MLIP

Summary

MLIP (muscular LMNA interacting protein, HGNC:21355) is a protein-coding gene on chromosome 6p12.1, encoding Muscular LMNA-interacting protein (Q5VWP3). Required for myoblast differentiation into myotubes, possibly acting as a transcriptional regulator of the myogenic program.

Predicted to enable lamin binding activity and transcription corepressor activity. Predicted to be involved in negative regulation of cardiac muscle hypertrophy in response to stress; negative regulation of transcription by RNA polymerase II; and positive regulation of transcription by RNA polymerase II. Predicted to be located in PML body; nuclear envelope; and sarcolemma.

Source: NCBI Gene 90523 — RefSeq curated summary.

At a glance

• Gene–disease (curated): myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 1 (Strong, GenCC)
• GWAS associations: 15
• Clinical variants (ClinVar): 66 total — 7 pathogenic, 5 likely-pathogenic
• Phenotypes (HPO): 24
• MANE Select transcript: NM_001281747

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:21355
Approved symbol	MLIP
Name	muscular LMNA interacting protein
Location	6p12.1
Locus type	gene with protein product
Status	Approved
Aliases	MGC18257, CIP
Ensembl gene	ENSG00000146147
Ensembl biotype	protein_coding
OMIM	614106
Entrez	90523

Gene structure

Transcript identifiers

Ensembl transcripts: 19 — 15 protein_coding, 4 protein_coding_CDS_not_defined

ENST00000274897, ENST00000370876, ENST00000370877, ENST00000431554, ENST00000441845, ENST00000447836, ENST00000460844, ENST00000502396, ENST00000503951, ENST00000505762, ENST00000509997, ENST00000511369, ENST00000511678, ENST00000511744, ENST00000514433, ENST00000514921, ENST00000880056, ENST00000960867, ENST00000960868

RefSeq mRNA: 3 — MANE Select: NM_001281747 NM_001281746, NM_001281747, NM_138569

CCDS: CCDS4954, CCDS64448, CCDS64449

Canonical transcript exons

ENST00000502396 — 14 exons

Exon	Start	End
ENSE00002051403	54265950	54266280
ENSE00002485876	54257308	54257361
ENSE00002494084	54230714	54230917
ENSE00002695286	54111443	54111575
ENSE00003462091	54124473	54124865
ENSE00003466864	54149056	54149127
ENSE00003506825	54121447	54121602
ENSE00003509351	54202105	54202233
ENSE00003520122	54169528	54169572
ENSE00003610942	54136715	54138286
ENSE00003655482	54160367	54160432
ENSE00003691816	54160740	54160799
ENSE00003694189	54160516	54160599
ENSE00003694284	54189870	54189914

Expression profiles

Bgee: expression breadth ubiquitous, 186 present calls, max score 99.75.

FANTOM5 (CAGE): breadth broad, TPM avg 4.0984 / max 611.9212, expressed in 201 samples.

FANTOM5 promoters (17 alternative TSS)

Promoter ID	TPM avg	Samples expressed
68276	1.4850	52
68275	0.9481	53
68285	0.4919	59
68283	0.3889	76
68277	0.1019	23
68288	0.0990	42
68286	0.0979	45
68279	0.0939	24
68284	0.0767	37
68287	0.0672	29

