TOM1L1

Summary

TOM1L1 (target of myb1 like 1 membrane trafficking protein, HGNC:11983) is a protein-coding gene on chromosome 17q22, encoding TOM1-like protein 1 (O75674). Probable adapter protein involved in signaling pathways.

Enables clathrin binding activity and protein kinase binding activity. Involved in negative regulation of mitotic nuclear division; positive regulation of protein phosphorylation; and signal transduction. Located in cytosol and endosome.

Source: NCBI Gene 10040 — RefSeq curated summary.

At a glance

• GWAS associations: 6
• Clinical variants (ClinVar): 87 total
• MANE Select transcript: NM_005486

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:11983
Approved symbol	TOM1L1
Name	target of myb1 like 1 membrane trafficking protein
Location	17q22
Locus type	gene with protein product
Status	Approved
Aliases	SRCASM
Ensembl gene	ENSG00000141198
Ensembl biotype	protein_coding
OMIM	604701
Entrez	10040

Gene structure

Transcript identifiers

Ensembl transcripts: 39 — 30 protein_coding, 4 retained_intron, 4 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000348161, ENST00000445275, ENST00000536554, ENST00000570371, ENST00000570499, ENST00000570623, ENST00000570965, ENST00000570977, ENST00000571319, ENST00000572158, ENST00000572298, ENST00000572360, ENST00000572405, ENST00000572576, ENST00000572905, ENST00000573607, ENST00000574318, ENST00000574653, ENST00000574744, ENST00000575333, ENST00000575882, ENST00000575909, ENST00000576932, ENST00000851787, ENST00000851788, ENST00000851789, ENST00000851790, ENST00000851791, ENST00000851792, ENST00000851793, ENST00000851794, ENST00000851795, ENST00000851796, ENST00000851797, ENST00000940214, ENST00000940215, ENST00000964386, ENST00000964387, ENST00000964388

RefSeq mRNA: 5 — MANE Select: NM_005486 NM_001321173, NM_001321174, NM_001321175, NM_001321176, NM_005486

CCDS: CCDS11582, CCDS82160, CCDS82161

Canonical transcript exons

ENST00000575882 — 16 exons

Exon	Start	End
ENSE00002648636	54900852	54900923
ENSE00003459198	54915746	54915862
ENSE00003478652	54914639	54914743
ENSE00003529083	54913748	54913873
ENSE00003540560	54947261	54947312
ENSE00003605113	54950045	54950126
ENSE00003614780	54912666	54912815
ENSE00003635145	54938924	54939020
ENSE00003645547	54903708	54903792
ENSE00003647032	54930073	54930206
ENSE00003650200	54937109	54937226
ENSE00003672083	54949518	54949623
ENSE00003672883	54960566	54960627
ENSE00003679226	54905489	54905567
ENSE00003725098	54961235	54961956
ENSE00003790145	54936649	54936709

Expression profiles

Bgee: expression breadth ubiquitous, 246 present calls, max score 97.78.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 20.4877 / max 377.3761, expressed in 1497 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
161761	18.3826	1482
161760	0.9909	641
161762	0.6668	319
161759	0.4475	280

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
jejunal mucosa	UBERON:0000399	97.78	gold quality
duodenum	UBERON:0002114	96.18	gold quality
islet of Langerhans	UBERON:0000006	95.56	gold quality
body of pancreas	UBERON:0001150	93.99	gold quality
rectum	UBERON:0001052	93.93	gold quality
nephron tubule	UBERON:0001231	93.33	gold quality
right lobe of liver	UBERON:0001114	93.25	gold quality
corpus epididymis	UBERON:0004359	93.19	gold quality
pancreas	UBERON:0001264	93.03	gold quality
liver	UBERON:0002107	93.00	gold quality
adult mammalian kidney	UBERON:0000082	92.91	gold quality
body of stomach	UBERON:0001161	92.64	gold quality
minor salivary gland	UBERON:0001830	92.22	gold quality
right uterine tube	UBERON:0001302	91.84	gold quality
stomach	UBERON:0000945	91.79	gold quality
left lobe of thyroid gland	UBERON:0001120	91.71	gold quality
cortex of kidney	UBERON:0001225	91.70	gold quality
metanephros cortex	UBERON:0010533	91.61	gold quality
kidney	UBERON:0002113	91.57	gold quality
mucosa of sigmoid colon	UBERON:0004993	91.23	gold quality
thyroid gland	UBERON:0002046	91.18	gold quality
right lobe of thyroid gland	UBERON:0001119	91.14	gold quality
colonic mucosa	UBERON:0000317	90.95	gold quality
saliva-secreting gland	UBERON:0001044	90.94	gold quality
bronchial epithelial cell	CL:0002328	90.55	gold quality
descending thoracic aorta	UBERON:0002345	90.50	gold quality
mouth mucosa	UBERON:0003729	90.38	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	90.38	gold quality
gall bladder	UBERON:0002110	89.97	gold quality
popliteal artery	UBERON:0002250	89.84	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	9.73

