MEF2B

Summary

MEF2B (myocyte enhancer factor 2B, HGNC:6995) is a protein-coding gene on chromosome 19p13.11, encoding Myocyte-specific enhancer factor 2B (Q02080). Transcriptional activator which binds specifically to the MEF2 element, 5’-YTAATTAR-3’, found in numerous muscle-specific genes.

The product of this gene is a member of the MADS/MEF2 family of DNA binding proteins. The protein is thought to regulate gene expression, including expression of the smooth muscle myosin heavy chain gene. This region undergoes considerable alternative splicing, with transcripts supporting two non-overlapping loci (GeneID 729991 and 100271849) as well as numerous read-through transcripts that span both loci (annotated as GeneID 4207). Several isoforms of this protein are expressed from either this locus or from some of the read-through transcripts annotated on GeneID 4207.

Source: NCBI Gene 100271849 — RefSeq curated summary.

At a glance

• GWAS associations: 11
• Clinical variants (ClinVar): 1 total
• Cancer driver (intOGen): loss-of-function (tumor-suppressor-like) across 3 cancer types
• MANE Select transcript: NM_001145785

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:6995
Approved symbol	MEF2B
Name	myocyte enhancer factor 2B
Location	19p13.11
Locus type	gene with protein product
Status	Approved
Aliases	RSRFR2
Ensembl gene	ENSG00000213999
Ensembl biotype	protein_coding
OMIM	600661
Entrez	100271849

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 6 protein_coding

ENST00000409224, ENST00000409447, ENST00000410050, ENST00000424583, ENST00000444486, ENST00000892131

RefSeq mRNA: 3 — MANE Select: NM_001145785 NM_001145785, NM_001367282, NM_005919

CCDS: CCDS46024

Canonical transcript exons

ENST00000424583 — 9 exons

Exon	Start	End
ENSE00001576673	19170205	19170263
ENSE00003696817	19146273	19146384
ENSE00003697348	19146555	19146648
ENSE00003697692	19147698	19147832
ENSE00003698017	19146742	19146875
ENSE00003698609	19147036	19147183
ENSE00003701648	19149226	19149429
ENSE00003848231	19145567	19146022
ENSE00003858426	19150682	19150764

Expression profiles

Bgee: expression breadth ubiquitous, 131 present calls, max score 84.71.

FANTOM5 (CAGE): breadth broad, TPM avg 2.3336 / max 629.0621, expressed in 229 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
180128	22.6054	1810
180127	2.3193	228
180126	0.0143	4

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	84.71	gold quality
lymph node	UBERON:0000029	84.53	gold quality
blood	UBERON:0000178	81.27	gold quality
lower esophagus mucosa	UBERON:0035834	80.38	gold quality
granulocyte	CL:0000094	80.26	gold quality
spleen	UBERON:0002106	79.66	gold quality
vermiform appendix	UBERON:0001154	79.19	gold quality
mucosa of transverse colon	UBERON:0004991	77.28	gold quality
endocervix	UBERON:0000458	76.79	gold quality
right uterine tube	UBERON:0001302	76.38	gold quality
ectocervix	UBERON:0012249	75.52	gold quality
left ovary	UBERON:0002119	75.29	gold quality
body of uterus	UBERON:0009853	74.94	gold quality
right ovary	UBERON:0002118	74.89	gold quality
left uterine tube	UBERON:0001303	74.87	gold quality
tonsil	UBERON:0002372	74.12	gold quality
skin of leg	UBERON:0001511	74.07	gold quality
skin of abdomen	UBERON:0001416	74.04	gold quality
right coronary artery	UBERON:0001625	74.04	gold quality
bone marrow cell	CL:0002092	73.99	gold quality
myometrium	UBERON:0001296	73.96	gold quality
uterine cervix	UBERON:0000002	73.91	gold quality
right lobe of liver	UBERON:0001114	73.91	gold quality
ovary	UBERON:0000992	73.89	gold quality
zone of skin	UBERON:0000014	73.80	gold quality
mucosa of stomach	UBERON:0001199	73.48	gold quality
apex of heart	UBERON:0002098	73.02	gold quality
transverse colon	UBERON:0001157	73.00	gold quality
prostate gland	UBERON:0002367	73.00	gold quality
vagina	UBERON:0000996	72.98	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-GEOD-139324	yes	588.36
E-CURD-122	yes	18.05
E-ANND-3	no	2.06
E-CURD-11	no	0.66

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

7 targets.

