TRIM55

Summary

TRIM55 (tripartite motif containing 55, HGNC:14215) is a protein-coding gene on chromosome 8q13.1, encoding Tripartite motif-containing protein 55 (Q9BYV6). E3 ubiquitin ligase that plays an important role in regulating cardiac development and contractility, muscle growth, metabolism, and fiber-type differentiation.

The protein encoded by this gene contains a RING zinc finger, a motif known to be involved in protein-protein interactions. This protein associates transiently with microtubules, myosin, and titin during muscle sarcomere assembly. It may act as a transient adaptor and plays a regulatory role in the assembly of sarcomeres. Four alternatively spliced transcript variants encoding distinct isoforms have been described.

Source: NCBI Gene 84675 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 95 total
• MANE Select transcript: NM_184085

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14215
Approved symbol	TRIM55
Name	tripartite motif containing 55
Location	8q13.1
Locus type	gene with protein product
Status	Approved
Aliases	MURF-2
Ensembl gene	ENSG00000147573
Ensembl biotype	protein_coding
OMIM	606469
Entrez	84675

Gene structure

Transcript identifiers

Ensembl transcripts: 13 — 12 protein_coding, 1 retained_intron

ENST00000276573, ENST00000315962, ENST00000350034, ENST00000353317, ENST00000517647, ENST00000857325, ENST00000857326, ENST00000857327, ENST00000956548, ENST00000956549, ENST00000956550, ENST00000956551, ENST00000956552

RefSeq mRNA: 4 — MANE Select: NM_184085 NM_033058, NM_184085, NM_184086, NM_184087

CCDS: CCDS6184, CCDS6185, CCDS6186, CCDS6187

Canonical transcript exons

ENST00000315962 — 10 exons

Exon	Start	End
ENSE00000980703	66128304	66128476
ENSE00000980704	66134990	66135155
ENSE00000980705	66137095	66137190
ENSE00000980706	66149645	66149878
ENSE00000980707	66150217	66150239
ENSE00000980708	66150342	66150466
ENSE00000980709	66152377	66152627
ENSE00000980710	66154047	66154334
ENSE00002132639	66174471	66175485
ENSE00003850286	66127129	66127436

Expression profiles

Bgee: expression breadth ubiquitous, 152 present calls, max score 94.54.

FANTOM5 (CAGE): breadth broad, TPM avg 2.7998 / max 389.7152, expressed in 338 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
89173	2.3240	309
89175	0.2219	81
89174	0.0878	37
89176	0.0853	38
89172	0.0488	14
89171	0.0172	3
89179	0.0148	5

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right atrium auricular region	UBERON:0006631	94.54	gold quality
cardiac atrium	UBERON:0002081	94.00	gold quality
left ventricle myocardium	UBERON:0006566	92.95	gold quality
myocardium	UBERON:0002349	92.86	gold quality
heart left ventricle	UBERON:0002084	92.47	gold quality
cardiac muscle of right atrium	UBERON:0003379	92.25	gold quality
cardiac ventricle	UBERON:0002082	91.87	gold quality
apex of heart	UBERON:0002098	90.88	gold quality
hindlimb stylopod muscle	UBERON:0004252	90.37	gold quality
deltoid	UBERON:0001476	88.73	gold quality
tibialis anterior	UBERON:0001385	88.67	silver quality
right lobe of liver	UBERON:0001114	88.50	gold quality
heart	UBERON:0000948	88.21	gold quality
gastrocnemius	UBERON:0001388	87.07	gold quality
muscle of leg	UBERON:0001383	85.97	gold quality
biceps brachii	UBERON:0001507	84.96	gold quality
liver	UBERON:0002107	84.11	gold quality
heart right ventricle	UBERON:0002080	83.68	gold quality
skeletal muscle tissue	UBERON:0001134	82.42	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	81.73	gold quality
right testis	UBERON:0004534	81.70	gold quality
quadriceps femoris	UBERON:0001377	81.50	silver quality
left testis	UBERON:0004533	81.44	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	80.78	gold quality
muscle tissue	UBERON:0002385	80.72	gold quality
vastus lateralis	UBERON:0001379	80.57	silver quality
testis	UBERON:0000473	79.99	gold quality
right uterine tube	UBERON:0001302	74.49	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	72.51	gold quality
oviduct epithelium	UBERON:0004804	70.15	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.47

