TRIM35

Summary

TRIM35 (tripartite motif containing 35, HGNC:16285) is a protein-coding gene on chromosome 8p21.2, encoding E3 ubiquitin-protein ligase TRIM35 (Q9UPQ4). E3 ubiquitin-protein ligase that participates in multiple biological processes including cell death, glucose metabolism, and in particular, the innate immune response.

The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The function of this protein has not been identified.

Source: NCBI Gene 23087 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 84 total
• MANE Select transcript: NM_171982

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:16285
Approved symbol	TRIM35
Name	tripartite motif containing 35
Location	8p21.2
Locus type	gene with protein product
Status	Approved
Aliases	KIAA1098, MAIR, HLS5
Ensembl gene	ENSG00000104228
Ensembl biotype	protein_coding
OMIM	617007
Entrez	23087

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 4 protein_coding, 1 retained_intron

ENST00000305364, ENST00000519219, ENST00000521253, ENST00000521283, ENST00000853030

RefSeq mRNA: 3 — MANE Select: NM_171982 NM_001304495, NM_001362813, NM_171982

CCDS: CCDS6056, CCDS78322

Canonical transcript exons

ENST00000305364 — 6 exons

Exon	Start	End
ENSE00001041619	27290156	27290178
ENSE00001243719	27294080	27294310
ENSE00001243746	27310801	27311272
ENSE00001243759	27284886	27288127
ENSE00003551904	27289162	27289280
ENSE00003583595	27298464	27298559

Expression profiles

Bgee: expression breadth ubiquitous, 216 present calls, max score 92.38.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.5254 / max 96.6595, expressed in 1760 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
92442	9.5254	1760

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
calcaneal tendon	UBERON:0003701	92.38	gold quality
skin of leg	UBERON:0001511	89.00	gold quality
skin of abdomen	UBERON:0001416	88.83	gold quality
sural nerve	UBERON:0015488	88.74	gold quality
zone of skin	UBERON:0000014	87.48	gold quality
parotid gland	UBERON:0001831	85.15	gold quality
tendon	UBERON:0000043	84.90	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	84.53	gold quality
upper arm skin	UBERON:0004263	84.49	silver quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	84.17	gold quality
stromal cell of endometrium	CL:0002255	84.06	gold quality
secondary oocyte	CL:0000655	83.61	gold quality
colonic epithelium	UBERON:0000397	83.40	gold quality
popliteal artery	UBERON:0002250	83.32	gold quality
tibial artery	UBERON:0007610	83.29	gold quality
lower esophagus mucosa	UBERON:0035834	82.94	gold quality
kidney epithelium	UBERON:0004819	82.57	gold quality
aorta	UBERON:0000947	82.50	gold quality
oviduct epithelium	UBERON:0004804	82.47	gold quality
thoracic aorta	UBERON:0001515	81.57	gold quality
descending thoracic aorta	UBERON:0002345	81.53	gold quality
ascending aorta	UBERON:0001496	81.40	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	81.26	gold quality
corpus callosum	UBERON:0002336	81.21	gold quality
left coronary artery	UBERON:0001626	81.16	gold quality
saliva-secreting gland	UBERON:0001044	81.13	gold quality
oocyte	CL:0000023	81.09	gold quality
esophagus mucosa	UBERON:0002469	80.87	gold quality
tonsil	UBERON:0002372	80.77	gold quality
prefrontal cortex	UBERON:0000451	80.68	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.44

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): CEBPB

miRNA regulators (miRDB)

95 targeting TRIM35, 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-3924	100.00	72.09	2394
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-5193	100.00	67.26	1744
HSA-MIR-3689D	100.00	66.14	1181
HSA-MIR-6851-5P	100.00	65.63	1294
HSA-MIR-4534	99.99	66.58	1907
HSA-MIR-4282	99.99	75.36	6408
HSA-LET-7F-2-3P	99.98	70.98	2588
HSA-MIR-1185-1-3P	99.98	71.04	2593
HSA-MIR-1185-2-3P	99.98	71.04	2593
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-4487	99.96	64.58	1252
HSA-MIR-497-5P	99.92	71.83	2674
HSA-MIR-15A-5P	99.90	72.80	2787
HSA-MIR-15B-5P	99.90	72.78	2798
HSA-MIR-16-5P	99.90	72.80	2780
HSA-MIR-195-5P	99.90	72.81	2805
HSA-MIR-6783-3P	99.89	67.92	2059
HSA-MIR-1343-3P	99.89	66.78	1815
HSA-MIR-424-5P	99.89	71.90	2641
HSA-MIR-6838-5P	99.89	71.94	2690
HSA-MIR-6124	99.87	69.78	3551
HSA-MIR-6756-5P	99.82	67.97	2466
HSA-MIR-8080	99.82	67.52	1342
HSA-MIR-3121-3P	99.82	71.96	3630
HSA-MIR-202-5P	99.78	67.65	991
HSA-MIR-6764-5P	99.75	67.89	2304
HSA-MIR-187-5P	99.74	70.26	1404

