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. Involved in chromatin organization. Located in nucleoplasm.

Source: NCBI Gene 91748 — automated summary from GO annotations (Alliance of Genome Resources).

At a glance

• GWAS associations: 28 (top 5% of genes corpus-wide)
• Clinical variants (ClinVar): 185 total
• Regional missense constraint (gnomAD): 2 of 5 regions constrained (≈3% of expected missense variation)
• GTEx eGene: eQTL in 29 tissues, sQTL in 16 (q < 0.05)
• Constraint (gnomAD): pLI 1.00 (loss-of-function intolerant), LOEUF 0.37 (moderately constrained)
• MANE Select transcript: NM_001367710
• Notable: 185 clinical variants but no curated precision-oncology (CIViC) evidence yet

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: 15 — 9 protein_coding, 4 retained_intron, 1 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

MANE Select: ENST00000423556

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 3, TSL 2: 4, TSL 3: 1, TSL 4: 2

ENST00000423556, ENST00000286523, ENST00000394071, ENST00000421708, ENST00000451078, ENST00000462716, ENST00000476562, ENST00000478847, ENST00000483269, ENST00000486739, ENST00000906703, ENST00000906704, ENST00000968095, ENST00000968096, ENST00001135922

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.

Highest expression (Bgee): sural nerve, colonic epithelium, ileal mucosa, mucosa of stomach, skin of leg.

Genetic regulation across tissues (GTEx eQTL / sQTL)

MIDEAS is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 29 tissues and its splicing (sQTL) in 16 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

showing 20 of 45 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Cells Cultured fibroblasts	eqtl	5.2e-26	+0.38	14:73716576:A:G
Testis	eqtl	2.3e-21	-0.24	14:73745414:G:T
Brain Cerebellar Hemisphere	eqtl	1.8e-20	-0.67	14:73718214:A:G
Brain Cerebellum	eqtl	2.1e-19	-0.94	14:73718214:A:G
Pituitary	eqtl	5.0e-17	-0.82	14:73718214:A:G
Nerve Tibial	eqtl	1.1e-15	-0.25	14:73730089:T:C
Cells EBV-transformed lymphocytes	eqtl	3.5e-12	+0.26	14:73633447:C:T
Skin Sun Exposed Lower leg	sqtl	5.6e-10	-0.50	14:73737983:G:C
Adipose Subcutaneous	sqtl	1.5e-09	-0.47	14:73736987:G:A
Cells EBV-transformed lymphocytes	sqtl	4.3e-09	-0.88	14:73701728:G:A
Artery Tibial	eqtl	3.2e-08	-0.20	14:73729983:T:C
Esophagus Muscularis	eqtl	7.7e-08	-0.27	14:73729983:T:C
Brain Frontal Cortex BA9	eqtl	8.2e-07	-0.45	14:73718214:A:G
Lung	sqtl	1.1e-06	-0.38	14:73737983:G:C
Colon Transverse	sqtl	1.6e-06	-0.50	14:73737983:G:C
Skin Not Sun Exposed Suprapubic	sqtl	5.0e-06	-0.40	14:73689063:G:T
Artery Tibial	sqtl	1.9e-05	-0.35	14:73737983:G:C
Heart Atrial Appendage	eqtl	4.3e-05	-0.28	14:73632550:T:C
Colon Transverse	eqtl	1.0e-04	-0.20	14:73730089:T:C
Colon Sigmoid	eqtl	2.3e-04	-0.23	14:73748916:A:C