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

80 targeting TRIM55, 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-5011-5P	100.00	83.46	5820
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-3064-3P	100.00	70.09	1254
HSA-MIR-3692-3P	99.98	70.27	2139
HSA-MIR-568	99.98	69.86	2084
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-3912-5P	99.95	66.11	925
HSA-MIR-4648	99.91	67.00	710
HSA-MIR-374A-5P	99.90	71.34	2923
HSA-MIR-374B-5P	99.90	69.98	2734
HSA-MIR-5582-3P	99.86	72.48	4221
HSA-MIR-544A	99.84	68.66	1965
HSA-MIR-548AJ-5P	99.78	71.12	3085
HSA-MIR-548F-5P	99.78	71.02	3093
HSA-MIR-548G-5P	99.78	71.12	3085
HSA-MIR-548X-5P	99.78	71.12	3085
HSA-MIR-1299	99.77	71.24	2389
HSA-MIR-1825	99.72	68.11	1089
HSA-MIR-494-3P	99.70	71.45	2795
HSA-MIR-1208	99.70	68.28	1533
HSA-MIR-4729	99.69	72.18	4233
HSA-MIR-3679-3P	99.64	69.88	1599
HSA-MIR-5003-5P	99.61	69.13	1624
HSA-MIR-516B-5P	99.56	66.33	1495
HSA-MIR-190A-5P	99.54	71.45	933
HSA-MIR-190B-5P	99.54	71.40	925
HSA-MIR-5007-3P	99.51	68.14	1242
HSA-MIR-4489	99.50	65.56	785
HSA-MIR-4643	99.49	67.63	1791

Literature-anchored findings (GeneRIF, showing 4)

• Overexpression of TRIM55 was associated with lower cell migration and invasion ability, and it led to high expression of E-cadherin and low expression of Vimentin and MMP2. (PMID:30685767)
• Genetic and functional implications of an exonic TRIM55 variant in heart failure. (PMID:31866377)
• TRIM55 inhibits colorectal cancer development via enhancing protein degradation of c-Myc. (PMID:37212463)
• SUMO-3 promotes the ubiquitin-dependent turnover of TRIM55. (PMID:37703582)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	trim55a	ENSDARG00000029596
danio_rerio	trim55b	ENSDARG00000058158
mus_musculus	Trim55	ENSMUSG00000060913
rattus_norvegicus	Trim55	ENSRNOG00000012723

Paralogs (80): MID2 (ENSG00000080561), TRIM9 (ENSG00000100505), MID1 (ENSG00000101871), MEFV (ENSG00000103313), TRIM35 (ENSG00000104228), TRIM14 (ENSG00000106785), TRIM37 (ENSG00000108395), TRIM2 (ENSG00000109654), TRIM3 (ENSG00000110171), TRIM38 (ENSG00000112343), TRIM62 (ENSG00000116525), TRIM67 (ENSG00000119283), TRIM32 (ENSG00000119401), BSPRY (ENSG00000119411), TRIM25 (ENSG00000121060), TRIM6 (ENSG00000121236), TRIM24 (ENSG00000122779), TRIM51 (ENSG00000124900), TRIM28 (ENSG00000130726), TRIM21 (ENSG00000132109), TRIM5 (ENSG00000132256), TRIM22 (ENSG00000132274), TRIM47 (ENSG00000132481), TRIM45 (ENSG00000134253), TRIM29 (ENSG00000137699), TRIM54 (ENSG00000138100), PML (ENSG00000140464), TRIM65 (ENSG00000141569), TRIM43B (ENSG00000144010), TRIM43 (ENSG00000144015), TRIM7 (ENSG00000146054), TRIM41 (ENSG00000146063), TRIM50 (ENSG00000146755), TRIM4 (ENSG00000146833), TRIM48 (ENSG00000150244), TRIM36 (ENSG00000152503), TRIM11 (ENSG00000154370), TRIM74 (ENSG00000155428), TRIM42 (ENSG00000155890), TRIM63 (ENSG00000158022)