Target	Regulation
AXL
BCL6	Unknown
JUN	Activation
MYH11	Activation
NOX1	Unknown
RHD
SOST

JASPAR motifs

Motif	Name	Family
MA0660.1	MEF2B	Regulators of differentiation

JASPAR matrix evidence (PMIDs): PMID:9430690

miRNA regulators (miRDB)

8 targeting MEF2B, 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-8485	100.00	77.57	4731
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-MIR-3941	99.86	70.54	2735
HSA-MIR-6745	99.74	65.33	1321
HSA-MIR-4719	99.73	72.10	3329
HSA-MIR-363-5P	99.46	64.51	1015
HSA-MIR-4752	98.71	68.04	833
HSA-MIR-3943	95.87	64.57	523

Literature-anchored findings (GeneRIF, showing 25)

• Crystal structure of the MADS-box/MEF2S domain of human MEF2B bound to a motif of the transcriptional co-repressor Cabin1 and DNA at 2.2 A resolution (PMID:12700764)
• myogenin and myocyte enhancer factor-2 expression are triggered by membrane hyperpolarization during human myoblast differentiation (PMID:15084602)
• The crystal structure of a histone deacetylase 9 (HDAC9)/myocyte enhancer factor-2 (MEF2)/DNA complex reveals that HDAC9 binds to a hydrophobic groove of the MEF2 dimer. (PMID:15567413)
• Study demonstrates that human intestinal cell BCMO1 expression is dependent on the functional cooperation between peroxisome proliferator-activated receptor-gamma and myocyte enhancer factor 2 isoforms. (PMID:16504037)
• MEF2 proteins are an important component in Galpha13-mediated angiogenesis. (PMID:19093215)
• 32% of diffuse large B-cell lymphoma and 89% of follicular lymphoma cases had somatic mutations in MLL2, and 11.4% and 13.4% of DLBCL and FL cases, respectively, had mutations in MEF2B (PMID:21796119)
• The phylogenetic tree result shows that MEF2B may be original because of its difference of sequences and evolutional relation. (PMID:21951798)
• MEF2B has a role in myogenic transformation of the epithelial to a myofibroblast phenotype (PMID:22302709)
• MEF2B mutations lead to deregulated expression of the oncogene BCL6 in diffuse large B cell lymphoma. (PMID:23974956)
• We conclude that MEF2B is a valuable marker of normal germinal center B cells, potentially useful in differential diagnosis of small B cell lymphomas. (PMID:26089142)
• K4E, Y69H and D83V mutations decrease the capacity of MEF2B to activate transcription and decrease its effects on cell migration. (PMID:26245647)
• Epstein-Barr Virus EBNA1 bound to host genes of high significance for B-cell growth and function, including MEF2B, IL6R, and EBF1. (PMID:26468528)
• Expression of J chain immunoglobulin and MEF2B are useful in differentiating classical Hodgkin lymphoma from nodular lymphocyte predominant Hodgkin lymphoma and primary mediastinal large B-cell lymphoma. (PMID:28851661)
• MEF2B shows superior sensitivity and specificity than LMO2 and HGAL in the differential diagnosis of follicular lymphoma versus marginal zone lymphoma and is particularly useful in FL with plasmacytoid differentiation, which may have morphologic and immunophenotypic overlap with MZL. (PMID:29309299)
• Although the mechanisms by which the D83V mutation in MEF2B promote oncogenesis in lymphoma cells remain to be elucidated, the observation that a mutation hotspot coincides with a conformation switch site on MEF2B reflects a remarkable convergence of tumor growth selection pressure and the physical/ chemical forces behind protein folding. (PMID:29477338)
• The Apo structure of MEF2B reveals a largely preformed DNA binding interface that may be important for recognizing the shape of DNA from the minor groove side. (PMID:29944822)
• Mef2b deletion reduces germinal center (GC) formation in mice and identify MEF2B transcriptional targets in GC, with roles in cell proliferation, apoptosis, GC confinement, and differentiation. The most common lymphoma-associated MEF2B mutant (MEF2BD83V) is hypomorphic yet escapes binding and negative regulation by components of the HUCA complex and class IIa HDACs. (PMID:30205047)
• Studied expression of myocyte enhancer factor 2B (MEF2B) as part of the diffuse large (DLBCL) B-cell lymphoma 6 (BCL6) transcription complex in diffuse large B-cell lymphoma tissue samples and cell lines. Findings indicate MEF2B to be an essential component of the BCL6 gene transcriptional complex for the regulation of DLBCL growth thru promotion of BCL6 expression. (PMID:30446717)
• Convergent Evidence From Humans and Drosophila melanogaster Implicates the Transcription Factor MEF2B/Mef2 in Alcohol Sensitivity. (PMID:31241765)
• expression of MEF2B in mantle cell lymphomas is related to the pathological subtypes (PMID:31914533)
• Crystal Structures of Ternary Complexes of MEF2 and NKX2-5 Bound to DNA Reveal a Disease Related Protein-Protein Interaction Interface. (PMID:32681840)
• Landscape of DNA binding signatures of myocyte enhancer factor-2B reveals a unique interplay of base and shape readout. (PMID:32738045)
• Systematic transition modeling analysis in the MEF2B-DNA binding interface due to Y69H and K4E variants. (PMID:34418874)
• The Genetic Landscape of Ocular Adnexa MALT Lymphoma Reveals Frequent Aberrations in NFAT and MEF2B Signaling Pathways. (PMID:35528192)
• MEF2B C-terminal mutations enhance transcriptional activity and stability to drive B cell lymphomagenesis. (PMID:39179580)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	mef2b	ENSDARG00000093170
mus_musculus	Mef2b	ENSMUSG00000079033
rattus_norvegicus	Mef2b	ENSRNOG00000020400

