MIDEAS

Summary

MIDEAS (mitotic deacetylase associated SANT domain protein, HGNC:19853) is a protein-coding gene on chromosome 14q24.3, encoding Mitotic deacetylase-associated SANT domain protein (Q6PJG2).

Predicted to enable transcription corepressor activity. Predicted to be involved in negative regulation of DNA-templated transcription and regulation of transcription by RNA polymerase II. Located in nucleoplasm.

Source: NCBI Gene 91748 — RefSeq curated summary.

At a glance

• GWAS associations: 28
• Clinical variants (ClinVar): 184 total
• Druggable target: yes
• MANE Select transcript: NM_001367710

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:19853
Approved symbol	MIDEAS
Name	mitotic deacetylase associated SANT domain protein
Location	14q24.3
Locus type	gene with protein product
Status	Approved
Aliases	LSR68
Ensembl gene	ENSG00000156030
Ensembl biotype	protein_coding
OMIM	621074
Entrez	91748

Gene structure

Transcript identifiers

Ensembl transcripts: 14 — 8 protein_coding, 4 retained_intron, 1 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000286523, ENST00000394071, ENST00000421708, ENST00000423556, ENST00000451078, ENST00000462716, ENST00000476562, ENST00000478847, ENST00000483269, ENST00000486739, ENST00000906703, ENST00000906704, ENST00000968095, ENST00000968096

RefSeq mRNA: 4 — MANE Select: NM_001367710 NM_001043318, NM_001367710, NM_001394972, NM_194278

CCDS: CCDS91901, CCDS9819

Canonical transcript exons

ENST00000423556 — 13 exons

Exon	Start	End
ENSE00001366094	73736998	73737297
ENSE00001382111	73738560	73740255
ENSE00001623739	73719305	73719501
ENSE00001692224	73715122	73719008
ENSE00003468079	73726033	73726108
ENSE00003485446	73726830	73726972
ENSE00003504341	73727458	73727524
ENSE00003507161	73725272	73725360
ENSE00003538509	73721297	73721509
ENSE00003554381	73726604	73726707
ENSE00003567676	73729640	73729985
ENSE00003655026	73722698	73722847
ENSE00003937024	73759763	73760303

Expression profiles

Bgee: expression breadth ubiquitous, 258 present calls, max score 98.70.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 27.6293 / max 312.2478, expressed in 1816 samples.

FANTOM5 promoters (13 alternative TSS)

Promoter ID	TPM avg	Samples expressed
143989	7.9039	1577
143992	5.9682	1662
143986	5.3584	1495
143987	4.4558	1431
143991	1.3694	855
143996	0.6364	266
143988	0.5985	299
143983	0.4188	203
143993	0.3738	178
143982	0.2393	99

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sural nerve	UBERON:0015488	98.70	gold quality
colonic epithelium	UBERON:0000397	94.73	gold quality
ileal mucosa	UBERON:0000331	93.78	gold quality
mucosa of stomach	UBERON:0001199	93.43	gold quality
skin of leg	UBERON:0001511	92.80	gold quality
skin of abdomen	UBERON:0001416	92.45	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	92.28	gold quality
upper arm skin	UBERON:0004263	92.11	gold quality
zone of skin	UBERON:0000014	91.75	gold quality
bone marrow cell	CL:0002092	90.60	gold quality
left uterine tube	UBERON:0001303	90.54	gold quality
ectocervix	UBERON:0012249	89.99	gold quality
gall bladder	UBERON:0002110	89.93	gold quality
vagina	UBERON:0000996	89.67	gold quality
muscle layer of sigmoid colon	UBERON:0035805	89.54	gold quality
tibial nerve	UBERON:0001323	89.53	gold quality
left ovary	UBERON:0002119	89.52	gold quality
uterine cervix	UBERON:0000002	89.45	gold quality
right ovary	UBERON:0002118	89.32	gold quality
smooth muscle tissue	UBERON:0001135	89.30	gold quality
ovary	UBERON:0000992	89.07	gold quality
tibialis anterior	UBERON:0001385	89.05	gold quality
transverse colon	UBERON:0001157	88.92	gold quality
omental fat pad	UBERON:0010414	88.83	gold quality
upper lobe of left lung	UBERON:0008952	88.80	gold quality
peritoneum	UBERON:0002358	88.79	gold quality
right lung	UBERON:0002167	88.60	gold quality
subcutaneous adipose tissue	UBERON:0002190	88.60	gold quality
small intestine Peyer’s patch	UBERON:0003454	88.52	gold quality
adipose tissue of abdominal region	UBERON:0007808	88.50	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-MTAB-9801	yes	6.38
E-CURD-89	no	642.42
E-MTAB-10137	no	6.13
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