Protein

Protein identifiers

Tripartite motif-containing protein 55 — Q9BYV6 (reviewed: Q9BYV6)

Alternative names: Muscle-specific RING finger protein 2, RING finger protein 29

All UniProt accessions (1): Q9BYV6

UniProt curated annotations — full annotation on UniProt →

Function. E3 ubiquitin ligase that plays an important role in regulating cardiac development and contractility, muscle growth, metabolism, and fiber-type differentiation. Acts as a critical factor that regulates cardiomyocyte size during development in concert with TRIM63 by regulating E2F1-mediated gene expression. Plays a role in apoptosis induction in cardiomyocytes by promoting ubiquitination of the DUSP1 phosphatase. Promotes non-canonical NF-kappa-B signaling and B-cell-mediated immune responses by mediating NFKB2 ‘Lys-48’-linked ubiquitination and processing. In turn, NFKB2 is further processed by valosin-containing protein/VCP, an ATPase that mediates ubiquitin-dependent protein degradation by the proteasome. May play a role in preventing macrophages from producing inflammatory factors and migrating by downregulating the level of nuclear NF-kappa-B subunit RELA. Also modifies PPARG via polyubiquitination and accelerates PPARG proteasomal degradation to inhibit its activity.

Subunit / interactions. Homooligomer and heterooligomer. Interacts with titin/TTN. Interacts with myosins. Interacts with SQSTM1 and NBR1. Isoform 4 may not able to interact with isoform 1, isoform 2 and isoform 3. Probably interacts with TRIM63 and TRIM54.

Subcellular location. Nucleus. Cytoplasm.

Tissue specificity. Highly expressed in muscle. Low-level expression in liver.

Post-translational modifications. Targeted for degradation through the proteasomal and lysosomal pathways in the presence of SUMO3.

Isoforms (4)

UniProt ID	Names	Canonical?
Q9BYV6-1	1, p60	yes
Q9BYV6-2	2, p50
Q9BYV6-3	3, p60B
Q9BYV6-4	4, p27

RefSeq proteins (4): NP_149047, NP_908973, NP_908974, NP_908975 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000315	Znf_B-box	Domain
IPR001841	Znf_RING	Domain
IPR013083	Znf_RING/FYVE/PHD	Homologous_superfamily
IPR017903	COS_domain	Domain
IPR017907	Znf_RING_CS	Conserved_site
IPR027370	Znf-RING_euk	Domain
IPR050617	E3_ligase_FN3/SPRY	Family

Pfam: PF00643, PF13445

UniProt features (35 total): sequence variant 16, binding site 4, compositionally biased region 4, splice variant 3, zinc finger region 2, sequence conflict 2, chain 1, domain 1, region of interest 1, coiled-coil region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BYV6-F1	69.07	0.42

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Ligand- & substrate-binding residues (4): 124; 127; 147; 153

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 99 (showing top): GOBP_MYELOID_LEUKOCYTE_MIGRATION, GGGTGGRR_PAX4_03, GOBP_CELLULAR_EXTRAVASATION, GOBP_LEUKOCYTE_MIGRATION, SRF_C, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, GOBP_POSITIVE_REGULATION_OF_NON_CANONICAL_NF_KAPPAB_SIGNAL_TRANSDUCTION, USF_01, TGIF_01, GOBP_REGULATION_OF_NON_CANONICAL_NF_KAPPAB_SIGNAL_TRANSDUCTION, GOBP_NON_CANONICAL_NF_KAPPAB_SIGNAL_TRANSDUCTION, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, GOBP_PROTEIN_POLYUBIQUITINATION, GOBP_POSITIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, NKX25_01

GO Biological Process (12): leukocyte migration involved in inflammatory response (GO:0002523), signal transduction (GO:0007165), macrophage activation (GO:0042116), innate immune response (GO:0045087), diapedesis (GO:0050904), defense response to virus (GO:0051607), protein K48-linked ubiquitination (GO:0070936), positive regulation of non-canonical NF-kappaB signal transduction (GO:1901224), macrophage migration (GO:1905517), inflammatory response (GO:0006954), canonical NF-kappaB signal transduction (GO:0007249), protein K63-linked ubiquitination (GO:0070534)