Paralogs (4): MEF2A (ENSG00000068305), MEF2C (ENSG00000081189), SRF (ENSG00000112658), MEF2D (ENSG00000116604)

Protein

Protein identifiers

Myocyte-specific enhancer factor 2B — Q02080 (reviewed: Q02080)

Alternative names: RSRFR2, Serum response factor-like protein 2

All UniProt accessions (4): B3KQ23, B8ZZJ5, C9J4J4, Q02080

UniProt curated annotations — full annotation on UniProt →

Function. Transcriptional activator which binds specifically to the MEF2 element, 5’-YTAATTAR-3’, found in numerous muscle-specific genes. Activates transcription via this element. May be involved in muscle-specific and/or growth factor-related transcription.

Subunit / interactions. Interacts with HDAC7. Heterodimer. Interacts with HDAC9.

Subcellular location. Nucleus.

Tissue specificity. Expressed in skeletal and cardiac muscle and brain.

Similarity. Belongs to the MEF2 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q02080-1	1	yes
Q02080-2	2

RefSeq proteins (3): NP_001139257, NP_001354211, NP_005910 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002100	TF_MADSbox	Domain
IPR033896	MEF2-like_N	Domain
IPR036879	TF_MADSbox_sf	Homologous_superfamily

Pfam: PF00319

UniProt features (19 total): compositionally biased region 5, helix 3, strand 3, region of interest 3, chain 1, domain 1, splice variant 1, sequence conflict 1, DNA-binding region 1

Structure

Experimental structures (PDB)

7 structures.

PDB	Method	Resolution (Å)
6WC2	X-RAY DIFFRACTION	2.1
1N6J	X-RAY DIFFRACTION	2.2
6BYY	X-RAY DIFFRACTION	2.3
6C9L	X-RAY DIFFRACTION	2.3
1TQE	X-RAY DIFFRACTION	2.7
6WC5	X-RAY DIFFRACTION	2.9
6BZ1	X-RAY DIFFRACTION	2.97

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q02080-F1	62.25	0.27

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-525793	Myogenesis
R-HSA-1266738	Developmental Biology