185 targeting MIDEAS, 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-4262	100.00	73.26	3931
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-450A-1-3P	100.00	69.33	1837
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-3689D	100.00	66.14	1181
HSA-MIR-6851-5P	100.00	65.63	1294
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-29A-3P	100.00	73.11	1835
HSA-MIR-29B-3P	100.00	73.18	1833
HSA-MIR-29C-3P	100.00	73.15	1833
HSA-MIR-4692	100.00	67.32	2066
HSA-MIR-3064-3P	100.00	70.09	1254
HSA-MIR-3134	100.00	66.43	777
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-1184	99.99	68.19	1458
HSA-MIR-3667-3P	99.99	67.17	1636
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-6891-5P	99.98	66.53	1372
HSA-MIR-6825-5P	99.96	69.81	3431

Literature-anchored findings (GeneRIF, showing 2)

• C14ORF43 (MIDEAS) is part of a mitotic deacetylase complex (MIDAC) formed in cell division with HDAC1/HDAC2 and DNTTIP1. (PMID:21258344)
• ELM2-SANT Domain-Containing Scaffolding Protein 1 Regulates Differentiation and Maturation of Cardiomyocytes Derived From Human-Induced Pluripotent Stem Cells. (PMID:38904247)

Cross-species orthologs

10 orthologs

Organism	Symbol	Gene ID
danio_rerio	mideasa	ENSDARG00000011445
danio_rerio	mideasb	ENSDARG00000053864
mus_musculus	Mideas	ENSMUSG00000042507
rattus_norvegicus	Mideas	ENSRNOG00000010653
drosophila_melanogaster	CG16779	FBGN0037698
caenorhabditis_elegans		WBGENE00005006
caenorhabditis_elegans		WBGENE00009224
caenorhabditis_elegans		WBGENE00010012
caenorhabditis_elegans		WBGENE00013632
caenorhabditis_elegans	rcor-1	WBGENE00022278

Paralogs (5): RCOR1 (ENSG00000089902), RCOR3 (ENSG00000117625), ZNF541 (ENSG00000118156), TRERF1 (ENSG00000124496), RCOR2 (ENSG00000167771)

Protein

Protein identifiers

Mitotic deacetylase-associated SANT domain protein — Q6PJG2 (reviewed: Q6PJG2)

Alternative names: ELM2 and SANT domain-containing protein 1

All UniProt accessions (4): Q6PJG2, A0A1C7CYX1, C9JYU7, H7C1L3

UniProt curated annotations — full annotation on UniProt →

Subunit / interactions. Interacts with DNTTIP1. Identified in a histone deacetylase complex that contains DNTTIP1, HDAC1 and MIDEAS; this complex assembles into a tetramer that contains four copies of each protein chain.

Subcellular location. Nucleus.

RefSeq proteins (4): NP_001036783, NP_001354639, NP_001381901, NP_919254 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000949	ELM2_dom	Domain
IPR001005	SANT/Myb	Domain
IPR009057	Homeodomain-like_sf	Homologous_superfamily
IPR017884	SANT_dom	Domain
IPR051066	Trans_reg/Corepressor	Family

Pfam: PF01448

UniProt features (38 total): modified residue 10, region of interest 9, compositionally biased region 8, cross-link 3, sequence variant 3, domain 2, sequence conflict 2, chain 1

Structure

Experimental structures (PDB)

3 structures.

