TRIM62

Summary

TRIM62 (tripartite motif containing 62, HGNC:25574) is a protein-coding gene on chromosome 1p35.1, encoding E3 ubiquitin-protein ligase TRIM62 (Q9BVG3). E3 ubiquitin ligase that plays a role in antifungal immunity by mediating ‘Lys-27’-linked ubiquitination of CARD9 downstream of C-type lectin receptors; leading to CARD9 activation, followed by activation of NF-kappa-B and MAP kinase p38 pathways.

Enables identical protein binding activity; transcription coactivator activity; and ubiquitin protein ligase activity. Involved in several processes, including negative regulation of viral transcription; positive regulation of NF-kappaB transcription factor activity; and positive regulation of antifungal innate immune response. Is active in cytoplasm.

Source: NCBI Gene 55223 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 18 total
• MANE Select transcript: NM_018207

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25574
Approved symbol	TRIM62
Name	tripartite motif containing 62
Location	1p35.1
Locus type	gene with protein product
Status	Approved
Aliases	FLJ10759, DEAR1
Ensembl gene	ENSG00000116525
Ensembl biotype	protein_coding
OMIM	616755
Entrez	55223

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 2 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000291416, ENST00000485148, ENST00000486583, ENST00000543586

RefSeq mRNA: 2 — MANE Select: NM_018207 NM_001330483, NM_018207

CCDS: CCDS376, CCDS81297

Canonical transcript exons

ENST00000291416 — 5 exons

Exon	Start	End
ENSE00000764397	33158253	33158368
ENSE00000764399	33159688	33159944
ENSE00001145339	33145399	33147727
ENSE00001891362	33181025	33182043
ENSE00003548228	33165471	33165566

Expression profiles

Bgee: expression breadth ubiquitous, 253 present calls, max score 95.40.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 11.5159 / max 129.6896, expressed in 1740 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
11609	10.5857	1723
11610	0.9302	607

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
oocyte	CL:0000023	95.40	gold quality
secondary oocyte	CL:0000655	92.49	gold quality
olfactory bulb	UBERON:0002264	90.13	gold quality
type B pancreatic cell	CL:0000169	89.23	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	86.61	gold quality
cervix squamous epithelium	UBERON:0006922	84.14	silver quality
tongue squamous epithelium	UBERON:0006919	82.59	gold quality
parotid gland	UBERON:0001831	82.37	silver quality
granulocyte	CL:0000094	81.66	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	81.42	gold quality
right hemisphere of cerebellum	UBERON:0014890	80.33	gold quality
skin of leg	UBERON:0001511	80.23	gold quality
substantia nigra pars reticulata	UBERON:0001966	80.01	gold quality
skin of abdomen	UBERON:0001416	79.80	gold quality
cerebellar cortex	UBERON:0002129	79.74	gold quality
cerebellar hemisphere	UBERON:0002245	79.68	gold quality
lateral globus pallidus	UBERON:0002476	79.67	gold quality
cerebellum	UBERON:0002037	79.56	gold quality
nasal cavity epithelium	UBERON:0005384	79.44	gold quality
endothelial cell	CL:0000115	79.43	silver quality
cerebellar vermis	UBERON:0004720	79.22	silver quality
subthalamic nucleus	UBERON:0001906	78.74	gold quality
zone of skin	UBERON:0000014	78.42	gold quality
triceps brachii	UBERON:0001509	78.42	gold quality
inferior olivary complex	UBERON:0002127	78.30	gold quality
cortical plate	UBERON:0005343	78.19	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	78.16	gold quality
gluteal muscle	UBERON:0002000	78.13	gold quality
inferior vagus X ganglion	UBERON:0005363	78.11	gold quality
left ventricle myocardium	UBERON:0006566	77.96	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.14

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

1 targets.

