MSC

Summary

MSC (musculin, HGNC:7321) is a protein-coding gene on chromosome 8q13.3, encoding Musculin (O60682). Transcription repressor capable of inhibiting the transactivation capability of TCF3/E47.

The protein encoded by this gene is a transcriptional repressor capable of binding an E-box element either as a homodimer or as a heterodimer with E2A in vitro. The encoded protein also forms heterodimers with E2A proteins in vivo. This protein is capable of inhibiting the transactivation capability of E47, an E2A protein, in mammalian cells. This gene is a downstream target of the B-cell receptor signal transduction pathway.

Source: NCBI Gene 9242 — RefSeq curated summary.

At a glance

• GWAS associations: 40
• Clinical variants (ClinVar): 26 total — 1 pathogenic
• Transcription factor: yes — 30 downstream targets (CollecTRI)
• MANE Select transcript: NM_005098

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:7321
Approved symbol	MSC
Name	musculin
Location	8q13.3
Locus type	gene with protein product
Status	Approved
Aliases	ABF-1, bHLHa22
Ensembl gene	ENSG00000178860
Ensembl biotype	protein_coding
OMIM	603628
Entrez	9242

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 2 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000325509, ENST00000518440, ENST00000521739, ENST00000912144

RefSeq mRNA: 1 — MANE Select: NM_005098 NM_005098

CCDS: CCDS43746

Canonical transcript exons

ENST00000325509 — 2 exons

Exon	Start	End
ENSE00003992092	71841560	71842747
ENSE00003992095	71843645	71844412

Expression profiles

Bgee: expression breadth ubiquitous, 165 present calls, max score 96.33.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 18.8196 / max 436.9720, expressed in 1189 samples.

FANTOM5 promoters (13 alternative TSS)

Promoter ID	TPM avg	Samples expressed
93567	5.1513	880
93575	3.4120	750
93574	2.8443	558
93571	2.5640	714
93569	1.2983	585
93566	0.8319	459
93565	0.6965	353
93572	0.6609	303
93568	0.4034	235
93563	0.2638	93

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right coronary artery	UBERON:0001625	96.33	gold quality
left coronary artery	UBERON:0001626	93.73	gold quality
thoracic aorta	UBERON:0001515	91.85	gold quality
ascending aorta	UBERON:0001496	91.73	gold quality
descending thoracic aorta	UBERON:0002345	91.44	gold quality
coronary artery	UBERON:0001621	91.39	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	88.49	gold quality
aorta	UBERON:0000947	87.26	gold quality
stromal cell of endometrium	CL:0002255	86.14	gold quality
gall bladder	UBERON:0002110	85.07	gold quality
apex of heart	UBERON:0002098	84.62	gold quality
tibial artery	UBERON:0007610	84.27	gold quality
popliteal artery	UBERON:0002250	84.25	gold quality
right atrium auricular region	UBERON:0006631	83.96	gold quality
mucosa of stomach	UBERON:0001199	82.64	gold quality
cardiac atrium	UBERON:0002081	81.01	gold quality
islet of Langerhans	UBERON:0000006	80.98	gold quality
left adrenal gland	UBERON:0001234	80.05	gold quality
lymph node	UBERON:0000029	79.41	gold quality
left adrenal gland cortex	UBERON:0035825	79.26	gold quality
omental fat pad	UBERON:0010414	79.11	gold quality
peritoneum	UBERON:0002358	79.01	gold quality
heart	UBERON:0000948	78.53	gold quality
vermiform appendix	UBERON:0001154	78.25	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	78.19	gold quality
heart left ventricle	UBERON:0002084	78.08	gold quality
adipose tissue of abdominal region	UBERON:0007808	77.15	gold quality
cardiac ventricle	UBERON:0002082	77.11	gold quality
right adrenal gland	UBERON:0001233	76.97	gold quality
lower esophagus muscularis layer	UBERON:0035833	76.24	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-MTAB-5061	yes	12.13
E-GEOD-81547	yes	9.25
E-ANND-3	yes	7.26

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

30 targets.