PDB	Method	Resolution (Å)
9R4I	ELECTRON MICROSCOPY	2.92
6Z2J	ELECTRON MICROSCOPY	4
6Z2K	ELECTRON MICROSCOPY	4.5

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6PJG2-F1	48.77	0.08

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 (13): 1, 193, 447, 461, 655, 661, 704, 709, 715, 923, 166, 590, 590

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 275 (showing top): GGGACCA_MIR133A_MIR133B, TGGTGCT_MIR29A_MIR29B_MIR29C, RNGTGGGC_UNKNOWN, CREL_01, AP1_01, HNF3ALPHA_Q6, TGACCTY_ERR1_Q2, FOXO4_01, TTGCWCAAY_CEBPB_02, CEBPB_01, ATGTTAA_MIR302C, GTGCCTT_MIR506, TCF4_Q5, NFKB_C, CEBP_Q2

GO Biological Process (2): regulation of transcription by RNA polymerase II (GO:0006357), negative regulation of DNA-templated transcription (GO:0045892)

GO Molecular Function (4): DNA binding (GO:0003677), transcription corepressor activity (GO:0003714), protein binding (GO:0005515), zinc ion binding (GO:0008270)

GO Cellular Component (4): histone deacetylase complex (GO:0000118), nucleoplasm (GO:0005654), transcription regulator complex (GO:0005667), nucleus (GO:0005634)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
regulation of DNA-templated transcription	2
transcription by RNA polymerase II	1
DNA-templated transcription	1
negative regulation of RNA biosynthetic process	1
nucleic acid binding	1
transcription coregulator activity	1
negative regulation of DNA-templated transcription	1
binding	1
transition metal ion binding	1
nucleoplasm	1
nuclear protein-containing complex	1
catalytic complex	1
nuclear lumen	1
cellular anatomical structure	1
protein-containing complex	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

546 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MIDEAS	DNTTIP1	Q9H147	884
MIDEAS	KCTD19	Q17RG1	547
MIDEAS	TRERF1	Q96PN7	480
MIDEAS	CCNA2	P20248	429
MIDEAS	CCNA1	P78396	397
MIDEAS	PCNX4	Q63HM2	397
MIDEAS	F2RL3	Q96RI0	394
MIDEAS	PACSIN1	Q9BY11	376
MIDEAS	ZNF844	Q08AG5	373
MIDEAS	SIN3A	Q96ST3	368
MIDEAS	C1orf167	Q5SNV9	367
MIDEAS	PLK1	P53350	363
MIDEAS	ZNF808	Q8N4W9	352
MIDEAS	INO80D	Q53TQ3	337
MIDEAS	NSD1	Q96L73	337

IntAct

94 interactions, top by confidence:

A	B	Type	Score
HDAC1	KDM1A	psi-mi:“MI:0914”(association)	0.910
HDAC2	KDM1A	psi-mi:“MI:0914”(association)	0.890
DNTTIP1	HDAC1	psi-mi:“MI:0914”(association)	0.880
HDAC1	CDK2AP1	psi-mi:“MI:0914”(association)	0.840
HDAC1	TNRC18	psi-mi:“MI:0914”(association)	0.790
MAPK14	OBSL1	psi-mi:“MI:0914”(association)	0.790
HDAC1	ZNF609	psi-mi:“MI:0914”(association)	0.730
NFIC	NFIB	psi-mi:“MI:2364”(proximity)	0.690
RPL10A	RRP8	psi-mi:“MI:0914”(association)	0.640
KSR2	POLR3A	psi-mi:“MI:0914”(association)	0.530
CD44	PDPK1	psi-mi:“MI:0914”(association)	0.530
RBMX2	WDR46	psi-mi:“MI:0914”(association)	0.530
SRSF5	CBX6	psi-mi:“MI:0914”(association)	0.530
EN1	NFIB	psi-mi:“MI:2364”(proximity)	0.470
ESR1		psi-mi:“MI:0914”(association)	0.460
ESR2	FBLL1	psi-mi:“MI:0914”(association)	0.460
H3C1	SMCHD1	psi-mi:“MI:2364”(proximity)	0.410
Oxnad1	KPNA6	psi-mi:“MI:0914”(association)	0.350
Set	ZKSCAN1	psi-mi:“MI:0914”(association)	0.350
PPP4R2	TRAPPC13	psi-mi:“MI:0914”(association)	0.350
CCNA2	ZC3H18	psi-mi:“MI:0914”(association)	0.350
MIDEAS	SEC16A	psi-mi:“MI:0914”(association)	0.350
HDAC1	TRAK1	psi-mi:“MI:0914”(association)	0.350
MYH9	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
CDK2	MRPL27	psi-mi:“MI:0914”(association)	0.350
USP11	CNOT8	psi-mi:“MI:0914”(association)	0.350
KSR1	DDX39A	psi-mi:“MI:0914”(association)	0.350

