ATG4C

Summary

ATG4C (autophagy related 4C cysteine peptidase, HGNC:16040) is a protein-coding gene on chromosome 1p31.3, encoding Cysteine protease ATG4C (Q96DT6). Cysteine protease that plays a key role in autophagy by mediating both proteolytic activation and delipidation of ATG8 family proteins.

Autophagy is the process by which endogenous proteins and damaged organelles are destroyed intracellularly. Autophagy is postulated to be essential for cell homeostasis and cell remodeling during differentiation, metamorphosis, non-apoptotic cell death, and aging. Reduced levels of autophagy have been described in some malignant tumors, and a role for autophagy in controlling the unregulated cell growth linked to cancer has been proposed. This gene encodes a member of the autophagin protein family. The encoded protein is also designated as a member of the C-54 family of cysteine proteases. Alternate transcriptional splice variants, encoding the same protein, have been characterized.

Source: NCBI Gene 84938 — RefSeq curated summary.

At a glance

• GWAS associations: 7
• Clinical variants (ClinVar): 86 total
• MANE Select transcript: NM_032852

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:16040
Approved symbol	ATG4C
Name	autophagy related 4C cysteine peptidase
Location	1p31.3
Locus type	gene with protein product
Status	Approved
Aliases	FLJ14867, AUTL3
Ensembl gene	ENSG00000125703
Ensembl biotype	protein_coding
OMIM	611339
Entrez	84938

Gene structure

Transcript identifiers

Ensembl transcripts: 33 — 33 protein_coding

ENST00000317868, ENST00000371118, ENST00000371120, ENST00000414558, ENST00000443289, ENST00000852833, ENST00000852834, ENST00000852835, ENST00000852836, ENST00000852837, ENST00000852838, ENST00000852839, ENST00000852840, ENST00000852841, ENST00000852842, ENST00000852843, ENST00000852844, ENST00000852845, ENST00000852846, ENST00000852847, ENST00000852848, ENST00000929148, ENST00000929149, ENST00000929150, ENST00000929151, ENST00000929152, ENST00000929153, ENST00000929154, ENST00000945356, ENST00000945357, ENST00000945358, ENST00000945359, ENST00000945360

RefSeq mRNA: 2 — MANE Select: NM_032852 NM_032852, NM_178221

CCDS: CCDS623

Canonical transcript exons

ENST00000317868 — 11 exons

Exon	Start	End
ENSE00000906238	62841428	62841547
ENSE00000906239	62834776	62834852
ENSE00000906240	62834038	62834116
ENSE00001066795	62803719	62803862
ENSE00001066796	62805172	62805255
ENSE00001066797	62819005	62819335
ENSE00001066798	62829040	62829176
ENSE00001066799	62816575	62816808
ENSE00001066801	62821139	62821209
ENSE00003848563	62784132	62784273
ENSE00003848790	62863992	62865516

Expression profiles

Bgee: expression breadth ubiquitous, 238 present calls, max score 95.19.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 19.8744 / max 542.7415, expressed in 1775 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
3165	17.4957	1757
3164	1.3664	861
3166	1.0123	456

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
corpus callosum	UBERON:0002336	95.19	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	90.45	gold quality
oocyte	CL:0000023	88.73	gold quality
inferior vagus X ganglion	UBERON:0005363	88.33	gold quality
Brodmann (1909) area 46	UBERON:0006483	88.12	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	87.92	gold quality
spinal cord	UBERON:0002240	87.39	gold quality
secondary oocyte	CL:0000655	86.39	gold quality
substantia nigra	UBERON:0002038	85.33	gold quality
subthalamic nucleus	UBERON:0001906	85.11	gold quality
midbrain	UBERON:0001891	85.09	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	84.97	gold quality
Ammon’s horn	UBERON:0001954	84.52	gold quality
monocyte	CL:0000576	84.51	gold quality
calcaneal tendon	UBERON:0003701	84.41	gold quality
leukocyte	CL:0000738	84.34	gold quality
prefrontal cortex	UBERON:0000451	83.88	gold quality
Brodmann (1909) area 9	UBERON:0013540	83.66	gold quality
pons	UBERON:0000988	83.38	gold quality
pigmented layer of retina	UBERON:0001782	83.29	gold quality
putamen	UBERON:0001874	83.13	gold quality
superior vestibular nucleus	UBERON:0007227	83.12	gold quality
medulla oblongata	UBERON:0001896	83.10	gold quality
amygdala	UBERON:0001876	82.99	gold quality
bone marrow cell	CL:0002092	82.98	gold quality
smooth muscle tissue	UBERON:0001135	82.66	gold quality
primary visual cortex	UBERON:0002436	82.52	gold quality
caudate nucleus	UBERON:0001873	82.47	gold quality
dorsal plus ventral thalamus	UBERON:0001897	82.24	gold quality
occipital lobe	UBERON:0002021	82.18	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	7.37

