TRIM41

Summary

TRIM41 (tripartite motif containing 41, HGNC:19013) is a protein-coding gene on chromosome 5q35.3, encoding E3 ubiquitin-protein ligase TRIM41 (Q8WV44). E3 ligase that plays essential roles in innate antiviral response.

This gene encodes a member of the tripartite motif (TRIM) family. The TRIM family is characterized by a signature motif composed of a RING finger, one or more B-box domains, and a coiled-coil region. This encoded protein may play a role in protein kinase C signaling. Multiple transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 90933 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 139 total
• MANE Select transcript: NM_033549

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:19013
Approved symbol	TRIM41
Name	tripartite motif containing 41
Location	5q35.3
Locus type	gene with protein product
Status	Approved
Aliases	MGC1127, RINCK
Ensembl gene	ENSG00000146063
Ensembl biotype	protein_coding
OMIM	610530
Entrez	90933

Gene structure

Transcript identifiers

Ensembl transcripts: 10 — 4 protein_coding, 3 retained_intron, 2 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000315073, ENST00000351937, ENST00000503114, ENST00000508930, ENST00000510072, ENST00000514219, ENST00000515223, ENST00000515499, ENST00000515834, ENST00000906007

RefSeq mRNA: 2 — MANE Select: NM_033549 NM_033549, NM_201627

CCDS: CCDS4465, CCDS4466

Canonical transcript exons

ENST00000315073 — 6 exons

Exon	Start	End
ENSE00001096868	181233413	181233435
ENSE00001345165	181234174	181235808
ENSE00003561394	181232659	181232889
ENSE00003569282	181233636	181233763
ENSE00003579589	181230744	181230839
ENSE00003844969	181223281	181224812

Expression profiles

Bgee: expression breadth ubiquitous, 256 present calls, max score 96.71.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 15.7072 / max 100.1468, expressed in 1811 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
60683	9.8865	1804
60685	2.6118	1066
60684	1.9719	1192
60686	0.9895	557
60682	0.2476	94

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
C1 segment of cervical spinal cord	UBERON:0006469	96.71	gold quality
medial globus pallidus	UBERON:0002477	96.63	gold quality
spinal cord	UBERON:0002240	96.39	gold quality
globus pallidus	UBERON:0001875	95.80	gold quality
inferior vagus X ganglion	UBERON:0005363	95.61	gold quality
subthalamic nucleus	UBERON:0001906	94.62	gold quality
substantia nigra	UBERON:0002038	94.46	gold quality
midbrain	UBERON:0001891	94.34	gold quality
amygdala	UBERON:0001876	93.79	gold quality
medulla oblongata	UBERON:0001896	93.69	gold quality
dorsal plus ventral thalamus	UBERON:0001897	93.55	gold quality
ventral tegmental area	UBERON:0002691	93.51	gold quality
upper arm skin	UBERON:0004263	93.38	gold quality
superior vestibular nucleus	UBERON:0007227	93.17	gold quality
tendon of biceps brachii	UBERON:0008188	93.09	gold quality
putamen	UBERON:0001874	92.93	gold quality
hypothalamus	UBERON:0001898	92.66	gold quality
thymus	UBERON:0002370	92.52	gold quality
right testis	UBERON:0004534	92.43	gold quality
pons	UBERON:0000988	92.28	gold quality
left testis	UBERON:0004533	92.26	gold quality
Ammon’s horn	UBERON:0001954	91.49	gold quality
left ventricle myocardium	UBERON:0006566	91.45	gold quality
kidney epithelium	UBERON:0004819	91.21	gold quality
cardiac muscle of right atrium	UBERON:0003379	91.14	silver quality
nasal cavity epithelium	UBERON:0005384	91.06	gold quality
anterior cingulate cortex	UBERON:0009835	90.69	gold quality
lateral globus pallidus	UBERON:0002476	90.58	gold quality
temporal lobe	UBERON:0001871	90.48	gold quality
nucleus accumbens	UBERON:0001882	90.41	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.23
E-GEOD-100618	no	65.83