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

56 targeting TOM1L1, 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-4262	100.00	73.26	3931
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-3119	99.92	71.34	2390
HSA-MIR-5680	99.91	69.83	3421
HSA-MIR-454-3P	99.91	74.01	1925
HSA-MIR-4493	99.90	66.48	977
HSA-MIR-130A-3P	99.90	73.31	1861
HSA-MIR-130B-3P	99.90	73.27	1850
HSA-MIR-301A-3P	99.90	73.15	1839
HSA-MIR-301B-3P	99.90	73.19	1836
HSA-MIR-3666	99.90	73.24	1833
HSA-MIR-4295	99.90	73.11	1838
HSA-MIR-124-3P	99.89	73.74	3043
HSA-MIR-506-3P	99.89	73.55	3057
HSA-MIR-8062	99.88	68.43	995
HSA-MIR-4799-5P	99.82	70.60	2663
HSA-MIR-3121-3P	99.82	71.96	3630
HSA-MIR-6875-3P	99.82	70.26	2983
HSA-MIR-4659A-3P	99.80	72.62	4248
HSA-MIR-4659B-3P	99.80	72.62	4248
HSA-MIR-545-5P	99.66	70.18	2308

Literature-anchored findings (GeneRIF, showing 10)

• Srcasm plays a role in linking EGF receptor- and SFK-dependent signaling to differentiation in keratinocytes (PMID:15579470)
• Tom1L1 could act as an intermediary between signaling and degradative pathways. (PMID:15611048)
• study found that not only the PTAP sequence in the GAT domain but also the PSAP sequence in the C-terminal region of Tom1L1 is responsible for its interaction with the UEV domain of Tsg101 and competes with the HIV-1 Gag protein for the Tsg101 interaction (PMID:18367816)
• All multicentric and nodular basal cell carcinomas displayed a prominent loss of Srcasm staining in association with a marked increase in Ki-67 staining. (PMID:19220627)
• Participation of Tom1L1 in EGF-stimulated endocytosis of EGF receptor. (PMID:19798056)
• results imply that TOM1L has a mitogenic effect in Jurkat T-cells and is involved in a novel cell signaling pathway that is crucial for the IL-2 production and STAT3 expression (PMID:20182632)
• This pattern of Srcasm expression suggests that it may act as a negative regulator in esophageal squamous cell carcinoma cell signaling (PMID:20944134)
• whereas TOM1L1 depletion only slightly affected SRC-induced proliferation of colorectal cancer cells in vitro, it drastically decreased tumor growth in xenografted nude mice. (PMID:23023324)
• TOM1L1 enhances ERBB2-induced cell invasiveness by promoting invadopodia formation and MT1-MMP trafficking to the plasma membrane. (PMID:26899482)
• Fyn and TOM1L1 are recruited to clathrin-coated pits and regulate Akt signaling. (PMID:35238864)

Cross-species orthologs

9 orthologs

Organism	Symbol	Gene ID
mus_musculus	Tom1l1	ENSMUSG00000020541
rattus_norvegicus	Tom1l1	ENSRNOG00000002474
drosophila_melanogaster	Stam	FBGN0027363
drosophila_melanogaster	Gga	FBGN0030141
drosophila_melanogaster	Wdfy2	FBGN0032246
drosophila_melanogaster	CG3529	FBGN0035995
caenorhabditis_elegans	stam-1	WBGENE00004109
caenorhabditis_elegans		WBGENE00008402
caenorhabditis_elegans		WBGENE00015561

Paralogs (10): WDFY1 (ENSG00000085449), GGA1 (ENSG00000100083), TOM1 (ENSG00000100284), GGA2 (ENSG00000103365), STAM2 (ENSG00000115145), GGA3 (ENSG00000125447), STAM (ENSG00000136738), WDFY2 (ENSG00000139668), TOM1L2 (ENSG00000175662), HGS (ENSG00000185359)

Protein

Protein identifiers

TOM1-like protein 1 — O75674 (reviewed: O75674)

Alternative names: Src-activating and signaling molecule protein, Target of Myb-like protein 1

All UniProt accessions (14): O75674, I3L0N2, I3L1G1, I3L1Q1, I3L1T2, I3L367, I3L3M3, I3L3T4, I3L4G0, I3L4I4, I3L4N3, I3NI44, J3KQU4, K7EP47

UniProt curated annotations — full annotation on UniProt →

Function. Probable adapter protein involved in signaling pathways. Interacts with the SH2 and SH3 domains of various signaling proteins when it is phosphorylated. May promote FYN activation, possibly by disrupting intramolecular SH3-dependent interactions.