FANTOM5 promoters

showing 10 of 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

showing 100 of 260 tissues 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
body of uterus	UBERON:0009853	88.22	gold quality
lymph node	UBERON:0000029	88.20	gold quality
leukocyte	CL:0000738	88.10	gold quality
monocyte	CL:0000576	88.08	gold quality
small intestine	UBERON:0002108	88.00	gold quality
upper lobe of lung	UBERON:0008948	87.98	gold quality
vermiform appendix	UBERON:0001154	87.62	gold quality
popliteal artery	UBERON:0002250	87.60	gold quality
tibial artery	UBERON:0007610	87.60	gold quality
adenohypophysis	UBERON:0002196	87.47	gold quality
colon	UBERON:0001155	87.42	gold quality
cardiac muscle of right atrium	UBERON:0003379	87.39	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	87.30	gold quality
penis	UBERON:0000989	87.26	gold quality
adipose tissue	UBERON:0001013	87.26	gold quality
tonsil	UBERON:0002372	87.19	gold quality
intestine	UBERON:0000160	87.13	gold quality
spleen	UBERON:0002106	87.04	gold quality
large intestine	UBERON:0000059	86.99	gold quality
rectum	UBERON:0001052	86.96	gold quality
aorta	UBERON:0000947	86.95	gold quality
calcaneal tendon	UBERON:0003701	86.95	gold quality
endocervix	UBERON:0000458	86.88	gold quality
synovial joint	UBERON:0002217	86.78	gold quality
pituitary gland	UBERON:0000007	86.77	gold quality
minor salivary gland	UBERON:0001830	86.73	gold quality
lung	UBERON:0002048	86.55	gold quality
caecum	UBERON:0001153	86.53	gold quality
lower esophagus muscularis layer	UBERON:0035833	86.47	gold quality
lower esophagus	UBERON:0013473	86.46	gold quality
tendon of biceps brachii	UBERON:0008188	86.43	gold quality
ascending aorta	UBERON:0001496	86.39	gold quality
granulocyte	CL:0000094	86.27	gold quality
apex of heart	UBERON:0002098	86.26	gold quality
lower esophagus mucosa	UBERON:0035834	86.24	gold quality
tendon	UBERON:0000043	86.14	gold quality
thoracic aorta	UBERON:0001515	86.14	gold quality
mouth mucosa	UBERON:0003729	86.07	gold quality
stomach	UBERON:0000945	85.95	gold quality
esophagus	UBERON:0001043	85.88	gold quality
thyroid gland	UBERON:0002046	85.58	gold quality
body of stomach	UBERON:0001161	85.56	gold quality
left lobe of thyroid gland	UBERON:0001120	85.55	gold quality
hindlimb stylopod muscle	UBERON:0004252	85.52	gold quality
left ventricle myocardium	UBERON:0006566	85.51	silver quality
fundus of stomach	UBERON:0001160	85.49	gold quality
female reproductive system	UBERON:0000474	85.47	gold quality
right lobe of thyroid gland	UBERON:0001119	85.38	gold quality
upper leg skin	UBERON:0004262	85.34	gold quality
metanephros cortex	UBERON:0010533	85.32	gold quality
saphenous vein	UBERON:0007318	85.31	gold quality
nipple	UBERON:0002030	85.30	gold quality
myometrium	UBERON:0001296	85.27	gold quality
esophagus mucosa	UBERON:0002469	85.18	gold quality
descending thoracic aorta	UBERON:0002345	85.12	gold quality
saliva-secreting gland	UBERON:0001044	85.11	gold quality
fallopian tube	UBERON:0003889	85.05	gold quality
right hemisphere of cerebellum	UBERON:0014890	85.05	gold quality
urinary bladder	UBERON:0001255	84.95	gold quality
cardiac atrium	UBERON:0002081	84.95	gold quality
muscle of leg	UBERON:0001383	84.90	gold quality
right atrium auricular region	UBERON:0006631	84.87	gold quality
cerebellar hemisphere	UBERON:0002245	84.85	gold quality
cerebellar cortex	UBERON:0002129	84.81	gold quality
oviduct epithelium	UBERON:0004804	84.80	gold quality
skin of hip	UBERON:0001554	84.74	gold quality
prostate gland	UBERON:0002367	84.73	gold quality
pancreatic ductal cell	CL:0002079	84.71	gold quality
gastrocnemius	UBERON:0001388	84.63	gold quality
gingival epithelium	UBERON:0001949	84.61	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

