TRIM29

Summary

TRIM29 (tripartite motif containing 29, HGNC:17274) is a protein-coding gene on chromosome 11q23.3, encoding Tripartite motif-containing protein 29 (Q14134). Plays a crucial role in the regulation of macrophage activation in response to viral or bacterial infections within the respiratory tract.

The protein encoded by this gene belongs to the TRIM protein family. It has multiple zinc finger motifs and a leucine zipper motif. It has been proposed to form homo- or heterodimers which are involved in nucleic acid binding. Thus, it may act as a transcriptional regulatory factor involved in carcinogenesis and/or differentiation. It may also function in the suppression of radiosensitivity since it is associated with ataxia telangiectasia phenotype.

Source: NCBI Gene 23650 — RefSeq curated summary.

At a glance

• GWAS associations: 6
• Clinical variants (ClinVar): 99 total
• MANE Select transcript: NM_012101

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:17274
Approved symbol	TRIM29
Name	tripartite motif containing 29
Location	11q23.3
Locus type	gene with protein product
Status	Approved
Aliases	ATDC, FLJ36085
Ensembl gene	ENSG00000137699
Ensembl biotype	protein_coding
OMIM	610658
Entrez	23650

Gene structure

Transcript identifiers

Ensembl transcripts: 23 — 12 protein_coding, 5 protein_coding_CDS_not_defined, 4 retained_intron, 2 nonsense_mediated_decay

ENST00000341846, ENST00000475051, ENST00000524664, ENST00000524816, ENST00000524956, ENST00000525327, ENST00000525887, ENST00000526161, ENST00000526881, ENST00000528870, ENST00000529011, ENST00000529040, ENST00000529044, ENST00000529495, ENST00000530470, ENST00000530919, ENST00000531555, ENST00000532195, ENST00000532833, ENST00000533302, ENST00000627238, ENST00000854246, ENST00000854247

RefSeq mRNA: 2 — MANE Select: NM_012101 NM_001330382, NM_012101

CCDS: CCDS81637, CCDS8428

Canonical transcript exons

ENST00000341846 — 9 exons

Exon	Start	End
ENSE00001372895	120111286	120112476
ENSE00002190568	120137228	120138113
ENSE00003501594	120125691	120125889
ENSE00003546070	120120573	120120665
ENSE00003568386	120122954	120123055
ENSE00003575202	120115338	120115414
ENSE00003649128	120128400	120128495
ENSE00003687777	120118223	120118321
ENSE00003691636	120127336	120127569

Expression profiles

Bgee: expression breadth ubiquitous, 222 present calls, max score 99.77.

FANTOM5 (CAGE): breadth broad, TPM avg 20.9084 / max 1514.7203, expressed in 402 samples.

FANTOM5 promoters (21 alternative TSS)

Promoter ID	TPM avg	Samples expressed
122776	16.2544	310
122764	1.4560	148
122772	0.8497	172
122777	0.5227	165
122767	0.3369	90
122775	0.2586	91
206475	0.2060	72
122771	0.1855	71
122765	0.1667	43
206474	0.1035	71

