TRIM69

Summary

TRIM69 (tripartite motif containing 69, HGNC:17857) is a protein-coding gene on chromosome 15q21.1, encoding E3 ubiquitin-protein ligase TRIM69 (Q86WT6). E3 ubiquitin ligase that plays an important role in antiviral immunity by restricting different viral infections including dengue virus or vesicular stomatitis indiana virus.

This gene encodes a member of the RING-B-box-coiled-coil (RBCC) family and encodes a protein with an N-terminal RING finger motif, a PRY domain and a C-terminal SPRY domain. The mouse ortholog of this gene is specifically expressed in germ cells at the round spermatid stages during spermatogenesis and, when overexpressed, induces apoptosis. Alternatively spliced transcript variants encoding distinct isoforms have been described.

Source: NCBI Gene 140691 — RefSeq curated summary.

At a glance

• Gene–disease (curated): hereditary predisposition to infections (Limited, GenCC)
• GWAS associations: 1
• Clinical variants (ClinVar): 94 total
• MANE Select transcript: NM_182985

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:17857
Approved symbol	TRIM69
Name	tripartite motif containing 69
Location	15q21.1
Locus type	gene with protein product
Status	Approved
Aliases	Trif, TRIMLESS
Ensembl gene	ENSG00000185880
Ensembl biotype	protein_coding
OMIM	616017
Entrez	140691

Gene structure

Transcript identifiers

Ensembl transcripts: 17 — 9 protein_coding, 4 protein_coding_CDS_not_defined, 3 nonsense_mediated_decay, 1 retained_intron

ENST00000329464, ENST00000338264, ENST00000558173, ENST00000558329, ENST00000559315, ENST00000559390, ENST00000560141, ENST00000560442, ENST00000560554, ENST00000561043, ENST00000561170, ENST00000561237, ENST00000714085, ENST00000714088, ENST00000714089, ENST00000870291, ENST00000971067

RefSeq mRNA: 5 — MANE Select: NM_182985 NM_001301144, NM_001301145, NM_001301146, NM_080745, NM_182985

CCDS: CCDS10114, CCDS32220, CCDS73719, CCDS76745, CCDS76746

Canonical transcript exons

ENST00000329464 — 7 exons

Exon	Start	End
ENSE00001302964	44759748	44759872
ENSE00001324924	44759640	44759662
ENSE00001391653	44767231	44767827
ENSE00003628506	44756368	44756463
ENSE00003892906	44758621	44758854
ENSE00003893382	44754900	44755376
ENSE00004022737	44736528	44736710

Expression profiles

Bgee: expression breadth ubiquitous, 137 present calls, max score 93.12.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 20.7419 / max 300.9826, expressed in 1768 samples.

FANTOM5 promoters (14 alternative TSS)

Promoter ID	TPM avg	Samples expressed
146402	17.4914	1760
146403	1.5613	713
146400	0.4169	130
146405	0.3629	200
146404	0.2948	132
146414	0.1919	45
146399	0.1127	44
146410	0.1080	45
146412	0.0688	25
146408	0.0503	24

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
granulocyte	CL:0000094	93.12	gold quality
colonic epithelium	UBERON:0000397	92.90	gold quality
thymus	UBERON:0002370	92.35	gold quality
prefrontal cortex	UBERON:0000451	91.98	gold quality
hindlimb stylopod muscle	UBERON:0004252	91.17	gold quality
left testis	UBERON:0004533	91.12	gold quality
skeletal muscle tissue	UBERON:0001134	91.03	gold quality
putamen	UBERON:0001874	90.95	gold quality
heart left ventricle	UBERON:0002084	90.78	gold quality
frontal cortex	UBERON:0001870	90.73	gold quality
caudate nucleus	UBERON:0001873	90.53	gold quality
primary visual cortex	UBERON:0002436	90.50	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	90.49	gold quality
nucleus accumbens	UBERON:0001882	90.46	gold quality
substantia nigra	UBERON:0002038	90.43	gold quality
superior frontal gyrus	UBERON:0002661	90.42	gold quality
anterior cingulate cortex	UBERON:0009835	90.39	gold quality
cerebral cortex	UBERON:0000956	90.36	gold quality
right testis	UBERON:0004534	90.19	gold quality
bone marrow cell	CL:0002092	90.04	gold quality
right atrium auricular region	UBERON:0006631	89.95	gold quality
muscle tissue	UBERON:0002385	89.93	gold quality
testis	UBERON:0000473	89.92	gold quality
heart	UBERON:0000948	89.87	gold quality
spinal cord	UBERON:0002240	89.86	gold quality
hypothalamus	UBERON:0001898	89.84	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	89.83	gold quality
cortical plate	UBERON:0005343	89.75	gold quality
Brodmann (1909) area 9	UBERON:0013540	89.69	gold quality
amygdala	UBERON:0001876	89.63	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.03
E-MTAB-7606	no	75.83