HPA expression

RNA tissue specificity: Low tissue specificity

showing 60 of 80 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM	Protein (IHC)
Nucleus accumbens	tissue	33.7
Hippocampus	tissue	29.1	medium
Locus coeruleus	tissue	26.7
Corpus callosum	tissue	23.4
Postcentral gyrus	tissue	23.2
Choroid plexus	tissue	21.0
Spinal cord	tissue	18.7
Substantia nigra	tissue	16.8
Medulla oblongata	tissue	15.5
Hypothalamus	tissue	15.3
Midbrain	tissue	14.9
Superior colliculi	tissue	14.4
Periaqueductal gray	tissue	13.9
Thalamus	tissue	13.7
Ventral forebrain	tissue	13.5
Olfactory bulb	tissue	13.5
Bone marrow	tissue	13.4	medium
Pons	tissue	13.1
Spleen	tissue	13.0	high
Septum	tissue	13.0
Hippocampal formation	tissue	12.8
Amygdala	tissue	12.5
Putamen	tissue	12.3
Cerebellum	tissue	11.7	medium
Cerebral cortex	tissue	11.6	medium
Insular cortex	tissue	11.6
Prefrontal cortex	tissue	11.5
Motor cortex	tissue	11.3
Entorhinal cortex	tissue	11.1
Retrosplenial cortex	tissue	11.1
Temporal cortex	tissue	10.8
Basal ganglia	tissue	10.7	medium
Somatosensory cortex	tissue	10.7
Retrosplenial and cingulate cortex	tissue	10.6
Occipital cortex	tissue	9.9
Skin 1	tissue	9.7	medium
Skeletal muscle	tissue	9.5	low
Parathyroid gland	tissue	9.3	high
Lymph node	tissue	8.7	high
Appendix	tissue	8.7	high
Adipose tissue	tissue	8.6	medium
Gallbladder	tissue	8.6	medium
Esophagus	tissue	8.5	medium
Small intestine	tissue	8.2	medium
Placenta	tissue	8.1	high
Ovary	tissue	7.3	high
Duodenum	tissue	7.2	medium
Stomach 1	tissue	7.1	medium
Salivary gland	tissue	7.1	medium
Endometrium 1	tissue	6.9	medium
Colon	tissue	6.8	high
Lung	tissue	6.6	high
Heart muscle	tissue	6.2	low
Smooth muscle	tissue	6.2	medium
Fallopian tube	tissue	6.2	medium
Vagina	tissue	5.9	medium
Caudate putamen	tissue	5.9
Seminal vesicle	tissue	5.6	medium
Pancreas	tissue	5.6	medium
Tongue	tissue	5.6

Brain sub-regions (HPA Brain Atlas): detected in 192; highest nTPM — Temporal white matter (41.1), Posterior thalamic nucleus (37.7), Flocculonodular lobe (37.4), Piriform cortex (37.4), Area postrema (37.2).

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

Targeting MIDEAS by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

showing 30 of 185 miRNAs:

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

Functional genomics

gnomAD constraint: pLI 1, LOEUF 0.374, missense Z 1.87 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD)

ENST00000423556 splits into 5 regions with different missense tolerance; 2 are missense-constrained (≈3% of the expected missense variation). Missense variants in a constrained region (low observed/expected) are more likely to be pathogenic. gnomAD

Region (GRCh38)	Missense obs / exp	o/e	Constrained
14:73,718,846–73,718,960	71 / 51.9	1.37	no
14:73,718,961–73,718,991	6 / 17.3	0.35	yes (p 6.5e-03)
14:73,718,992–73,729,720	391 / 483.0	0.81	no
14:73,729,721–73,729,780	5 / 27.4	0.18	yes (p 1.9e-05)
14:73,729,781–73,740,008	758 / 856.0	0.89	no

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)

Mouse-model phenotypes

Observed phenotypes of the mouse ortholog (MGI:2685106) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 7 distinct phenotype terms.

Mouse phenotype (MP)	Records
absent erythrocytes	1
abnormal heart shape	1
enlarged pericardium	1
heart hypoplasia	1
abnormal mitosis	1
fetal growth retardation	1
lethality throughout fetal growth and development, complete penetrance	1

Additional cross-species homologs

Sequence homologs in species beyond Ensembl Compara’s model organisms, by Diamond local protein alignment (% sequence identity; best hit per species). Lower-identity rows are more distant homologs. The matched accessions’ gene symbols aren’t in biobtree yet, so each row shows the UniProt accession.

Organism	UniProt	Identity	Method
Macaca fascicularis	Q4R2Z8	94.0%	Diamond
Gallus gallus	Q5ZKT9	85.2%	Diamond

Genomic neighbors (locus context)

Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).

