MED26

Summary

MED26 (mediator complex subunit 26, HGNC:2376) is a protein-coding gene on chromosome 19p13.11, encoding Mediator of RNA polymerase II transcription subunit 26 (O95402). Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. It is a common-essential gene (DepMap: required in 92.3% of cancer cell lines).

The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with TFIID, is required for efficient activation by SP1. This protein is also a component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which interact with TR and facilitate TR function on DNA templates in conjunction with initiation factors and cofactors.

Source: NCBI Gene 9441 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 124 total
• Cancer dependency (DepMap): dependent in 92.3% of screened cell lines (common-essential)
• MANE Select transcript: NM_004831

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:2376
Approved symbol	MED26
Name	mediator complex subunit 26
Location	19p13.11
Locus type	gene with protein product
Status	Approved
Aliases	CRSP70
Ensembl gene	ENSG00000105085
Ensembl biotype	protein_coding
OMIM	605043
Entrez	9441

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 6 protein_coding, 1 retained_intron

ENST00000263390, ENST00000597244, ENST00000598492, ENST00000598608, ENST00000600060, ENST00000601478, ENST00000611692

RefSeq mRNA: 1 — MANE Select: NM_004831 NM_004831

CCDS: CCDS12347

Canonical transcript exons

ENST00000263390 — 3 exons

Exon	Start	End
ENSE00000873484	16574919	16577682
ENSE00003084594	16627872	16628204
ENSE00003515116	16578335	16578409

Expression profiles

Bgee: expression breadth ubiquitous, 248 present calls, max score 99.57.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 14.2494 / max 609.8672, expressed in 1808 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
179824	13.6359	1806
179825	0.5540	285
179823	0.0594	19

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sperm	CL:0000019	99.57	gold quality
amniotic fluid	UBERON:0000173	91.83	gold quality
buccal mucosa cell	CL:0002336	91.75	silver quality
tibialis anterior	UBERON:0001385	91.50	gold quality
nipple	UBERON:0002030	91.22	gold quality
upper arm skin	UBERON:0004263	91.02	silver quality
ileal mucosa	UBERON:0000331	90.84	gold quality
adult organism	UBERON:0007023	90.77	gold quality
left testis	UBERON:0004533	89.78	gold quality
right testis	UBERON:0004534	89.48	gold quality
secondary oocyte	CL:0000655	89.04	gold quality
testis	UBERON:0000473	89.04	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	88.45	gold quality
pancreatic ductal cell	CL:0002079	88.40	silver quality
thymus	UBERON:0002370	87.84	gold quality
parietal pleura	UBERON:0002400	87.71	silver quality
epithelium of nasopharynx	UBERON:0001951	87.37	gold quality
pharyngeal mucosa	UBERON:0000355	87.23	gold quality
trabecular bone tissue	UBERON:0002483	87.10	silver quality
cerebellar vermis	UBERON:0004720	87.00	gold quality
tibia	UBERON:0000979	86.90	gold quality
superior surface of tongue	UBERON:0007371	86.79	gold quality
lower lobe of lung	UBERON:0008949	86.44	gold quality
visceral pleura	UBERON:0002401	86.05	silver quality
trachea	UBERON:0003126	85.94	gold quality
palpebral conjunctiva	UBERON:0001812	85.58	gold quality
tongue	UBERON:0001723	85.52	gold quality
oocyte	CL:0000023	85.47	gold quality
cardia of stomach	UBERON:0001162	85.17	gold quality
bone marrow	UBERON:0002371	85.15	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.18

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

1 targets.