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

17 targeting TRIM41, 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-4725-3P	99.96	69.53	2520
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-380-3P	99.89	70.18	1978
HSA-MIR-4271	99.88	68.32	2244
HSA-MIR-6794-5P	99.76	66.38	1048
HSA-MIR-4716-3P	99.69	66.73	1022
HSA-MIR-29B-2-5P	99.67	68.98	1726
HSA-MIR-3682-3P	99.58	67.63	865
HSA-MIR-186-3P	99.51	66.24	1685
HSA-MIR-3171	99.49	69.06	776
HSA-MIR-625-5P	99.02	68.64	2031
HSA-MIR-181A-2-3P	98.91	67.60	1168
HSA-MIR-10526-3P	97.86	64.97	1342
HSA-MIR-2467-5P	97.36	67.71	991
HSA-MIR-6772-3P	97.04	65.89	784
HSA-MIR-3192-5P	96.98	65.76	1926
HSA-MIR-3622B-5P	94.62	64.58	835

Literature-anchored findings (GeneRIF, showing 8)

• observed in the cytoplasm and the nucleus; nuclear transport is mediated by an N-terminal segment common to both alpha and beta isoforms, but independent of a classical nuclear localization signal sequence. (PMID:16022281)
• RINCK is an E3 ligase that specifically recognizes the C1 domain of PKC isoforms (PMID:17893151)
• Taking these observations together, TRIM41 is a constitutively expressed intrinsic influenza A virus restriction factor that targets viral NP for ubiquitination and protein degradation. (PMID:29899090)
• deregulation of the TRIM17/TRIM41/ZSCAN21 pathway may be involved in the pathogenesis of Parkinson’s disease. (PMID:30485814)
• TRIM41-Mediated Ubiquitination of Nucleoprotein Limits Vesicular Stomatitis Virus Infection. (PMID:31979016)
• TRIM41 is required to innate antiviral response by polyubiquitinating BCL10 and recruiting NEMO. (PMID:33640899)
• ANXA10 promotes melanoma metastasis by suppressing E3 ligase TRIM41-directed PKD1 degradation. (PMID:34324862)
• Nuclear cGAS restricts L1 retrotransposition by promoting TRIM41-mediated ORF2p ubiquitination and degradation. (PMID:38086852)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	si:dkey-29p10.4	ENSDARG00000017173
mus_musculus	Trim41	ENSMUSG00000040365
rattus_norvegicus	Trim41	ENSRNOG00000002388

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), TRIM50 (ENSG00000146755), TRIM4 (ENSG00000146833), TRIM55 (ENSG00000147573), TRIM48 (ENSG00000150244), TRIM36 (ENSG00000152503), TRIM11 (ENSG00000154370), TRIM74 (ENSG00000155428), TRIM42 (ENSG00000155890), TRIM63 (ENSG00000158022)

Protein

Protein identifiers

E3 ubiquitin-protein ligase TRIM41 — Q8WV44 (reviewed: Q8WV44)

Alternative names: RING finger-interacting protein with C kinase, Tripartite motif-containing protein 41

All UniProt accessions (4): Q8WV44, D6REK2, H0Y9T3, H0YAD6

UniProt curated annotations — full annotation on UniProt →

Function. E3 ligase that plays essential roles in innate antiviral response. Directly binds to influenza A virus or vesicular stomatitis virus nucleoproteins and targets them for ubiquitination and proteasomal degradation, thereby limiting viral infections. Activates the innate antiviral response by catalyzing monoubiquitination of CGAS, thereby activating CGAS. Also involved in innate antiviral response by mediating ‘Lys-63’-linked polyubiquitylation of BCL10 which in turn hubs NEMO for activation of NF-kappa-B and IRF3 pathways. Catalyzes the ubiquitin-mediated degradation of other substrates including protein kinase C, ZSCAN21 or TOP3B suggesting additional roles besides its function in immune response.