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 10)

• Gene and protein analysis of the mouse counterpart. (PMID:11578878)
• hTRIM69 is a novel E3 ubiquitin ligase identified from human testis and may function to ubiquitinate its particular substrates during spermatogenesis. (PMID:23131556)
• TRIM69 restricts dengue virus replication by specifically ubiquitinating viral nonstructural protein NS3. (PMID:30142214)
• our results suggested that TRIM69 and p53 are closely involved in cataract formation. TRIM69 inhibited UVB-induced cell apoptosis and ROS production in HLECs by inducing p53 ubiquitination. (PMID:30844644)
• we show that TRIM69 is an antiviral defense that can potently and specifically block VSIV infection. (PMID:31375575)
• Mapping of molecular interactions between human E3 ligase TRIM69 and Dengue virus NS3 protease using hydrogen-deuterium exchange mass spectrometry. (PMID:35397701)
• Trim69 is a microtubule regulator that acts as a pantropic viral inhibitor. (PMID:36251989)
• HDLBP-stabilized lncFAL inhibits ferroptosis vulnerability by diminishing Trim69-dependent FSP1 degradation in hepatocellular carcinoma. (PMID:36423520)
• The TRIM69-MST2 signaling axis regulates centrosome dynamics and chromosome segregation. (PMID:37739411)
• TRIM69 suppressed the anoikis resistance and metastasis of gastric cancer through ubiquitin-proteasome-mediated degradation of PRKCD. (PMID:37864033)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Trim69	ENSMUSG00000033368
rattus_norvegicus	Trim69	ENSRNOG00000017157

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), TRIM55 (ENSG00000147573), TRIM48 (ENSG00000150244), TRIM36 (ENSG00000152503), TRIM11 (ENSG00000154370), TRIM74 (ENSG00000155428), TRIM42 (ENSG00000155890)

Protein

Protein identifiers

E3 ubiquitin-protein ligase TRIM69 — Q86WT6 (reviewed: Q86WT6)

Alternative names: RFP-like domain-containing protein trimless, RING finger protein 36, RING-type E3 ubiquitin transferase TRIM69, Tripartite motif-containing protein 69

All UniProt accessions (6): A0AAQ5BHD2, A0AAQ5BHH2, A0AAQ5BHH4, Q86WT6, H0YKB8, H0YL66

UniProt curated annotations — full annotation on UniProt →

Function. E3 ubiquitin ligase that plays an important role in antiviral immunity by restricting different viral infections including dengue virus or vesicular stomatitis indiana virus. Ubiquitinates viral proteins such as dengue virus NS3 thereby limiting infection. In addition, acts as a key mediator of type I interferon induced microtubule stabilization by directly associating to microtubules independently of its E3 ligase activity. Also plays a role in cataract formation together with TP53. Mechanistically, inhibits UVB-induced cell apoptosis and reactive oxygen species (ROS) production by inducing TP53 ubiquitination. Regulates centrosome dynamics and mitotic progression by ubiquitinating STK3/MST2; leading to its redistribution to the perinuclear cytoskeleton and subsequent phosphorylation by PLK1.

Subunit / interactions. Homo-multimer; required for antiviral activity. Interacts with PML.

Subcellular location. Cytoplasm. Nucleus. Nucleus speckle. Cytoskeleton. Microtubule organizing center. Centrosome.

Post-translational modifications. Phosphorylated. Phosphorylation is necessary for nuclear localization.

Domain organisation. The RING-type zinc finger domain is responsible for E3 ubiquitin ligase activity and for nuclear localization and aggregation.

Induction. By interferon-beta. (Microbial infection) Upon dengue virus infection.

Pathway. Protein modification; protein ubiquitination.

Similarity. Belongs to the TRIM/RBCC family.