Target	Regulation
ANKRD37

miRNA regulators (miRDB)

157 targeting MED26, 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-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-574-5P	100.00	66.01	989
HSA-MIR-518D-5P	100.00	67.51	979
HSA-MIR-518E-5P	100.00	67.66	954
HSA-MIR-518F-5P	100.00	67.51	979
HSA-MIR-519A-5P	100.00	67.66	954
HSA-MIR-519B-5P	100.00	67.66	954
HSA-MIR-519C-5P	100.00	67.66	954
HSA-MIR-520C-5P	100.00	67.51	979
HSA-MIR-522-5P	100.00	67.66	954
HSA-MIR-523-5P	100.00	67.66	954
HSA-MIR-526A-5P	100.00	67.51	979
HSA-MIR-4510	100.00	66.60	2050
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-513B-5P	99.99	69.96	2150
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-6077	99.99	68.04	2299
HSA-MIR-3667-3P	99.99	67.17	1636
HSA-MIR-103A-3P	99.98	69.14	1595
HSA-MIR-107	99.98	69.14	1595
HSA-MIR-3692-3P	99.98	70.27	2139

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 92.3% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 5)

• Human CRSP interacts with RNA polymerase II CTD and adopts a specific CTD-bound conformation (PMID:12050112)
• findings identify MED19/MED26 as a probable composite REST interface in Mediator and further clarify the mechanistic basis by which Mediator facilitates REST-imposed epigenetic restrictions on neuronal gene expression (PMID:19049968)
• MED26 can function as a molecular switch that interacts first with TFIID in the Pol II initiation complex and then exchanges TFIID for complexes containing ELL/EAF and P-TEFb to facilitate transition of Pol II into the elongation stage of transcription. (PMID:21729782)
• the MED26-NTD functions as a molecular switch in the exchange of TBP-associated factor 7 (TAF7) for LEC to facilitate the transition from initiation to elongation during transcription of a subset of snRNA genes (PMID:25575120)
• EAF1 (239-268) and TAF7 (205-235) peptide interactions were both mapped to the same groove formed by H3 and H4 helices of MED26 N-terminal domain. (PMID:28893534)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
mus_musculus	Med26	ENSMUSG00000045248
rattus_norvegicus	Med26	ENSRNOG00000012270
drosophila_melanogaster	MED26	FBGN0039923

Protein

Protein identifiers

Mediator of RNA polymerase II transcription subunit 26 — O95402 (reviewed: O95402)

Alternative names: Activator-recruited cofactor 70 kDa component, Cofactor required for Sp1 transcriptional activation subunit 7, Mediator complex subunit 26, Transcriptional coactivator CRSP70

All UniProt accessions (5): O95402, M0QXW8, M0R064, M0R2P1, M0R2Y4

UniProt curated annotations — full annotation on UniProt →

Function. Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional pre-initiation complex with RNA polymerase II and the general transcription factors.

Subunit / interactions. Component of the Mediator complex, which is composed of MED1, MED4, MED6, MED7, MED8, MED9, MED10, MED11, MED12, MED13, MED13L, MED14, MED15, MED16, MED17, MED18, MED19, MED20, MED21, MED22, MED23, MED24, MED25, MED26, MED27, MED29, MED30, MED31, CCNC, CDK8 and CDC2L6/CDK11. The MED12, MED13, CCNC and CDK8 subunits form a distinct module termed the CDK8 module. Mediator containing the CDK8 module is less active than Mediator lacking this module in supporting transcriptional activation. Individual preparations of the Mediator complex lacking one or more distinct subunits have been variously termed ARC, CRSP, DRIP, PC2, SMCC and TRAP. Interacts with CEBPB (when not methylated).

Subcellular location. Nucleus.

Similarity. Belongs to the Mediator complex subunit 26 family.

Isoforms (2)

UniProt ID	Names	Canonical?
O95402-1	1	yes
O95402-2	2

RefSeq proteins (1): NP_004822* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003617	TFIIS/CRSP70_N_sub	Domain
IPR017923	TFIIS_N	Domain
IPR031416	Med26_C	Domain
IPR031417	Med26_Mid	Domain
IPR035441	TFIIS/LEDGF_dom_sf	Homologous_superfamily
IPR042376	MED26	Family

Pfam: PF08711, PF15693, PF15694

UniProt features (32 total): helix 7, compositionally biased region 5, turn 4, modified residue 3, sequence conflict 3, region of interest 3, strand 3, splice variant 2, chain 1, domain 1

Structure

Experimental structures (PDB)

8 structures.