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left ventricle myocardium	UBERON:0006566	99.75	gold quality
cardiac muscle of right atrium	UBERON:0003379	99.60	gold quality
myocardium	UBERON:0002349	99.35	gold quality
tibialis anterior	UBERON:0001385	99.27	gold quality
heart right ventricle	UBERON:0002080	99.08	gold quality
deltoid	UBERON:0001476	98.77	gold quality
tibial nerve	UBERON:0001323	98.28	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	98.28	gold quality
heart left ventricle	UBERON:0002084	98.14	gold quality
gastrocnemius	UBERON:0001388	98.12	gold quality
cardiac ventricle	UBERON:0002082	98.11	gold quality
biceps brachii	UBERON:0001507	98.01	gold quality
skeletal muscle tissue	UBERON:0001134	97.84	gold quality
hindlimb stylopod muscle	UBERON:0004252	97.75	gold quality
apex of heart	UBERON:0002098	97.70	gold quality
vastus lateralis	UBERON:0001379	97.66	gold quality
cardiac atrium	UBERON:0002081	97.33	gold quality
right atrium auricular region	UBERON:0006631	97.26	gold quality
skeletal muscle organ	UBERON:0014892	97.25	gold quality
muscle of leg	UBERON:0001383	97.19	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	97.13	gold quality
quadriceps femoris	UBERON:0001377	97.11	gold quality
trigeminal ganglion	UBERON:0001675	95.41	gold quality
heart	UBERON:0000948	95.30	gold quality
muscle tissue	UBERON:0002385	93.97	gold quality
sural nerve	UBERON:0015488	93.48	gold quality
dorsal root ganglion	UBERON:0000044	93.44	gold quality
body of tongue	UBERON:0011876	92.31	gold quality
right lobe of liver	UBERON:0001114	88.29	gold quality
islet of Langerhans	UBERON:0000006	83.74	gold quality

Single-cell (SCXA)

Detected in 7 experiment(s), a significant marker in 6.

Experiment	Marker?	Max mean expression
E-ANND-2	yes	3861.75
E-HCAD-30	yes	471.76
E-ENAD-27	yes	153.68
E-HCAD-35	yes	99.95
E-HCAD-25	yes	83.21
E-ANND-3	yes	5.09
E-MTAB-11268	no	2563.70

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): MEF2C, SP1, TFAP2A, TP53

miRNA regulators (miRDB)

26 targeting MLIP, 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-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-12136	99.98	72.81	5713
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-605-3P	99.88	69.22	1833
HSA-MIR-1299	99.77	71.24	2389
HSA-MIR-320A-3P	99.77	69.73	2107
HSA-MIR-320B	99.77	69.73	2107
HSA-MIR-320C	99.77	69.73	2107
HSA-MIR-320D	99.77	69.73	2107
HSA-MIR-4429	99.77	69.62	2111
HSA-MIR-6762-3P	99.66	66.94	1188
HSA-MIR-875-3P	99.63	69.47	2548
HSA-MIR-4688	99.48	64.68	828
HSA-MIR-6743-5P	99.48	63.60	721
HSA-MIR-5580-5P	99.38	66.96	1139
HSA-MIR-4291	99.20	68.88	2969
HSA-MIR-1301-3P	98.64	68.27	1071
HSA-MIR-5047	98.64	68.62	1035
HSA-MIR-4660	97.79	67.44	1328
HSA-MIR-647	97.73	67.79	927
HSA-MIR-6085	96.57	64.11	621
HSA-MIR-6813-5P	94.68	64.20	588
HSA-MIR-6789-5P	94.05	66.19	285
HSA-MIR-604	93.13	64.42	299

Literature-anchored findings (GeneRIF, showing 6)

• CIP expression is reduced in patients with dilated cardiomyopathy. (PMID:26436652)
• Regulation of myonuclear positioning and muscle function by the skeletal muscle-specific CIP protein. (PMID:32719146)
• MLIP genotype as a predictor of pharmacological response in primary open-angle glaucoma and ocular hypertension. (PMID:33452295)
• Cardiac CIP protein regulates dystrophic cardiomyopathy. (PMID:34400329)
• MLIP causes recessive myopathy with rhabdomyolysis, myalgia and baseline elevated serum creatine kinase. (PMID:34581780)
• [MLIP: a novel gene causing rhabdomyolysis].", trans “MLIP : un nouveau gene de rhabdomyolyse. (PMID:34878397)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	mlip	ENSDARG00000089920
mus_musculus	Mlip	ENSMUSG00000032355
rattus_norvegicus	Mlip	ENSRNOG00000005934

Protein

Protein identifiers

Muscular LMNA-interacting protein — Q5VWP3 (reviewed: Q5VWP3)

Alternative names: Cardiac Isl1-interacting protein, Muscular-enriched A-type laminin-interacting protein

All UniProt accessions (9): Q5VWP3, A0A0S2Z5Y2, D6R9R6, D6RD42, D6RHX6, E2QRH6, E9PCK9, E9PFJ4, H0Y8L5

UniProt curated annotations — full annotation on UniProt →

Function. Required for myoblast differentiation into myotubes, possibly acting as a transcriptional regulator of the myogenic program. Required for cardiac adaptation to stress through integrated regulation of the AKT/mTOR pathways and FOXO1. Regulates cardiac homeostasis and plays a role in the protection against cardiac hypertrophy. Binds chromatin. May act as a transcriptional cofactor for ISL1, repressing its transcriptional activity. May also repress MYOCD transcriptional activity.