Isoforms (4)

UniProt ID	Names	Canonical?
Q86WT6-1	1	yes
Q86WT6-2	2
Q86WT6-3	3, Trimless alpha
Q86WT6-4	4, Trimless beta

RefSeq proteins (5): NP_001288073, NP_001288074, NP_001288075, NP_542783, NP_892030* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
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
IPR043136	B30.2/SPRY_sf	Homologous_superfamily
IPR050143	TRIM/RBCC	Family

Pfam: PF00622, 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 (36 total): helix 10, sequence variant 6, mutagenesis site 5, strand 3, splice variant 3, turn 2, chain 1, domain 1, zinc finger region 1, sequence conflict 1, region of interest 1, coiled-coil region 1, modified residue 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
6YXE	X-RAY DIFFRACTION	2.1
4NQJ	X-RAY DIFFRACTION	2.15

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q86WT6-F1	88.61	0.71

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 (1): 341

Mutagenesis-validated functional residues (5):

Position	Phenotype
61	loss of e3 ubiquitin-protein ligase activity; when associated with a-64.
64	loss of e3 ubiquitin-protein ligase activity; when associated with a-61.
95	loss of antiviral activity; able to form dimers but not higher-order multimers; when associated with a-96.
96	loss of antiviral activity; able to form dimers but not higher-order multimers; when associated with a-91.
99	loss of antiviral activity; able to form dimers but not higher-order multimers.

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

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

MSigDB gene sets: 119 (showing top): GSE45365_HEALTHY_VS_MCMV_INFECTION_CD8_TCELL_IFNAR_KO_UP, GOBP_PROTEIN_LOCALIZATION_TO_CYTOSKELETON, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION, REACTOME_ANTIGEN_PROCESSING_UBIQUITINATION_PROTEASOME_DEGRADATION, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, GOCC_CENTROSOME, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, GOBP_PROTEIN_LOCALIZATION_TO_ORGANELLE, GOCC_NUCLEAR_SPECK, GOCC_NUCLEAR_BODY, GOCC_RIBONUCLEOPROTEIN_GRANULE, RNCTGNYNRNCTGNY_UNKNOWN, GARY_CD5_TARGETS_UP

GO Biological Process (6): apoptotic process (GO:0006915), protein ubiquitination (GO:0016567), innate immune response (GO:0045087), protein localization to centrosome (GO:0071539), centrosome cycle (GO:0007098), centrosome separation (GO:0051299)

GO Molecular Function (7): 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 (6): nucleus (GO:0005634), cytoplasm (GO:0005737), centrosome (GO:0005813), cytosol (GO:0005829), nuclear speck (GO:0016607), cytoskeleton (GO:0005856)

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
cell cycle process	2
cellular anatomical structure	2
programmed cell death	1
apoptotic signaling pathway	1
execution phase of apoptosis	1
protein modification by small protein conjugation	1
immune response	1
defense response to symbiont	1
protein localization to microtubule organizing center	1
microtubule organizing center organization	1
centrosome cycle	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 membrane-bounded organelle	1
intracellular anatomical structure	1
centriole	1
microtubule organizing center	1
cytoplasm	1
nuclear ribonucleoprotein granule	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

794 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TRIM69	TRAT1	Q6PIZ9	581
TRIM69	TMEM225	Q6GV28	559
TRIM69	TRIM56	Q9BRZ2	521
TRIM69	BBOX1	O75936	503
TRIM69	DHRS12	A0PJE2	497
TRIM69	TRIM42	Q8IWZ5	476
TRIM69	TRIM32	Q13049	473
TRIM69	TMCO5A	Q8N6Q1	462
TRIM69	TRIM23	P36406	438
TRIM69	SHFL	Q9NUL5	419
TRIM69	TRIML2	Q8N7C3	413
TRIM69	SCAND3	Q6R2W3	409
TRIM69	TRIM47	Q96LD4	407
TRIM69	TMLHE	Q9NVH6	399
TRIM69	GTF2F2	P13984	398

IntAct

71 interactions, top by confidence:

A	B	Type	Score
TRIM69	ATP5MC1	psi-mi:“MI:0915”(physical association)	0.670
ASNS	TRIM69	psi-mi:“MI:0915”(physical association)	0.670
ATP5MC1	TRIM69	psi-mi:“MI:0915”(physical association)	0.670
TRIM69	ASNS	psi-mi:“MI:0915”(physical association)	0.670
MAGEA4	TRIM69	psi-mi:“MI:0915”(physical association)	0.670
TRIM69	MAGEA4	psi-mi:“MI:0915”(physical association)	0.670
TRIM69	KRT17	psi-mi:“MI:0915”(physical association)	0.560
FKBP1B	TRIM69	psi-mi:“MI:0915”(physical association)	0.560
SF3A3	TRIM69	psi-mi:“MI:0915”(physical association)	0.560
SF1	TRIM69	psi-mi:“MI:0915”(physical association)	0.560
LARP1B	TRIM69	psi-mi:“MI:0915”(physical association)	0.560
TRIM69	PPP1R18	psi-mi:“MI:0915”(physical association)	0.560
ZNF483	TRIM69	psi-mi:“MI:0915”(physical association)	0.560
TRIM69	RECK	psi-mi:“MI:0915”(physical association)	0.560
TRIM69	IYD	psi-mi:“MI:0915”(physical association)	0.560
NEK8	TRIM69	psi-mi:“MI:0915”(physical association)	0.560
MAGEA4	TRIM69	psi-mi:“MI:0915”(physical association)	0.560
TRIM69	DVL1	psi-mi:“MI:0915”(physical association)	0.560
SYNE4	TRIM69	psi-mi:“MI:0915”(physical association)	0.560
TRIM69	TRIM44	psi-mi:“MI:0915”(physical association)	0.560
TRIM69	HAUS1	psi-mi:“MI:0915”(physical association)	0.560
FAM110A	TRIM69	psi-mi:“MI:0915”(physical association)	0.560
TRIM69	RSPH14	psi-mi:“MI:0915”(physical association)	0.560
KRT17	TRIM69	psi-mi:“MI:0915”(physical association)	0.560
TRIM69	FKBP1B	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (136): TRIM69 (Two-hybrid), TRIM69 (Two-hybrid), TRIM69 (Two-hybrid), TRIM69 (Two-hybrid), TRIM69 (Two-hybrid), TRIM69 (Two-hybrid), TRIM69 (Two-hybrid), TRIM69 (Two-hybrid), TRIM69 (Two-hybrid), TRIM69 (Two-hybrid), TRIM69 (Two-hybrid), TRIM69 (Two-hybrid), TRIM69 (Two-hybrid), TRIM69 (Two-hybrid), TRIM69 (Two-hybrid)

ESM2 similar proteins: A6NK02, A6NLU0, D4ABM4, F8VTS6, O00635, O19085, O77666, P14373, P15533, P62603, P86448, P86449, Q12899, Q2T9Z0, Q3UWZ0, Q495X7, Q58DK8, Q5BK82, Q5D7H7, Q5D7I6, Q5E9G4, Q5RBG2, Q5SZ99, Q5TM55, Q62158, Q62191, Q640S6, Q6AZZ1, Q6PGR9, Q7TPM3, Q7YR32, Q7YR33, Q7YR34, Q7YRV4, Q80X56, Q86WT6, Q8BVP1, Q8K243, Q8N7C3, Q8N9V2

Diamond homologs: A0A2P1BRP3, A0A2P1BRQ0, A0JN74, A0ZSK3, A0ZSK4, B1H278, O19085, O95361, P14373, P19474, Q02084, Q1XHU0, Q309B1, Q5R760, Q5R7W8, Q62158, Q62556, Q7KYR7, Q86WT6, Q8N7C3, Q8WVV5, Q91431, Q91453, Q96F44, Q98989, Q98993, Q99PP9, Q99PQ2, Q9C029, Q9HCM9, Q9JLN5, A0A0E4BZH1, A4QPC6, A6NGJ6, A6NI03, A6NK02, A6NLU0, A7TZE6, A7TZF0, A7TZF3

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
Ub:E2	“up-regulates activity”	TRIM69	ubiquitination

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	77
Likely benign	5
Benign	3

Top pathogenic / likely-pathogenic (0)

SpliceAI

1645 predictions. Top by Δscore:

Variant	Effect	Δscore
15:44756459:ACAAG:A	donor_loss	1.0000
15:44756460:CAAGG:C	donor_loss	1.0000
15:44756461:AAGGT:A	donor_loss	1.0000
15:44756462:AGGTG:A	donor_loss	1.0000
15:44756464:GTGA:G	donor_loss	1.0000
15:44756465:T:A	donor_loss	1.0000
15:44758855:G:GG	donor_gain	1.0000
15:44729322:GAC:G	donor_gain	0.9900
15:44730680:AG:A	donor_gain	0.9900
15:44731361:A:AG	acceptor_gain	0.9900
15:44731362:G:GA	acceptor_gain	0.9900
15:44731362:GTT:G	acceptor_gain	0.9900
15:44731362:GTTA:G	acceptor_gain	0.9900
15:44731362:GTTAA:G	acceptor_gain	0.9900
15:44731437:G:GT	donor_gain	0.9900
15:44736821:G:T	donor_gain	0.9900
15:44755308:G:GT	donor_gain	0.9900
15:44756362:TCCCA:T	acceptor_loss	0.9900
15:44756363:CCCAG:C	acceptor_loss	0.9900
15:44756366:A:AG	acceptor_gain	0.9900
15:44756366:A:T	acceptor_loss	0.9900
15:44756367:G:GA	acceptor_loss	0.9900
15:44756367:G:GG	acceptor_gain	0.9900
15:44756367:GGA:G	acceptor_gain	0.9900
15:44756443:G:GT	donor_gain	0.9900
15:44759634:TTCTA:T	acceptor_loss	0.9900
15:44759635:TCTAG:T	acceptor_loss	0.9900
15:44759636:CTA:C	acceptor_loss	0.9900
15:44759637:TAGG:T	acceptor_loss	0.9900
15:44759638:A:AG	acceptor_gain	0.9900