Literature-anchored findings (GeneRIF, showing 11)

• gene located on chromosome 8p21, a region implicated in leukemias and solid tumors; enforced expression inhibited cell growth, clonogenicity, and tumorigenicity; conceivable HLS5 is one of the tumor suppressor genes thought to reside at the 8p21 locus (PMID:14662771)
• TRIM35 regulates the Warburg effect and tumorigenicity through interaction with PKM2 in hepatocellular carcinoma. (PMID:25263439)
• Data suggest that pyruvate kinase isoform M2 (PKM2)/tripartite motif-containing 35 (TRIM35) expression could be a biomarker for the prognosis of hepatocellular carcinoma (HCC) and target for cancer therapy. (PMID:25576919)
• Authors subsequently investigated whether miR-4417 and TRIM35 regulate HCC cell proliferation and apoptosis through PKM2 Y105 phosphorylation, and the results supported our speculation that miR-4417 targets TRIM35 and regulates the Y105 phosphorylation of PKM2 to promote hepatocarcinogenesis. (PMID:28394882)
• Tripartite motif containing 35 contributes to the proliferation, migration, and invasion of lung cancer cells in vitro and in vivo. (PMID:32293015)
• Suppression of DLBCL Progression by the E3 Ligase Trim35 Is Mediated by CLOCK Degradation and NK Cell Infiltration. (PMID:34124276)
• TRIM35 functions as a novel tumor suppressor in breast cancer by inducing cell apoptosis through ubiquitination of PDK1. (PMID:35081724)
• TRIM35 ubiquitination regulates the expression of PKM2 tetramer and dimer and affects the malignant behaviour of breast cancer by regulating the Warburg effect. (PMID:36196894)
• Inhibition of human adenovirus replication by TRIM35-mediated degradation of E1A. (PMID:37578239)
• IRF5 promotes glycolysis in the progression of hepatocellular carcinoma and is regulated by TRIM35. (PMID:37594849)
• TRIM35 triggers cardiac remodeling by regulating SLC7A5-mediated amino acid transport and mTORC1 activation in fibroblasts. (PMID:39304904)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Trim35	ENSMUSG00000022043
rattus_norvegicus	Trim35	ENSRNOG00000009449

Paralogs (80): MID2 (ENSG00000080561), TRIM9 (ENSG00000100505), MID1 (ENSG00000101871), MEFV (ENSG00000103313), 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), TRIM63 (ENSG00000158022)

Protein

Protein identifiers

E3 ubiquitin-protein ligase TRIM35 — Q9UPQ4 (reviewed: Q9UPQ4)

Alternative names: Hemopoietic lineage switch protein 5

All UniProt accessions (3): E5RGB3, Q9UPQ4, H0YBF3

UniProt curated annotations — full annotation on UniProt →

Function. E3 ubiquitin-protein ligase that participates in multiple biological processes including cell death, glucose metabolism, and in particular, the innate immune response. Mediates ‘Lys-63’-linked polyubiquitination of TRAF3 thereby promoting type I interferon production via RIG-I signaling pathway. Can also catalyze ‘Lys-48’-linked polyubiquitination and proteasomal degradation of viral proteins such as influenza virus PB2. Acts as a negative feedback regulator of TLR7- and TLR9-triggered signaling. Mechanistically, promotes the ‘Lys-48’-linked ubiquitination of IRF7 and induces its degradation via a proteasome-dependent pathway. Reduces FGFR1-dependent tyrosine phosphorylation of PKM, inhibiting PKM-dependent lactate production, glucose metabolism, and cell growth.