Target	Regulation
ADH4
AIMP2
AMY2A
CDC25A	Repression
CDC6	Repression
CKM	Repression
CTLA4	Activation
DKK1	Unknown
FOXP3	Activation
GOT1
IBSP
IFNG	Activation
IL10	Activation
IL2RA	Activation
KRT8
LTA	Repression
MAPK1
MCM7	Repression
MMP2	Activation
MSC
MYOCD
NR1I3
PLAT
PTPRC
RAP1A
RBFOX3
SHBG
TNFRSF19
TRIP10
UQCRQ

JASPAR motifs

Motif	Name	Family
MA0665.1	MSC	Tal-related

JASPAR matrix evidence (PMIDs): PMID:24175993

Upstream regulators (CollecTRI, top): EPAS1, F2RL1, HES6, KLF4, MSC

miRNA regulators (miRDB)

17 targeting MSC, 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-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-4428	99.73	66.41	1733
HSA-MIR-4306	99.72	70.50	3630
HSA-MIR-4699-3P	99.71	70.15	3142
HSA-MIR-5580-3P	99.70	69.41	2052
HSA-MIR-7152-5P	99.60	69.33	2094
HSA-MIR-12123	99.52	71.79	2990
HSA-MIR-548AS-3P	99.12	69.12	2294
HSA-MIR-7113-5P	97.88	67.33	1735
HSA-MIR-4690-3P	97.02	64.72	981
HSA-MIR-5685	97.02	64.34	1004
HSA-MIR-483-5P	93.53	65.81	111
HSA-MIR-4508	90.37	59.62	240
HSA-MIR-3178	89.40	60.05	100

Literature-anchored findings (GeneRIF, showing 7)

• role in repressing lymphotoxin alpha (PMID:15052269)
• ABF-1 is frequently silenced by promoter methylation in follicular lymphoma, diffuse large B-cell lymphoma and Burkitt’s lymphoma. (PMID:18368067)
• results demonstrate that ABF-1 facilitates formation of memory B cells but prevents plasma cell differentiation. (PMID:25070843)
• this study shows that musculin inhibits human T-helper 17 cell response to interleukin 2 by controlling STAT5B activity (PMID:28612433)
• These findings identify a novel recurrent MSC mutation as a key driver of the CD30-IRF4-MYC axis and cell cycle progression in a unique subset of anaplastic large cell lymphomas (PMID:31101622)
• Results found that MSC hypermethylation was more common in non-superficial type gastric cancer (GC) than those without MSC hypermethylation. (PMID:31675985)
• The Pathogenic Roles of IL-22 in Colitis: Its Transcription Regulation by Musculin in T Helper Subsets and Innate Lymphoid Cells. (PMID:34992594)

Cross-species orthologs

8 orthologs

Organism	Symbol	Gene ID
danio_rerio	msc	ENSDARG00000110016
mus_musculus	Msc	ENSMUSG00000025930
rattus_norvegicus	Msc	ENSRNOG00000007540
drosophila_melanogaster	twi	FBGN0003900
drosophila_melanogaster	HLH54F	FBGN0022740
drosophila_melanogaster	Hand	FBGN0032209
drosophila_melanogaster	CG33557	FBGN0053557
caenorhabditis_elegans		WBGENE00001953

Paralogs (13): HAND1 (ENSG00000113196), TCF21 (ENSG00000118526), TWIST1 (ENSG00000122691), TCF15 (ENSG00000125878), FERD3L (ENSG00000146618), TCF23 (ENSG00000163792), HAND2 (ENSG00000164107), PTF1A (ENSG00000168267), FIGLA (ENSG00000183733), BHLHA9 (ENSG00000205899), TWIST2 (ENSG00000233608), SCX (ENSG00000260428), TCF24 (ENSG00000261787)

Protein

Protein identifiers

Musculin — O60682 (reviewed: O60682)

Alternative names: Activated B-cell factor 1, Class A basic helix-loop-helix protein 22

All UniProt accessions (1): O60682

UniProt curated annotations — full annotation on UniProt →

Function. Transcription repressor capable of inhibiting the transactivation capability of TCF3/E47. May play a role in regulating antigen-dependent B-cell differentiation.