GO Molecular Function (8): zinc ion binding (GO:0008270), identical protein binding (GO:0042802), ubiquitin protein ligase activity (GO:0061630), ubiquitin-like ligase-substrate adaptor activity (GO:1990756), protein binding (GO:0005515), transferase activity (GO:0016740), protein-macromolecule adaptor activity (GO:0030674), metal ion binding (GO:0046872)

GO Cellular Component (3): nucleus (GO:0005634), cytoplasm (GO:0005737), microtubule (GO:0005874)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
leukocyte migration	2
defense response	2
protein polyubiquitination	2
protein binding	2
inflammatory response	1
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
myeloid leukocyte activation	1
immune response	1
defense response to symbiont	1
cellular extravasation	1
response to virus	1
non-canonical NF-kappaB signal transduction	1
regulation of non-canonical NF-kappaB signal transduction	1
positive regulation of intracellular signal transduction	1
mononuclear cell migration	1
myeloid leukocyte migration	1
intracellular signaling cassette	1
transition metal ion binding	1
ubiquitin-protein transferase activity	1
ubiquitin-like protein ligase activity	1
enzyme-substrate adaptor activity	1
binding	1
catalytic activity	1
molecular adaptor activity	1
cation binding	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
cellular anatomical structure	1
microtubule cytoskeleton	1
polymeric cytoskeletal fiber	1

Protein interactions and networks

STRING

1371 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TRIM55	TTN	Q8WZ42	891
TRIM55	BBOX1	O75936	847
TRIM55	NBR1	Q14596	736
TRIM55	SQSTM1	Q13501	616
TRIM55	A0A0A6YYA0	A0A0A6YYA0	512
TRIM55	TRIM52	Q96A61	507
TRIM55	TICAM2	Q86XR7	483
TRIM55	TRIM5	Q9C035	450
TRIM55	MT-CYB	P00156	435
TRIM55	SUMO2	P55855	432
TRIM55	TRAT1	Q6PIZ9	430
TRIM55	UBD	O15205	430
TRIM55	TRIM35	Q9UPQ4	419
TRIM55	TRIM77	I1YAP6	419
TRIM55	MT-CO3	P00414	404
TRIM55	KBTBD12	Q3ZCT8	404

IntAct

221 interactions, top by confidence:

A	B	Type	Score
TRIM55	USP13	psi-mi:“MI:0915”(physical association)	0.510
TRIM55	USP35	psi-mi:“MI:0915”(physical association)	0.400
TRIM55	MYLK2	psi-mi:“MI:0915”(physical association)	0.400
TRIM55	Arhgef7	psi-mi:“MI:0914”(association)	0.350
TRIM55	ZNF566	psi-mi:“MI:0915”(physical association)	0.000
TRIM55	TSC2	psi-mi:“MI:0915”(physical association)	0.000
TRIM55		psi-mi:“MI:0915”(physical association)	0.000
TRIM55	TMBIM1	psi-mi:“MI:0915”(physical association)	0.000
TRIM55	RUSC1	psi-mi:“MI:0915”(physical association)	0.000
TRIM55	MMTAG2	psi-mi:“MI:0915”(physical association)	0.000
TRIM55	ZC2HC1C	psi-mi:“MI:0915”(physical association)	0.000
TRIM55	C8orf74	psi-mi:“MI:0915”(physical association)	0.000
TRIM55	SHFL	psi-mi:“MI:0915”(physical association)	0.000
TRIM55	INCA1	psi-mi:“MI:0915”(physical association)	0.000
TRIM55	DOCK7	psi-mi:“MI:0915”(physical association)	0.000
TRIM55	BRWD1	psi-mi:“MI:0915”(physical association)	0.000
TRIM55	AEBP2	psi-mi:“MI:0915”(physical association)	0.000
TRIM55	SPSB1	psi-mi:“MI:0915”(physical association)	0.000
TRIM55	SPSB2	psi-mi:“MI:0915”(physical association)	0.000
TRIM55	POLR2E	psi-mi:“MI:0915”(physical association)	0.000
TRIM55	ZC3H12A	psi-mi:“MI:0915”(physical association)	0.000
TRIM55	MAGEC3	psi-mi:“MI:0915”(physical association)	0.000
TRIM55	C3orf36	psi-mi:“MI:0915”(physical association)	0.000
TRIM55	MBIP	psi-mi:“MI:0915”(physical association)	0.000
TRIM55	GOLGA2P5	psi-mi:“MI:0915”(physical association)	0.000
TRIM55	DAPL1	psi-mi:“MI:0915”(physical association)	0.000
TRIM55	AGO2	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (503): DES (Two-hybrid), TRIM63 (Two-hybrid), ACTA1 (Two-hybrid), MYOT (Two-hybrid), TNNI3 (Two-hybrid), TNNI2 (Two-hybrid), TNNI1 (Two-hybrid), MYBPC3 (Two-hybrid), MYBPC1 (Two-hybrid), TTN (Two-hybrid), TCAP (Two-hybrid), NEB (Two-hybrid), NEBL (Two-hybrid), FLNA (Two-hybrid), FLNB (Two-hybrid)