Target	Regulation
JUN	Activation

Upstream regulators (CollecTRI, top): ERF

miRNA regulators (miRDB)

57 targeting TRIM62, 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-450A-1-3P	100.00	69.33	1837
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-4267	99.96	66.53	2368
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-4447	99.85	67.81	2900
HSA-MIR-374C-5P	99.80	72.06	2910
HSA-MIR-655-3P	99.80	72.19	2909
HSA-MIR-7110-5P	99.80	67.84	1712
HSA-MIR-6842-5P	99.80	67.54	1587
HSA-MIR-4319	99.76	69.83	2586
HSA-MIR-4530	99.69	66.47	1509
HSA-MIR-4516	99.61	67.78	3390
HSA-MIR-6752-5P	99.59	67.32	1243
HSA-MIR-762	99.58	66.61	1994
HSA-MIR-1207-5P	99.49	69.11	2983
HSA-MIR-4498	99.47	67.42	2360
HSA-MIR-766-3P	99.47	65.24	1811
HSA-MIR-6513-5P	99.43	67.81	1071
HSA-MIR-32-3P	99.36	68.20	2517
HSA-MIR-5693	99.24	66.67	1106
HSA-MIR-5584-3P	99.23	68.79	1351
HSA-MIR-5787	99.22	67.86	2628
HSA-MIR-4291	99.20	68.88	2969
HSA-MIR-1253	99.12	67.08	1688
HSA-MIR-4763-3P	99.10	67.83	2649
HSA-MIR-4651	99.06	67.57	2002
HSA-MIR-5001-5P	99.05	66.76	1972
HSA-MIR-4297	98.77	66.95	2013
HSA-MIR-6840-3P	98.68	65.95	1923

Literature-anchored findings (GeneRIF, showing 11)

• DEAR1 is a predictive biomarker for early onset breast cancer. (PMID:19536324)
• The evidence for the genetic alteration and loss of expression of DEAR1 in breast cancer and for the functional role of DEAR1 in the dominant regulation of acinar morphogenesis in 3D culture (PMID:19536326)
• these data indicate that TRIM62, a cytoplasmic protein, is a RING finger domain-dependent E3 ubiquitin ligase that catalyzes self-ubiquitination both in vitro and in vivo. (PMID:23402750)
• results provide compelling evidence that DEAR1 is a critical tumor suppressor involved in multiple human cancers and provide a novel paradigm for regulation of TGF-beta-induced EMT through DEAR1’s regulation of SMAD3 protein levels (PMID:23838884)
• Low TRIM62 levels, consistent with a tumor suppressor role, represent an independent adverse prognostic factor in AML. (PMID:25248926)
• DEAR1 is important in the regulation of the breast tumor microenvironment, polarity, and epithelial-mesenchymal transition. [Review] (PMID:25261235)
• TRIM62 is a CARD9-binding partner. TRIM62 facilitated K27-linked poly-ubiquitination of CARD9. (PMID:26488816)
• Results found that TRIM62 was frequently down-regulated in both human cervical cancer (CC) cells and tissues. Low expression of TRIM62 in CC tissues was associated with aggressive clinicopathological features of CC patients. Its overexpression inhibits proliferation, migration and invasion of cervical cancer cells. (PMID:27793172)
• USP15 Deubiquitinates CARD9 to Downregulate C-Type Lectin Receptor-Mediated Signaling. (PMID:33093067)
• TRIM62 silencing represses the proliferation and invasion and increases the chemosensitivity of hepatocellular carcinoma cells by affecting the NF-kappaB pathway. (PMID:35469851)
• M2 macrophage-derived exosomal miR-193b-3p promotes progression and glutamine uptake of pancreatic cancer by targeting TRIM62. (PMID:36631876)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	trim62.1	ENSDARG00000060901
danio_rerio	trim62.2	ENSDARG00000095536
mus_musculus	Trim62	ENSMUSG00000041000
rattus_norvegicus	Trim62	ENSRNOG00000067048

Paralogs (80): MID2 (ENSG00000080561), TRIM9 (ENSG00000100505), MID1 (ENSG00000101871), MEFV (ENSG00000103313), TRIM35 (ENSG00000104228), TRIM14 (ENSG00000106785), TRIM37 (ENSG00000108395), TRIM2 (ENSG00000109654), TRIM3 (ENSG00000110171), TRIM38 (ENSG00000112343), 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), TRIM55 (ENSG00000147573), TRIM48 (ENSG00000150244), TRIM36 (ENSG00000152503), TRIM11 (ENSG00000154370), TRIM74 (ENSG00000155428), TRIM42 (ENSG00000155890), TRIM63 (ENSG00000158022)

