MARF1

Summary

MARF1 (meiosis regulator and mRNA stability factor 1, HGNC:29562) is a protein-coding gene on chromosome 16p13.11, encoding Meiosis regulator and mRNA stability factor 1 (Q9Y4F3). Essential regulator of oogenesis required for female meiotic progression to repress transposable elements and preventing their mobilization, which is essential for the germline integrity.

This gene encodes a putative peroxisomal protein that appears to be conserved across Euteleostomi. In humans, it may be autoantigenic.

Source: NCBI Gene 9665 — RefSeq curated summary.

At a glance

• GWAS associations: 6
• Clinical variants (ClinVar): 280 total — 1 pathogenic, 4 likely-pathogenic
• MANE Select transcript: NM_014647

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29562
Approved symbol	MARF1
Name	meiosis regulator and mRNA stability factor 1
Location	16p13.11
Locus type	gene with protein product
Status	Approved
Aliases	LKAP, PPP1R34, LMKB
Ensembl gene	ENSG00000166783
Ensembl biotype	protein_coding
OMIM	614593
Entrez	9665

Gene structure

Transcript identifiers

Ensembl transcripts: 29 — 19 protein_coding, 6 retained_intron, 2 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay

ENST00000396368, ENST00000540441, ENST00000546864, ENST00000547936, ENST00000548025, ENST00000548216, ENST00000549219, ENST00000549337, ENST00000551579, ENST00000551678, ENST00000551742, ENST00000551878, ENST00000552535, ENST00000552553, ENST00000552771, ENST00000892732, ENST00000892733, ENST00000892734, ENST00000892735, ENST00000892736, ENST00000892737, ENST00000892738, ENST00000892739, ENST00000892740, ENST00000912641, ENST00000912642, ENST00000912643, ENST00000912644, ENST00000912645

RefSeq mRNA: 3 — MANE Select: NM_014647 NM_001184998, NM_001184999, NM_014647

CCDS: CCDS10562, CCDS53990, CCDS55991

Canonical transcript exons

ENST00000396368 — 27 exons

Exon	Start	End
ENSE00001106593	15625016	15625173
ENSE00001155851	15617052	15617171
ENSE00001156036	15624769	15624927
ENSE00001281717	15630332	15630504
ENSE00001335517	15625372	15625800
ENSE00001371487	15634757	15634931
ENSE00001524729	15622934	15623123
ENSE00001895064	15643018	15643154
ENSE00001950037	15594387	15596937
ENSE00003458756	15609523	15609725
ENSE00003460188	15633617	15633843
ENSE00003463841	15608291	15608518
ENSE00003468646	15600641	15600701
ENSE00003483591	15604168	15604398
ENSE00003509771	15611592	15611734
ENSE00003536593	15615830	15616005
ENSE00003543896	15601991	15602203
ENSE00003555655	15639090	15639291
ENSE00003574964	15635656	15636342
ENSE00003581934	15620451	15620531
ENSE00003586680	15610975	15611108
ENSE00003592959	15621733	15621911
ENSE00003599255	15631381	15631498
ENSE00003608115	15600428	15600553
ENSE00003652162	15617299	15617535
ENSE00003654011	15598854	15599024
ENSE00003660719	15612557	15612777

Expression profiles

Bgee: expression breadth ubiquitous, 134 present calls, max score 97.61.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 14.8498 / max 859.1963, expressed in 1768 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
156392	12.7640	1727
156391	1.2870	691
156390	0.4031	144
156389	0.1479	54
156393	0.1444	43
156386	0.0642	18
156388	0.0391	17