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
lower esophagus mucosa	UBERON:0035834	99.77	gold quality
upper leg skin	UBERON:0004262	99.66	gold quality
gingiva	UBERON:0001828	99.63	gold quality
gingival epithelium	UBERON:0001949	99.63	gold quality
pharyngeal mucosa	UBERON:0000355	99.61	gold quality
upper arm skin	UBERON:0004263	99.61	gold quality
skin of abdomen	UBERON:0001416	99.57	gold quality
mammalian vulva	UBERON:0000997	99.55	gold quality
penis	UBERON:0000989	99.51	gold quality
oral cavity	UBERON:0000167	99.44	gold quality
nipple	UBERON:0002030	99.44	gold quality
zone of skin	UBERON:0000014	99.42	gold quality
tongue squamous epithelium	UBERON:0006919	99.41	gold quality
skin of leg	UBERON:0001511	99.39	gold quality
esophagus mucosa	UBERON:0002469	99.23	gold quality
skin of hip	UBERON:0001554	99.18	gold quality
nasal cavity epithelium	UBERON:0005384	99.17	gold quality
cervix epithelium	UBERON:0004801	99.13	gold quality
squamous epithelium	UBERON:0006914	99.02	gold quality
cervix squamous epithelium	UBERON:0006922	98.92	gold quality
body of tongue	UBERON:0011876	98.85	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	98.78	gold quality
esophagus squamous epithelium	UBERON:0006920	98.72	gold quality
palpebral conjunctiva	UBERON:0001812	98.65	gold quality
hair follicle	UBERON:0002073	98.60	gold quality
mouth mucosa	UBERON:0003729	98.33	gold quality
epithelium of esophagus	UBERON:0001976	98.31	gold quality
minor salivary gland	UBERON:0001830	98.14	gold quality
tongue	UBERON:0001723	98.09	gold quality
tonsil	UBERON:0002372	97.87	gold quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-MTAB-8142	yes	611.22
E-HCAD-1	yes	266.56
E-CURD-114	yes	54.46
E-MTAB-10596	no	793.90
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

46 targeting TRIM29, 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-185-3P	99.95	67.01	1743
HSA-MIR-124-3P	99.89	73.74	3043
HSA-MIR-506-3P	99.89	73.55	3057
HSA-MIR-3663-3P	99.84	70.39	798
HSA-MIR-6756-5P	99.82	67.97	2466
HSA-MIR-6745	99.74	65.33	1321
HSA-MIR-4306	99.72	70.50	3630
HSA-MIR-6766-5P	99.68	67.70	2325
HSA-MIR-4499	99.62	67.29	1470
HSA-MIR-1275	99.47	67.90	2749
HSA-MIR-6083	99.47	68.73	2393
HSA-MIR-363-5P	99.46	64.51	1015
HSA-MIR-940	99.37	66.14	2064
HSA-MIR-185-5P	99.35	68.60	2497
HSA-MIR-4644	99.35	69.12	2514
HSA-MIR-6808-5P	99.31	66.23	2150
HSA-MIR-6893-5P	99.31	66.25	2119
HSA-MIR-7109-5P	99.18	66.13	1057
HSA-MIR-6510-5P	99.14	66.59	1081
HSA-MIR-1257	98.97	68.02	1133
HSA-MIR-224-3P	98.91	68.42	1815
HSA-MIR-522-3P	98.91	68.56	1817
HSA-MIR-6871-5P	98.90	66.67	671
HSA-MIR-6829-5P	98.86	65.12	1480
HSA-MIR-2467-3P	98.65	67.18	1969
HSA-MIR-5011-3P	98.63	64.81	638
HSA-MIR-299-5P	98.56	71.14	1140
HSA-MIR-6784-3P	98.39	64.88	662

Literature-anchored findings (GeneRIF, showing 40)