Protein

Protein identifiers

E3 ubiquitin-protein ligase TRIM62 — Q9BVG3 (reviewed: Q9BVG3)

Alternative names: Tripartite motif-containing protein 62

All UniProt accessions (1): Q9BVG3

UniProt curated annotations — full annotation on UniProt →

Function. E3 ubiquitin ligase that plays a role in antifungal immunity by mediating ‘Lys-27’-linked ubiquitination of CARD9 downstream of C-type lectin receptors; leading to CARD9 activation, followed by activation of NF-kappa-B and MAP kinase p38 pathways. E3 ubiquitin ligase activity is dependent on E2 ubiquitin-conjugating enzyme UBE2D2.

Subunit / interactions. Interacts with the ubiquitin-conjugating enzyme, UBE2D2.

Subcellular location. Cytoplasm.

Post-translational modifications. Polyubiquitinated, autoubiquitinated in the presence of UBE2D2.

Domain organisation. The RING finger is required for ubiquitin ligase activity.

Pathway. Protein modification; protein ubiquitination.

Similarity. Belongs to the TRIM/RBCC family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9BVG3-1	1	yes
Q9BVG3-2	2

RefSeq proteins (2): NP_001317412, NP_060677* (*=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
IPR035830	PRY/SPRY_TRIM62	Domain
IPR043136	B30.2/SPRY_sf	Homologous_superfamily
IPR050143	TRIM/RBCC	Family

Pfam: PF00622, PF00643, PF13765, PF15227

Enzyme classification (BRENDA):

• EC 2.3.2.27 — RING-type E3 ubiquitin transferase (BRENDA: 28 organisms, 138 substrates, 10 inhibitors, 1 Km, 1 kcat entries)

Substrate kinetics (BRENDA)

1 substrates with measured Km, best-characterized 1. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
[UBE2W]-S-UBIQUITINYL-L-CYSTEINE	0.3014	1

UniProt features (14 total): binding site 4, splice variant 2, sequence conflict 2, zinc finger region 2, chain 1, domain 1, mutagenesis site 1, coiled-coil region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BVG3-F1	89.14	0.64

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): 93; 96; 114; 120

Mutagenesis-validated functional residues (1):

Position	Phenotype
11–14	abolished e3 ubiquitin ligase activity.

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-877300	Interferon gamma signaling

MSigDB gene sets: 127 (showing top): GSE45365_NK_CELL_VS_CD11B_DC_UP, MYOGENIN_Q6, REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, GOBP_NEGATIVE_REGULATION_OF_VIRAL_PROCESS, GOBP_CANONICAL_NF_KAPPAB_SIGNAL_TRANSDUCTION, AP4_Q6, GOBP_NEGATIVE_REGULATION_OF_EPITHELIAL_TO_MESENCHYMAL_TRANSITION, CAGCTG_AP4_Q5, GOBP_POSITIVE_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS, GOBP_REGULATION_OF_IMMUNE_RESPONSE, GOBP_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, GOBP_MESENCHYMAL_CELL_DIFFERENTIATION, GOBP_REGULATION_OF_BIOLOGICAL_PROCESS_INVOLVED_IN_SYMBIOTIC_INTERACTION, GOBP_REGULATION_OF_RESPONSE_TO_STRESS

GO Biological Process (11): negative regulation of epithelial to mesenchymal transition (GO:0010719), viral release from host cell (GO:0019076), negative regulation of viral transcription (GO:0032897), positive regulation of canonical NF-kappaB signal transduction (GO:0043123), protein K27-linked ubiquitination (GO:0044314), innate immune response (GO:0045087), regulation of viral entry into host cell (GO:0046596), positive regulation of antifungal innate immune response (GO:1905036), immune system process (GO:0002376), protein ubiquitination (GO:0016567), positive regulation of DNA-templated transcription (GO:0045893)