Subunit / interactions. Efficient DNA binding requires dimerization with another bHLH protein. Binds DNA as a homodimer or a heterodimer. Forms a heterodimer with TCF3.

Subcellular location. Nucleus.

Tissue specificity. Expressed in lymphoid tissues, B-cell lines and activated B-cells.

RefSeq proteins (1): NP_005089* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR011598	bHLH_dom	Domain
IPR036638	HLH_DNA-bd_sf	Homologous_superfamily
IPR050283	E-box_TF_Regulators	Family

Pfam: PF00010

UniProt features (9 total): compositionally biased region 3, sequence conflict 2, chain 1, domain 1, region of interest 1, short sequence motif 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O60682-F1	65.61	0.24

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 180 (showing top): CREL_01, GOBP_MUSCLE_TISSUE_DEVELOPMENT, BENPORATH_ES_WITH_H3K27ME3, GOBP_RESPONSE_TO_PEPTIDE, YAO_TEMPORAL_RESPONSE_TO_PROGESTERONE_CLUSTER_1, FOXO4_01, GGGTGGRR_PAX4_03, NFKB_Q6, GOBP_CARDIAC_CONDUCTION_SYSTEM_DEVELOPMENT, BROWNE_HCMV_INFECTION_48HR_DN, NFKB_C, GOBP_MUSCLE_STRUCTURE_DEVELOPMENT, WANG_RESPONSE_TO_BEXAROTENE_DN, GOBP_SKELETAL_MUSCLE_ORGAN_DEVELOPMENT, GGGNNTTTCC_NFKB_Q6_01

GO Biological Process (9): cardiac conduction system development (GO:0003161), regulation of DNA-templated transcription (GO:0006355), regulation of transcription by RNA polymerase II (GO:0006357), skeletal muscle tissue development (GO:0007519), branchiomeric skeletal muscle development (GO:0014707), roof of mouth development (GO:0060021), diaphragm development (GO:0060539), cellular response to leukemia inhibitory factor (GO:1990830), negative regulation of transcription by RNA polymerase II (GO:0000122)

GO Molecular Function (9): RNA polymerase II transcription regulatory region sequence-specific DNA binding (GO:0000977), 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 repressor activity, RNA polymerase II-specific (GO:0001227), DNA-binding transcription factor activity (GO:0003700), protein dimerization activity (GO:0046983), sequence-specific double-stranded DNA binding (GO:1990837), DNA binding (GO:0003677), protein binding (GO:0005515)

GO Cellular Component (3): chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
RNA polymerase II transcription regulatory region sequence-specific DNA binding	3
regulation of DNA-templated transcription	2
transcription by RNA polymerase II	2
skeletal muscle organ development	2
regulation of transcription by RNA polymerase II	2
transcription cis-regulatory region binding	2
cellular anatomical structure	2
cardiac muscle tissue development	1
DNA-templated transcription	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
striated muscle tissue development	1
muscle organ development	1
skeletal muscle tissue development	1
anatomical structure development	1
respiratory system development	1
cellular response to cytokine stimulus	1
response to leukemia inhibitory factor	1
negative regulation of DNA-templated transcription	1
cis-regulatory region sequence-specific DNA binding	1
chromatin	1
DNA-binding transcription factor activity	1
negative regulation of transcription by RNA polymerase II	1
DNA-binding transcription factor activity, RNA polymerase II-specific	1
DNA-binding transcription repressor activity	1
transcription regulator activity	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 interactions and networks

STRING

428 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MSC	HES6	Q96HZ4	807
MSC	AKR7A3	O95154	745
MSC	MYF5	P13349	712
MSC	MYOD1	P15172	704
MSC	NKX3-2	P78367	679
MSC	SIRT2	Q8IXJ6	635
MSC	TLX1	P31314	633
MSC	TCF3	P15883	609
MSC	SIRT1	Q96EB6	571
MSC	TLE1	Q04724	561
MSC	TBX1	O43435	542
MSC	ID2	Q02363	509
MSC	TCF4	P15884	505
MSC	GNB1L	Q9BYB4	497
MSC	CTCF	P49711	490

IntAct

28 interactions, top by confidence:

A	B	Type	Score
MSC	TCF4	psi-mi:“MI:0915”(physical association)	0.560
MSC	PBX2	psi-mi:“MI:0915”(physical association)	0.560
MSC	TCF12	psi-mi:“MI:0915”(physical association)	0.560
MSC	LNX1	psi-mi:“MI:0915”(physical association)	0.560
MSC	GORASP2	psi-mi:“MI:0915”(physical association)	0.560
	MSC	psi-mi:“MI:0915”(physical association)	0.370
CCL1	MSC	psi-mi:“MI:0915”(physical association)	0.370
IL3	MSC	psi-mi:“MI:0915”(physical association)	0.370
IL31	MSC	psi-mi:“MI:0915”(physical association)	0.370
PF4V1	MSC	psi-mi:“MI:0915”(physical association)	0.370
XCL1	MSC	psi-mi:“MI:0915”(physical association)	0.370
EWSR1	MSC	psi-mi:“MI:0915”(physical association)	0.370
MSC	TCF3	psi-mi:“MI:0914”(association)	0.350
MSC	TCF4	psi-mi:“MI:0915”(physical association)	0.000
MSC	GORASP2	psi-mi:“MI:0915”(physical association)	0.000
MSC	PBX2	psi-mi:“MI:0915”(physical association)	0.000
MSC	TCF12	psi-mi:“MI:0915”(physical association)	0.000
LNX1	MSC	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (17): MSC (Two-hybrid), ID2 (Two-hybrid), MSC (Affinity Capture-Western), YAP1 (Affinity Capture-Western), MSC (Affinity Capture-Western), MSC (Co-localization), MSC (Two-hybrid), MSC (Two-hybrid), MSC (Two-hybrid), TCF4 (Two-hybrid), PBX2 (Two-hybrid), MSC (Two-hybrid), TCF12 (Affinity Capture-MS), UBA3 (Affinity Capture-MS), TCF3 (Affinity Capture-MS)

ESM2 similar proteins: M0QWB7, O60682, O73615, O88940, O93507, O96004, P10085, P12979, P15173, P15375, P16075, P17920, P19335, P23409, P24899, P27792, P31259, P34060, P48985, P49812, P57100, P59101, P70447, P70562, P70595, P70660, P70661, P79766, P97832, Q01795, Q02346, Q08856, Q0VCE2, Q28555, Q3YFL6, Q60867, Q64279, Q64289, Q64305, Q66HH3

Diamond homologs: A8E5T6, B6VQA1, O13125, O13126, O16867, O35437, O42202, O42606, O43680, O57598, O60682, O73615, O73823, O88940, O93507, O96004, O96642, P13903, P17542, P22091, P24899, P26687, P46581, P48985, P48987, P57100, P57101, P57102, P59101, P61295, P61296, P70661, P79765, P79782, P97831, P97832, Q02575, Q02576, Q02577, Q0VCE2

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
MSC	“down-regulates activity”	TCF3	binding
F2RL1	“down-regulates quantity by repression”	MSC	“transcriptional regulation”

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	21
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
1527441	GRCh37/hg19 8q13.3(chr8:72314204-72924788)	Pathogenic

SpliceAI

350 predictions. Top by Δscore:

Variant	Effect	Δscore
8:71842743:CATGT:C	acceptor_gain	1.0000
8:71842744:ATGT:A	acceptor_gain	1.0000
8:71842745:TGT:T	acceptor_gain	1.0000
8:71842745:TGTC:T	acceptor_loss	1.0000
8:71842746:GT:G	acceptor_gain	1.0000
8:71842746:GTC:G	acceptor_loss	1.0000
8:71842747:TCTG:T	acceptor_loss	1.0000
8:71842748:C:CA	acceptor_loss	1.0000
8:71842748:C:CC	acceptor_gain	1.0000
8:71842749:T:G	acceptor_loss	1.0000
8:71843665:AG:A	donor_gain	1.0000
8:71843685:T:TA	donor_gain	1.0000
8:71842756:C:CT	acceptor_gain	0.9900
8:71842757:A:T	acceptor_gain	0.9900
8:71843558:C:A	donor_gain	0.9900
8:71843593:C:CA	donor_gain	0.9900
8:71843604:T:TA	donor_gain	0.9900
8:71843665:AGC:A	donor_gain	0.9900
8:71843666:G:C	donor_gain	0.9900
8:71843962:T:TA	donor_gain	0.9900
8:71842750:G:C	acceptor_gain	0.9800
8:71843557:T:TA	donor_gain	0.9800
8:71843601:ATCT:A	donor_gain	0.9800
8:71843616:T:A	donor_gain	0.9800
8:71843639:CCCTA:C	donor_loss	0.9800
8:71843640:CCTA:C	donor_loss	0.9800
8:71843641:CTA:C	donor_loss	0.9800
8:71843642:TA:T	donor_loss	0.9800
8:71843644:C:CT	donor_loss	0.9800
8:71843652:A:AC	donor_gain	0.9800

AlphaMissense

1307 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
8:71843703:A:G	L159P	1.000
8:71843712:A:T	I156N	1.000
8:71843724:G:T	A152D	1.000
8:71843727:A:G	L151P	1.000
8:71843733:A:C	L149R	1.000
8:71843733:A:G	L149P	1.000
8:71843733:A:T	L149H	1.000
8:71843742:A:G	L146P	1.000
8:71843744:C:A	K145N	1.000
8:71843744:C:G	K145N	1.000
8:71843745:T:A	K145M	1.000
8:71843746:T:C	K145E	1.000
8:71843746:T:G	K145Q	1.000
8:71843748:G:A	S144F	1.000
8:71843748:G:T	S144Y	1.000
8:71843751:A:G	L143P	1.000
8:71843751:A:T	L143H	1.000
8:71843778:A:T	L134Q	1.000
8:71843786:C:A	K131N	1.000
8:71843786:C:G	K131N	1.000
8:71843790:A:G	L130P	1.000
8:71843790:A:T	L130H	1.000
8:71843798:G:C	F127L	1.000
8:71843798:G:T	F127L	1.000
8:71843799:A:C	F127C	1.000
8:71843799:A:G	F127S	1.000
8:71843800:A:G	F127L	1.000
8:71843811:A:G	L123P	1.000
8:71843811:A:T	L123Q	1.000
8:71843820:A:C	M120R	1.000

dbSNP variants (sampled 300 via entrez): RS1000064036 (8:71844498 A>C,T), RS1000525369 (8:71845533 A>C,G), RS1000536480 (8:71844698 G>A), RS1001391692 (8:71844864 G>T), RS1001564540 (8:71845324 T>C), RS1001762679 (8:71844581 G>C), RS1002305499 (8:71845343 C>T), RS1002362180 (8:71845851 C>A,T), RS1002869355 (8:71841819 C>T), RS1002898802 (8:71842019 C>A), RS1002975023 (8:71843124 G>C), RS1003423803 (8:71841563 G>A), RS1003937198 (8:71845104 T>C), RS1003994440 (8:71845288 A>G), RS1005631753 (8:71846075 G>A)

Disease associations

OMIM: gene MIM:603628 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

40 associations (top):