• suppressed ATDC expression is associated with malignant phenotype. (PMID:16890201)
• TRIM29 is upregulated after radical prostatectomy for prostatic neoplasms. (PMID:17448597)
• ATDC was found to stabilize beta-catenin via ATDC-induced effects on the Disheveled-2 protein, a negative regulator of glycogen synthase kinase 3beta in the Wnt/beta-catenin signaling pathway. (PMID:19249679)
• the percentage of lung carcinoma patients remaining unclassifiable by TTF-1/TP63 was twice that of the five-antibody (TRIM29, CEACAM5, SLC7A5, MUC1, and CK5/6) test (PMID:19430419)
• ATDC increases cell proliferation via inhibition of p53 nuclear activities. (PMID:20368352)
• TRIM29 allows keratinocytes to enter a protective alternative differentiation process rather than die massively after stress. (PMID:20454669)
• Histone deacetylase 9 (HDAC9) regulates the functions of the ATDC (TRIM29) protein (PMID:20947501)
• Data show that overexpression of TRIM29 promoted degradation and changed localization of Tip60 and reduced acetylation of p53 at lysine 120 by Tip60, resulting in enhancement of cell growth and transforming activity. (PMID:21463657)
• results suggest that loss of TRIM29 expression in normal breast luminal cells can contribute to malignant transformation and lead to progression of ER+ breast cancer in premenopausal women. (PMID:22138580)
• The expressions of TrkB and TRIM29 are correlated with lymph node metastasis in gastric cancer. (PMID:22490895)
• The interaction between TRIM29 and beta-catenin may participate in the development of lung squamous cell carcinoma. (PMID:22721621)
• ATDC mRNA and protein expression were significantly higher in esophageal squamous cell carcinoma tissue than in matched noncancerous tissues. (PMID:23020249)
• the expression of cyclin D1, MCM7, TRIM29, and UBE2C was found to be significantly associated with progression to muscle-invasive bladder cancer. (PMID:23201130)
• Down-regulation of TRIM29 inhibited tumor cell proliferation in vitro. (PMID:24078150)
• Ataxia-telangiectasia group D-associated gene (ATDC) mediates resistance to ionizing radiation. (PMID:24469230)
• TRIM29 may be useful marker for distinguishing prostate cancers from benign tissues (PMID:24485335)
• TWIST1 inhibited TRIM29 promoter activity. (PMID:24950909)
• Down-regulation of ATDC inhibits the growth and proliferation of esophageal carcinoma cells. (PMID:25491629)
• These findings suggest that TRIM29 regulates the p63-mediated pathway and the behavior of cervical cancer cells. (PMID:26071105)
• TRIM29 functions as a scaffold protein to assemble DNA repair proteins into chromatin followed by efficient activation of DNA damage response. (PMID:26095369)
• Results suggest that TRIM29 functions as an oncogene in gastric cancer and is regulated by miR-185. (PMID:26191199)
• define a novel function for ATDC in the RNF8-mediated DNA damage response and implicate RNF8 binding as a key determinant of the radioprotective function of ATDC (PMID:26381412)
• Findings established a role for ATDC/TRIM29 as a robust pathogenic driver of bladder cancer development, identified downstream effector pathways, and implicated ATDC as a candidate biomarker and therapeutic target. (PMID:26471361)
• the current study demonstrated that TRIM29 upregulates cyclin and Bcl family proteins level to facilitate malignant cell growth and inhibit drug-induced apoptosis in bladder cancer, possibly through PKC-NF-kappaB signaling pathways. (PMID:26987391)
• Data show that TRIM29 promotes tumor progression by activating Wnt/beta-Catenin signaling. (PMID:27081037)
• This study establishes TRIM29 as a hypoxia-induced tumor suppressor gene and provides a novel molecular mechanism for ATM-dependent breast cancer suppression. (PMID:27535224)
• miR-761 acts as an oncogene in triple-negative breast cancer. This mode of action can, at least partially, be ascribed to the down-regulation of its target TRIM29. (PMID:28054302)
• Upregulation of TRIM29 is associated with thyroid cancer. (PMID:28098872)
• Ectopic expression of TRIM29 potentially contributes to metastasis and poor prognosis in patients with osteosarcoma. (PMID:28731167)
• Knockdown of tripartite motif-containing 29 protein (TRIM29) enhanced the production of type I interferon in human and mouse dendritic cells by up to fourfold in response to intracellular herpes simplex virus. (PMID:29038422)
• decreased expression of miR-122 and increased expression of TRIM29 was significantly associated with poor prognosis in patients with NPC. (PMID:29693120)
• TRIM29 has a role in regulating the distribution of keratins, as well as in the migration and invasion of squamous cell carcinoma (PMID:30389700)
• Results show that the depletion of tripartite motif-containing 29 protein (TRIM29) promoted liver cancer cell proliferation, clone formation, migration and invasion in vitro probably through the Wnt/beta-catenin signaling pathway. (PMID:30566565)
• High TRIM29 expression is associated with invasion in hepatocellular carcinoma. (PMID:30876939)
• Study demonstrated that extracellular free ISG15 played an important role in maintenance of cancer stem cell-like features of pancreatic ductal adenocarcinoma (PDAC) and revealed a novel mechanism by which TRIM29 modulates ISG15 stability via CAPN3-mediated processing, and subsequently extracellular ISG15 maintains the cancer stem cell-like features of PDAC via autocrine mode of action. (PMID:31501523)
• TRIM29 mediates lung squamous cell carcinoma cell metastasis by regulating autophagic degradation of E-cadherin. (PMID:32640423)
• Terminal keratinocyte differentiation in vitro is associated with a stable DNA methylome. (PMID:32681572)
• Long noncoding RNA TP73AS1 accelerates the progression and cisplatin resistance of nonsmall cell lung cancer by upregulating the expression of TRIM29 via competitively targeting microRNA34a5p. (PMID:32901838)
• TRIM29 inhibits miR-873-5P biogenesis via CYTOR to upregulate fibronectin 1 and promotes invasion of papillary thyroid cancer cells. (PMID:32994394)
• m6A-YTHDF1-mediated TRIM29 upregulation facilitates the stem cell-like phenotype of cisplatin-resistant ovarian cancer cells. (PMID:33011193)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Trim29	ENSMUSG00000032013
rattus_norvegicus	Trim29	ENSRNOG00000021771