MSigDB gene sets: 69 (showing top): TGCGCANK_UNKNOWN, GOBP_MUSCLE_STRUCTURE_DEVELOPMENT, AACTTT_UNKNOWN, SAKAI_CHRONIC_HEPATITIS_VS_LIVER_CANCER_DN, GOBP_CIRCULATORY_SYSTEM_DEVELOPMENT, TAATTA_CHX10_01, GOCC_TRANSCRIPTION_REGULATOR_COMPLEX, SASAKI_TARGETS_OF_TP73_AND_TP63, chr19p13, SCGGAAGY_ELK1_02, GOMF_PROTEIN_DIMERIZATION_ACTIVITY, GOMF_HISTONE_DEACETYLASE_BINDING, RIZ_ERYTHROID_DIFFERENTIATION_6HR, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, SWEET_LUNG_CANCER_KRAS_UP

GO Biological Process (5): heart development (GO:0007507), muscle organ development (GO:0007517), cell differentiation (GO:0030154), positive regulation of transcription by RNA polymerase II (GO:0045944), animal organ development (GO:0048513)

GO Molecular Function (10): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA-binding transcription activator activity, RNA polymerase II-specific (GO:0001228), DNA-binding transcription factor activity (GO:0003700), histone deacetylase binding (GO:0042826), protein dimerization activity (GO:0046983), sequence-specific double-stranded DNA binding (GO:1990837), RNA polymerase II transcription regulatory region sequence-specific DNA binding (GO:0000977), DNA binding (GO:0003677), protein binding (GO:0005515)

GO Cellular Component (6): chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654), transcription regulator complex (GO:0005667), cytosol (GO:0005829), cell junction (GO:0030054)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Developmental Biology	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
RNA polymerase II transcription regulatory region sequence-specific DNA binding	3
animal organ development	2
regulation of transcription by RNA polymerase II	2
transcription cis-regulatory region binding	2
circulatory system development	1
muscle structure development	1
cellular developmental process	1
transcription by RNA polymerase II	1
positive regulation of DNA-templated transcription	1
anatomical structure development	1
cis-regulatory region sequence-specific DNA binding	1
chromatin	1
DNA-binding transcription factor activity	1
DNA-binding transcription factor activity, RNA polymerase II-specific	1
DNA-binding transcription activator activity	1
positive regulation of transcription by RNA polymerase II	1
regulation of DNA-templated transcription	1
transcription regulator activity	1
enzyme binding	1
protein binding	1
double-stranded DNA binding	1
sequence-specific DNA binding	1
nucleic acid binding	1
binding	1
chromosome	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
protein-containing complex	1
cytoplasm	1

Protein interactions and networks

STRING

1320 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MEF2B	CABIN1	Q9Y6J0	875
MEF2B	RFXANK	O14593	795
MEF2B	NCAN	O14594	746
MEF2B	MYOG	P15173	732
MEF2B	CREBBP	Q92793	628
MEF2B	HDAC9	Q9UKV0	619
MEF2B	CARD11	Q9BXL7	599
MEF2B	BCL6	P41182	593
MEF2B	KMT2D	O14686	572
MEF2B	BORCS8	Q96FH0	551
MEF2B	EP300	Q09472	546
MEF2B	GNA13	Q14344	518
MEF2B	MEF2A	Q02078	515
MEF2B	EZH2	Q15910	513
MEF2B	MAPK13	O15264	511

IntAct

15 interactions, top by confidence:

A	B	Type	Score
MEF2B	CABIN1	psi-mi:“MI:0915”(physical association)	0.760
HDAC4	MEF2B	psi-mi:“MI:0915”(physical association)	0.560
MEF2B	TEKT4	psi-mi:“MI:0915”(physical association)	0.560
	MEF2B	psi-mi:“MI:0915”(physical association)	0.520
CABIN1		psi-mi:“MI:0915”(physical association)	0.400
MEF2B	CDC37	psi-mi:“MI:0915”(physical association)	0.400
MEF2B	MEF2A	psi-mi:“MI:0914”(association)	0.350
HDAC4	MEF2B	psi-mi:“MI:0915”(physical association)	0.000
TEKT4	MEF2B	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (29): TEX11 (Two-hybrid), TEX11 (Affinity Capture-Western), MEF2B (Affinity Capture-MS), MEF2BNB-MEF2B (Affinity Capture-MS), MEF2A (Affinity Capture-MS), MEF2D (Affinity Capture-MS), MEF2C (Affinity Capture-MS), CABIN1 (Affinity Capture-MS), UBN2 (Affinity Capture-MS), CABIN1 (Co-crystal Structure), HDAC4 (Two-hybrid), AGR2 (Two-hybrid), MESDC2 (Two-hybrid), TEX11 (Two-hybrid), TEKT4 (Two-hybrid)