Study	Trait	p-value
GCST002337_136	Amyotrophic lateral sclerosis (sporadic)	3.000000e-06
GCST002782_268	Waist-to-hip ratio adjusted for body mass index	2.000000e-10
GCST002782_269	Waist-to-hip ratio adjusted for body mass index	2.000000e-11
GCST002782_270	Waist-to-hip ratio adjusted for body mass index	3.000000e-10
GCST002782_271	Waist-to-hip ratio adjusted for body mass index	2.000000e-10
GCST003251_16	Late-onset myasthenia gravis	4.000000e-06
GCST004063_113	Waist circumference adjusted for body mass index	1.000000e-11
GCST004063_138	Waist circumference adjusted for body mass index	1.000000e-11
GCST004064_16	Waist-hip ratio	6.000000e-08
GCST004064_18	Waist-hip ratio	3.000000e-10
GCST004500_42	Waist circumference adjusted for BMI (adjusted for smoking behaviour)	1.000000e-08
GCST004500_94	Waist circumference adjusted for BMI (adjusted for smoking behaviour)	1.000000e-06
GCST004501_115	Waist circumference adjusted for BMI (joint analysis main effects and smoking interaction)	1.000000e-07
GCST004504_85	Waist circumference adjusted for BMI in non-smokers	8.000000e-07
GCST004505_84	Waist-to-hip ratio adjusted for BMI (adjusted for smoking behaviour)	2.000000e-06
GCST004505_85	Waist-to-hip ratio adjusted for BMI (adjusted for smoking behaviour)	1.000000e-09
GCST004507_14	Waist-to-hip ratio adjusted for BMI (joint analysis main effects and smoking interaction)	5.000000e-08
GCST004507_32	Waist-to-hip ratio adjusted for BMI (joint analysis main effects and smoking interaction)	8.000000e-08
GCST004508_19	Waist-to-hip ratio adjusted for BMI in non-smokers	5.000000e-06
GCST004567_87	Waist-to-hip ratio adjusted for BMI (joint analysis for main effect and physical activity interaction)	1.000000e-08
GCST004567_99	Waist-to-hip ratio adjusted for BMI (joint analysis for main effect and physical activity interaction)	8.000000e-06
GCST004576_21	Waist-to-hip ratio adjusted for body mass index	3.000000e-09
GCST004576_46	Waist-to-hip ratio adjusted for body mass index	5.000000e-07
GCST004576_47	Waist-to-hip ratio adjusted for body mass index	8.000000e-06
GCST004578_39	Waist-to-hip ratio adjusted for BMI in active individuals	7.000000e-08
GCST004578_55	Waist-to-hip ratio adjusted for BMI in active individuals	5.000000e-06
GCST004578_77	Waist-to-hip ratio adjusted for BMI in active individuals	7.000000e-08
GCST005171_2	QT interval	6.000000e-07
GCST005956_46	Waist-to-hip ratio adjusted for BMI	3.000000e-07
GCST005962_26	Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test)	6.000000e-07

EFO canonical traits (10, from GWAS)

EFO ID	Trait name
EFO:0007788	BMI-adjusted waist-hip ratio
EFO:0007789	BMI-adjusted waist circumference
EFO:0004343	waist-hip ratio
EFO:0004318	smoking behavior
EFO:0008002	physical activity measurement
EFO:0004682	QT interval
EFO:0008007	age at assessment
EFO:0008343	sex interaction measurement
EFO:0006939	cup-to-disc ratio measurement
EFO:0004736	aspartate aminotransferase measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	affects methylation, decreases methylation, increases expression	3
Benzo(a)pyrene	decreases methylation, increases expression, decreases expression	3
Tobacco Smoke Pollution	increases expression	2
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	decreases expression	1
arsenite	increases methylation	1
mono-(2-ethylhexyl)phthalate	decreases methylation, increases abundance	1
sulforaphane	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
sodium arsenite	increases expression	1
butyraldehyde	decreases expression	1
potassium chromate(VI)	decreases expression	1
ferrous chloride	decreases expression	1
nickel sulfate	increases expression	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression, affects cotreatment	1
pentanal	decreases expression	1
monomethylpropion	increases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
perfluoro-n-nonanoic acid	increases expression	1
abrine	increases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	increases expression	1
(4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II)	increases expression	1
bisphenol S	decreases methylation	1
NSC668394	increases expression	1
Arsenic Trioxide	decreases expression	1
Fulvestrant	increases methylation	1
Acetaminophen	increases expression	1
Air Pollutants	increases abundance, increases expression	1
Cisplatin	decreases expression	1
Diethylhexyl Phthalate	decreases methylation, increases abundance	1

Cellosaurus cell lines

3 cell lines: 3 embryonic stem cell

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

Cellosaurus	Name	Category	Sex
CVCL_A4E9	SEES3-1V human MSC, clone1	Embryonic stem cell	Male
CVCL_A4F0	SEES3-1V human MSC, clone2	Embryonic stem cell	Male
CVCL_A4F1	SEES3-1V human MSC, clone3	Embryonic stem cell	Male

Clinical trials (associated diseases)

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