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
colonic epithelium	UBERON:0000397	97.61	gold quality
bone marrow cell	CL:0002092	95.69	gold quality
blood	UBERON:0000178	94.69	gold quality
tonsil	UBERON:0002372	94.45	gold quality
superior frontal gyrus	UBERON:0002661	93.93	gold quality
monocyte	CL:0000576	93.62	gold quality
leukocyte	CL:0000738	93.57	gold quality
bone marrow	UBERON:0002371	93.52	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	93.24	gold quality
Brodmann (1909) area 9	UBERON:0013540	93.10	gold quality
mucosa of stomach	UBERON:0001199	92.96	gold quality
anterior cingulate cortex	UBERON:0009835	92.78	gold quality
lymph node	UBERON:0000029	92.50	gold quality
endometrium	UBERON:0001295	92.50	gold quality
right frontal lobe	UBERON:0002810	92.47	gold quality
primary visual cortex	UBERON:0002436	92.46	gold quality
frontal cortex	UBERON:0001870	92.36	gold quality
cerebral cortex	UBERON:0000956	92.25	gold quality
prefrontal cortex	UBERON:0000451	92.14	gold quality
muscle layer of sigmoid colon	UBERON:0035805	92.11	gold quality
urinary bladder	UBERON:0001255	92.03	gold quality
cerebellum	UBERON:0002037	91.98	gold quality
cerebellar cortex	UBERON:0002129	91.95	gold quality
cerebellar hemisphere	UBERON:0002245	91.91	gold quality
granulocyte	CL:0000094	91.77	gold quality
substantia nigra	UBERON:0002038	91.67	gold quality
hypothalamus	UBERON:0001898	91.62	gold quality
popliteal artery	UBERON:0002250	91.62	gold quality
tibial artery	UBERON:0007610	91.62	gold quality
brain	UBERON:0000955	91.20	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.78

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

84 targeting MARF1, 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-7110-3P	100.00	73.18	2486
HSA-MIR-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-450A-1-3P	100.00	69.33	1837
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-6888-3P	99.97	65.95	1170
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-1236-3P	99.94	68.04	1695
HSA-MIR-6768-5P	99.92	67.36	1942
HSA-MIR-6508-5P	99.92	70.67	2465
HSA-MIR-8063	99.91	69.76	3146
HSA-MIR-3671	99.90	73.04	3897
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-6124	99.87	69.78	3551
HSA-MIR-221-3P	99.86	71.56	1329
HSA-MIR-222-3P	99.86	71.35	1337
HSA-MIR-3941	99.86	70.54	2735
HSA-MIR-8067	99.86	69.59	2260
HSA-MIR-4698	99.84	71.41	4303
HSA-MIR-5010-3P	99.83	70.60	2357

Literature-anchored findings (GeneRIF, showing 4)

• LMKB is the first protein identified to date that interacts with this portion of Ge-1. LMKB was expressed in human B and T lymphocyte cell lines; depletion of LMKB increased expression of IFI44L. (PMID:24755989)
• Human MARF1 is an endoribonuclease that interacts with the DCP1:DCP2 decapping complex and degrades target mRNAs. (PMID:30364987)
• A non-canonical role for the EDC4 decapping factor in regulating MARF1-mediated mRNA decay. (PMID:32510323)
• P-bodies directly regulate MARF1-mediated mRNA decay in human cells. (PMID:35801873)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	MARF1	ENSDARG00000115222
mus_musculus	Marf1	ENSMUSG00000060657
rattus_norvegicus	LOC134485113	ENSRNOG00000051237
rattus_norvegicus	Marf1	ENSRNOG00000056248
drosophila_melanogaster	Marf1	FBGN0039972

Protein

Protein identifiers

Meiosis regulator and mRNA stability factor 1 — Q9Y4F3 (reviewed: Q9Y4F3)

Alternative names: Limkain-b1, Meiosis arrest female protein 1

All UniProt accessions (5): Q9Y4F3, F8VRS5, F8VVB8, G8JLP4, H0YIB6

UniProt curated annotations — full annotation on UniProt →

Function. Essential regulator of oogenesis required for female meiotic progression to repress transposable elements and preventing their mobilization, which is essential for the germline integrity. Probably acts via some RNA metabolic process, equivalent to the piRNA system in males, which mediates the repression of transposable elements during meiosis by forming complexes composed of RNAs and governs the methylation and subsequent repression of transposons. Also required to protect from DNA double-strand breaks.

Subunit / interactions. Interacts with LIMK2.

Subcellular location. Peroxisome.

Miscellaneous. May be due to an intron retention.