ESM2 similar proteins: A0A0U1RRK4, A0A1B0GVZ6, A0A1W2PPE3, A0A1W2PR82, A0A2R8Y2Y2, A0A2Z4LIS9, A0A494C0N9, A0A494C0Y3, A5A752, A5PKC7, A6NDZ8, A6NE82, A6NEL2, A6NJ08, A6NJI1, A6QP24, A6QPM6, A8MTW9, A8MXV6, A8MYA2, B1ARW8, O35182, O43541, O75474, O75638, O89113, O94850, P0C7X2, P24097, P50617, P70339, Q02080, Q2KID8, Q2KIS6, Q3UN58, Q5JPB2, Q63003, Q6NZ36, Q6UYE1, Q6ZSJ8

Diamond homologs: A0A096MJY4, A0A217EJJ0, A0A3Q7EKL1, A2IB53, A2ICN5, A2VDZ3, A4UTP7, A9YDN6, B0XYE0, B4YPV4, B4YPW6, D7KQR8, D7KWY6, D7SMN6, F6I457, G4MWZ7, I1GN76, O22328, O55087, O65874, O89038, P0C5B0, P0C5B1, P0DI14, P29381, P29385, P29386, P35631, P38128, P40791, Q02078, Q02080, Q03413, Q03414, Q03489, Q06413, Q0J466, Q10CQ1, Q12224, Q14814

SIGNOR signaling

0 interactions.

Disease & clinical

Cancer significance

From intOGen — cancer-driver classification: loss-of-function (tumor-suppressor-like) across 3 cancer types — DLBCLNOS, MLYM, NHL.

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

2702 predictions. Top by Δscore:

Variant	Effect	Δscore
19:19146020:CCA:C	acceptor_gain	1.0000
19:19146021:CAC:C	acceptor_gain	1.0000
19:19146023:C:CC	acceptor_gain	1.0000
19:19146647:CT:C	acceptor_gain	1.0000
19:19146649:C:CC	acceptor_gain	1.0000
19:19146651:G:C	acceptor_gain	1.0000
19:19146651:G:GC	acceptor_gain	1.0000
19:19146654:C:CT	acceptor_gain	1.0000
19:19146740:A:AC	donor_gain	1.0000
19:19146741:C:CC	donor_gain	1.0000
19:19146894:C:CT	acceptor_gain	1.0000
19:19147031:CTCA:C	donor_loss	1.0000
19:19147033:CA:C	donor_loss	1.0000
19:19147180:CAGG:C	acceptor_gain	1.0000
19:19147182:GG:G	acceptor_gain	1.0000
19:19147183:GC:G	acceptor_loss	1.0000
19:19147184:C:CC	acceptor_gain	1.0000
19:19147694:TTA:T	donor_loss	1.0000
19:19147694:TTACA:T	donor_loss	1.0000
19:19147696:A:AC	donor_gain	1.0000
19:19147697:C:CA	donor_gain	1.0000
19:19147697:CA:C	donor_gain	1.0000
19:19147697:CAT:C	donor_gain	1.0000
19:19147697:CATA:C	donor_gain	1.0000
19:19147700:ACAG:A	donor_gain	1.0000
19:19147701:CAG:C	donor_gain	1.0000
19:19147701:CAGC:C	donor_gain	1.0000
19:19147731:C:CA	donor_gain	1.0000
19:19147830:CGT:C	acceptor_gain	1.0000
19:19147833:C:CC	acceptor_gain	1.0000