Subunit / interactions. Interacts with FYN, GRB2 and PIK3R1 when phosphorylated. Interacts with LYN.

Subcellular location. Golgi apparatus. Golgi stack. Endosome membrane. Cytoplasm. Membrane.

Post-translational modifications. Phosphorylated on tyrosines by FYN and LYN.

Similarity. Belongs to the TOM1 family.

Isoforms (3)

UniProt ID	Names	Canonical?
O75674-1	1	yes
O75674-2	2
O75674-3	3

RefSeq proteins (5): NP_001308102, NP_001308103, NP_001308104, NP_001308105, NP_005477* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002014	VHS_dom	Domain
IPR004152	GAT_dom	Domain
IPR008942	ENTH_VHS	Homologous_superfamily
IPR014645	TOM1	Family
IPR027428	TOM1L1_GAT_dom	Domain
IPR038425	GAT_sf	Homologous_superfamily
IPR047013	TOM1L1_VHS_dom	Domain

Pfam: PF00790, PF03127

UniProt features (34 total): helix 11, modified residue 5, region of interest 4, splice variant 3, domain 2, compositionally biased region 2, short sequence motif 2, chain 1, sequence variant 1, sequence conflict 1, turn 1, strand 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
3RRU	X-RAY DIFFRACTION	3

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O75674-F1	68.32	0.40

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 (5): 171, 314, 321, 323, 460

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 197 (showing top): GOBP_REGULATION_OF_PHOSPHORYLATION, GOBP_REGULATION_OF_NUCLEAR_DIVISION, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_REGULATION_OF_TRANSFERASE_ACTIVITY, GGGTGGRR_PAX4_03, SREBP1_02, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION, GOMF_KINASE_ACTIVATOR_ACTIVITY, GTGCCTT_MIR506, GOBP_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY, GERY_CEBP_TARGETS, GOBP_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION, GOBP_ORGANELLE_FISSION

GO Biological Process (6): signal transduction (GO:0007165), protein transport (GO:0015031), positive regulation of protein autophosphorylation (GO:0031954), activation of protein kinase activity (GO:0032147), ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162), negative regulation of mitotic nuclear division (GO:0045839)

GO Molecular Function (7): SH3 domain binding (GO:0017124), protein kinase binding (GO:0019901), clathrin binding (GO:0030276), protein kinase activator activity (GO:0030295), phosphatidylinositol binding (GO:0035091), ubiquitin binding (GO:0043130), protein binding (GO:0005515)

GO Cellular Component (9): cytoplasm (GO:0005737), lysosome (GO:0005764), endosome (GO:0005768), Golgi stack (GO:0005795), cytosol (GO:0005829), endosome membrane (GO:0010008), membrane (GO:0016020), extracellular exosome (GO:0070062), Golgi apparatus (GO:0005794)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
positive regulation of protein kinase activity	2
endomembrane system	2
cytoplasm	2
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
transport	1
intracellular protein localization	1
establishment of protein localization	1
positive regulation of protein phosphorylation	1
regulation of protein autophosphorylation	1
protein autophosphorylation	1
ubiquitin-dependent protein catabolic process	1
protein catabolic process in the vacuole	1
multivesicular body sorting pathway	1
regulation of mitotic nuclear division	1
negative regulation of cell cycle process	1
negative regulation of mitotic cell cycle	1
negative regulation of nuclear division	1
mitotic nuclear division	1
protein domain specific binding	1
kinase binding	1
protein binding	1
protein kinase activity	1
kinase activator activity	1
protein kinase regulator activity	1
anion binding	1
ubiquitin-like protein binding	1
binding	1
intracellular anatomical structure	1
lytic vacuole	1
cytoplasmic vesicle	1
Golgi apparatus subcompartment	1
endosome	1
cytoplasmic vesicle membrane	1
bounding membrane of organelle	1
extracellular vesicle	1

Protein interactions and networks

STRING

902 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TOM1L1	ZFYVE16	Q7Z3T8	876
TOM1L1	TSG101	Q99816	780
TOM1L1	CLTCL1	P53675	731
TOM1L1	CLTC	Q00610	730
TOM1L1	EEA1	Q15075	634
TOM1L1	EDARADD	Q8WWZ3	572
TOM1L1	STXBP4	Q6ZWJ1	565
TOM1L1	VPS28	Q9UK41	519
TOM1L1	GRB2	P29354	496
TOM1L1	VWA3B	Q502W6	478
TOM1L1	COX11	Q9Y6N1	471
TOM1L1	CWH43	Q9H720	462
TOM1L1	VPS37C	A5D8V6	462
TOM1L1	NPTX2	P47972	454
TOM1L1	CAPN9	O14815	444