GO Molecular Function (8): transcription coactivator activity (GO:0003713), ubiquitin-protein transferase activity (GO:0004842), 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 (2): cytoplasm (GO:0005737), cytosol (GO:0005829)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Interferon Signaling	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
epithelial to mesenchymal transition	1
regulation of epithelial to mesenchymal transition	1
negative regulation of cell differentiation	1
negative regulation of multicellular organismal process	1
viral process	1
viral life cycle	1
exit from host cell	1
viral transcription	1
regulation of viral transcription	1
negative regulation of viral process	1
canonical NF-kappaB signal transduction	1
regulation of canonical NF-kappaB signal transduction	1
positive regulation of intracellular signal transduction	1
protein polyubiquitination	1
immune response	1
defense response to symbiont	1
symbiont entry into host cell	1
modulation by symbiont of entry into host	1
regulation of viral life cycle	1
positive regulation of innate immune response	1
antifungal innate immune response	1
regulation of antifungal innate immune response	1
biological_process	1
protein modification by small protein conjugation	1
DNA-templated transcription	1
regulation of DNA-templated transcription	1
positive regulation of RNA biosynthetic process	1
transcription coregulator activity	1
positive regulation of DNA-templated transcription	1
ubiquitin-like protein transferase activity	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
intracellular anatomical structure	1
cytoplasm	1

Protein interactions and networks

STRING

808 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TRIM62	TRAT1	Q6PIZ9	597
TRIM62	CARD9	Q9H257	590
TRIM62	TRIM66	O15016	540
TRIM62	TRIM32	Q13049	523
TRIM62	BBOX1	O75936	469
TRIM62	SACK1E	Q2M2I3	467
TRIM62	LCN9	Q8WX39	456
TRIM62	TTLL11	Q8NHH1	451
TRIM62	ZSCAN20	P17040	449
TRIM62	TRIM9	Q9C026	441
TRIM62	Q5T8A5	Q5T8A5	438
TRIM62	TRIM44	Q96DX7	427
TRIM62	ZNF362	Q5T0B9	426
TRIM62	TRIM37	O94972	421
TRIM62	TRIM23	P36406	415

IntAct

75 interactions, top by confidence:

A	B	Type	Score
NUP88	NUP214	psi-mi:“MI:0914”(association)	0.740
ETV6	LRP5	psi-mi:“MI:0914”(association)	0.640
TRIM62	TRIM62	psi-mi:“MI:0915”(physical association)	0.630
PPP1R18	TRIM62	psi-mi:“MI:0915”(physical association)	0.560
UBE2L6	TRIM62	psi-mi:“MI:0915”(physical association)	0.560
TRIM62	UBE2D4	psi-mi:“MI:0915”(physical association)	0.560
UBE2E3	TRIM62	psi-mi:“MI:0915”(physical association)	0.560
TRIM62	FAIM	psi-mi:“MI:0915”(physical association)	0.560
UTP25	TRIM62	psi-mi:“MI:0915”(physical association)	0.560
GLRX	TRIM62	psi-mi:“MI:0915”(physical association)	0.560
UBE2D3	TRIM62	psi-mi:“MI:0915”(physical association)	0.560
TRIM62	EXOSC5	psi-mi:“MI:0915”(physical association)	0.560
UBXN7	TRIM62	psi-mi:“MI:0915”(physical association)	0.560
UBE2D1	TRIM62	psi-mi:“MI:0915”(physical association)	0.560
SP7	TRIM62	psi-mi:“MI:0915”(physical association)	0.560
EPN2	TRIM62	psi-mi:“MI:0915”(physical association)	0.560
TRIM62	TBC1D7	psi-mi:“MI:0915”(physical association)	0.560
EAF1	TRIM62	psi-mi:“MI:0915”(physical association)	0.560
SFN	YWHAQ	psi-mi:“MI:0914”(association)	0.530
TRIM62		psi-mi:“MI:0915”(physical association)	0.370
TRIM62	SMAD2	psi-mi:“MI:0915”(physical association)	0.370
TRIM62	SKIL	psi-mi:“MI:0915”(physical association)	0.370
NRGN	EFCAB7	psi-mi:“MI:0914”(association)	0.350
NUP88	NUP214	psi-mi:“MI:0914”(association)	0.350
YJU2	PLRG1	psi-mi:“MI:0914”(association)	0.350
SNAP29	RNF40	psi-mi:“MI:0914”(association)	0.350
SFN	YWHAQ	psi-mi:“MI:0914”(association)	0.350