Symbol	Type	Entrez
LINC02274	ncRNA	100506498
MIR4505	ncRNA	100616158
PTGR2	protein-coding	145482
MIDEAS-AS1	ncRNA	100506476
FAM161B	protein-coding	145483
ZNF410	protein-coding	57862
PNMA1	protein-coding	9240
HEATR4	protein-coding	399671
ACOT6	protein-coding	641372
DNAL1	protein-coding	83544

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	CoREST	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 by resolution:

PDB	Title	Method	Resolution (Å)
9R4I	An auto inhibitory loop in the MiDAC histone deacetylase complex	ELECTRON MICROSCOPY	2.92
6Z2J	The structure of the dimeric HDAC1/MIDEAS/DNTTIP1 MiDAC deacetylase complex	ELECTRON MICROSCOPY	4
6Z2K	The structure of the tetrameric HDAC1/MIDEAS/DNTTIP1 MiDAC deacetylase complex	ELECTRON MICROSCOPY	4.5

Predicted structure (AlphaFold)

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

Human Protein Atlas

Protein class: Predicted intracellular proteins, Transcription factors, Helix-turn-helix domains

Protein evidence: Evidence at protein level

Subcellular location (HPA, imaging): nucleoplasm

Antibody reliability (HPA): IH approved · IF enhanced

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)

Type	Positions
N-acetylmethionine	1
Asymmetric dimethylarginine	193
Omega-n-methylarginine	447
Phosphoserine	461, 661, 709, 923
Phosphothreonine	655, 704, 715
Glycyl lysine isopeptide (lys-gly) (interchain with g-cter in sumo2)	166, 590
Glycyl lysine isopeptide (lys-gly) (interchain with g-cter in sumo1)	590

Function

Pathways and Gene Ontology

Reactome pathways

0 curated (TAS) of 0; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

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 (5): chromatin organization (GO:0006325), DNA-templated transcription (GO:0006351), regulation of transcription by RNA polymerase II (GO:0006357), negative regulation of DNA-templated transcription (GO:0045892), regulation of embryonic development (GO:0045995)

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

21 GO namespaces:

Category	Terms
regulation of DNA-templated transcription	2
cellular component organization	1
gene expression	1
RNA biosynthetic process	1
transcription by RNA polymerase II	1
DNA-templated transcription	1
negative regulation of RNA biosynthetic process	1
embryo development	1
regulation of multicellular organismal development	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

Experimentally-supported GO annotations

GO terms backed by direct experimental evidence (ECO experimental codes) — 2 of 13 annotations. The rest are phylogenetic / computational / electronic (IEA).

2 experimentally-supported GO terms:

GO term	NS	Evidence
chromatin organization	BP	direct assay
nucleoplasm	CC	direct assay

Protein interactions and networks

STRING

showing 15 of 556 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MIDEAS	DNTTIP1	Q9H147	787
MIDEAS	KCTD19	Q17RG1	543
MIDEAS	RERE	Q9P2R6	472
MIDEAS	PHF21B	Q96EK2	459
MIDEAS	PBXIP1	Q96AQ6	442
MIDEAS	F2RL3	Q96RI0	389
MIDEAS	GPR15	P49685	384
MIDEAS	PLK1	P53350	370
MIDEAS	EGR1	P18146	369
MIDEAS	PHF21A	Q96BD5	364
MIDEAS	GLUL	P15104	358
MIDEAS	ZNF423	Q2M1K9	319
MIDEAS	SND1	Q7KZF4	318
MIDEAS	RBL2	Q08999	316
MIDEAS	EIF3F	O00303	315

IntAct

Human interaction partners of MIDEAS in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

2 partners by confidence:

Partner	Interaction type	MIscore	Records
SEC16A	association	0.350	1
MAPK14	physical association	0.000	1

Protein complexes (CORUM) (1)

Experimentally-characterized complexes this protein is a subunit of (★ = the complex contains a known drug target).

1 complexes by size:

Complex	Subunits	Members
★ MiDAC complex	4	DNTTIP1, HDAC1, HDAC2, MIDEAS

Disease & clinical

Genetic variants

Variant evidence for MIDEAS: 185 ClinVar records (0 pathogenic / likely pathogenic); 28 GWAS associations.