Subunit / interactions. Interacts with PRKCA. Interacts with NOD2. Interacts with TRIM17; this interaction prevents TRIM41 activity on ZSCAN2.

Subcellular location. Cytoplasm. Nucleus.

Tissue specificity. Expressed in multiple tissues with the highest levels in heart and skeletal muscle.

Post-translational modifications. Auto-ubiquitinated.

Induction. Down-regulated by muramyl-dipeptide and lipopolysaccharide.

Pathway. Protein modification; protein ubiquitination.

Similarity. Belongs to the TRIM/RBCC family.

Isoforms (4)

UniProt ID	Names	Canonical?
Q8WV44-1	1, TRIM41a, TRIM41alpha	yes
Q8WV44-2	2, TRIM41b, TRIM41beta, RINCK1
Q8WV44-3	3
Q8WV44-4	4, RINCK2

RefSeq proteins (2): NP_291027, NP_963921 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000315	Znf_B-box	Domain
IPR001841	Znf_RING	Domain
IPR001870	B30.2/SPRY	Domain
IPR003877	SPRY_dom	Domain
IPR003879	Butyrophylin_SPRY	Domain
IPR006574	PRY	Domain
IPR013083	Znf_RING/FYVE/PHD	Homologous_superfamily
IPR013320	ConA-like_dom_sf	Homologous_superfamily
IPR017907	Znf_RING_CS	Conserved_site
IPR042828	TRIM41_SPRY_PRY	Domain
IPR043136	B30.2/SPRY_sf	Homologous_superfamily
IPR050143	TRIM/RBCC	Family

Pfam: PF00622, PF00643, PF13765, PF15227

UniProt features (33 total): splice variant 5, binding site 4, compositionally biased region 3, region of interest 3, modified residue 2, zinc finger region 2, sequence variant 2, turn 2, strand 2, helix 2, chain 1, domain 1, cross-link 1, mutagenesis site 1, sequence conflict 1, coiled-coil region 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
2EGM	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8WV44-F1	72.76	0.34

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): 227; 230; 249; 255

Post-translational modifications (3): 84, 447, 256

Mutagenesis-validated functional residues (1):

Position	Phenotype
20	abolishes e3 ligase activity.

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-983168	Antigen processing: Ubiquitination & Proteasome degradation

MSigDB gene sets: 180 (showing top): GOBP_RESPONSE_TO_NITROGEN_COMPOUND, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, GOBP_RESPONSE_TO_PEPTIDE, GOBP_CELLULAR_RESPONSE_TO_LIPID, REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION, REACTOME_ANTIGEN_PROCESSING_UBIQUITINATION_PROTEASOME_DEGRADATION, GOBP_CELLULAR_RESPONSE_TO_BIOTIC_STIMULUS, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GOBP_RESPONSE_TO_TYPE_I_INTERFERON, GGGTGGRR_PAX4_03, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GOBP_RESPONSE_TO_MURAMYL_DIPEPTIDE, GOBP_POSITIVE_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS, GOBP_REGULATION_OF_IMMUNE_RESPONSE, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM

GO Biological Process (8): protein monoubiquitination (GO:0006513), innate immune response (GO:0045087), defense response to virus (GO:0051607), positive regulation of type I interferon-mediated signaling pathway (GO:0060340), cellular response to lipopolysaccharide (GO:0071222), cellular response to muramyl dipeptide (GO:0071225), positive regulation of signal transduction (GO:0009967), protein ubiquitination (GO:0016567)

GO Molecular Function (6): zinc ion binding (GO:0008270), identical protein binding (GO:0042802), ubiquitin protein ligase activity (GO:0061630), protein binding (GO:0005515), transferase activity (GO:0016740), metal ion binding (GO:0046872)