Isoforms (5)

UniProt ID	Names	Canonical?
Q9Y4F3-1	1	yes
Q9Y4F3-3	2
Q9Y4F3-4	3
Q9Y4F3-5	4
Q9Y4F3-6	5

RefSeq proteins (3): NP_001171927, NP_001171928, NP_055462* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000504	RRM_dom	Domain
IPR012677	Nucleotide-bd_a/b_plait_sf	Homologous_superfamily
IPR021139	NYN	Domain
IPR024768	Marf1	Family
IPR025605	OST-HTH/LOTUS_dom	Domain
IPR034189	MARF1_RRM1	Domain
IPR034191	MARF1_RRM2	Domain
IPR035979	RBD_domain_sf	Homologous_superfamily
IPR041966	LOTUS-like	Homologous_superfamily
IPR045602	MARF1_LOTUS	Domain

Pfam: PF00076, PF01936, PF11608, PF12872, PF19687

UniProt features (62 total): strand 16, helix 11, domain 10, modified residue 6, splice variant 6, region of interest 3, compositionally biased region 3, sequence conflict 3, turn 3, chain 1

Structure

Experimental structures (PDB)

3 structures.

PDB	Method	Resolution (Å)
6FDL	X-RAY DIFFRACTION	1.75
2DGX	SOLUTION NMR
2DIU	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9Y4F3-F1	63.23	0.26

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 (6): 66, 699, 760, 1091, 1093, 1571

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 206 (showing top): GGGACCA_MIR133A_MIR133B, GCM_MAP4K4, GOMF_RNA_NUCLEASE_ACTIVITY, GCM_PTPRD, GOMF_NUCLEASE_ACTIVITY, MODULE_45, GOBP_OOGENESIS, MODULE_503, GTGCCTT_MIR506, GOBP_ORGANELLE_FISSION, DEURIG_T_CELL_PROLYMPHOCYTIC_LEUKEMIA_DN, DACOSTA_UV_RESPONSE_VIA_ERCC3_COMMON_DN, GOBP_DNA_DAMAGE_RESPONSE, GOBP_CELLULAR_PROCESS_INVOLVED_IN_REPRODUCTION_IN_MULTICELLULAR_ORGANISM, MODULE_88

GO Biological Process (6): double-strand break repair (GO:0006302), female meiotic nuclear division (GO:0007143), regulation of gene expression (GO:0010468), oogenesis (GO:0048477), cell differentiation (GO:0030154), meiotic cell cycle (GO:0051321)

GO Molecular Function (5): RNA binding (GO:0003723), RNA nuclease activity (GO:0004540), CCR4-NOT complex binding (GO:1905762), nucleic acid binding (GO:0003676), protein binding (GO:0005515)

GO Cellular Component (4): cytoplasm (GO:0005737), peroxisome (GO:0005777), Golgi apparatus (GO:0005794), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
female gamete generation	2
meiotic nuclear division	2
binding	2
cellular anatomical structure	2
DNA repair	1
meiotic cell cycle	1
gene expression	1
regulation of macromolecule biosynthetic process	1
germ cell development	1
cellular developmental process	1
cell cycle	1
sexual reproduction	1
reproductive process	1
nucleic acid binding	1
nuclease activity	1
catalytic activity, acting on RNA	1
protein-containing complex binding	1
intracellular anatomical structure	1
microbody	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

1430 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MARF1	TDRD5	Q8NAT2	755
MARF1	CEP20	Q96NB1	753
MARF1	NDE1	Q9NXR1	700
MARF1	TDRD7	Q8NHU6	670
MARF1	EDC4	Q6P2E9	664
MARF1	BMERB1	Q96MC5	647
MARF1	MPV17L	Q2QL34	630
MARF1	NOMO3	P69849	629
MARF1	H3BMD7	H3BMD7	612
MARF1	RRN3	Q9NYV6	563
MARF1	ABCC6	P78420	543
MARF1	PDXDC1	Q6P996	540
MARF1	NTAN1	Q96AB6	533
MARF1	PPP2CB	P11082	519
MARF1	MKRN2OS	H3BPM6	479

IntAct

67 interactions, top by confidence:

A	B	Type	Score
UBE3A	MARF1	psi-mi:“MI:0915”(physical association)	0.560
WDR5	MARF1	psi-mi:“MI:0915”(physical association)	0.560
TCF4	MARF1	psi-mi:“MI:0915”(physical association)	0.560
PEX14	MARF1	psi-mi:“MI:0915”(physical association)	0.560
GSC2	MARF1	psi-mi:“MI:0915”(physical association)	0.560
INCA1	MARF1	psi-mi:“MI:0915”(physical association)	0.560
CLTB	PIK3C2A	psi-mi:“MI:0914”(association)	0.530
MARF1	PPP1CA	psi-mi:“MI:0407”(direct interaction)	0.440
ALDH16A1	TRIAP1	psi-mi:“MI:0914”(association)	0.350
APPL1	ARPC2	psi-mi:“MI:0914”(association)	0.350
ARHGAP18	CLTB	psi-mi:“MI:0914”(association)	0.350
CAPZB	ENAH	psi-mi:“MI:0914”(association)	0.350
CLTA	CLTB	psi-mi:“MI:0914”(association)	0.350
HNRNPA2B1	CLTB	psi-mi:“MI:0914”(association)	0.350
KRAS	ARPC1B	psi-mi:“MI:0914”(association)	0.350
LMNA	CLIC1	psi-mi:“MI:0914”(association)	0.350
RBM5	SF3A3	psi-mi:“MI:0914”(association)	0.350
RHOA	MPHOSPH10	psi-mi:“MI:0914”(association)	0.350
RRAS2	ESYT2	psi-mi:“MI:0914”(association)	0.350
TRAPPC2	TRAPPC13	psi-mi:“MI:0914”(association)	0.350
CADPS	ACOT7	psi-mi:“MI:0914”(association)	0.350
PRICKLE4	USO1	psi-mi:“MI:0914”(association)	0.350
ZMAT4	RNF123	psi-mi:“MI:0914”(association)	0.350
CPEB1	CNOT1	psi-mi:“MI:2364”(proximity)	0.270
PPIL4	ESYT2	psi-mi:“MI:2364”(proximity)	0.270
MARF1	MTNR1B	psi-mi:“MI:0915”(physical association)	0.000
MARF1	RB1	psi-mi:“MI:0915”(physical association)	0.000
MARF1	PCGF3	psi-mi:“MI:0915”(physical association)	0.000
MARF1	PCGF5	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (158): KIAA0430 (Affinity Capture-MS), KIAA0430 (Affinity Capture-MS), KIAA0430 (Affinity Capture-MS), KIAA0430 (Affinity Capture-MS), KIAA0430 (Affinity Capture-MS), KIAA0430 (Affinity Capture-MS), NISCH (Affinity Capture-MS), KIAA0430 (Affinity Capture-MS), KIAA0430 (Affinity Capture-MS), KIAA0430 (Affinity Capture-MS), PCGF5 (Affinity Capture-MS), PCGF3 (Affinity Capture-MS), KIAA0430 (Affinity Capture-MS), KIAA0430 (Affinity Capture-MS), KIAA1671 (Affinity Capture-MS)

ESM2 similar proteins: A0A1L8GR68, A2A791, B2GUN4, E1BP74, E1BZ85, F1QLG5, F7AQ22, O00472, O15164, O15550, O70546, O88974, O95789, P49140, P55265, P70365, Q14202, Q14596, Q15047, Q15788, Q4PJW2, Q5R413, Q5RC94, Q5RDJ2, Q5VZL5, Q64127, Q69Z66, Q6H8Q1, Q6KC51, Q6NXK2, Q6P3Y5, Q6PFK1, Q7Z3K3, Q8BJ34, Q8BL65, Q8BZH4, Q8CHY6, Q8IZD4, Q8TEW8, Q8VIG2

Diamond homologs: B2GUN4, E1BP74, E1BZ85, Q8BJ34, Q8VIG2, Q9Y4F3

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 66 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.

GO biological processes:

GO term	Partners	Fold	FDR
protein import into nucleus	6	14.7×	8e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	4
Uncertain significance	226
Likely benign	18
Benign	1

Top pathogenic / likely-pathogenic (5)

Variant ID	HGVS	Classification
564290	GRCh37/hg19 16p13.11(chr16:15495265-16330672)x1	Pathogenic
1703607	GRCh37/hg19 16p13.11-12.3(chr16:15316618-18191725)	Likely pathogenic
1711419	GRCh37/hg19 16p13.11-12.3(chr16:15457516-17564653)x3	Likely pathogenic
2570961	GRCh37/hg19 16p13.11(chr16:14819740-16364041)x3	Likely pathogenic
980083	GRCh37/hg19 16p13.11-12.3(chr16:15481920-16837613)x3	Likely pathogenic