PDB	Method	Resolution (Å)
7EMF	ELECTRON MICROSCOPY	3.5
7ENA	ELECTRON MICROSCOPY	4.07
7ENC	ELECTRON MICROSCOPY	4.13
8GXS	ELECTRON MICROSCOPY	4.16
7ENJ	ELECTRON MICROSCOPY	4.4
8GXQ	ELECTRON MICROSCOPY	5.04
5ODD	SOLUTION NMR
6ZV3	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O95402-F1	59.00	0.09

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 (3): 447, 470, 535

Function

Pathways and Gene Ontology

Reactome pathways

15 pathways

ID	Pathway
R-HSA-1989781	PPARA activates gene expression
R-HSA-212436	Generic Transcription Pathway
R-HSA-381340	Transcriptional regulation of white adipocyte differentiation
R-HSA-9833110	RSV-host interactions
R-HSA-1266738	Developmental Biology
R-HSA-1430728	Metabolism
R-HSA-1643685	Disease
R-HSA-400206	Regulation of lipid metabolism by PPARalpha
R-HSA-556833	Metabolism of lipids
R-HSA-5663205	Infectious disease
R-HSA-73857	RNA Polymerase II Transcription
R-HSA-74160	Gene expression (Transcription)
R-HSA-9820952	Respiratory Syncytial Virus Infection Pathway
R-HSA-9824446	Viral Infection Pathways
R-HSA-9843745	Adipogenesis

MSigDB gene sets: 165 (showing top): REACTOME_TRANSCRIPTIONAL_REGULATION_OF_WHITE_ADIPOCYTE_DIFFERENTIATION, FXR_IR1_Q6, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, CMYB_01, GOBP_POSITIVE_REGULATION_OF_DNA_TEMPLATED_TRANSCRIPTION_INITIATION, AREB6_03, TGACCTY_ERR1_Q2, GATA3_01, GATA1_01, GOBP_REGULATION_OF_DNA_TEMPLATED_TRANSCRIPTION_INITIATION, RYTAAWNNNTGAY_UNKNOWN, GOBP_DNA_TEMPLATED_TRANSCRIPTION_INITIATION, GOBP_TRANSCRIPTION_INITIATION_AT_RNA_POLYMERASE_II_PROMOTER, LYF1_01, RYTTCCTG_ETS2_B

GO Biological Process (6): regulation of transcription by RNA polymerase II (GO:0006357), transcription initiation at RNA polymerase II promoter (GO:0006367), positive regulation of gene expression (GO:0010628), positive regulation of transcription elongation by RNA polymerase II (GO:0032968), RNA polymerase II preinitiation complex assembly (GO:0051123), positive regulation of transcription initiation by RNA polymerase II (GO:0060261)

GO Molecular Function (3): transcription coregulator activity (GO:0003712), transcription coactivator activity (GO:0003713), protein binding (GO:0005515)

GO Cellular Component (4): nucleus (GO:0005634), nucleoplasm (GO:0005654), mediator complex (GO:0016592), core mediator complex (GO:0070847)

Reactome top-level categories

Rollup of top-11 pathways:

Category	Pathways
Regulation of lipid metabolism by PPARalpha	1
RNA Polymerase II Transcription	1
Adipogenesis	1
Respiratory Syncytial Virus Infection Pathway	1
Metabolism of lipids	1
Metabolism	1
Disease	1
Gene expression (Transcription)	1
Viral Infection Pathways	1
Infectious disease	1
Developmental Biology	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
transcription by RNA polymerase II	2
positive regulation of transcription by RNA polymerase II	2
transcription initiation at RNA polymerase II promoter	2
regulation of DNA-templated transcription	1
DNA-templated transcription initiation	1
gene expression	1
regulation of gene expression	1
positive regulation of macromolecule biosynthetic process	1
transcription elongation by RNA polymerase II	1
positive regulation of DNA-templated transcription, elongation	1
regulation of transcription elongation by RNA polymerase II	1
transcription preinitiation complex assembly	1
regulation of transcription initiation by RNA polymerase II	1
positive regulation of DNA-templated transcription initiation	1
transcription regulator activity	1
transcription coregulator activity	1
positive regulation of DNA-templated transcription	1
binding	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
cellular anatomical structure	1
core mediator complex	1
nuclear protein-containing complex	1
RNA polymerase II transcription regulator complex	1

Protein interactions and networks

STRING

1650 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MED26	ELL	P55199	915
MED26	MED19	A0JLT2	914
MED26	MED14	O60244	902
MED26	MED7	O43513	872
MED26	TBP	P20226	870
MED26	MED30	Q96HR3	860
MED26	MED22	Q15528	855
MED26	MED17	Q9NVC6	842
MED26	MED12	Q93074	840
MED26	CDK8	P49336	837
MED26	MED13	Q9UHV7	823
MED26	MED10	Q9BTT4	822
MED26	MED31	Q9Y3C7	821
MED26	MED27	Q6P2C8	811
MED26	CCNC	P24863	808
MED26	MED23	Q9ULK4	808

IntAct

116 interactions, top by confidence:

A	B	Type	Score
MED10	MED19	psi-mi:“MI:0914”(association)	0.910
MED10	MED19	psi-mi:“MI:0915”(physical association)	0.910
MED4	MED26	psi-mi:“MI:0915”(physical association)	0.910
CDK8	MED14	psi-mi:“MI:0914”(association)	0.900
MED4	MED19	psi-mi:“MI:2364”(proximity)	0.900
MED4	MED19	psi-mi:“MI:0914”(association)	0.900
MED29	MED19	psi-mi:“MI:0914”(association)	0.890
MED21	MED19	psi-mi:“MI:0914”(association)	0.880
MED10	MED24	psi-mi:“MI:0914”(association)	0.870
MED26	MED7	psi-mi:“MI:0914”(association)	0.860
MED7	MED26	psi-mi:“MI:0915”(physical association)	0.860
MED18	MED19	psi-mi:“MI:0914”(association)	0.840
MED31	MED19	psi-mi:“MI:0914”(association)	0.840
MED7	MED19	psi-mi:“MI:0914”(association)	0.840
MED11	MED19	psi-mi:“MI:0914”(association)	0.840

BioGRID (276): MED26 (Affinity Capture-MS), MED26 (Affinity Capture-MS), MED26 (Affinity Capture-MS), MED26 (Proximity Label-MS), MED26 (Affinity Capture-MS), MED26 (Proximity Label-MS), MED26 (Affinity Capture-MS), MED26 (Affinity Capture-MS), MED26 (Affinity Capture-MS), MED26 (Affinity Capture-MS), MED26 (Reconstituted Complex), MED26 (Affinity Capture-Western), MED26 (Affinity Capture-MS), MED26 (Affinity Capture-MS), MED26 (Affinity Capture-MS)

ESM2 similar proteins: A0JLT2, A4QNZ7, A5PK23, B1AZP2, F5HSE3, O60293, O75420, O95402, P61129, P78312, P97839, Q03111, Q07FY3, Q08C81, Q08DM1, Q174D3, Q1LVC2, Q32NP7, Q3T044, Q4G0F8, Q5EAY2, Q5F368, Q5R8Q8, Q5U2R6, Q6DD45, Q6DRL8, Q6PEI3, Q7TN02, Q80Z38, Q8C1B1, Q8C1S0, Q8CFT2, Q8CGI1, Q8IVL1, Q8K4J6, Q90YL3, Q90YY5, Q969V6, Q96A73, Q99MR1