GO Cellular Component (5): fibrillar center (GO:0001650), nucleoplasm (GO:0005654), cytosol (GO:0005829), nucleus (GO:0005634), cytoplasm (GO:0005737)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Class I MHC mediated antigen processing & presentation	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
cellular response to oxygen-containing compound	2
protein ubiquitination	1
immune response	1
defense response to symbiont	1
defense response	1
response to virus	1
positive regulation of cytokine-mediated signaling pathway	1
positive regulation of innate immune response	1
type I interferon-mediated signaling pathway	1
regulation of type I interferon-mediated signaling pathway	1
response to lipopolysaccharide	1
cellular response to molecule of bacterial origin	1
cellular response to lipid	1
response to muramyl dipeptide	1
cellular response to nitrogen compound	1
signal transduction	1
regulation of signal transduction	1
positive regulation of cell communication	1
positive regulation of signaling	1
positive regulation of response to stimulus	1
protein modification by small protein conjugation	1
transition metal ion binding	1
protein binding	1
ubiquitin-protein transferase activity	1
ubiquitin-like protein ligase activity	1
binding	1
catalytic activity	1
cation binding	1
nucleolus	1
nuclear lumen	1
cytoplasm	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

964 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TRIM41	TOP3B	O95985	852
TRIM41	TRAT1	Q6PIZ9	851
TRIM41	PRY	O14603	817
TRIM41	TRIM45	Q9H8W5	778
TRIM41	BBOX1	O75936	731
TRIM41	TRIM56	Q9BRZ2	610
TRIM41	TRIM32	Q13049	558
TRIM41	TRIM23	P36406	534
TRIM41	TRIM44	Q96DX7	531
TRIM41	ZSCAN21	Q9Y5A6	523
TRIM41	RNF185	Q96GF1	506
TRIM41	TRIM36	Q9NQ86	503
TRIM41	TRIM28	Q13263	496
TRIM41	TRIM66	O15016	495
TRIM41	MAGEB1	P43366	495

IntAct

578 interactions, top by confidence:

A	B	Type	Score
EHHADH	TRIM41	psi-mi:“MI:0915”(physical association)	0.870
TRIM41	EHHADH	psi-mi:“MI:0915”(physical association)	0.870
CSNK2A2	TRIM41	psi-mi:“MI:0915”(physical association)	0.780
TRIM41	ZNF490	psi-mi:“MI:0915”(physical association)	0.780
TRIM41	CSNK2A2	psi-mi:“MI:0915”(physical association)	0.780
ZNF490	TRIM41	psi-mi:“MI:0915”(physical association)	0.780
TRIM41	TRIM41	psi-mi:“MI:0915”(physical association)	0.740
TRIM41	ZNF473	psi-mi:“MI:0915”(physical association)	0.740
PRKCZ	NIPSNAP2	psi-mi:“MI:0914”(association)	0.730
ZBTB24	TRIM41	psi-mi:“MI:0915”(physical association)	0.720
TRIM41	NCK2	psi-mi:“MI:0915”(physical association)	0.720
ZNF250	TRIM41	psi-mi:“MI:0915”(physical association)	0.720
ZFP2	TRIM41	psi-mi:“MI:0915”(physical association)	0.720
TRIM41	ZNF417	psi-mi:“MI:0915”(physical association)	0.720
ZNF587	TRIM41	psi-mi:“MI:0915”(physical association)	0.720
ZNF670	TRIM41	psi-mi:“MI:0915”(physical association)	0.720
NCK2	TRIM41	psi-mi:“MI:0915”(physical association)	0.720
ZNF417	TRIM41	psi-mi:“MI:0915”(physical association)	0.720
TRIM41	ZNF587	psi-mi:“MI:0915”(physical association)	0.720
TRIM41	ZNF670	psi-mi:“MI:0915”(physical association)	0.720
TRIM41	ZBTB24	psi-mi:“MI:0915”(physical association)	0.720

BioGRID (295): TRIM41 (Two-hybrid), TRIM41 (Two-hybrid), TRIM41 (Two-hybrid), TRIM41 (Two-hybrid), TRIM41 (Two-hybrid), TRIM41 (Two-hybrid), TRIM41 (Two-hybrid), TRIM41 (Two-hybrid), TRIM41 (Two-hybrid), TRIM41 (Two-hybrid), TRIM41 (Two-hybrid), TRIM41 (Two-hybrid), TRIM41 (Two-hybrid), TRIM41 (Two-hybrid), TRIM41 (Two-hybrid)