BioGRID (152): ELMSAN1 (Affinity Capture-MS), ELMSAN1 (Affinity Capture-MS), ELMSAN1 (Co-fractionation), CCNA2 (Affinity Capture-MS), CDK2 (Affinity Capture-MS), CLTA (Affinity Capture-MS), CLTB (Affinity Capture-MS), GNAS (Affinity Capture-MS), HDAC1 (Affinity Capture-MS), HDAC2 (Affinity Capture-MS), NDUFA10 (Affinity Capture-MS), PFKM (Affinity Capture-MS), EIF2AK2 (Affinity Capture-MS), RAD51 (Affinity Capture-MS), TRIM27 (Affinity Capture-MS)

ESM2 similar proteins: A0JMU8, A5D7H5, E9Q2Z1, O15014, O15234, O43823, O70305, O75420, P48634, P61129, Q13625, Q1ECZ4, Q3UH68, Q3UIL6, Q569Z6, Q5BJ39, Q5CZI8, Q5M7V8, Q5R4R4, Q5TM26, Q5VK71, Q5VUA4, Q62415, Q68FI1, Q6IQ23, Q6MG48, Q6PJG2, Q6ZQ03, Q7TPM1, Q7TQG1, Q7TSC1, Q8AVJ2, Q8BZ47, Q8CG79, Q8K2F8, Q8K3W3, Q8K3X0, Q8N3X1, Q8ND56, Q96EV2

Diamond homologs: O75376, Q0GGX2, Q3U3N0, Q4KKX4, Q4R2Z8, Q59E36, Q5REE1, Q5UAK0, Q5ZJ40, Q5ZKT9, Q60974, Q6PGA0, Q6PJG2, Q7T105, Q8BXJ2, Q8N108, Q8N344, Q8QG78, Q96PN7, Q9H0D2, Q9P2K3, Q9Y618, Q20733, Q90WN5, A5PJX4, Q13330, Q18919, Q3UHF3, Q4R3R9, Q62599, Q7Z3K6, Q8K4B0

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 114 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
RNA Polymerase III Transcription Termination	5	31.0×	2e-04
RNA Polymerase III Abortive And Retractive Initiation	5	17.4×	2e-03
Deactivation of the beta-catenin transactivating complex	5	14.6×	3e-03
Negative Regulation of CDH1 Gene Transcription	7	10.5×	1e-03
Estrogen-dependent gene expression	7	6.6×	5e-03

GO biological processes:

GO term	Partners	Fold	FDR
neuron fate specification	5	33.1×	5e-05
positive regulation of miRNA transcription	5	13.7×	2e-03
cartilage development	5	11.9×	3e-03
somatic stem cell population maintenance	5	11.7×	3e-03
DNA-templated transcription	5	10.6×	4e-03
transcription by RNA polymerase II	15	10.0×	6e-09
anatomical structure morphogenesis	7	9.2×	7e-04
DNA replication	5	7.8×	9e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	163
Likely benign	8
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2566 predictions. Top by Δscore:

Variant	Effect	Δscore
14:73719352:A:AC	donor_gain	1.0000
14:73719353:C:CC	donor_gain	1.0000
14:73719408:T:TA	donor_gain	1.0000
14:73719409:C:A	donor_gain	1.0000
14:73719420:C:A	donor_gain	1.0000
14:73719497:CTGGC:C	acceptor_gain	1.0000
14:73719498:TGGC:T	acceptor_gain	1.0000
14:73719501:CCTGA:C	acceptor_loss	1.0000
14:73719502:C:CC	acceptor_gain	1.0000
14:73721296:CCGA:C	donor_gain	1.0000
14:73722694:TCA:T	donor_loss	1.0000
14:73722695:CACC:C	donor_loss	1.0000
14:73722696:A:T	donor_loss	1.0000
14:73722701:AATAT:A	donor_gain	1.0000
14:73722720:T:TA	donor_gain	1.0000
14:73722843:TGGAT:T	acceptor_gain	1.0000
14:73722846:AT:A	acceptor_gain	1.0000
14:73722847:TC:T	acceptor_loss	1.0000
14:73722848:C:CC	acceptor_gain	1.0000
14:73722849:T:A	acceptor_loss	1.0000
14:73722853:T:C	acceptor_gain	1.0000
14:73722853:T:TC	acceptor_gain	1.0000
14:73725266:GCTCA:G	donor_loss	1.0000
14:73725267:CTCAC:C	donor_loss	1.0000
14:73725268:TCACC:T	donor_loss	1.0000
14:73725270:A:AC	donor_gain	1.0000
14:73725270:A:AT	donor_loss	1.0000
14:73725271:C:CC	donor_gain	1.0000
14:73725271:CCAG:C	donor_gain	1.0000
14:73725357:GAGC:G	acceptor_gain	1.0000

AlphaMissense

7108 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
14:73719321:A:G	C1040R	1.000
14:73722797:C:A	K875N	1.000
14:73722797:C:G	K875N	1.000
14:73722821:G:C	C867W	1.000
14:73722823:A:G	C867R	1.000
14:73722836:C:A	K862N	1.000
14:73722836:C:G	K862N	1.000
14:73725290:G:C	F852L	1.000
14:73725290:G:T	F852L	1.000
14:73725291:A:G	F852S	1.000
14:73725292:A:G	F852L	1.000
14:73725294:T:A	D851V	1.000
14:73725294:T:C	D851G	1.000
14:73725315:C:T	G844D	1.000
14:73725316:C:G	G844R	1.000
14:73725324:A:G	F841S	1.000
14:73725347:C:A	W833C	1.000
14:73725347:C:G	W833C	1.000
14:73725348:C:G	W833S	1.000
14:73725349:A:G	W833R	1.000
14:73725349:A:T	W833R	1.000
14:73726948:G:C	F729L	1.000
14:73726948:G:T	F729L	1.000
14:73726950:A:G	F729L	1.000
14:73726959:C:G	G726R	1.000
14:73729752:G:C	S661R	1.000
14:73729752:G:T	S661R	1.000
14:73729754:T:G	S661R	1.000
14:73729756:A:G	L660P	1.000
14:73729756:A:T	L660H	1.000

dbSNP variants (sampled 300 via entrez): RS1000000833 (14:73753400 A>G), RS1000009687 (14:73733643 T>G), RS1000018516 (14:73728846 G>A), RS1000049538 (14:73728581 G>A), RS1000052823 (14:73718037 G>A,C), RS1000125278 (14:73773143 T>A), RS1000189874 (14:73716488 G>A), RS1000197688 (14:73771749 G>T), RS1000207546 (14:73770691 A>C), RS1000221769 (14:73759302 C>T), RS1000267277 (14:73766968 G>A), RS1000276629 (14:73786983 GCCCGGCCCAA>G), RS1000287421 (14:73722433 T>G), RS1000312468 (14:73752659 C>T), RS1000326995 (14:73787492 T>G)

Disease associations

OMIM: gene MIM:621074 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

28 associations (top):