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), 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

Tripartite motif-containing protein 29 — Q14134 (reviewed: Q14134)

Alternative names: Ataxia telangiectasia group D-associated protein

All UniProt accessions (11): Q14134, E9PI31, E9PIQ2, E9PJ94, E9PJD4, E9PLI4, E9PM74, E9PPX1, E9PRL4, H0YD78, H0YF27

UniProt curated annotations — full annotation on UniProt →

Function. Plays a crucial role in the regulation of macrophage activation in response to viral or bacterial infections within the respiratory tract. Mechanistically, TRIM29 interacts with IKBKG/NEMO in the lysosome where it induces its ‘Lys-48’ ubiquitination and subsequent degradation. In turn, the expression of type I interferons and the production of pro-inflammatory cytokines are inhibited. Additionally, induces the ‘Lys-48’ ubiquitination of STING1 in a similar way, leading to its degradation.

Subunit / interactions. Interacts with VIM and HINT1. Interacts with IKBKG/NEMO. Interacts with STING1.

Subcellular location. Cytoplasm. Lysosome.

Tissue specificity. Expressed in placenta, prostate and thymus.

Post-translational modifications. Constitutively phosphorylated by PKC on serine/threonine in A431 cells.

Isoforms (2)

UniProt ID	Names	Canonical?
Q14134-1	Alpha	yes
Q14134-2	Beta

RefSeq proteins (2): NP_001317311, NP_036233* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000315	Znf_B-box	Domain
IPR051051	E3_ubiq-ligase_TRIM/RNF	Family
IPR058030	TRIM8/14/16/25/29/45/65_CC	Domain

Pfam: PF00643, PF25600

UniProt features (26 total): modified residue 7, strand 4, binding site 4, turn 2, helix 2, chain 1, zinc finger region 1, splice variant 1, sequence variant 1, sequence conflict 1, region of interest 1, coiled-coil region 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
2CSV	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q14134-F1	62.17	0.25

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): 225; 228; 247; 252

Post-translational modifications (7): 58, 104, 106, 476, 489, 21, 28

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-877300	Interferon gamma signaling

MSigDB gene sets: 160 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_MCMV_INFECTION_DN, RNGTGGGC_UNKNOWN, REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, JAEGER_METASTASIS_DN, ENK_UV_RESPONSE_KERATINOCYTE_UP, SARRIO_EPITHELIAL_MESENCHYMAL_TRANSITION_DN, CHANDRAN_METASTASIS_DN, HATADA_METHYLATED_IN_LUNG_CANCER_DN, GOBP_NEGATIVE_REGULATION_OF_PROTEIN_LOCALIZATION, GOBP_CELL_CELL_ADHESION, RICKMAN_METASTASIS_DN, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, CHARAFE_BREAST_CANCER_BASAL_VS_MESENCHYMAL_UP, HUPER_BREAST_BASAL_VS_LUMINAL_UP, MODULE_213

