* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000433	Znf_ZZ	Domain
IPR002048	EF_hand_dom	Domain
IPR004939	APC_su10/DOC_dom	Domain
IPR008979	Galactose-bd-like_sf	Homologous_superfamily
IPR011992	EF-hand-dom_pair	Homologous_superfamily
IPR040099	ZZEF1	Family
IPR041986	ZZEF1_ZZ	Domain
IPR043145	Znf_ZZ_sf	Homologous_superfamily
IPR047052	ZZEF1_APC10	Domain

Pfam: PF00569, PF03256

UniProt features (64 total): binding site 16, modified residue 12, sequence variant 10, splice variant 6, compositionally biased region 5, region of interest 4, domain 2, zinc finger region 2, mutagenesis site 2, sequence conflict 2, initiator methionine 1, chain 1, lipid moiety-binding region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

No AlphaFold model available for O43149 — AlphaFold DB does not currently provide models for proteins above ~3000 aa.

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 (16): 1783; 1786; 1797; 1800; 1806; 1809; 1819; 1823; 1832; 1835; 1846; 1849 …

Post-translational modifications (13): 240, 1475, 1488, 1509, 1512, 1518, 1521, 1523, 1537, 1540, 2444, 2667, 2

Mutagenesis-validated functional residues (2):

Position	Phenotype
1833	loss of histone h3 binding.
1853	loss of histone h3 binding.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 140 (showing top): CREBP1_Q2, YY1_Q6, CREB_Q4, YY1_02, ATF4_Q2, GRYDER_PAX3FOXO1_ENHANCERS_IN_TADS, MILI_PSEUDOPODIA_CHEMOTAXIS_DN, ATF_01, TGGAAA_NFAT_Q4_01, GRYDER_PAX3FOXO1_TOP_ENHANCERS, CGTSACG_PAX3_B, SCGGAAGY_ELK1_02, GOMF_HISTONE_BINDING, AAGWWRNYGGC_UNKNOWN, CREB_Q2

GO Biological Process (0):

GO Molecular Function (5): calcium ion binding (GO:0005509), zinc ion binding (GO:0008270), histone binding (GO:0042393), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (0):

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
metal ion binding	1
transition metal ion binding	1
protein binding	1
binding	1
cation binding	1

Protein interactions and networks

STRING

1378 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ZZEF1	FTSJ3	Q8IY81	557
ZZEF1	KATNBL1	Q9H079	532
ZZEF1	MIX23	Q4VC31	530
ZZEF1	C11orf86	A6NJI1	522
ZZEF1	ZCCHC14	Q8WYQ9	481
ZZEF1	IMMP1L	Q96LU5	480
ZZEF1	RNF222	A6NCQ9	477
ZZEF1	PRRT3	Q5FWE3	463
ZZEF1	TIMM21	Q9BVV7	452
ZZEF1	MED31	Q9Y3C7	449
ZZEF1	CCDC68	Q9H2F9	445
ZZEF1	SKIL	P12756	431
ZZEF1	WDR54	Q9H977	428
ZZEF1	ANO5	Q75V66	425
ZZEF1	TMEM51	Q9NW97	419

IntAct

179 interactions, top by confidence:

A	B	Type	Score
GMNN	MCIDAS	psi-mi:“MI:0914”(association)	0.770
GPR156	PLD2	psi-mi:“MI:0914”(association)	0.640
YJU2B	RCCD1	psi-mi:“MI:0914”(association)	0.530
DLK1	TCAF2	psi-mi:“MI:0914”(association)	0.530
RBFA	METTL15	psi-mi:“MI:0914”(association)	0.530
ODAD4	GNPAT	psi-mi:“MI:0914”(association)	0.530
SERPINA5	ZZEF1	psi-mi:“MI:0914”(association)	0.530
CPA6	PPM1G	psi-mi:“MI:0914”(association)	0.530
ANGPT2	ZZEF1	psi-mi:“MI:0914”(association)	0.530
GAST	ZZEF1	psi-mi:“MI:0914”(association)	0.530
FOSL2	ZZEF1	psi-mi:“MI:0914”(association)	0.530
CCNG1	ZZEF1	psi-mi:“MI:0914”(association)	0.530
ACSBG2	ZZEF1	psi-mi:“MI:0914”(association)	0.530
CAVIN1	ZZEF1	psi-mi:“MI:0914”(association)	0.530
TRMT10C	ZZEF1	psi-mi:“MI:0914”(association)	0.530
MRPL10	ZZEF1	psi-mi:“MI:0914”(association)	0.530
POGLUT1	ZZEF1	psi-mi:“MI:0914”(association)	0.530
MRPS24	ZZEF1	psi-mi:“MI:0914”(association)	0.530
CHRDL1	ZZEF1	psi-mi:“MI:0914”(association)	0.530
PARD6B	ZZEF1	psi-mi:“MI:0914”(association)	0.530
COPS7B	ZZEF1	psi-mi:“MI:0914”(association)	0.530
WFDC10A	ZZEF1	psi-mi:“MI:0914”(association)	0.530
CLEC3A	ZZEF1	psi-mi:“MI:0914”(association)	0.530
MRPS34	ZZEF1	psi-mi:“MI:0914”(association)	0.530