ESM2 similar proteins: A0JNG4, A1L4K1, A6QQX5, G3X8Y1, H0UZ81, I1VZH0, O95361, P18302, P97432, Q15554, Q38HM4, Q3UFB2, Q3V3A7, Q501R9, Q505B8, Q58D15, Q5EAN7, Q5PQN5, Q5R760, Q5R846, Q5RC94, Q5REJ9, Q5RF77, Q5T7N3, Q5XIH6, Q60953, Q62881, Q6P752, Q6PIF2, Q6QA27, Q6ZRF8, Q810L3, Q8BSI6, Q8BYU6, Q8BZ52, Q8N9B5, Q91VL8, Q91Z63, Q969Q1, Q96DX7

Diamond homologs: A5D7F8, A5D8S5, G3X8Y1, H0UZ81, O60858, Q28E95, Q32L60, Q38HM4, Q3KPU8, Q3U9F6, Q58D15, Q5F3B2, Q5PQN5, Q5RBR0, Q5REJ9, Q5XIH6, Q69ZI1, Q6J1I7, Q6NRD3, Q71F54, Q7Z6J0, Q8C120, Q8TEJ3, Q91Z63, Q969Q1, Q96A37, Q99PJ2, Q9BRZ2, Q9BYV2, Q9BYV6, Q9BZR9, Q9ERP3, Q498M5, Q8BYN5, Q8BZT2, Q8TEC5, Q9BXM9, O14212, P19474, P33288

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
Ub:E2	“up-regulates activity”	TRIM55	ubiquitination

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	71
Likely benign	12
Benign	6

Top pathogenic / likely-pathogenic (0)

SpliceAI

1432 predictions. Top by Δscore:

Variant	Effect	Δscore
8:66137093:A:AG	acceptor_gain	1.0000
8:66137093:AGTCT:A	acceptor_gain	1.0000
8:66137094:G:GC	acceptor_gain	1.0000
8:66137094:GT:G	acceptor_gain	1.0000
8:66137094:GTC:G	acceptor_gain	1.0000
8:66137094:GTCT:G	acceptor_gain	1.0000
8:66137094:GTCTG:G	acceptor_gain	1.0000
8:66149875:GCAG:G	donor_gain	1.0000
8:66149878:GGTA:G	donor_loss	1.0000
8:66149879:G:A	donor_loss	1.0000
8:66149880:T:G	donor_loss	1.0000
8:66150341:GA:G	acceptor_gain	1.0000
8:66150439:A:G	donor_gain	1.0000
8:66127433:CCAG:C	donor_loss	0.9900
8:66128292:T:A	acceptor_gain	0.9900
8:66128297:A:G	acceptor_gain	0.9900
8:66134987:CA:C	acceptor_loss	0.9900
8:66134988:A:AG	acceptor_gain	0.9900
8:66134989:G:GG	acceptor_gain	0.9900
8:66134989:GGCCA:G	acceptor_gain	0.9900
8:66135066:G:GT	donor_gain	0.9900
8:66135152:GAAG:G	donor_gain	0.9900
8:66135155:GGTA:G	donor_loss	0.9900
8:66135156:G:GA	donor_loss	0.9900
8:66135157:T:A	donor_loss	0.9900
8:66137090:A:AG	acceptor_gain	0.9900
8:66137091:T:G	acceptor_gain	0.9900
8:66137188:GAG:G	donor_gain	0.9900
8:66137189:AGGT:A	donor_loss	0.9900
8:66137191:GTG:G	donor_loss	0.9900