SpliceAI

4495 predictions. Top by Δscore:

Variant	Effect	Δscore
16:15596938:C:CC	acceptor_gain	1.0000
16:15600426:A:AC	donor_gain	1.0000
16:15600427:C:CC	donor_gain	1.0000
16:15600427:CCA:C	donor_gain	1.0000
16:15600550:CGAC:C	acceptor_gain	1.0000
16:15600553:CCTA:C	acceptor_loss	1.0000
16:15600554:C:CC	acceptor_gain	1.0000
16:15601986:CCCA:C	donor_loss	1.0000
16:15601987:CCA:C	donor_loss	1.0000
16:15601988:CA:C	donor_loss	1.0000
16:15601990:C:CT	donor_loss	1.0000
16:15604163:CCTA:C	donor_loss	1.0000
16:15604164:CTAC:C	donor_loss	1.0000
16:15604165:TACCT:T	donor_loss	1.0000
16:15604167:C:CG	donor_loss	1.0000
16:15604169:TCA:T	donor_gain	1.0000
16:15604397:ACC:A	acceptor_loss	1.0000
16:15608286:TTTA:T	donor_loss	1.0000
16:15608287:TTA:T	donor_loss	1.0000
16:15608288:TAC:T	donor_loss	1.0000
16:15608289:ACCT:A	donor_loss	1.0000
16:15608515:ATAC:A	acceptor_gain	1.0000
16:15608518:CCT:C	acceptor_loss	1.0000
16:15608518:CCTT:C	acceptor_gain	1.0000
16:15608521:T:C	acceptor_gain	1.0000
16:15608521:T:TC	acceptor_gain	1.0000
16:15608528:C:CT	acceptor_gain	1.0000
16:15608530:C:CT	acceptor_gain	1.0000
16:15609521:A:AC	donor_gain	1.0000
16:15609522:C:CC	donor_gain	1.0000

AlphaMissense

11472 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
16:15600697:A:T	V1544D	1.000
16:15609551:A:G	L1309P	1.000
16:15609612:G:C	H1289D	1.000
16:15609615:A:C	Y1288D	1.000
16:15609626:A:G	F1284S	1.000
16:15625607:A:T	V573D	1.000
16:15625661:A:G	F555S	1.000
16:15625667:A:G	L553P	1.000
16:15625730:A:G	L532P	1.000
16:15625730:A:T	L532H	1.000
16:15625778:A:T	V516D	1.000
16:15630399:G:T	A486D	1.000
16:15630471:A:G	L462P	1.000
16:15630491:A:C	F455L	1.000
16:15630491:A:T	F455L	1.000
16:15630492:A:G	F455S	1.000
16:15630493:A:G	F455L	1.000
16:15630501:T:A	D452V	1.000
16:15630501:T:C	D452G	1.000
16:15630501:T:G	D452A	1.000
16:15630502:C:G	D452H	1.000
16:15631384:A:G	S450P	1.000
16:15631389:A:G	L448P	1.000
16:15631389:A:T	L448H	1.000
16:15631392:A:T	V447D	1.000
16:15631395:A:T	V446E	1.000
16:15631424:A:C	F436L	1.000
16:15631424:A:T	F436L	1.000
16:15631425:A:G	F436S	1.000
16:15631426:A:G	F436L	1.000

dbSNP variants (sampled 300 via entrez): RS1000078932 (16:15622575 A>T), RS1000102742 (16:15630852 C>T), RS1000261054 (16:15628205 T>C), RS1000272564 (16:15614656 G>GGT), RS1000387954 (16:15634250 C>G), RS1000425864 (16:15620707 AAAG>A), RS1000530345 (16:15626100 G>C), RS1000612543 (16:15601114 A>G), RS1000695585 (16:15595960 A>C,G,T), RS1000729501 (16:15639521 C>A), RS1000779110 (16:15627939 A>G), RS1000797549 (16:15611967 G>A,T), RS1000901003 (16:15605736 T>C), RS1000939279 (16:15642568 T>C), RS1000985855 (16:15625915 G>T)

Disease associations

OMIM: gene MIM:614593 | disease phenotypes:

GenCC curated gene-disease

Mondo (2): cardiomyopathy (MONDO:0004994), 16p13.11 microdeletion syndrome (MONDO:0016836)