ESM2 similar proteins: A0JPQ4, E1BD59, O15197, P0C0K6, P62603, Q14142, Q1XH17, Q1XH18, Q3UWZ0, Q5BK82, Q5JZY3, Q5M929, Q5NCC3, Q5RBG2, Q5RKG6, Q5TM55, Q5W0U4, Q640S6, Q6P6S3, Q6PGR9, Q6PJ69, Q6ZMU5, Q7TPM3, Q7YR32, Q80VI1, Q80X56, Q80YW5, Q810I1, Q810I2, Q865W2, Q86UV6, Q86UV7, Q86XT4, Q8BFW4, Q8BVW3, Q8BYG9, Q8C006, Q8C0E3, Q8IUD6, Q8K243

Diamond homologs: A0A2P1BRP3, A0A2P1BRQ0, A0ZSK3, A0ZSK4, B1H278, O95361, Q14142, Q1LY10, Q1XHU0, Q309B1, Q5BK82, Q5R760, Q6MFZ5, Q6P6S3, Q6UXG8, Q80X56, Q80YW5, Q8BVW3, Q8WV44, Q8WVV5, Q91453, Q96F44, Q98989, Q98993, Q99PP9, Q99PQ2, Q9ESN2, Q9HCM9, Q14258, Q4FZT8, Q61510, Q8WW59, Q91WK1, A0A0E4BZH1, A0JN74, A4QPC6, A6NGJ6, A6NI03, A6NK02, A6NLU0

SIGNOR signaling

4 interactions.

A	Effect	B	Mechanism
Ub:E2	“up-regulates activity”	TRIM41	ubiquitination
TRIM41	“down-regulates quantity by destabilization”	PRKCB	polyubiquitination
TRIM41	“down-regulates quantity by destabilization”	PRKCE	polyubiquitination
TRIM41	“up-regulates activity”	CGAS	ubiquitination

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	115
Likely benign	4
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

1455 predictions. Top by Δscore:

Variant	Effect	Δscore
5:181230733:T:TA	acceptor_gain	1.0000
5:181230742:A:AG	acceptor_gain	1.0000
5:181230742:AG:A	acceptor_gain	1.0000
5:181230743:G:GG	acceptor_gain	1.0000
5:181230743:GG:G	acceptor_gain	1.0000
5:181230743:GGC:G	acceptor_gain	1.0000
5:181230743:GGCC:G	acceptor_gain	1.0000
5:181230743:GGCCA:G	acceptor_gain	1.0000
5:181230837:AAGGT:A	donor_loss	1.0000
5:181230840:G:A	donor_loss	1.0000
5:181232985:G:A	acceptor_gain	1.0000
5:181223406:G:GT	donor_gain	0.9900
5:181224792:G:GT	donor_gain	0.9900
5:181224796:T:TA	donor_gain	0.9900
5:181224797:G:GA	donor_gain	0.9900
5:181224808:ACAAG:A	donor_loss	0.9900
5:181224810:AAGG:A	donor_loss	0.9900
5:181224813:GTGA:G	donor_loss	0.9900
5:181224814:T:G	donor_loss	0.9900
5:181230739:CTCAG:C	acceptor_gain	0.9900
5:181230740:TCA:T	acceptor_gain	0.9900
5:181230741:CAGGC:C	acceptor_gain	0.9900
5:181230742:AGGC:A	acceptor_gain	0.9900
5:181230822:C:T	donor_gain	0.9900
5:181232646:T:TA	acceptor_gain	0.9900
5:181232649:A:AG	acceptor_gain	0.9900
5:181232650:C:G	acceptor_gain	0.9900
5:181232657:A:AG	acceptor_gain	0.9900
5:181232658:G:GG	acceptor_gain	0.9900
5:181232658:GA:G	acceptor_gain	0.9900