Subunit / interactions. Directly interacts with LMNA. Interacts with ISL1 (via N-terminal domain); the interaction represses ISL1 transactivator activity. Interactions of ISL1 with MLIP1 and GCN5/KAT2A may be mutually exclusive.

Subcellular location. Nucleus. Nucleus envelope. PML body. Cytoplasm. Cytosol. Cell membrane. Sarcolemma.

Tissue specificity. Predominantly expressed in the heart and skeletal muscle. Also detected in liver. Expressed in skeletal muscle. Expressed in skeletal muscle.

Disease relevance. Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 1 (MMCKR1) [MIM:620138] An autosomal recessive muscular disorder characterized by mild muscle weakness, early fatigue after mild to moderate physical exertion, exercise-induced muscle pain, variable susceptibility to episodes of rhabdomyolysis, and elevated serum creatine kinase levels. Rarely, affected individuals may demonstrate cardiac involvement, including left ventricular dysfunction or rhythm abnormalities. The disease is caused by variants affecting the gene represented in this entry. In a patient homozygous for the variant p.Gln762Ter, it has been shown that skeletal muscles display a clear alteration of the alternative splicing isoform expression pattern. While the variant transcript likely undergoes nonsense-mediated mRNA decay, cells may attempt to compensate for truncated MLIP proteins by expressing alternative transcripts; this partial escape mechanism may account for the relatively mild phenotype in this individual, who did not develop significant symptoms until around 50 years of age.

Miscellaneous. It is uncertain whether Met-1 or Met-18 is the initiator.

Isoforms (4)

UniProt ID	Names	Canonical?
Q5VWP3-3	3	yes
Q5VWP3-1	1
Q5VWP3-2	2
Q5VWP3-4	4

RefSeq proteins (3): NP_001268675, NP_001268676, NP_612636 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR029331	MLIP	Family

Pfam: PF15274

UniProt features (40 total): region of interest 12, compositionally biased region 10, sequence variant 8, splice variant 6, modified residue 2, chain 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5VWP3-F1	43.75	0.02

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 (2): 146, 818

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 133 (showing top): GSE45365_NK_CELL_VS_CD8_TCELL_DN, GCANCTGNY_MYOD_Q6, GAUSSMANN_MLL_AF4_FUSION_TARGETS_A_DN, CAGCTG_AP4_Q5, SRF_Q5_01, GOBP_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS, chr6p12, OCT1_03, GOBP_MUSCLE_ADAPTATION, WTGAAAT_UNKNOWN, GOBP_REGULATION_OF_RESPONSE_TO_STRESS, GOBP_REGULATION_OF_MUSCLE_HYPERTROPHY, GOBP_REGULATION_OF_SYSTEM_PROCESS, GOBP_MUSCLE_HYPERTROPHY, GOBP_MUSCLE_SYSTEM_PROCESS

GO Biological Process (5): negative regulation of transcription by RNA polymerase II (GO:0000122), transcription by RNA polymerase II (GO:0006366), negative regulation of cardiac muscle hypertrophy (GO:0010614), positive regulation of transcription by RNA polymerase II (GO:0045944), negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)

GO Molecular Function (3): transcription corepressor activity (GO:0003714), lamin binding (GO:0005521), protein binding (GO:0005515)