BioGRID (67): TRIM62 (Affinity Capture-MS), TRIM62 (Affinity Capture-MS), TRIM62 (Affinity Capture-MS), TRIM62 (Proximity Label-MS), TRIM62 (Affinity Capture-MS), TRIM62 (Reconstituted Complex), TRIM62 (FRET), TRIM62 (Affinity Capture-Western), TRIM62 (Co-localization), CARD9 (Biochemical Activity), UBE2D2 (Reconstituted Complex), TRIM62 (Affinity Capture-MS), TRIM62 (Affinity Capture-MS), TRIM62 (Affinity Capture-MS), TRIM62 (Affinity Capture-MS)

ESM2 similar proteins: A0A0G2JXN2, A2AWP8, O88842, O95267, P29590, P52734, P98174, Q1LY10, Q29RM4, Q2TBA3, Q3TAA7, Q3U0J8, Q3UTZ3, Q496Y0, Q4VX76, Q568M3, Q58D15, Q5BIM1, Q5JSP0, Q5R5M3, Q5R5T1, Q5REJ9, Q5W0U4, Q68FF6, Q69Z89, Q69ZK0, Q6PFY8, Q7TNM2, Q7Z4K8, Q7Z5H3, Q7Z6J4, Q80V85, Q8BY35, Q8BZ52, Q8C190, Q8N1F8, Q8TCU6, Q8WVR3, Q96JH8, Q99N48

Diamond homologs: A0JN74, A6NCK2, A6NDI0, A6NGJ6, A6NI03, A6NK02, A6NLI5, B1H278, C9J1S8, K7N6K2, O00635, O15553, O19085, O77666, P0CI25, P0CI26, P14373, P15533, P18892, P19474, Q02084, Q0PF16, Q12899, Q13410, Q1ACD5, Q1ACD6, Q1ACD7, Q1ACD8, Q1XHU0, Q2T9Z0, Q2YEM8, Q2YEM9, Q2YEN0, Q2YEN2, Q3UWZ0, Q3ZEE5, Q495X7, Q587N6, Q587N7, Q58DK8

SIGNOR signaling

4 interactions.

A	Effect	B	Mechanism
Ub:E2	“up-regulates activity”	TRIM62	ubiquitination
TRIM62	“down-regulates quantity by destabilization”	TRIM62	polyubiquitination
TRIM62	“up-regulates activity”	CARD9	polyubiquitination
TRIM62	“up-regulates activity”	CARD9	ubiquitination

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 37 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
ubiquitin-dependent protein catabolic process	5	10.9×	8e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	14
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

685 predictions. Top by Δscore:

Variant	Effect	Δscore
1:33147726:CA:C	acceptor_gain	1.0000
1:33147726:CACTG:C	acceptor_loss	1.0000
1:33147728:C:CC	acceptor_gain	1.0000
1:33147728:CT:C	acceptor_loss	1.0000
1:33158247:CCTTA:C	donor_loss	1.0000
1:33158248:CTTAC:C	donor_loss	1.0000
1:33158250:TA:T	donor_loss	1.0000
1:33158251:A:AC	donor_gain	1.0000
1:33158252:C:CC	donor_gain	1.0000
1:33158252:C:CG	donor_loss	1.0000
1:33158369:C:CC	acceptor_gain	1.0000
1:33159683:CTTA:C	donor_loss	1.0000
1:33159684:TTA:T	donor_loss	1.0000
1:33159685:TAC:T	donor_loss	1.0000
1:33159686:A:AC	donor_gain	1.0000
1:33159686:AC:A	donor_gain	1.0000
1:33159686:ACCG:A	donor_gain	1.0000
1:33159686:ACCGC:A	donor_loss	1.0000
1:33159687:C:CC	donor_gain	1.0000
1:33159687:CC:C	donor_gain	1.0000
1:33159687:CCG:C	donor_gain	1.0000
1:33159687:CCGC:C	donor_gain	1.0000
1:33159687:CCGCT:C	donor_gain	1.0000
1:33159943:GA:G	acceptor_gain	1.0000
1:33159945:C:CC	acceptor_gain	1.0000
1:33165468:CA:C	donor_loss	1.0000
1:33181024:C:CT	donor_loss	1.0000
1:33147723:TGGCA:T	acceptor_gain	0.9900
1:33147724:GGCA:G	acceptor_gain	0.9900
1:33147725:GCA:G	acceptor_gain	0.9900