GO Biological Process (5): negative regulation of transcription by RNA polymerase II (GO:0000122), innate immune response (GO:0045087), negative regulation of protein localization to nucleus (GO:1900181), immune system process (GO:0002376), cell-cell adhesion (GO:0098609)

GO Molecular Function (6): p53 binding (GO:0002039), zinc ion binding (GO:0008270), identical protein binding (GO:0042802), cadherin binding involved in cell-cell adhesion (GO:0098641), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (3): lysosome (GO:0005764), adherens junction (GO:0005912), cytoplasm (GO:0005737)

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
protein binding	2
regulation of transcription by RNA polymerase II	1
transcription by RNA polymerase II	1
negative regulation of DNA-templated transcription	1
immune response	1
defense response to symbiont	1
protein localization to nucleus	1
regulation of protein localization to nucleus	1
negative regulation of protein localization	1
biological_process	1
cell adhesion	1
transition metal ion binding	1
cadherin binding	1
cell-cell adhesion	1
cell-cell adhesion mediator activity	1
binding	1
cation binding	1
lytic vacuole	1
cell-cell junction	1
intracellular anatomical structure	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1372 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TRIM29	TRAT1	Q6PIZ9	875
TRIM29	HINT1	P49773	826
TRIM29	BBOX1	O75936	797
TRIM29	DES	P17661	711
TRIM29	DVL2	O14641	706
TRIM29	KRT5	P13647	606
TRIM29	TRIM32	Q13049	580
TRIM29	TP53	P04637	571
TRIM29	TRIM56	Q9BRZ2	566
TRIM29	KAT5	Q92993	550
TRIM29	THY1	P04216	540
TRIM29	TRIM31	Q9BZY9	527
TRIM29	TRIM40	Q6P9F5	524
TRIM29	TRIM59	Q8IWR1	521
TRIM29	TRIM24	O15164	518

IntAct

202 interactions, top by confidence:

A	B	Type	Score
OAZ3	AZIN1	psi-mi:“MI:0914”(association)	0.800
MAD1L1	TRIM29	psi-mi:“MI:0915”(physical association)	0.780
TRIM29	MAD1L1	psi-mi:“MI:0915”(physical association)	0.780
GOLGA2	TRIM29	psi-mi:“MI:0915”(physical association)	0.740
TRIM29	CEP70	psi-mi:“MI:0915”(physical association)	0.740
TRIM29	GOLGA2	psi-mi:“MI:0915”(physical association)	0.740
CEP70	TRIM29	psi-mi:“MI:0915”(physical association)	0.740
TRIM29	TRIM29	psi-mi:“MI:0915”(physical association)	0.740
KIF3A	KIF3C	psi-mi:“MI:0914”(association)	0.730
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
TRIM23	TRIM29	psi-mi:“MI:0915”(physical association)	0.670
TRIM29	LZTS2	psi-mi:“MI:0915”(physical association)	0.670
TRIM29	TRIM23	psi-mi:“MI:0915”(physical association)	0.670
LZTS2	TRIM29	psi-mi:“MI:0915”(physical association)	0.670

BioGRID (320): TRIM29 (Two-hybrid), TRIM29 (Two-hybrid), TRIM29 (Two-hybrid), TRIM29 (Two-hybrid), CARD9 (Two-hybrid), CEP70 (Two-hybrid), LZTS2 (Two-hybrid), TRIM29 (Affinity Capture-RNA), TRIM29 (Affinity Capture-RNA), TRIM29 (Affinity Capture-MS), TRIM29 (Affinity Capture-MS), CRACR2A (Two-hybrid), TRIM29 (Affinity Capture-MS), TRIM29 (Affinity Capture-MS), TRIM29 (Two-hybrid)