Orphanet (2): Rare cardiomyopathy (Orphanet:167848), 16p13.11 microdeletion syndrome (Orphanet:261236)

HPO phenotypes

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

GWAS associations

6 associations (top):

Study	Trait	p-value
GCST002444_7	Plasma omega-6 polyunsaturated fatty acid levels (dihomo-gamma-linolenic acid)	2.000000e-67
GCST002444_8	Plasma omega-6 polyunsaturated fatty acid levels (dihomo-gamma-linolenic acid)	5.000000e-25
GCST002446_5	Plasma omega-6 polyunsaturated fatty acid levels (linoleic acid)	1.000000e-15
GCST002446_8	Plasma omega-6 polyunsaturated fatty acid levels (linoleic acid)	4.000000e-14
GCST002450_10	Plasma omega-6 polyunsaturated fatty acid levels (gamma-linolenic acid)	2.000000e-12
GCST008173_7	Alanine aminotransferase levels	1.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0005680	omega-6 polyunsaturated fatty acid measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D009202	Cardiomyopathies	C14.280.238

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	affects expression, decreases expression, increases expression	4
bisphenol A	increases expression, decreases methylation	3
Estradiol	decreases expression, increases expression	2
Valproic Acid	decreases expression, affects expression	2
Cyclosporine	increases expression	2
Aflatoxin B1	decreases methylation	2
Cadmium Chloride	decreases expression, increases abundance	2
GSK-J4	increases expression	1
FR900359	increases phosphorylation	1
dicrotophos	increases expression	1
urushiol	decreases expression	1
arsenite	decreases reaction, affects binding	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
butyraldehyde	decreases expression	1
cupric oxide	increases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
abrine	increases expression	1
2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine	increases expression, increases response to substance	1
Sunitinib	increases expression	1
Leflunomide	decreases expression	1
Benzo(a)pyrene	affects methylation	1
Cadmium	decreases expression, increases abundance	1
Caffeine	affects phosphorylation	1
Cisplatin	decreases expression	1
Doxorubicin	decreases expression	1
Folic Acid	decreases expression	1
Methotrexate	increases expression	1
Phthalic Acids	decreases methylation	1
Dronabinol	increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00348530	PHASE4	UNKNOWN	Carvedilol Versus Verapamil in Chronic Heart Failure Secondary to Non-Ischemic Cardiomyopathy
NCT00371891	PHASE4	COMPLETED	Ontario Multidetector Computed Tomographic (MDCT) Coronary Angiography Study (OMCAS)
NCT00401856	PHASE4	COMPLETED	CMR to Assess Fibrosis in Cardiomyopathy Using Eplerenone
NCT00559338	PHASE4	COMPLETED	Impact of Nesiritide Infusion for Decompensated Heart Failure in the Emergency Department
NCT00606775	PHASE4	UNKNOWN	The Preventive Efficacy of Carvedilol on Cardiac Dysfunction in Duchenne Muscular Dystrophy
NCT00658203	PHASE4	COMPLETED	Clinical Evaluation on Advanced Resynchronization
NCT00701220	PHASE4	COMPLETED	Statin Therapy for Ischemic and Nonischemic Cardiomyopathy
NCT00800761	PHASE4	COMPLETED	Intensive Combined Chelation Therapy for Iron-Induced Cardiac Disease in Patients With Thalassemia Major
NCT00806390	PHASE4	TERMINATED	Prevention of Anthracycline or Trastuzumab Induced Cardiomyopathy by Metoprolol
NCT01006473	PHASE4	COMPLETED	Exercise Training in Chagas Cardiomyopathy
NCT01261065	PHASE4	COMPLETED	Mechanisms of Improvement With Beta-Blocker Treatment in Heart Failure
NCT01345188	PHASE4	COMPLETED	Ranolazine in Ischemic Cardiomyopathy