Subunit / interactions. Interacts with PKM isoform M2, but not isoform M1; this interaction may compete with that between PKM and FGFR1, and hence reduces FGFR1-dependent tyrosine phosphorylation of PKM. Interacts with IRF7; this interaction promotes IRF7 proteasomal degradation. Interacts with TRAF3; this interaction promotes TRAF3 activation.

Subcellular location. Cytoplasm. Nucleus.

Domain organisation. The RING finger domain and the coiled-coil region are required for the apoptosis-inducing activity.

Induction. By TLR7 and TLR9 stimulation.

Pathway. Protein modification; protein ubiquitination.

Similarity. Belongs to the TRIM/RBCC family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9UPQ4-1	1	yes
Q9UPQ4-2	2

RefSeq proteins (3): NP_001291424, NP_001349742, NP_741983* (*=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
IPR027370	Znf-RING_euk	Domain
IPR043136	B30.2/SPRY_sf	Homologous_superfamily
IPR050143	TRIM/RBCC	Family

Pfam: PF00622, PF00643, PF13445, PF13765

UniProt features (13 total): binding site 4, modified residue 3, zinc finger region 2, chain 1, domain 1, splice variant 1, coiled-coil region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UPQ4-F1	88.65	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.

Ligand- & substrate-binding residues (4): 101; 104; 123; 129

Post-translational modifications (3): 4, 8, 1

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-877300	Interferon gamma signaling

MSigDB gene sets: 111 (showing top): REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, chr8p21, GOBP_NEGATIVE_REGULATION_OF_CELL_CYCLE, GOBP_REGULATION_OF_CELL_CYCLE, MODULE_206, GOBP_NEGATIVE_REGULATION_OF_MITOTIC_CELL_CYCLE, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, GOBP_MITOTIC_CELL_CYCLE, GOBP_DEFENSE_RESPONSE_TO_VIRUS, DING_LUNG_CANCER_EXPRESSION_BY_COPY_NUMBER, RIGGI_EWING_SARCOMA_PROGENITOR_UP, MILI_PSEUDOPODIA_CHEMOTAXIS_DN, GOBP_RESPONSE_TO_VIRUS, AAGCACA_MIR218

GO Biological Process (6): apoptotic process (GO:0006915), protein ubiquitination (GO:0016567), positive regulation of apoptotic process (GO:0043065), suppression of viral release by host (GO:0044790), innate immune response (GO:0045087), negative regulation of mitotic cell cycle (GO:0045930)

GO Molecular Function (5): zinc ion binding (GO:0008270), ubiquitin protein ligase activity (GO:0061630), protein binding (GO:0005515), transferase activity (GO:0016740), metal ion binding (GO:0046872)

GO Cellular Component (2): nucleus (GO:0005634), 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
programmed cell death	1
apoptotic signaling pathway	1
execution phase of apoptosis	1
protein modification by small protein conjugation	1
apoptotic process	1
regulation of apoptotic process	1
positive regulation of programmed cell death	1
defense response to virus	1
immune response	1
defense response to symbiont	1
mitotic cell cycle	1
regulation of mitotic cell cycle	1
negative regulation of cell cycle	1
transition metal ion 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
cellular anatomical structure	1

Protein interactions and networks

STRING

667 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TRIM35	CCDC27	Q2M243	582
TRIM35	TRIM32	Q13049	578
TRIM35	PIAS1	O75925	502
TRIM35	TRIM66	O15016	467
TRIM35	TRAT1	Q6PIZ9	447
TRIM35	TRIM44	Q96DX7	444
TRIM35	TRIM55	Q9BYV6	419
TRIM35	TRIM14	Q14142	400
TRIM35	TRIM16L	Q309B1	396
TRIM35	PARD3B	Q8TEW8	392
TRIM35	TRIM37	O94972	391
TRIM35	TNFAIP6	P98066	385
TRIM35	KCTD10	Q9H3F6	370
TRIM35	ALOX5AP	P20292	368
TRIM35	BBOX1	O75936	359
TRIM35	TRIM3	O75382	359

IntAct

21 interactions, top by confidence:

A	B	Type	Score
TRAPPC2L	TRAPPC13	psi-mi:“MI:0914”(association)	0.560
CHMP2A	DECR1	psi-mi:“MI:0914”(association)	0.530
TRIM35	MTA2	psi-mi:“MI:0914”(association)	0.530
TRIM10	WIZ	psi-mi:“MI:0914”(association)	0.530
TRIM35	UBE2U	psi-mi:“MI:0915”(physical association)	0.370
TRIM35	HIP2	psi-mi:“MI:0915”(physical association)	0.370
TRIM35	TSG101	psi-mi:“MI:0915”(physical association)	0.370
UBE2W	TRIM35	psi-mi:“MI:0915”(physical association)	0.370
TRIM35	UBE2D1	psi-mi:“MI:0915”(physical association)	0.370
TRIM35	UBE2D2	psi-mi:“MI:0915”(physical association)	0.370
TRIM35	UBE2D3	psi-mi:“MI:0915”(physical association)	0.370
TRIM35	UBE2D4	psi-mi:“MI:0915”(physical association)	0.370
TRIM35	TRIM11	psi-mi:“MI:0915”(physical association)	0.370
TRIM35	LIMK2	psi-mi:“MI:0914”(association)	0.350
TRIM10	POLRMT	psi-mi:“MI:0914”(association)	0.350
M		psi-mi:“MI:0914”(association)	0.350
TRIM10	VWA8	psi-mi:“MI:0914”(association)	0.350
TRIM35	APAF1	psi-mi:“MI:0914”(association)	0.350

BioGRID (117): TRIM35 (Affinity Capture-MS), PKM (Affinity Capture-MS), PKM (Affinity Capture-Western), TRIM35 (Affinity Capture-Western), TRIM35 (Reconstituted Complex), TRIM35 (Affinity Capture-MS), TRIM35 (Affinity Capture-MS), AKTIP (Affinity Capture-MS), PPP2R2D (Affinity Capture-MS), OTUD5 (Affinity Capture-MS), KDM5C (Affinity Capture-MS), KLHL11 (Affinity Capture-MS), WDR20 (Affinity Capture-MS), LIMD1 (Affinity Capture-MS), PPP2R1B (Affinity Capture-MS)

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: A5WW08, O75382, P29128, P29836, Q54BF0, Q5FWP4, Q5RBG2, Q5RF77, Q5RKG6, Q6P256, Q6PJ69, Q810L3, Q8C006, Q96EP1, Q9UPQ4, A0JN74, A0JPQ4, A6NLI5, A7E320, B1H278, B2RYR0, D3YY23, O19085, O54952, O60106, O64425, P10862, P15918, P33288, P38398, P48754, Q02084, Q02398, Q03605, Q0IIM1, Q14258, Q17RB8, Q1L5Z9, Q1XH17, Q1XH18

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
Ub:E2	“up-regulates activity”	TRIM35	ubiquitination

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 21 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.

Reactome pathways:

Pathway	Partners	Fold	FDR
Antigen processing: Ubiquitination & Proteasome degradation	7	15.3×	2e-05

GO biological processes:

GO term	Partners	Fold	FDR
protein polyubiquitination	5	32.1×	5e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	73
Likely benign	0
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

775 predictions. Top by Δscore:

Variant	Effect	Δscore
8:27288123:GGGTA:G	acceptor_gain	1.0000
8:27288124:GGTA:G	acceptor_gain	1.0000
8:27288125:GTA:G	acceptor_gain	1.0000
8:27288126:TA:T	acceptor_gain	1.0000
8:27288127:AC:A	acceptor_loss	1.0000
8:27288128:C:A	acceptor_loss	1.0000
8:27288128:C:CC	acceptor_gain	1.0000
8:27288135:C:CT	acceptor_gain	1.0000
8:27289156:GCTCA:G	donor_loss	1.0000
8:27289157:CTCA:C	donor_loss	1.0000
8:27289159:CACC:C	donor_loss	1.0000
8:27289160:A:AC	donor_gain	1.0000
8:27289160:ACCA:A	donor_loss	1.0000
8:27289161:C:A	donor_loss	1.0000
8:27289161:C:CC	donor_gain	1.0000
8:27289276:AGAGT:A	acceptor_gain	1.0000
8:27289277:GAGT:G	acceptor_gain	1.0000
8:27289278:AGT:A	acceptor_gain	1.0000
8:27289279:GT:G	acceptor_gain	1.0000
8:27289280:TC:T	acceptor_loss	1.0000
8:27289281:C:CC	acceptor_gain	1.0000
8:27289282:T:C	acceptor_loss	1.0000
8:27294306:TCCAC:T	acceptor_gain	1.0000
8:27294307:CCAC:C	acceptor_gain	1.0000
8:27294307:CCACC:C	acceptor_gain	1.0000
8:27294308:CAC:C	acceptor_gain	1.0000
8:27294308:CACC:C	acceptor_gain	1.0000
8:27294309:AC:A	acceptor_gain	1.0000
8:27294310:CC:C	acceptor_gain	1.0000
8:27294311:C:CC	acceptor_gain	1.0000