ESM2 similar proteins: A2AHC3, A5WUN7, A6H5Y1, A6QP06, D4AEC2, E9Q555, F1M5M3, F1MJR8, G5E5X0, P59667, Q05858, Q08AD1, Q14134, Q1LVK9, Q2PFD7, Q2T9I9, Q3KQW7, Q3ULZ2, Q5RAK6, Q5RHB5, Q5RJ80, Q5T5Y3, Q5VZ18, Q5XK72, Q640U0, Q66HP6, Q6A037, Q6IMN6, Q6WCQ1, Q6ZPY7, Q75N33, Q75NY9, Q76I79, Q7LBC6, Q7M6U3, Q86US8, Q8K004, Q8K1N2, Q8K3Y6, Q8R2Q0

Diamond homologs: A0JN74, A4QPC6, A6NGJ6, A6NI03, A6NK02, A6NLI5, A6NLU0, B1H278, C9J1S8, F4I443, F8VTS6, O00478, O00481, O15344, O15553, O70583, O95361, P14373, P15533, P18892, P82456, P82457, P82458, Q02084, Q13410, Q14134, Q1ACD5, Q1LY10, Q1XHU0, Q4R539, Q5BK82, Q5BN31, Q5C8U1, Q5C8U4, Q5D7H7, Q5D7H8, Q5D7I0, Q5D7I1, Q5D7I2, Q5D7I5

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
MAPKAPK2	“up-regulates activity”	TRIM29	phosphorylation

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	87
Likely benign	0
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

1423 predictions. Top by Δscore:

Variant	Effect	Δscore
11:120112472:TGAGA:T	acceptor_gain	1.0000
11:120112475:GA:G	acceptor_gain	1.0000
11:120112477:C:CC	acceptor_gain	1.0000
11:120115331:C:A	donor_gain	1.0000
11:120115411:TAGC:T	acceptor_gain	1.0000
11:120115415:C:CC	acceptor_gain	1.0000
11:120118218:CTCA:C	donor_loss	1.0000
11:120118219:TCA:T	donor_loss	1.0000
11:120118220:CACC:C	donor_loss	1.0000
11:120118222:C:A	donor_loss	1.0000
11:120118222:CCTTT:C	donor_gain	1.0000
11:120118317:GTTAC:G	acceptor_gain	1.0000
11:120118318:TTAC:T	acceptor_gain	1.0000
11:120118319:TAC:T	acceptor_gain	1.0000
11:120118320:AC:A	acceptor_gain	1.0000
11:120118321:CC:C	acceptor_gain	1.0000
11:120118321:CCT:C	acceptor_loss	1.0000
11:120118322:C:CC	acceptor_gain	1.0000
11:120118326:C:CT	acceptor_gain	1.0000
11:120118327:A:T	acceptor_gain	1.0000
11:120120568:CCTA:C	donor_loss	1.0000
11:120120571:A:AC	donor_gain	1.0000
11:120120571:ACCTT:A	donor_loss	1.0000
11:120120572:C:CC	donor_gain	1.0000
11:120120572:C:T	donor_loss	1.0000
11:120120661:CCCAC:C	acceptor_gain	1.0000
11:120120662:CCAC:C	acceptor_gain	1.0000
11:120120662:CCACC:C	acceptor_gain	1.0000
11:120120663:CACC:C	acceptor_gain	1.0000
11:120120666:C:CC	acceptor_gain	1.0000