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): NR1I2, STAT1

miRNA regulators (miRDB)

80 targeting ATG4C, 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-3163	100.00	77.23	8605
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-6870-5P	99.99	68.55	2115
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-4723-5P	99.97	68.70	2034
HSA-MIR-5698	99.97	68.49	2029
HSA-MIR-7111-5P	99.97	68.48	2062
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-6809-3P	99.91	71.45	3814
HSA-MIR-1305	99.91	71.43	3443
HSA-MIR-7-1-3P	99.91	71.53	4384
HSA-MIR-7-2-3P	99.91	71.40	4394
HSA-MIR-4753-3P	99.90	71.03	3786
HSA-MIR-3671	99.90	73.04	3897
HSA-MIR-374A-5P	99.90	71.34	2923
HSA-MIR-374B-5P	99.90	69.98	2734
HSA-MIR-4496	99.88	68.89	2236

Literature-anchored findings (GeneRIF, showing 9)

• miR-376b controls autophagy by directly regulating intracellular levels of two key autophagy proteins, ATG4C and BECN1. (PMID:22248718)
• association between SNPs and Kashin-Beck disease (PMID:27742532)
• We demonstrate that, in breast cancer cells, ATM and ATG4C are essential drivers of mammosphere formation, suggesting that their targeting may improve current approaches to eradicate breast cancer cells with a stem-like phenotype. (PMID:28423511)
• Human HAP1 and HeLa cells lacking ATG4B exhibit a severe but incomplete defect in LC3/GABARAP processing and autophagy. By further genetic depletion of ATG4 isoforms using CRISPR-Cas9 and siRNA we uncover that ATG4A, ATG4C and ATGD all contribute to residual priming activity, which is sufficient to enable lipidation of endogenous GABARAPL1 on autophagic structures. (PMID:30661429)
• our results suggested that increased ATG4C expression was associated with worse prognosis in glioma patients. Knockdown of ATG4C suppressed glioma progression by inducing cell cycle arrest and promoting apoptosis of glioma cells possibly through increasing ROS production. (PMID:31291988)
• CAV1 and ATG4C serve as useful prognostic biomarkers and candidate therapeutic targets in EOC (PMID:32401768)
• ATG4 family proteins drive phagophore growth independently of the LC3/GABARAP lipidation system. (PMID:33773106)
• MicroRNA-142-3p inhibits autophagy and promotes intracellular survival of Mycobacterium tuberculosis by targeting ATG16L1 and ATG4c. (PMID:34619495)
• Epigallocatechin-3-gallate protects cardiomyocytes from hypoxia-reoxygenation damage via raising autophagy related 4C expression. (PMID:34699312)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	atg4c	ENSDARG00000044373
mus_musculus	Atg4c	ENSMUSG00000028550
rattus_norvegicus	Atg4c	ENSRNOG00000008767
drosophila_melanogaster	Atg4b	FBGN0038325

Paralogs (3): ATG4A (ENSG00000101844), ATG4D (ENSG00000130734), ATG4B (ENSG00000168397)

Protein

Protein identifiers

Cysteine protease ATG4C — Q96DT6 (reviewed: Q96DT6)

Alternative names: AUT-like 3 cysteine endopeptidase, Autophagy-related cysteine endopeptidase 3, Autophagy-related protein 4 homolog C

All UniProt accessions (5): Q96DT6, A0A384MTY5, A6NGQ4, C9JC51, H7BZW5

UniProt curated annotations — full annotation on UniProt →

Function. Cysteine protease that plays a key role in autophagy by mediating both proteolytic activation and delipidation of ATG8 family proteins. The protease activity is required for proteolytic activation of ATG8 family proteins: cleaves the C-terminal amino acid of ATG8 proteins MAP1LC3 and GABARAPL2, to reveal a C-terminal glycine. Exposure of the glycine at the C-terminus is essential for ATG8 proteins conjugation to phosphatidylethanolamine (PE) and insertion to membranes, which is necessary for autophagy. In addition to the protease activity, also mediates delipidation of ATG8 family proteins. Catalyzes delipidation of PE-conjugated forms of ATG8 proteins during macroautophagy. Compared to ATG4B, the major protein for proteolytic activation of ATG8 proteins, shows weaker ability to cleave the C-terminal amino acid of ATG8 proteins, while it displays stronger delipidation activity. In contrast to other members of the family, weakly or not involved in phagophore growth during mitophagy.