NCT01868841	PHASE4	COMPLETED	123-I mIBG (AdreView) Heart-to-Mediastinal (H/M) Ratio and SPECT Imaging on a Small Field of View-High Efficiency Cardiac SPECT System
NCT02640846	PHASE4	UNKNOWN	Effects of Levosimendan, Milrinone and Norepinephrine on Left and Right Ventricular Function in Septic Shock
NCT03228823	PHASE4	UNKNOWN	Prospective Assessment of Premature Ventricular Contractions Suppression in Cardiomyopathy(PAPS)
NCT04323852	PHASE4	COMPLETED	Can Vitamin D Reduce Heart Muscle Damage After Bypass Surgery?
NCT05034432	PHASE4	RECRUITING	The PIVATAL Study -Study of Ventricular Arrhythmia (VTA) Ablation in Left Ventricular Assist Device (LVAD) Patients
NCT05718128	PHASE4	RECRUITING	Clinical Study of Endocardial Myocardial Biopsy
NCT06964464	PHASE4	RECRUITING	Comparative Effectiveness of Carvedilol Versus Metoprolol Succinate in Heart Failure Patients With an Implantable Cardioverter Defibrillator
NCT00170183	PHASE3	COMPLETED	Brain Natriuretic Peptide (BNP) to Preserve Renal Function in Hospitalized Patients With Heart Failure
NCT00270387	PHASE3	COMPLETED	A Study of Short-Term Outcomes and Economic Impact For Patients With Worsening Congestive Heart Failure When Natrecor (Nesiritide) is Added to Standard-Care Therapy, Compared to Administration of Placebo With Standard-Care Therapy
NCT00321295	PHASE3	COMPLETED	Biventricular Pacing In Patients With Left Ventricular Dysfunction After Cardiovascular Surgery
NCT00483197	PHASE3	UNKNOWN	VentrAssistTM LVAD as a Bridge to Cardiac Transplantation - Pivotal Trial
NCT00490321	PHASE3	UNKNOWN	VentrAssistTM LVAD for the Treatment of Advanced Heart Failure - Destination Therapy
NCT00626028	PHASE3	COMPLETED	Comparison of Inhaled Nitric Oxide and Oxygen in Participants Reactivity During Acute Pulmonary Vasodilator Testing
NCT01013714	PHASE3	UNKNOWN	Cardiac Sympathetic Denervation for Prevention of Ventricular Tachyarrhythmias
NCT01217827	PHASE3	COMPLETED	Implantable Cardioverter-Defibrillator Use in the VA System
NCT01648634	PHASE3	COMPLETED	Nebivolol for the Prevention of Left Ventricular Systolic Dysfunction in Patients With Duchenne Muscular Dystrophy
NCT02924285	PHASE3	COMPLETED	Catheter Ablation Versus Amiodarone for Therapy of Premature Ventricular Contractions in Patients With Structural Heart Disease
NCT03860935	PHASE3	COMPLETED	Efficacy and Safety of AG10 in Subjects With Transthyretin Amyloid Cardiomyopathy
NCT04166331	PHASE3	COMPLETED	Adjunctive DobutAmine in sePtic Cardiomyopathy With Tissue Hypoperfusion
NCT05175066	PHASE3	COMPLETED	Bisoprolol Administration to Prevent Anthracycline-induced Cardiotoxicity
NCT05237323	PHASE3	COMPLETED	Micophenolate Mofetil Versus Azathioprine in Myocarditis
NCT06158698	PHASE3	RECRUITING	CMP-MYTHiC Trial and Registry - CardioMyoPathy With MYocarditis THerapy With Colchicine
NCT06563895	PHASE3	RECRUITING	Acoramidis Transthyretin Amyloidosis Prevention Trial in the Young (ACT-EARLY) Study in Asymptomatic Carriers of a Pathogenic TTR Variant
NCT06846086	PHASE3	RECRUITING	Cardioprotective Effects of Melatonin in Patients With Cardiomyopathy
NCT07116473	PHASE3	NOT_YET_RECRUITING	To Evaluate the Long-term Safety and Tolerability of Acoramidis in Participants With Newly Diagnosed ATTR-CM (ACT-EARLY OLE)
NCT00185250	PHASE2	COMPLETED	Betaferon/ Betaseron (Interferon Beta-1b) in Patients With Chronic Viral Cardiomyopathy
NCT00490347	PHASE2	COMPLETED	VentrAssistTM LVAD as a Bridge to Cardiac Transplantation - Feasibility Trial
NCT00694161	PHASE2	COMPLETED	The Effects Of Fx-1006A On Transthyretin Stabilization And Clinical Outcome Measures In Patients With V122I Or Wild-Type TTR Amyloid Cardiomyopathy