Diamond homologs: A5PK23, O95402, P10711, P23193, Q29CV2, Q29RL9, Q4KLL0, Q63799, Q7TN02, Q90YL3, Q90YY5, Q9QVN7, Q9V4F9, Q15560, B0UYI1, O75764, P07273, P0C8F5, P0C8F6, P0C8F7, P0C8F8, P20232, P23881, P27948, P49373, P52652, Q04307, Q07271, Q14241, Q148K0, Q2KI09, Q2M2S7, Q3US16, Q54YG9, Q56254, Q5UQS8, Q6GZP4, Q8N8B7, Q92576, Q9CQZ7

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
MED26	“form complex”	“Core mediator complex”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 55 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
Respiratory Syncytial Virus Infection Pathway	23	105.3×	2e-41
FGFR2 mutant receptor activation	5	88.5×	8e-09
Signaling by FGFR2 IIIa TM	6	83.9×	3e-10
RSV-host interactions	23	83.7×	3e-39
Adipogenesis	23	83.7×	3e-39
Regulation of lipid metabolism by PPARalpha	23	75.4×	5e-38
Epigenetic regulation of adipogenesis genes by MLL3 and MLL4 complexes	14	70.2×	5e-22
Transcriptional regulation of white adipocyte differentiation	23	69.4×	3e-37

GO biological processes:

GO term	Partners	Fold	FDR
positive regulation of transcription elongation by RNA polymerase II	23	150.5×	6e-45
RNA polymerase II preinitiation complex assembly	23	135.9×	4e-44
positive regulation of transcription initiation by RNA polymerase II	23	135.9×	4e-44
transcription initiation at RNA polymerase II promoter	8	65.1×	1e-11
somatic stem cell population maintenance	10	53.9×	8e-14
transcription by RNA polymerase II	10	15.3×	2e-08
protein ubiquitination	10	9.0×	3e-06

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	113
Likely benign	5
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

791 predictions. Top by Δscore:

Variant	Effect	Δscore
19:16577680:TTCCT:T	acceptor_loss	1.0000
19:16577681:TCC:T	acceptor_loss	1.0000
19:16577683:C:CA	acceptor_loss	1.0000
19:16577684:T:G	acceptor_loss	1.0000
19:16577690:C:CT	acceptor_gain	1.0000
19:16578331:TCA:T	donor_loss	1.0000
19:16578331:TCAC:T	donor_loss	1.0000
19:16578332:CA:C	donor_loss	1.0000
19:16578333:A:AC	donor_gain	1.0000
19:16578333:AC:A	donor_gain	1.0000
19:16578333:ACCT:A	donor_gain	1.0000
19:16578334:C:CC	donor_gain	1.0000
19:16578334:C:CG	donor_gain	1.0000
19:16578334:CC:C	donor_gain	1.0000
19:16578334:CCT:C	donor_gain	1.0000
19:16578334:CCTC:C	donor_gain	1.0000
19:16578334:CCTCA:C	donor_gain	1.0000
19:16578405:CGGAT:C	acceptor_gain	1.0000
19:16578406:GGAT:G	acceptor_gain	1.0000
19:16578407:GAT:G	acceptor_gain	1.0000
19:16578407:GATC:G	acceptor_loss	1.0000
19:16578408:AT:A	acceptor_gain	1.0000
19:16578408:ATC:A	acceptor_loss	1.0000
19:16578409:TC:T	acceptor_loss	1.0000
19:16578410:C:CA	acceptor_loss	1.0000
19:16578410:C:CC	acceptor_gain	1.0000
19:16578412:G:C	acceptor_gain	1.0000
19:16578412:G:GC	acceptor_gain	1.0000
19:16578418:A:AC	acceptor_gain	1.0000
19:16578418:A:C	acceptor_gain	1.0000