AlphaMissense

4132 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:181224057:T:A	C20S	1.000
5:181224057:T:C	C20R	1.000
5:181224058:G:A	C20Y	1.000
5:181224058:G:C	C20S	1.000
5:181224059:C:G	C20W	1.000
5:181224064:T:A	I22N	1.000
5:181224066:T:C	C23R	1.000
5:181224079:T:C	F27S	1.000
5:181224088:C:A	P30H	1.000
5:181224102:T:A	C35S	1.000
5:181224102:T:C	C35R	1.000
5:181224103:G:A	C35Y	1.000
5:181224103:G:C	C35S	1.000
5:181224110:C:A	H37Q	1.000
5:181224110:C:G	H37Q	1.000
5:181224113:C:A	N38K	1.000
5:181224113:C:G	N38K	1.000
5:181224114:T:C	F39L	1.000
5:181224115:T:C	F39S	1.000
5:181224115:T:G	F39C	1.000
5:181224116:C:A	F39L	1.000
5:181224116:C:G	F39L	1.000
5:181224117:T:A	C40S	1.000
5:181224117:T:C	C40R	1.000
5:181224118:G:A	C40Y	1.000
5:181224118:G:C	C40S	1.000
5:181224119:C:G	C40W	1.000
5:181224126:T:A	C43S	1.000
5:181224126:T:C	C43R	1.000
5:181224127:G:A	C43Y	1.000

dbSNP variants (sampled 300 via entrez): RS1000123221 (5:181231791 C>A,T), RS1000433535 (5:181222227 G>A), RS1000508332 (5:181222143 C>T), RS1000781107 (5:181227359 AT>A,ATT), RS1000859379 (5:181232013 T>A), RS1000942115 (5:181230762 G>A,T), RS1001068131 (5:181235467 C>T), RS1001168769 (5:181223259 C>A,G,T), RS1001248345 (5:181230560 G>A), RS1001420629 (5:181236217 T>A), RS1001886994 (5:181221935 T>C), RS1001977326 (5:181223705 G>A), RS1001983824 (5:181233481 C>A), RS1002061319 (5:181234838 C>T), RS1002602622 (5:181229834 C>G,T)

Disease associations

OMIM: gene MIM:610530 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST012226_76	Waist circumference adjusted for body mass index	2.000000e-08
GCST012228_123	Waist-hip index	2.000000e-09
GCST012230_23	Waist-to-hip ratio adjusted for BMI	8.000000e-09
GCST90013406_263	Liver enzyme levels (alkaline phosphatase)	1.000000e-10

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0007789	BMI-adjusted waist circumference
EFO:0007788	BMI-adjusted waist-hip ratio
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

25 total (human), top 25 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Air Pollutants	affects expression, increases abundance, increases expression	2
aristolochic acid I	decreases expression	1
FR900359	affects phosphorylation	1
TAK-243	increases sumoylation	1
triphenyl phosphate	affects expression	1
bisphenol A	increases expression	1
sodium arsenite	affects cotreatment, decreases expression, increases abundance	1
manganese chloride	affects cotreatment, decreases expression, increases abundance	1
ICG 001	increases expression	1
abrine	increases expression	1
Sunitinib	decreases expression	1
Arsenic Trioxide	decreases expression	1
Acetaminophen	decreases expression	1
Arsenic	affects cotreatment, decreases expression, increases abundance	1
Atrazine	increases expression	1
Benzo(a)pyrene	increases methylation	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1
Doxorubicin	decreases expression	1
Manganese	affects cotreatment, decreases expression, increases abundance	1
Ozone	affects expression, increases abundance	1
Silicon Dioxide	decreases expression	1
Smoke	decreases expression	1
Urethane	increases expression	1
Cyclosporine	decreases expression	1
Particulate Matter	increases abundance, increases expression	1

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_TU23	HAP1 TRIM41 (-) 1	Cancer cell line	Male
CVCL_TU24	HAP1 TRIM41 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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