Subcellular location. Cytoplasm.

Activity regulation. Inhibited by N-ethylmaleimide.

Similarity. Belongs to the peptidase C54 family.

RefSeq proteins (2): NP_116241, NP_835739 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR005078	Peptidase_C54	Family
IPR038765	Papain-like_cys_pep_sf	Homologous_superfamily
IPR046792	Peptidase_C54_cat	Domain
IPR046793	ATG4_LIR	Conserved_site

Pfam: PF03416, PF20166

Catalyzed reactions (Rhea), 1 shown:

• [protein]-C-terminal L-amino acid-glycyl-phosphatidylethanolamide + H2O = [protein]-C-terminal L-amino acid-glycine + a 1,2-diacyl-sn-glycero-3-phosphoethanolamine (RHEA:67548)

UniProt features (7 total): active site 3, modified residue 3, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96DT6-F1	79.93	0.60

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (3): 111 (nucleophile); 345; 347

Post-translational modifications (3): 1, 451, 452

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-1632852	Macroautophagy
R-HSA-9612973	Autophagy

MSigDB gene sets: 122 (showing top): GOBP_VACUOLE_ORGANIZATION, GOBP_MACROAUTOPHAGY, GOBP_PROTEIN_MATURATION, GOMF_CYSTEINE_TYPE_PEPTIDASE_ACTIVITY, GOBP_ORGANELLE_ASSEMBLY, GOBP_AUTOPHAGOSOME_ORGANIZATION, GOBP_PROTEOLYSIS, GOMF_PEPTIDASE_ACTIVITY, WANG_RESPONSE_TO_GSK3_INHIBITOR_SB216763_UP, GOBP_AUTOPHAGY_OF_MITOCHONDRION, GOBP_MITOPHAGY, GOBP_PROTEIN_PROCESSING, GOBP_AGGREPHAGY, GOBP_NUCLEOPHAGY, GOBP_PROCESS_UTILIZING_AUTOPHAGIC_MECHANISM

GO Biological Process (9): autophagosome assembly (GO:0000045), mitophagy (GO:0000423), proteolysis (GO:0006508), autophagy (GO:0006914), protein transport (GO:0015031), protein processing (GO:0016485), piecemeal microautophagy of the nucleus (GO:0034727), aggrephagy (GO:0035973), protein delipidation (GO:0051697)

GO Molecular Function (6): cysteine-type endopeptidase activity (GO:0004197), cysteine-type peptidase activity (GO:0008234), protein-phosphatidylethanolamide deconjugating activity (GO:0019786), protein binding (GO:0005515), peptidase activity (GO:0008233), hydrolase activity (GO:0016787)

GO Cellular Component (1): cytoplasm (GO:0005737)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Autophagy	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
macroautophagy	2
hydrolase activity	2
catalytic activity, acting on a protein	2
Atg12 activating enzyme activity	1
protein-phosphatidylethanolamide deconjugating activity	1
Atg12 conjugating enzyme activity	1
Atg12 ligase activity	1
organelle assembly	1
Atg1/ULK1 kinase complex assembly	1
autophagosome organization	1
autophagy of mitochondrion	1
protein metabolic process	1
catabolic process	1
transmembrane transport	1
process utilizing autophagic mechanism	1
transport	1
intracellular protein localization	1
establishment of protein localization	1
proteolysis	1
protein maturation	1
microautophagy	1
nucleophagy	1
nucleus disassembly	1
protein modification process	1
endopeptidase activity	1
cysteine-type peptidase activity	1
peptidase activity	1
binding	1
catalytic activity	1
intracellular anatomical structure	1
cellular anatomical structure	1

Protein interactions and networks

STRING

830 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ATG4C	ATG3	Q9NT62	874
ATG4C	ATG7	O95352	874
ATG4C	ATG5	Q9H1Y0	868
ATG4C	GABARAP	O95166	858
ATG4C	ATG10	Q9H0Y0	855
ATG4C	ATG12	O94817	852
ATG4C	GABARAPL2	P60520	845
ATG4C	F5GZY7	F5GZY7	845
ATG4C	ATG16L1	Q676U5	798
ATG4C	BECN1	Q14457	744
ATG4C	PIK3C3	Q8NEB9	711
ATG4C	ATG14	Q6ZNE5	709
ATG4C	UVRAG	Q9P2Y5	704
ATG4C	ATG13	O75143	701
ATG4C	ATG2B	Q96BY7	690

IntAct

37 interactions, top by confidence:

A	B	Type	Score
GSTA2	GSTA4	psi-mi:“MI:0914”(association)	0.920
WASL	WIPF3	psi-mi:“MI:0914”(association)	0.740
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
KLHL22	TMEM223	psi-mi:“MI:0914”(association)	0.640
HTT	ATG4C	psi-mi:“MI:0915”(physical association)	0.560
ATG4C	GABARAPL2	psi-mi:“MI:0915”(physical association)	0.400
ATG4C	SQSTM1	psi-mi:“MI:0915”(physical association)	0.400
RAB3IL1	PPFIA3	psi-mi:“MI:0914”(association)	0.350
ATG4C	SPTLC1	psi-mi:“MI:0914”(association)	0.350
ATG16L1	ESYT2	psi-mi:“MI:0914”(association)	0.350
ZHX1-C8orf76	FANCG	psi-mi:“MI:0914”(association)	0.350

BioGRID (45): ATG4C (Affinity Capture-MS), ATG4C (Affinity Capture-MS), ATG4C (Affinity Capture-MS), ATG4C (Affinity Capture-MS), ATG4C (Affinity Capture-MS), ATG4C (Reconstituted Complex), ATG4C (Reconstituted Complex), ATG4C (Proximity Label-MS), ATG4C (Proximity Label-MS), ATG4C (Proximity Label-MS), ATG4C (Proximity Label-MS), ATG4C (Proximity Label-MS), ATG4C (Proximity Label-MS), TRAF7 (Affinity Capture-MS), ATG4D (Affinity Capture-MS)

ESM2 similar proteins: A0A0G2QC33, A0FKG7, A6H7H7, F1N9S8, O95453, P0C0T1, P42694, P50747, P69341, Q0IIH8, Q0VGM9, Q13572, Q28559, Q4R528, Q5BJZ6, Q5F480, Q5R699, Q5RC51, Q5ZIA0, Q5ZIW7, Q640G7, Q6DDJ3, Q6DFV5, Q6DG88, Q6DJB3, Q6GR37, Q6NYU2, Q6PZ02, Q6PZ03, Q6PZ05, Q7T0P6, Q80UY1, Q80YV4, Q811C2, Q8BGE6, Q8BYN3, Q8C9S8, Q8N4J0, Q8VDG3, Q8WYN0

Diamond homologs: A0A0G2QC33, A1CJ08, A2Q1V6, A2QY50, A2XHJ5, A6SDQ3, A7F045, A7KAI3, A7KAL5, E2RDP2, P0CQ10, P0CQ11, Q0U199, Q1E5M9, Q2HH40, Q2U5B0, Q2XPP4, Q4U3V5, Q523C3, Q5B7L0, Q5R699, Q5XH30, Q5ZIW7, Q640G7, Q684M2, Q68EP9, Q6CH28, Q6DG88, Q6GPU1, Q6PZ02, Q6PZ03, Q6PZ05, Q75E61, Q75KP8, Q7S3X7, Q7XPW8, Q811C2, Q86TL0, Q86ZL5, Q8BGE6

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 24 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
Macroautophagy	5	26.2×	1e-04

GO biological processes:

GO term	Partners	Fold	FDR
mitophagy	5	72.3×	1e-06

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	68
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

3018 predictions. Top by Δscore:

Variant	Effect	Δscore
1:62803708:A:AG	acceptor_gain	1.0000
1:62803715:A:AG	acceptor_gain	1.0000
1:62803718:G:GA	acceptor_gain	1.0000
1:62803718:GTCA:G	acceptor_gain	1.0000
1:62803858:ATATA:A	donor_gain	1.0000
1:62803859:TATA:T	donor_gain	1.0000
1:62803860:ATA:A	donor_gain	1.0000
1:62803861:TA:T	donor_gain	1.0000
1:62803861:TAGTA:T	donor_loss	1.0000
1:62803862:AGT:A	donor_loss	1.0000
1:62803863:G:GG	donor_gain	1.0000
1:62803863:G:T	donor_loss	1.0000
1:62803864:TAAG:T	donor_loss	1.0000
1:62805170:AGGTT:A	acceptor_gain	1.0000
1:62805171:GGTT:G	acceptor_gain	1.0000
1:62805171:GGTTG:G	acceptor_gain	1.0000
1:62805251:TGAAG:T	donor_gain	1.0000
1:62805252:GAAG:G	donor_gain	1.0000
1:62805252:GAAGG:G	donor_gain	1.0000
1:62805254:AG:A	donor_gain	1.0000
1:62805254:AGGT:A	donor_loss	1.0000
1:62805255:GG:G	donor_gain	1.0000
1:62805255:GGTA:G	donor_loss	1.0000
1:62805256:G:GG	donor_gain	1.0000
1:62805256:GTA:G	donor_loss	1.0000
1:62805257:T:A	donor_loss	1.0000
1:62821137:A:AG	acceptor_gain	1.0000
1:62821138:G:GG	acceptor_gain	1.0000
1:62821138:GAAAA:G	acceptor_gain	1.0000
1:62829038:A:AG	acceptor_gain	1.0000