AlphaMissense

3882 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:16577592:A:G	W80R	1.000
19:16577592:A:T	W80R	1.000
19:16577649:G:T	R61S	1.000
19:16576104:A:G	W576R	0.999
19:16576104:A:T	W576R	0.999
19:16576529:A:G	I434T	0.999
19:16576549:A:C	F427L	0.999
19:16576549:A:T	F427L	0.999
19:16576551:A:G	F427L	0.999
19:16577590:C:A	W80C	0.999
19:16577590:C:G	W80C	0.999
19:16577612:G:T	A73D	0.999
19:16577651:A:T	V60D	0.999
19:16577660:A:T	I57N	0.999
19:16577669:C:T	G54E	0.999
19:16577670:C:G	G54R	0.999
19:16577670:C:T	G54R	0.999
19:16578339:A:G	L48P	0.999
19:16578339:A:T	L48H	0.999
19:16627900:A:G	L15P	0.999
19:16576102:C:A	W576C	0.998
19:16576102:C:G	W576C	0.998
19:16576529:A:C	I434S	0.998
19:16576550:A:G	F427S	0.998
19:16577591:C:G	W80S	0.998
19:16577603:A:G	L76P	0.998
19:16577608:C:A	K74N	0.998
19:16577608:C:G	K74N	0.998
19:16577613:C:G	A73P	0.998
19:16577648:C:G	R61P	0.998

dbSNP variants (sampled 300 via entrez): RS1000055623 (19:16583098 T>C), RS1000134506 (19:16624194 C>A,T), RS1000141752 (19:16609293 C>A,G), RS1000196851 (19:16611566 T>C,G), RS1000241311 (19:16618170 C>T), RS1000245098 (19:16629329 G>C,T), RS1000311726 (19:16576040 A>G), RS1000320619 (19:16581722 T>C), RS1000355095 (19:16611983 A>C), RS1000373139 (19:16581430 C>A), RS1000514865 (19:16609585 T>A), RS1000534281 (19:16613081 A>G), RS1000549961 (19:16575224 G>T), RS1000619860 (19:16576206 C>A), RS1000656990 (19:16580402 CTT>C)

Disease associations

OMIM: gene MIM:605043 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST008595_225	Cognitive ability, years of educational attainment or schizophrenia (pleiotropy)	2.000000e-08

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004337	intelligence
EFO:0004784	self reported educational attainment

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Acetaminophen	decreases expression, increases expression	3
bisphenol A	decreases methylation, affects cotreatment, increases expression	2
Formaldehyde	decreases expression, increases expression	2
Quercetin	increases expression, increases phosphorylation	2
Tobacco Smoke Pollution	increases expression	2
aristolochic acid I	increases expression	1
FR900359	affects phosphorylation	1
urushiol	decreases expression	1
triphenyl phosphate	affects expression	1
sodium arsenite	increases expression	1
butyraldehyde	increases expression	1
potassium chromate(VI)	affects cotreatment, increases expression	1
aflatoxin B2	increases methylation	1
coumarin	increases phosphorylation	1
epigallocatechin gallate	increases expression, affects cotreatment	1
abrine	increases expression	1
PCI 5002	affects cotreatment, increases expression	1
Arsenic	affects methylation	1
Atrazine	decreases expression	1
Benzo(a)pyrene	affects methylation	1
Caffeine	decreases phosphorylation	1
Dexamethasone	affects cotreatment, increases expression	1
Diazinon	increases methylation	1
Enzyme Inhibitors	decreases activity, increases O-linked glycosylation	1
Indomethacin	affects cotreatment, increases expression	1
Phthalic Acids	increases methylation	1
Plant Oils	increases expression	1
Smoke	decreases expression	1
Thiram	increases expression	1
Urethane	increases expression	1

Clinical trials (associated diseases)

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