AlphaMissense

3108 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:33181402:A:G	C11R	1.000
1:33147508:C:T	G366E	0.999
1:33147509:C:A	G366W	0.999
1:33147518:A:G	W363R	0.999
1:33147518:A:T	W363R	0.999
1:33147603:G:C	F334L	0.999
1:33147603:G:T	F334L	0.999
1:33147605:A:G	F334L	0.999
1:33147682:A:G	L308P	0.999
1:33181285:A:G	C50R	0.999
1:33181342:A:G	C31R	0.999
1:33181343:G:C	F30L	0.999
1:33181343:G:T	F30L	0.999
1:33181345:A:G	F30L	0.999
1:33181400:G:C	C11W	0.999
1:33147319:A:G	F429S	0.998
1:33147355:C:T	G417D	0.998
1:33147409:G:T	A399D	0.998
1:33147441:G:C	C388W	0.998
1:33147509:C:G	G366R	0.998
1:33147509:C:T	G366R	0.998
1:33147548:A:G	W353R	0.998
1:33147548:A:T	W353R	0.998
1:33181102:A:G	C111R	0.998
1:33181124:G:C	C103W	0.998
1:33181126:A:G	C103R	0.998
1:33181276:A:G	C53R	0.998
1:33181332:C:G	C34S	0.998
1:33181333:A:G	C34R	0.998
1:33181333:A:T	C34S	0.998

dbSNP variants (sampled 300 via entrez): RS1000048917 (1:33148566 T>C,G), RS1000082373 (1:33162597 C>G,T), RS1000114862 (1:33162839 G>A), RS1000143709 (1:33147927 A>G), RS1000197274 (1:33151423 A>T), RS1000381813 (1:33158736 G>T), RS1000603152 (1:33167088 C>T), RS1000671492 (1:33180169 A>G), RS1000712580 (1:33151176 G>A,T), RS1000731743 (1:33173263 C>T), RS1000850562 (1:33161979 A>G), RS1000871744 (1:33155419 C>T), RS1000902292 (1:33168775 G>A), RS1001016489 (1:33168537 C>T), RS1001087349 (1:33175001 G>A)

Disease associations

OMIM: gene MIM:616755 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST003876_2	Gut microbiota (beta diversity)	5.000000e-08

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0007874	gut microbiome measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, increases expression	3
Benzo(a)pyrene	affects methylation, increases methylation	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
triphenyl phosphate	affects expression	1
2,5,2’,5’-tetrachlorobiphenyl	increases expression	1
trichostatin A	affects expression	1
benzo(e)pyrene	increases methylation	1
aflatoxin B2	increases methylation	1
nickel sulfate	increases expression	1
hydroquinone	increases expression	1
diallyl trisulfide	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
abrine	decreases expression	1
dorsomorphin	affects cotreatment, increases expression	1
(+)-JQ1 compound	increases expression	1
Sorafenib	affects response to substance	1
Resveratrol	affects cotreatment, decreases expression	1
Sunitinib	increases expression	1
Fulvestrant	decreases methylation	1
Leflunomide	decreases expression	1
Microplastics	increases abundance, increases expression	1
Acetaminophen	increases expression	1
Doxorubicin	decreases expression	1
Drugs, Chinese Herbal	increases expression	1
Methapyrilene	increases methylation	1
Naphthoquinones	increases expression	1
Plant Extracts	decreases expression, affects cotreatment	1
Polystyrenes	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_TU44	HAP1 TRIM62 (-) 1	Cancer cell line	Male
CVCL_TU45	HAP1 TRIM62 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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