AlphaMissense

3222 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
8:27311020:G:C	N72K	0.998
8:27311020:G:T	N72K	0.998
8:27311067:A:G	C57R	0.997
8:27311119:G:C	N39K	0.997
8:27311119:G:T	N39K	0.997
8:27311175:A:G	C21R	0.997
8:27287958:C:A	W358C	0.996
8:27287958:C:G	W358C	0.996
8:27287960:A:G	W358R	0.996
8:27287960:A:T	W358R	0.996
8:27311115:A:G	C41R	0.996
8:27311116:G:C	F40L	0.996
8:27311116:G:T	F40L	0.996
8:27311118:A:G	F40L	0.996
8:27311122:G:C	H38Q	0.996
8:27311122:G:T	H38Q	0.996
8:27287710:A:G	F441S	0.994
8:27310903:G:C	F111L	0.994
8:27310903:G:T	F111L	0.994
8:27310905:A:G	F111L	0.994
8:27311003:A:G	L78P	0.994
8:27311012:A:T	L75H	0.994
8:27311057:C:G	C60S	0.994
8:27311058:A:T	C60S	0.994
8:27311065:G:C	C57W	0.994
8:27311114:C:T	C41Y	0.994
8:27311117:A:G	F40S	0.994
8:27311141:A:T	V32D	0.994
8:27311153:A:G	F28S	0.994
8:27311166:A:G	C24R	0.994

dbSNP variants (sampled 300 via entrez): RS1000016605 (8:27298383 C>A,G,T), RS1000072560 (8:27292381 C>A), RS1000123031 (8:27292683 G>T), RS1000130425 (8:27299243 T>C), RS1000135689 (8:27311637 C>A), RS1000241151 (8:27303420 T>C), RS1000284089 (8:27286936 C>T), RS1000520111 (8:27285492 T>C), RS1000703782 (8:27309082 C>T), RS1000781867 (8:27309286 G>A), RS1000856019 (8:27303629 G>A), RS1000856147 (8:27292806 G>A), RS1001040228 (8:27286808 A>C), RS1001077172 (8:27290679 T>A), RS1001158430 (8:27309388 G>A,C)

Disease associations

OMIM: gene MIM:617007 | 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
GCST003043_91	Inflammatory bowel disease	6.000000e-08
GCST003044_18	Crohn’s disease	2.000000e-06
GCST004748_130	Lung cancer	2.000000e-06
GCST007576_124	Chronotype	2.000000e-09

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0008328	chronotype 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
Benzo(a)pyrene	increases expression	3
Acetaminophen	increases expression	2
Cisplatin	affects cotreatment, increases expression	2
Valproic Acid	decreases methylation, increases expression	2
Cyclosporine	increases expression	2
TAK-243	increases sumoylation	1
triphenyl phosphate	affects expression	1
bisphenol A	affects cotreatment, increases expression	1
di-n-butylphosphoric acid	affects expression	1
Grape Seed Proanthocyanidins	increases expression, affects cotreatment	1
jinfukang	affects cotreatment, increases expression	1
Sunitinib	decreases expression	1
Catechin	affects cotreatment, increases expression	1
Dexamethasone	increases expression, affects cotreatment	1
Estradiol	increases expression	1
Ethyl Methanesulfonate	increases expression	1
Formaldehyde	increases expression	1
Indomethacin	affects cotreatment, increases expression	1
Malathion	decreases expression	1
Methyl Methanesulfonate	increases expression	1
Smoke	decreases expression	1
Urethane	decreases expression	1
1-Methyl-3-isobutylxanthine	affects cotreatment, increases expression	1
Aflatoxin B1	decreases methylation	1
Sodium Selenite	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_TU14	HAP1 TRIM35 (-)	Cancer cell line	Male

Clinical trials (associated diseases)

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