GO Cellular Component (9): nucleus (GO:0005634), nuclear envelope (GO:0005635), cytosol (GO:0005829), PML body (GO:0016605), nuclear lumen (GO:0031981), sarcolemma (GO:0042383), cytoplasm (GO:0005737), plasma membrane (GO:0005886), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
regulation of transcription by RNA polymerase II	2
transcription by RNA polymerase II	2
negative regulation of DNA-templated transcription	2
nucleus	2
DNA-templated transcription	1
cardiac muscle hypertrophy	1
regulation of cardiac muscle hypertrophy	1
negative regulation of muscle hypertrophy	1
positive regulation of DNA-templated transcription	1
negative regulation of cardiac muscle hypertrophy	1
negative regulation of cardiac muscle adaptation	1
cardiac muscle hypertrophy in response to stress	1
regulation of cardiac muscle hypertrophy in response to stress	1
transcription coregulator activity	1
protein binding	1
binding	1
intracellular membrane-bounded organelle	1
endomembrane system	1
organelle envelope	1
cytoplasm	1
nuclear body	1
intracellular organelle lumen	1
plasma membrane	1
intracellular anatomical structure	1
membrane	1
cell periphery	1

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

3 interactions, top by confidence:

A	B	Type	Score
LMNA	MLIP	psi-mi:“MI:0915”(physical association)	0.370

BioGRID (13): REL (Two-hybrid), ABLIM2 (Two-hybrid), MLIP (Two-hybrid), MLIP (Affinity Capture-MS), MLIP (Affinity Capture-MS), MLIP (Affinity Capture-MS), MRPL47 (Cross-Linking-MS (XL-MS)), IMMT (Cross-Linking-MS (XL-MS)), MLIP (Cross-Linking-MS (XL-MS)), MLIP (Affinity Capture-MS), MLIP (Affinity Capture-MS), MLIP (Two-hybrid), LMNA (Reconstituted Complex)

ESM2 similar proteins: A0A096MK47, A0JNH1, A6H5Y1, A6NCI8, A6NFA0, A6NGG8, B2RQL2, D3Z1D3, D3ZMK9, E9Q286, E9Q309, M0RD54, O14513, P51816, Q01613, Q03172, Q05860, Q2M2Z5, Q32LN6, Q3MHH3, Q3UXL4, Q3V0A6, Q569L8, Q571I4, Q5DTX6, Q5FW52, Q5HYW2, Q5R9I1, Q5VT06, Q5VWP3, Q60988, Q66HG9, Q68DA7, Q6P1W5, Q6P9P0, Q6PAC4, Q6PG16, Q711Q0, Q7TP36, Q7TSA6

Diamond homologs: A0A096MK47, Q5FW52, Q5VWP3

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	7
Likely pathogenic	5
Uncertain significance	35
Likely benign	5
Benign	7

Top pathogenic / likely-pathogenic (12)

Variant ID	HGVS	Classification
1801319	NM_001281747.2(MLIP):c.1739del (p.His580fs)	Pathogenic
1801320	NM_001281747.2(MLIP):c.1832del (p.Phe611fs)	Pathogenic
1801321	NM_001281747.2(MLIP):c.2443del (p.Ser815fs)	Pathogenic
1801324	NM_001281747.2(MLIP):c.2530C>T (p.Arg844Ter)	Pathogenic
1801325	NM_001281747.2(MLIP):c.1825A>T (p.Lys609Ter)	Pathogenic
1801326	NM_001281747.2(MLIP):c.2273del (p.Leu758fs)	Pathogenic
1801327	NM_001281747.2(MLIP):c.2284C>T (p.Gln762Ter)	Pathogenic
2571252	NM_001281747.2(MLIP):c.2589+1G>A	Likely pathogenic
3050298	NM_001281747.2(MLIP):c.2452del (p.Ser818fs)	Likely pathogenic
3779873	NM_001281747.2(MLIP):c.1212del (p.Gly405_Val406insTer)	Likely pathogenic
3779874	NM_001281747.2(MLIP):c.2494_2497del (p.Val832fs)	Likely pathogenic
4292695	NM_001281747.2(MLIP):c.1905_1912del (p.Glu635fs)	Likely pathogenic

SpliceAI

3543 predictions. Top by Δscore:

Variant	Effect	Δscore
6:54121601:GG:G	donor_gain	1.0000
6:54121602:GG:G	donor_gain	1.0000
6:54124461:C:G	acceptor_gain	1.0000
6:54124462:A:AG	acceptor_gain	1.0000
6:54124463:T:G	acceptor_gain	1.0000
6:54124471:A:AG	acceptor_gain	1.0000
6:54124472:G:GG	acceptor_gain	1.0000
6:54124472:GT:G	acceptor_gain	1.0000
6:54124472:GTC:G	acceptor_gain	1.0000
6:54124472:GTCT:G	acceptor_gain	1.0000
6:54124472:GTCTA:G	acceptor_gain	1.0000
6:54169568:AATAT:A	donor_gain	1.0000
6:54169569:ATAT:A	donor_gain	1.0000
6:54169570:TAT:T	donor_gain	1.0000
6:54169571:AT:A	donor_gain	1.0000
6:54169573:G:GG	donor_gain	1.0000
6:54169574:TAA:T	donor_loss	1.0000
6:54169576:AGT:A	donor_loss	1.0000
6:54189911:GCTG:G	donor_gain	1.0000
6:54202079:A:AG	acceptor_gain	1.0000
6:54202080:A:G	acceptor_gain	1.0000
6:54202081:A:AG	acceptor_gain	1.0000
6:54202083:T:G	acceptor_gain	1.0000
6:54202230:ACAGG:A	donor_loss	1.0000
6:54202232:AGG:A	donor_loss	1.0000
6:54202234:GT:G	donor_loss	1.0000
6:54202235:T:G	donor_loss	1.0000
6:54257272:A:AG	acceptor_gain	1.0000
6:54257273:C:G	acceptor_gain	1.0000
6:54257277:T:TA	acceptor_gain	1.0000

AlphaMissense

6369 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:54121489:T:C	F36L	0.993
6:54121491:T:A	F36L	0.993
6:54121491:T:G	F36L	0.993
6:54124642:T:A	V130D	0.992
6:54121484:T:C	F34S	0.990
6:54121483:T:C	F34L	0.989
6:54121485:C:A	F34L	0.989
6:54121485:C:G	F34L	0.989
6:54121493:T:A	V37D	0.989
6:54124626:T:C	F125L	0.988
6:54124627:T:C	F125S	0.988
6:54124628:C:A	F125L	0.988
6:54124628:C:G	F125L	0.988
6:54124633:C:A	A127D	0.988
6:54202189:T:C	F357L	0.988
6:54202191:C:A	F357L	0.988
6:54202191:C:G	F357L	0.988
6:54121490:T:C	F36S	0.987
6:54149093:C:A	A217E	0.985
6:54124632:G:C	A127P	0.984
6:54149090:C:A	A216E	0.984
6:54149092:G:C	A217P	0.984
6:54149096:T:C	I218T	0.984
6:54202123:C:A	R335S	0.984
6:54149082:G:C	K213N	0.983
6:54149082:G:T	K213N	0.983
6:54149096:T:G	I218S	0.982
6:54160568:T:A	I268N	0.982
6:54149096:T:A	I218N	0.981
6:54202124:G:C	R335P	0.978

dbSNP variants (sampled 300 via entrez): RS1000013336 (6:54195298 G>A,C), RS1000019974 (6:54260688 A>C), RS1000025085 (6:54237007 G>C), RS1000060016 (6:54178007 A>G), RS1000065132 (6:54086890 T>A,G), RS1000070234 (6:54038123 G>C), RS1000073475 (6:54249971 C>G), RS1000084446 (6:54171773 C>T), RS1000090005 (6:54171444 C>T), RS1000094022 (6:54029768 A>G), RS1000096476 (6:54023166 CAAA>C,CAAAAAA,CAAAAAAAAAA,CAAAAAAAAAAAA), RS1000103848 (6:54152589 C>T), RS1000110342 (6:54088519 C>G,T), RS1000145209 (6:54170332 T>C), RS1000148949 (6:54063727 T>C)

Disease associations

OMIM: gene MIM:614106 | disease phenotypes: MIM:620138, MIM:619188

GenCC curated gene-disease

Disease	Classification	Inheritance
myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 1	Strong	Autosomal recessive

Mondo (3): myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis (MONDO:0979249), intellectual developmental disorder, autosomal dominant 64 (MONDO:0030934), myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 1 (MONDO:0859322)

Orphanet (0):