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	165
Likely benign	8
Benign	0

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 33 predictions of 1,156):

Position(s)	Effect	Δscore	Sites
14:73719409	donor_gain	1.0000
14:73719420	donor_gain	1.0000
14:73719502–73719503	acceptor_loss	1.0000	6
14:73722696–73722697	donor_loss	1.0000	5
14:73722849	acceptor_loss	1.0000
14:73722853	acceptor_gain	1.0000
14:73725270–73725271	donor_loss	1.0000	5
14:73725361–73725362	acceptor_loss	1.0000	5
14:73726031–73726032	donor_loss	1.0000	4
14:73726109–73726110	acceptor_loss	1.0000	4

AlphaMissense

1,643 missense substitutions predicted likely pathogenic (of 7,108 scored), across 388 residues. Top 20 hotspot residues, ranked by the number of likely-pathogenic substitutions (of those reachable by a single-nucleotide change), then by mean score:

Residue	Likely-pathogenic substitutions	Mean am_pathogenicity	Max am_pathogenicity
D851	8	0.997	1.000
F852	8	0.992	1.000
F841	8	0.990	1.000
S661	8	0.988	1.000
S632	8	0.985	1.000
H793	8	0.983	0.996
N724	8	0.973	0.999
F217	8	0.952	0.993
F221	8	0.946	0.994
F671	8	0.943	0.998
N787	8	0.934	0.997
H826	8	0.921	0.988
D831	8	0.916	0.960
D745	8	0.907	0.953
F618	8	0.887	0.984
H633	8	0.879	0.986
S779	8	0.858	0.996
H820	8	0.824	0.970
F853	8	0.822	0.980
F781	8	0.751	0.984

HPA cancer prognostics

RNA cancer specificity: Low cancer specificity

Human Protein Atlas survival analysis — favorable = higher expression predicts better survival.

1 prognostic cancer types:

Cancer	Prognostic	p-value
Kidney Renal Clear Cell Carcinoma (TCGA)	favorable	2.61e-06

Disease associations

OMIM: gene MIM:621074 | disease phenotypes:

GWAS associations

28 associations:

Study	Trait	p-value
GCST90002386_367	High light scatter reticulocyte percentage of red cells	9e-67
GCST90002406_584	Reticulocyte fraction of red cells	9e-66
GCST90002385_458	High light scatter reticulocyte count	9e-65
GCST90002405_362	Reticulocyte count	5e-62
GCST90002392_510	Mean corpuscular volume	3e-42
GCST90002387_26	Immature fraction of reticulocytes	1e-30
GCST90002386_366	High light scatter reticulocyte percentage of red cells	1e-27
GCST90002385_457	High light scatter reticulocyte count	4e-23
GCST004619_57	Reticulocyte fraction of red cells	2e-22
GCST004622_39	Reticulocyte count	2e-22
GCST009151_20	High density lipoprotein cholesterol levels	2e-22
GCST010241_35	Apolipoprotein A1 levels	2e-22
GCST90002406_583	Reticulocyte fraction of red cells	2e-22
GCST004611_49	High light scatter reticulocyte count	4e-22
GCST004612_173	High light scatter reticulocyte percentage of red cells	2e-21
GCST90002391_193	Mean corpuscular hemoglobin concentration	4e-21
GCST010242_481	HDL cholesterol levels	6e-20
GCST90002405_361	Reticulocyte count	4e-18
GCST90002390_188	Mean corpuscular hemoglobin	2e-16
GCST90002390_189	Mean corpuscular hemoglobin	2e-16
GCST90002384_394	Hemoglobin	9e-16
GCST004630_203	Mean corpuscular hemoglobin	8e-15
GCST010204_8	Low density lipoprotein cholesterol levels	4e-13
GCST90002404_149	Red cell distribution width	1e-11
GCST004628_152	Immature fraction of reticulocytes	6e-10
GCST010243_14	Apolipoprotein B levels	8e-10
GCST004615_129	Hemoglobin concentration	2e-9
GCST005790_4	Rosacea symptom severity	5e-6

EFO canonical traits (from GWAS)

10 canonical traits:

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 (CPIC guideline: no)

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, decreases expression, increases methylation	6
sodium arsenite	decreases expression, affects cotreatment, increases abundance, increases expression	4
trichostatin A	increases expression, affects cotreatment	2
Arsenic	increases expression, affects cotreatment, decreases expression, increases abundance	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	decreases expression, affects cotreatment	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)

Via MONDO — disease-level, not drug-specific.

Predicted chemistry — Sugi Predict

The predicted patent-compound landscape for MIDEAS across ~30M SureChEMBL compounds — explore on Sugi Predict.