BioGRID (197): ZZEF1 (Affinity Capture-MS), ZZEF1 (Affinity Capture-MS), ZZEF1 (Affinity Capture-MS), ZZEF1 (Affinity Capture-MS), ZZEF1 (Affinity Capture-MS), ZZEF1 (Affinity Capture-MS), ZZEF1 (Affinity Capture-MS), ZZEF1 (Affinity Capture-MS), ZZEF1 (Affinity Capture-MS), ZZEF1 (Affinity Capture-MS), ZZEF1 (Affinity Capture-MS), ZZEF1 (Affinity Capture-MS), ZZEF1 (Affinity Capture-MS), ZZEF1 (Affinity Capture-MS), ZZEF1 (Affinity Capture-MS)

ESM2 similar proteins: A0JM24, A1A5R7, A2AKG8, A2CI34, D3YWQ0, F1MAB7, F6S215, O08653, O43149, O54705, O62699, P29477, P35608, P59438, P97499, Q06518, Q08DB2, Q20CR4, Q27995, Q28314, Q4R856, Q4TVR5, Q4VSN2, Q4VSN3, Q4VSN4, Q4VSN5, Q5BIW4, Q5EB20, Q5R6T6, Q5SSH7, Q5TEA3, Q5VW36, Q6NV72, Q6NXH8, Q6NXP6, Q6P996, Q6XUX0, Q6XUX1, Q6XUX2, Q6XUX3

Diamond homologs: D3ZEF4, O43149, O95714, Q14999, Q3U487, Q4U2R1, Q5RCJ3, Q5SSH7, Q5T447, Q80TT8, Q8IWT3, Q8VE73, Q9VR91, A2A5Z6, A6NED2, A9JRZ0, D3ZBM7, D3ZGQ5, E1C656, F1N6G5, F2Z461, F8W2M1, O74881, O75592, O95199, P0C5Y8, P14199, P18754, P23800, P34664, Q15034, Q1LZE1, Q24629, Q28BK1, Q2TAS2, Q3MHW0, Q3U0D9, Q4R828, Q52KW8, Q54VW7

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 177 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
Mitochondrial translation initiation	9	12.0×	1e-05
Mitochondrial translation elongation	9	12.0×	1e-05
Mitochondrial ribosome-associated quality control	9	11.6×	1e-05
Mitochondrial translation	8	11.6×	5e-05
Mitochondrial translation termination	9	10.4×	3e-05
rRNA processing	6	9.2×	3e-03
Translation	10	6.5×	2e-04

GO biological processes:

GO term	Partners	Fold	FDR
mitochondrial translation	9	10.6×	2e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	427
Likely benign	28
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

9345 predictions. Top by Δscore:

Variant	Effect	Δscore
17:4008950:AGCTC:A	acceptor_gain	1.0000
17:4008952:CTC:C	acceptor_gain	1.0000
17:4008953:TC:T	acceptor_gain	1.0000
17:4008954:CC:C	acceptor_gain	1.0000
17:4008954:CCT:C	acceptor_loss	1.0000
17:4008955:C:A	acceptor_loss	1.0000
17:4008955:C:CC	acceptor_gain	1.0000
17:4008956:T:G	acceptor_loss	1.0000
17:4009601:CA:C	donor_loss	1.0000
17:4009602:ACCT:A	donor_loss	1.0000
17:4009603:CC:C	donor_loss	1.0000
17:4009753:GGTCA:G	acceptor_gain	1.0000
17:4009755:TCA:T	acceptor_gain	1.0000
17:4009756:CA:C	acceptor_gain	1.0000
17:4009756:CAC:C	acceptor_gain	1.0000
17:4009756:CACT:C	acceptor_loss	1.0000
17:4009757:ACT:A	acceptor_loss	1.0000
17:4009758:C:CC	acceptor_gain	1.0000
17:4009758:CT:C	acceptor_loss	1.0000
17:4013443:GCTTA:G	donor_loss	1.0000
17:4013444:CTTA:C	donor_loss	1.0000
17:4013445:TTA:T	donor_loss	1.0000
17:4013446:TACC:T	donor_loss	1.0000
17:4013447:ACCT:A	donor_loss	1.0000
17:4013612:ATC:A	acceptor_gain	1.0000
17:4013613:TC:T	acceptor_gain	1.0000
17:4013614:CC:C	acceptor_gain	1.0000
17:4013615:C:A	acceptor_loss	1.0000
17:4013615:C:CC	acceptor_gain	1.0000
17:4013620:C:CT	acceptor_gain	1.0000