HPO phenotypes

24 total (24 of 24 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0001270	Motor delay
HP:0002910	Elevated circulating hepatic transaminase concentration
HP:0002913	Myoglobinuria
HP:0003201	Rhabdomyolysis
HP:0003202	Skeletal muscle atrophy
HP:0003236	Elevated circulating creatine kinase concentration
HP:0003259	Elevated circulating creatinine concentration
HP:0003546	Exercise intolerance
HP:0003557	Increased variability in muscle fiber diameter
HP:0003593	Infantile onset
HP:0003621	Juvenile onset
HP:0003687	Centrally nucleated skeletal muscle fibers
HP:0003701	Proximal muscle weakness
HP:0003710	Exercise-induced muscle cramps
HP:0003713	Muscle fiber necrosis
HP:0003738	Exercise-induced myalgia
HP:0008959	Distal upper limb muscle weakness
HP:0008967	Exercise-induced muscle stiffness
HP:0008994	Proximal lower limb muscle weakness
HP:0009073	Progressive proximal muscle weakness
HP:0011463	Childhood onset
HP:0025435	Increased circulating lactate dehydrogenase concentration
HP:0100297	Increased endomysial connective tissue

GWAS associations

15 associations (top):

Study	Trait	p-value
GCST001277_23	Liver enzyme levels (gamma-glutamyl transferase)	3.000000e-09
GCST005985_23	Creatinine levels	1.000000e-13
GCST006019_50	Gamma glutamyl transferase levels	5.000000e-17
GCST007096_128	Pulse pressure	2.000000e-09
GCST007099_259	Systolic blood pressure	2.000000e-06
GCST007269_249	Pulse pressure	2.000000e-08
GCST008163_410	Height	2.000000e-06
GCST008647_20	Urinary sodium excretion	2.000000e-25
GCST010218_1	Attention deficit hyperactivity disorder (hyperactivity-impulsivity symptoms)	7.000000e-07
GCST010989_104	Body size at age 10	9.000000e-14
GCST011349_4	Gamma glutamyl transferase levels	4.000000e-19
GCST012597_6	Attention deficit hyperactivity disorder	1.000000e-06
GCST90011898_145	Alanine aminotransferase levels	4.000000e-10
GCST90011900_188	Serum alkaline phosphatase levels	6.000000e-10
GCST90013405_109	Liver enzyme levels (alanine transaminase)	3.000000e-13

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0004532	serum gamma-glutamyl transferase measurement
EFO:0005763	pulse pressure measurement
EFO:0006335	systolic blood pressure
EFO:0009282	sodium measurement
EFO:0009819	comparative body size at age 10, self-reported
EFO:0004533	alkaline phosphatase measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

28 total (human), top 28 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Acetaminophen	decreases expression, increases expression	2
Aflatoxin B1	decreases expression, decreases methylation	2
FR900359	affects phosphorylation	1
methyleugenol	decreases expression	1
bisphenol A	increases expression	1
ascorbate-2-phosphate	affects binding, affects cotreatment, increases expression	1
4-(2-(5,6,7,8-tetrahydro-5,5,8,8-tetramethyl-2-naphthalenyl)-1-propenyl)benzoic acid	affects cotreatment, increases expression	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression, affects cotreatment	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
Chir 99021	affects cotreatment, increases expression, affects binding	1
bisphenol S	affects cotreatment, increases methylation	1
XAV939	affects binding, affects cotreatment, increases expression	1
LDN 193189	affects cotreatment, increases expression	1
3-(4-pyridyl)-1H-indole	affects cotreatment, increases expression	1
Resveratrol	affects cotreatment, increases expression	1
Sunitinib	decreases expression	1
Arsenic Trioxide	decreases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Ascorbic Acid	affects binding, affects cotreatment, increases expression	1
Copper	affects cotreatment, increases expression	1
Doxorubicin	decreases expression	1
Hydrocortisone	affects cotreatment, increases expression	1
Lipopolysaccharides	increases expression, affects response to substance, affects cotreatment	1
Methotrexate	increases expression	1
Phthalic Acids	decreases expression	1
Triclosan	decreases expression	1
Valproic Acid	decreases expression	1
Cyclosporine	decreases expression	1

Clinical trials (associated diseases)

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