AlphaMissense

2322 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:19149279:A:C	Y69D	1.000
19:19149279:A:G	Y69H	1.000
19:19149284:A:G	L67P	1.000
19:19149287:A:G	L66P	1.000
19:19149287:A:T	L66Q	1.000
19:19149307:G:C	S59R	1.000
19:19149307:G:T	S59R	1.000
19:19149308:C:A	S59I	1.000
19:19149309:T:G	S59R	1.000
19:19149311:G:T	A58D	1.000
19:19149312:C:G	A58P	1.000
19:19149314:T:C	Y57C	1.000
19:19149314:T:G	Y57S	1.000
19:19149315:A:C	Y57D	1.000
19:19149315:A:G	Y57H	1.000
19:19149315:A:T	Y57N	1.000
19:19149319:G:C	F55L	1.000
19:19149319:G:T	F55L	1.000
19:19149321:A:G	F55L	1.000
19:19149340:G:C	F48L	1.000
19:19149340:G:T	F48L	1.000
19:19149341:A:G	F48S	1.000
19:19149342:A:G	F48L	1.000
19:19149344:A:T	I47N	1.000
19:19149347:A:C	I46S	1.000
19:19149347:A:G	I46T	1.000
19:19149347:A:T	I46N	1.000
19:19149350:A:G	L45P	1.000
19:19149350:A:T	L45H	1.000
19:19149353:G:T	A44D	1.000

dbSNP variants (sampled 300 via entrez): RS1000317247 (19:19156777 G>A), RS1000370443 (19:19171189 G>A), RS1000523636 (19:19167635 T>C), RS1000549402 (19:19157426 G>A,T), RS1000578355 (19:19160176 G>A), RS1000716659 (19:19162182 C>T), RS1000921377 (19:19165101 G>C), RS1000976871 (19:19148061 A>G), RS1000976969 (19:19162356 C>A), RS1001027894 (19:19157574 G>A,C), RS1001069037 (19:19148777 T>G), RS1001152569 (19:19156019 G>A,T), RS1001230294 (19:19167828 C>G,T), RS1001278033 (19:19155682 C>T), RS1001327514 (19:19156726 A>C)

Disease associations

OMIM: gene MIM:600661 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

11 associations (top):

Study	Trait	p-value
GCST005978_17	Diastolic blood pressure	9.000000e-09
GCST006010_18	Mean arterial pressure	1.000000e-09
GCST007703_84	Systolic blood pressure	6.000000e-06
GCST007704_20	Diastolic blood pressure	3.000000e-09
GCST007704_40	Diastolic blood pressure	1.000000e-07
GCST007706_37	Mean arterial pressure	6.000000e-08
GCST007706_76	Mean arterial pressure	9.000000e-08
GCST009597_245	Multiple sclerosis	8.000000e-06
GCST012308_8	Schizophrenia	9.000000e-06
GCST012310_19	Schizophrenia x sex interaction	8.000000e-06
GCST012311_28	Schizophrenia x sex interaction	5.000000e-06

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0006336	diastolic blood pressure
EFO:0006340	mean arterial pressure
EFO:0006335	systolic blood pressure
EFO:0008343	sex interaction measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

19 total (human), top 19 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
triphenyl phosphate	affects expression	1
pirinixic acid	affects binding, decreases expression, increases activity	1
bisphenol A	affects expression	1
2,5,2’,5’-tetrachlorobiphenyl	decreases expression	1
ethyl-p-hydroxybenzoate	decreases expression	1
tetrabromobisphenol A	increases expression	1
indeno(1,2,3-cd)pyrene	increases expression	1
Grape Seed Proanthocyanidins	affects cotreatment, increases expression	1
bisphenol Z	increases expression	1
Irinotecan	increases expression	1
Arsenic Trioxide	decreases expression	1
Air Pollutants	affects expression, increases abundance	1
Atrazine	increases expression	1
Catechin	affects cotreatment, increases expression	1
Fluorouracil	affects expression	1
Ozone	affects expression, increases abundance	1
Smoke	decreases expression	1
Urethane	increases expression	1
Valproic Acid	increases methylation	1

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_SX75	HAP1 MEF2B (-) 1	Cancer cell line	Male
CVCL_SX76	HAP1 MEF2B (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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