AlphaMissense

19470 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:4014128:A:G	F2792S	1.000
17:4014167:A:G	F2779S	1.000
17:4014179:A:G	L2775P	1.000
17:4014368:A:G	W2765R	1.000
17:4014368:A:T	W2765R	1.000
17:4014433:A:G	L2743S	1.000
17:4014484:A:G	L2726P	1.000
17:4052008:A:G	C1855R	1.000
17:4052033:G:C	C1846W	1.000
17:4052035:A:G	C1846R	1.000
17:4052075:A:C	C1832W	1.000
17:4052076:C:T	C1832Y	1.000
17:4052077:A:G	C1832R	1.000
17:4054064:G:C	C1809W	1.000
17:4054066:A:G	C1809R	1.000
17:4054075:A:G	C1806R	1.000
17:4054077:A:G	L1805P	1.000
17:4054093:A:G	C1800R	1.000
17:4054100:A:C	C1797W	1.000
17:4054102:A:G	C1797R	1.000
17:4054142:A:C	C1783W	1.000
17:4054143:C:T	C1783Y	1.000
17:4054144:A:G	C1783R	1.000
17:4075161:A:G	F1140S	1.000
17:4109860:A:T	V357D	1.000
17:4014122:A:T	V2794E	0.999
17:4014135:A:C	Y2790D	0.999
17:4014137:C:A	G2789V	0.999
17:4014137:C:T	G2789D	0.999
17:4014138:C:G	G2789R	0.999

dbSNP variants (sampled 300 via entrez): RS1000003314 (17:4055046 A>G), RS1000007857 (17:4034965 C>T), RS1000015306 (17:4017053 G>A), RS1000086002 (17:4011577 A>G), RS1000100248 (17:4094598 T>G), RS1000119574 (17:4127354 G>A,T), RS1000147807 (17:4049274 G>A,C), RS1000156556 (17:4027861 G>A), RS1000168291 (17:4051223 CA>C), RS1000172348 (17:4127598 C>A), RS1000174397 (17:4087915 C>T), RS1000176832 (17:4049567 A>C,G), RS1000185314 (17:4011376 C>A,T), RS1000185651 (17:4126045 T>C), RS1000199391 (17:4066654 G>A,C)

Disease associations

OMIM: gene MIM:619459 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

18 associations (top):

Study	Trait	p-value
GCST002188_5	Functional impairment in major depressive disorder, bipolar disorder and schizophrenia	5.000000e-06
GCST002726_70	Glucose homeostasis traits	7.000000e-06
GCST004773_11	Type 2 diabetes	3.000000e-10
GCST005025_10	Anti-saccade response	3.000000e-06
GCST006867_136	Type 2 diabetes	4.000000e-14
GCST006979_650	Heel bone mineral density	5.000000e-09
GCST007094_200	Diastolic blood pressure	1.000000e-08
GCST007515_3	Type 2 diabetes	8.000000e-11
GCST007516_29	Type 2 diabetes (adjusted for BMI)	2.000000e-07
GCST007517_21	Type 2 diabetes	9.000000e-11
GCST007518_28	Type 2 diabetes (adjusted for BMI)	8.000000e-09
GCST007847_110	Type 2 diabetes	8.000000e-09
GCST009379_174	Type 2 diabetes	8.000000e-07
GCST009379_175	Type 2 diabetes	2.000000e-07
GCST009379_176	Type 2 diabetes	4.000000e-13
GCST010002_118	Refractive error	6.000000e-14
GCST012309_4	Schizophrenia	2.000000e-07
GCST90002401_575	Platelet distribution width	4.000000e-12

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0005412	functional impairment measurement
EFO:0006830	insulin metabolic clearance rate measurement
EFO:0006874	antisaccade response measurement
EFO:0009270	heel bone mineral density
EFO:0006336	diastolic blood pressure
EFO:0007984	platelet component distribution width

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, decreases expression, increases methylation	3
sodium arsenite	affects cotreatment, decreases expression, increases abundance, increases expression	2
Arsenic	affects cotreatment, decreases expression, increases abundance, increases expression	2
Cisplatin	decreases expression, increases reaction	2
aristolochic acid I	increases expression	1
bisphenol F	affects cotreatment, decreases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	decreases methylation	1
arsenite	affects binding, decreases reaction	1
cobaltous chloride	increases expression	1
manganese chloride	affects cotreatment, decreases expression, increases abundance	1
benzo(e)pyrene	increases methylation	1
coumarin	increases phosphorylation	1
beta-methylcholine	affects expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
ICG 001	increases expression	1
bisphenol S	affects cotreatment, decreases expression	1
jinfukang	decreases expression, increases reaction	1
(+)-JQ1 compound	increases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	increases expression	1
Sunitinib	increases expression	1
Acetaminophen	decreases expression	1
Air Pollutants	affects expression, increases abundance	1
Atrazine	decreases expression	1
Caffeine	affects phosphorylation	1
Dexamethasone	affects cotreatment, decreases expression	1
Indomethacin	affects cotreatment, decreases expression	1
Ivermectin	decreases expression	1
Manganese	decreases expression, increases abundance, affects cotreatment	1

Clinical trials (associated diseases)

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