AlphaMissense

3605 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
8:66127339:T:A	L24H	1.000
8:66127339:T:C	L24P	1.000
8:66127344:T:A	C26S	1.000
8:66127344:T:C	C26R	1.000
8:66127345:G:A	C26Y	1.000
8:66127345:G:C	C26S	1.000
8:66127346:T:G	C26W	1.000
8:66127353:T:A	C29S	1.000
8:66127353:T:C	C29R	1.000
8:66127354:G:A	C29Y	1.000
8:66127354:G:C	C29S	1.000
8:66127355:C:G	C29W	1.000
8:66127366:T:C	F33S	1.000
8:66127374:C:T	P36S	1.000
8:66127375:C:A	P36H	1.000
8:66127375:C:G	P36R	1.000
8:66127387:T:C	L40P	1.000
8:66127392:T:C	C42R	1.000
8:66127393:G:A	C42Y	1.000
8:66127394:T:G	C42W	1.000
8:66127398:C:G	H44D	1.000
8:66127400:C:A	H44Q	1.000
8:66127400:C:G	H44Q	1.000
8:66127403:C:A	N45K	1.000
8:66127403:C:G	N45K	1.000
8:66127405:T:C	L46P	1.000
8:66127407:T:A	C47S	1.000
8:66127407:T:C	C47R	1.000
8:66127408:G:A	C47Y	1.000
8:66127408:G:C	C47S	1.000

dbSNP variants (sampled 300 via entrez): RS1000042992 (8:66151511 A>G), RS1000274361 (8:66132943 A>G), RS1000275819 (8:66134107 T>A,C), RS1000326838 (8:66122368 C>T), RS1000383049 (8:66140105 G>A), RS1000385355 (8:66145002 T>A), RS1000456739 (8:66170864 T>C), RS1000497650 (8:66111546 CACTT>C), RS1000540886 (8:66175965 A>G), RS1000597555 (8:66175895 A>C,G,T), RS1000614834 (8:66133917 A>G), RS1000651395 (8:66133375 G>C), RS1000709350 (8:66134430 A>C), RS1000718802 (8:66138798 T>C), RS1000782343 (8:66140192 A>C,G)

Disease associations

OMIM: gene MIM:606469 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST001545_1	Coronary heart disease event reduction (statin therapy interaction)	5.000000e-07
GCST005230_17	Recurrent major depressive disorder	3.000000e-06
GCST009391_2138	Metabolite levels	9.000000e-07

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0010384	phosphatidylcholine 38:2 measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

23 total (human), top 23 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, increases expression	4
Aflatoxin B1	decreases methylation, increases expression, increases methylation	3
Benzo(a)pyrene	affects methylation, increases expression	2
Nickel	decreases expression	2
Cyclosporine	increases expression	2
aristolochic acid I	increases expression	1
sodium arsenite	increases expression	1
potassium chromate(VI)	decreases expression	1
S-(1,2-dichlorovinyl)cysteine	increases expression	1
perfluorooctane sulfonic acid	increases expression	1
2-palmitoylglycerol	increases expression	1
abrine	increases expression	1
Grape Seed Proanthocyanidins	affects cotreatment, decreases expression	1
incobotulinumtoxinA	decreases expression	1
2,6-dichloro-(1,4)benzoquinone	increases expression	1
Zoledronic Acid	increases expression	1
Catechin	affects cotreatment, decreases expression	1
Diethylhexyl Phthalate	increases expression	1
Estradiol	increases expression	1
Methylcholanthrene	increases reaction, affects binding	1
Smoke	increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Triclosan	decreases expression	1

Clinical trials (associated diseases)

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