AlphaMissense

3899 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:120125777:A:G	L416P	1.000
11:120137245:C:G	A263P	1.000
11:120137291:G:C	C247W	1.000
11:120137292:C:A	C247F	1.000
11:120137292:C:G	C247S	1.000
11:120137292:C:T	C247Y	1.000
11:120137293:A:G	C247R	1.000
11:120137293:A:T	C247S	1.000
11:120137300:G:C	C244W	1.000
11:120137301:C:A	C244F	1.000
11:120137301:C:G	C244S	1.000
11:120137301:C:T	C244Y	1.000
11:120137302:A:G	C244R	1.000
11:120137302:A:T	C244S	1.000
11:120137324:G:C	C236W	1.000
11:120137325:C:A	C236F	1.000
11:120137325:C:T	C236Y	1.000
11:120137326:A:G	C236R	1.000
11:120137327:G:C	F235L	1.000
11:120137327:G:T	F235L	1.000
11:120137328:A:G	F235S	1.000
11:120137329:A:G	F235L	1.000
11:120137331:A:G	L234P	1.000
11:120137348:A:C	H228Q	1.000
11:120137348:A:T	H228Q	1.000
11:120137357:A:C	C225W	1.000
11:120137358:C:G	C225S	1.000
11:120137358:C:T	C225Y	1.000
11:120137359:A:G	C225R	1.000
11:120137359:A:T	C225S	1.000

dbSNP variants (sampled 300 via entrez): RS1000096316 (11:120132615 A>G), RS1000102462 (11:120113837 A>G), RS1000149530 (11:120113618 G>A), RS1000181594 (11:120134926 G>A,T), RS1000206997 (11:120135151 G>A), RS1000299286 (11:120123615 C>A,G,T), RS1000399969 (11:120129632 C>T), RS1000610777 (11:120114112 T>A), RS1000921994 (11:120124394 C>T), RS1001027114 (11:120130241 C>T), RS1001156485 (11:120114874 G>A), RS1001199255 (11:120119521 T>C), RS1001302726 (11:120117565 G>A), RS1001309608 (11:120133442 G>A), RS1001314524 (11:120112001 G>A)

Disease associations

OMIM: gene MIM:610658 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

6 associations (top):

Study	Trait	p-value
GCST001680_1	Corneal curvature	4.000000e-07
GCST001689_3	Stroke (pediatric)	4.000000e-06
GCST001689_4	Stroke (pediatric)	4.000000e-07
GCST009103_2	Resistance to antihypertensive treatment in hypertension	2.000000e-06
GCST009144_4	Disease progression in age-related macular degeneration (adjusted for baseline)	3.000000e-06
GCST009959_13	Retinal detachment or retinal break	1.000000e-06

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0004345	corneal topography
EFO:1002006	treatment-resistant hypertension
EFO:0008336	disease progression measurement
EFO:0010698	retinal break

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	affects methylation, decreases expression, increases abundance, increases expression	3
Aflatoxin B1	increases expression, increases methylation	3
Air Pollutants	increases abundance, increases expression, decreases expression	2
Arsenic	increases methylation, increases abundance, increases expression	2
Benzo(a)pyrene	affects methylation, increases expression	2
Smoke	decreases expression, increases abundance, increases expression	2
sotorasib	affects cotreatment, increases expression	1
geraniol	increases expression	1
lead acetate	decreases expression	1
2,5,2’,5’-tetrachlorobiphenyl	increases expression	1
pyrogallol 1,3-dimethyl ether	affects cotreatment, decreases expression	1
beta-lapachone	increases expression	1
sulforaphane	decreases expression	1
16 alpha-ethyl-21-hydroxy-19-nor-4-pregnene-3,20-dione	increases expression	1
perfluorooctanoic acid	decreases expression	1
tobacco tar	decreases expression	1
benzo(e)pyrene	increases methylation	1
cupric chloride	decreases expression	1
nickel sulfate	increases expression	1
coumarin	increases phosphorylation	1
perfluorooctane sulfonic acid	decreases expression	1
4-((3-bromophenyl)amino)-6,7-dimethoxyquinazoline	affects cotreatment, affects expression, decreases expression	1
CGP 52608	affects binding, increases reaction	1
nutlin 3	affects cotreatment, increases expression	1
abrine	increases expression	1
NSC 689534	increases expression	1
trametinib	affects cotreatment, increases expression	1
NVP-BKM120	affects cotreatment, increases expression	1
Troglitazone	decreases expression, affects cotreatment, affects expression	1
Calcitriol	increases expression	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B2JP	Abcam HeLa TRIM29 KO	Cancer cell line	Female

Clinical trials (associated diseases)

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