Study	Trait	p-value
GCST004611_199	High light scatter reticulocyte count	4.000000e-22
GCST004612_133	High light scatter reticulocyte percentage of red cells	2.000000e-21
GCST004615_97	Hemoglobin concentration	2.000000e-09
GCST004619_60	Reticulocyte fraction of red cells	2.000000e-22
GCST004622_129	Reticulocyte count	2.000000e-22
GCST004628_58	Immature fraction of reticulocytes	6.000000e-10
GCST004630_153	Mean corpuscular hemoglobin	8.000000e-15
GCST005790_30	Rosacea symptom severity	5.000000e-06
GCST009151_13	High density lipoprotein cholesterol levels	2.000000e-22
GCST010204_175	Low density lipoprotein cholesterol levels	4.000000e-13
GCST010241_135	Apolipoprotein A1 levels	2.000000e-22
GCST010242_407	HDL cholesterol levels	6.000000e-20
GCST010243_244	Apolipoprotein B levels	8.000000e-10
GCST90002384_369	Hemoglobin	9.000000e-16
GCST90002385_32	High light scatter reticulocyte count	4.000000e-23
GCST90002385_33	High light scatter reticulocyte count	9.000000e-65
GCST90002386_174	High light scatter reticulocyte percentage of red cells	1.000000e-27
GCST90002386_175	High light scatter reticulocyte percentage of red cells	9.000000e-67
GCST90002387_1	Immature fraction of reticulocytes	1.000000e-30
GCST90002390_271	Mean corpuscular hemoglobin	2.000000e-16
GCST90002390_272	Mean corpuscular hemoglobin	2.000000e-16
GCST90002391_145	Mean corpuscular hemoglobin concentration	4.000000e-21
GCST90002392_460	Mean corpuscular volume	3.000000e-42
GCST90002404_399	Red cell distribution width	1.000000e-11
GCST90002405_373	Reticulocyte count	4.000000e-18
GCST90002405_374	Reticulocyte count	5.000000e-62
GCST90002406_426	Reticulocyte fraction of red cells	2.000000e-22
GCST90002406_427	Reticulocyte fraction of red cells	9.000000e-66

EFO canonical traits (10, from GWAS)

EFO ID	Trait name
EFO:0007986	reticulocyte count
EFO:0004509	hemoglobin measurement
EFO:0004527	mean corpuscular hemoglobin
EFO:0009180	rosacea severity measurement
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0004611	low density lipoprotein cholesterol measurement
EFO:0004614	apolipoprotein A 1 measurement
EFO:0004615	apolipoprotein B measurement
EFO:0004528	mean corpuscular hemoglobin concentration
EFO:0009188	Red cell distribution width

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6066489 (SINGLE PROTEIN)

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases expression, decreases expression, increases methylation, affects cotreatment	6
sodium arsenite	decreases expression, affects cotreatment, increases abundance, increases expression	4
trichostatin A	affects cotreatment, increases expression	2
Arsenic	affects cotreatment, decreases expression, increases abundance, increases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
aristolochic acid I	decreases expression	1
FR900359	affects phosphorylation	1
TAK-243	increases sumoylation	1
dicrotophos	increases expression	1
methylmercuric chloride	increases expression	1
ethyl-p-hydroxybenzoate	increases expression	1
2-butenal	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
coumarin	decreases phosphorylation	1
di-n-butylphosphoric acid	affects expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
abrine	increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
jinfukang	affects cotreatment, decreases expression	1
Leflunomide	increases expression	1
Acetaminophen	increases expression	1
Benzo(a)pyrene	affects methylation	1
Caffeine	affects phosphorylation	1
Cisplatin	affects cotreatment, decreases expression	1
Diazinon	increases methylation	1
Doxorubicin	decreases expression	1
Estradiol	increases expression	1
Formaldehyde	decreases expression	1
Lead	affects expression	1
Methylcholanthrene	affects binding, increases reaction	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5652899	Binding	Binding affinity to human ELMSAN1 incubated for 45 mins by Kinobead based pull down assay	NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem

Clinical trials (associated diseases)

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