AlphaMissense

3031 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:62816739:T:A	W109R	1.000
1:62816739:T:C	W109R	1.000
1:62819301:T:A	W231R	1.000
1:62819301:T:C	W231R	1.000
1:62834108:G:A	G335E	1.000
1:62816676:T:A	W88R	0.999
1:62816676:T:C	W88R	0.999
1:62816685:T:C	Y91H	0.999
1:62816689:G:C	R92T	0.999
1:62816689:G:T	R92M	0.999
1:62816690:G:C	R92S	0.999
1:62816690:G:T	R92S	0.999
1:62816730:G:C	D106H	0.999
1:62816741:G:C	W109C	0.999
1:62816741:G:T	W109C	0.999
1:62816742:G:C	G110R	0.999
1:62816743:G:A	G110D	0.999
1:62816745:T:C	C111R	0.999
1:62816747:C:G	C111W	0.999
1:62816755:G:C	R114T	0.999
1:62816756:A:C	R114S	0.999
1:62816756:A:T	R114S	0.999
1:62816761:G:A	G116D	0.999
1:62819303:G:C	W231C	0.999
1:62819303:G:T	W231C	0.999
1:62819311:C:A	P234Q	0.999
1:62829040:T:A	V266D	0.999
1:62834065:G:C	G321R	0.999
1:62834066:G:A	G321D	0.999
1:62834075:G:A	G324D	0.999

dbSNP variants (sampled 300 via entrez): RS1000018508 (1:62860202 C>A,T), RS1000026797 (1:62786066 G>A,T), RS1000052908 (1:62859845 C>T), RS1000061760 (1:62829508 G>A,C,T), RS1000102416 (1:62829985 A>G), RS1000134961 (1:62813177 A>C), RS1000242727 (1:62862583 T>C), RS1000278301 (1:62819998 A>G), RS1000302358 (1:62792701 T>C), RS1000444967 (1:62810002 A>G), RS1000485940 (1:62813584 C>G), RS1000502607 (1:62824663 C>G,T), RS1000554718 (1:62787813 G>A), RS1000632333 (1:62864514 A>C), RS1000647985 (1:62817526 T>C)

Disease associations

OMIM: gene MIM:611339 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

7 associations (top):

Study	Trait	p-value
GCST000138_4	Triglycerides	2.000000e-08
GCST000837_6	Weight	4.000000e-06
GCST000840_3	Body mass index	6.000000e-07
GCST002690_1	Very long-chain saturated fatty acid levels (fatty acid 20:0)	7.000000e-07
GCST002911_10	Calcium levels	9.000000e-06
GCST003445_6	Response to cyclophosphamide in systemic lupus erythematosus with lupus nephritis	2.000000e-06
GCST005780_1	Triglyceride levels	2.000000e-08

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0004530	triglyceride measurement
EFO:0004338	body weight
EFO:0004340	body mass index
EFO:0006796	very long-chain saturated fatty acid measurement
EFO:0004838	calcium 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
aristolochic acid I	decreases expression	1
FR900359	decreases phosphorylation	1
dicrotophos	decreases expression	1
triphenyl phosphate	affects expression	1
arsenite	increases reaction, affects binding	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
sodium arsenite	decreases expression	1
1,2,5,6-dibenzanthracene	increases expression	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
di-n-butylphosphoric acid	affects expression	1
trovafloxacin	affects cotreatment, decreases expression	1
abrine	decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Benzo(a)pyrene	affects methylation	1
Clorgyline	increases expression	1
Lipopolysaccharides	decreases expression, affects response to substance, increases expression	1
Smoke	decreases expression, increases abundance	1
Tetrachlorodibenzodioxin	affects expression	1
Tobacco Smoke Pollution	affects expression	1
Valproic Acid	increases expression	1
Sodium Selenite	increases expression	1
Copper Sulfate	decreases expression	1
Particulate Matter	increases expression	1

Cellosaurus cell lines

1 cell lines: 1 transformed cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B2SB	Abcam HEK293T ATG4C KO	Transformed cell line	Female

Clinical trials (associated diseases)

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