AlphaMissense

3336 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
15:44767437:T:A	W390R	0.998
15:44767437:T:C	W390R	0.998
15:44767447:G:A	G393E	0.997
15:44767407:T:A	W380R	0.995
15:44767407:T:C	W380R	0.995
15:44767446:G:A	G393R	0.995
15:44767446:G:C	G393R	0.995
15:44767609:T:C	L447P	0.995
15:44767276:T:C	L336P	0.994
15:44767350:T:C	F361L	0.994
15:44767352:T:A	F361L	0.994
15:44767352:T:G	F361L	0.994
15:44767447:G:T	G393V	0.993
15:44767439:G:C	W390C	0.990
15:44767439:G:T	W390C	0.990
15:44755014:T:C	C41R	0.989
15:44755293:T:C	C134R	0.989
15:44767632:T:C	S455P	0.989
15:44767635:T:C	F456L	0.989
15:44767636:T:C	F456S	0.989
15:44767637:C:A	F456L	0.989
15:44767637:C:G	F456L	0.989
15:44767671:T:C	F468L	0.989
15:44767673:C:A	F468L	0.989
15:44767673:C:G	F468L	0.989
15:44767303:T:A	V345D	0.988
15:44767409:G:C	W380C	0.988
15:44767409:G:T	W380C	0.988
15:44767267:A:G	H333R	0.987
15:44767369:T:A	V367E	0.987

dbSNP variants (sampled 300 via entrez): RS1000075100 (15:44740343 C>A,T), RS1000108374 (15:44747340 A>G), RS1000113109 (15:44753447 T>C), RS1000140840 (15:44759868 C>G), RS1000154457 (15:44764087 G>A), RS1000251263 (15:44753264 C>A,T), RS1000266072 (15:44746459 T>G), RS1000349641 (15:44741330 A>T), RS1000366880 (15:44736017 T>C), RS1000368943 (15:44765926 A>C,T), RS1000451531 (15:44752012 C>T), RS1000475887 (15:44758160 T>A,C), RS1000674072 (15:44745237 T>C), RS1000702465 (15:44734687 T>A), RS1000775511 (15:44735054 A>G)

Disease associations

OMIM: gene MIM:616017 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
hereditary predisposition to infections	Limited	Autosomal dominant

Mondo (1): (MONDO:0015979)

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST008745_7	Estimated glomerular filtration rate in non-diabetics	5.000000e-12

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases expression, decreases methylation, increases methylation	2
entinostat	increases expression, affects cotreatment	2
Panobinostat	affects cotreatment, increases expression	2
Air Pollutants	affects expression, affects methylation, increases abundance, decreases expression	2
Nickel	increases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Valproic Acid	affects cotreatment, increases expression	2
GSK-J4	decreases expression	1
chloroacetaldehyde	increases expression	1
methylmercuric chloride	increases expression	1
ethyl-p-hydroxybenzoate	increases expression	1
trichostatin A	increases expression	1
arsenite	affects binding, decreases reaction	1
sodium arsenite	decreases expression	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression	1
monomethylpropion	increases expression	1
avobenzone	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
dorsomorphin	affects cotreatment, increases expression	1
2,3,5-trichloro-6-phenyl-(1,4)benzoquinone	increases expression	1
Acetaminophen	decreases expression	1
Benzo(a)pyrene	decreases methylation, increases methylation	1
Doxorubicin	decreases expression	1
Estradiol	affects cotreatment, decreases expression	1
Lipopolysaccharides	increases expression, affects response to substance	1
Oxygen	increases expression	1
Smoke	decreases expression, increases abundance	1
Testosterone	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_TU53	HAP1 TRIM69 (-) 1	Cancer cell line	Male
CVCL_TU54	HAP1 TRIM69 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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