IntAct

82 interactions, top by confidence:

A	B	Type	Score
TOLLIP	TOM1	psi-mi:“MI:0914”(association)	0.890
TOLLIP	TOM1L1	psi-mi:“MI:0915”(physical association)	0.800
TOLLIP	TOM1L1	psi-mi:“MI:0914”(association)	0.800
TSG101	TOM1L1	psi-mi:“MI:0407”(direct interaction)	0.590
TSG101	TOM1L1	psi-mi:“MI:0915”(physical association)	0.590
EGFR	TOM1L1	psi-mi:“MI:0403”(colocalization)	0.560
TOM1L1	EGFR	psi-mi:“MI:0915”(physical association)	0.560
EGFR	TOM1L1	psi-mi:“MI:0915”(physical association)	0.560
TOM1L1	CLTC	psi-mi:“MI:0915”(physical association)	0.540
TOM1L1	CLTC	psi-mi:“MI:0407”(direct interaction)	0.540
MANSC1	KLRG2	psi-mi:“MI:0914”(association)	0.530
CUEDC1	TOM1	psi-mi:“MI:0914”(association)	0.530
TOM1L1	GRB2	psi-mi:“MI:0915”(physical association)	0.520
VAV2	TOM1L1	psi-mi:“MI:0915”(physical association)	0.510
TOLLIP	IRAK2	psi-mi:“MI:0914”(association)	0.500
TOM1L1	UBB	psi-mi:“MI:0407”(direct interaction)	0.440
TOM1L1	HNRNPU	psi-mi:“MI:0915”(physical association)	0.400
NIPA1	TOM1L1	psi-mi:“MI:0915”(physical association)	0.400
TOM1L1	TOM1	psi-mi:“MI:0915”(physical association)	0.400
TOM1	TOM1L1	psi-mi:“MI:0915”(physical association)	0.400
	TOM1L1	psi-mi:“MI:0915”(physical association)	0.370

BioGRID (127): TOM1L1 (Reconstituted Complex), TOLLIP (Reconstituted Complex), TOM1L1 (Synthetic Growth Defect), TOM1L1 (Affinity Capture-Western), TOLLIP (Affinity Capture-Western), TOM1L1 (Affinity Capture-MS), TOM1L1 (Affinity Capture-MS), TOM1L1 (Affinity Capture-MS), TOM1L1 (Affinity Capture-MS), TOM1L1 (Affinity Capture-MS), TOM1L1 (Affinity Capture-RNA), TOM1L1 (Synthetic Lethality), TOM1L1 (Two-hybrid), TOM1L1 (Two-hybrid), TOM1L1 (Two-hybrid)

ESM2 similar proteins: A0A0G2JV04, B0V207, D3Z8X7, D3ZFJ3, D3ZND0, F1LM81, G9CGD6, O00499, O08539, O08839, O12940, O60308, O60784, O75674, O88746, P42567, P55194, Q05DH4, Q0GNC1, Q0IHV1, Q27J81, Q3B7M3, Q3UN70, Q4KLN4, Q505K2, Q5FVK6, Q5T0F9, Q5U3K5, Q66HA5, Q68EF0, Q6P1N0, Q6P5E6, Q6P9Q4, Q6P9Q6, Q80V31, Q80V94, Q8BMI3, Q8BRN9, Q8K1A6, Q8R0H9

Diamond homologs: A0A0D1E015, A0JMD2, A1CEK1, A1DFN5, A1DFP5, A2QWA2, A3LX75, A4QTV1, A8QCE4, A8XJZ8, B0WAQ0, B3MT31, B3P851, B4G2G5, B4IC49, B4JHI7, B4K982, B4M140, B4NFJ7, B4PRU6, D3ZVP7, F1LM81, O12940, O13821, O14964, O60784, O74749, O75674, O75886, O76902, O80910, O88746, O88811, O93436, P0CR78, P0CR79, P0CS26, P0CS27, P38817, P40343

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
FYN	“up-regulates activity”	TOM1L1	phosphorylation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 70 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
Cargo recognition for clathrin-mediated endocytosis	7	15.6×	2e-04
Clathrin-mediated endocytosis	6	10.9×	2e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	66
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

3110 predictions. Top by Δscore:

Variant	Effect	Δscore
17:54900921:TAGGT:T	donor_loss	1.0000
17:54900922:AGGT:A	donor_loss	1.0000
17:54900923:GGTAA:G	donor_loss	1.0000
17:54900924:G:GG	donor_gain	1.0000
17:54900924:GT:G	donor_loss	1.0000
17:54900925:T:G	donor_loss	1.0000
17:54912664:A:AG	acceptor_gain	1.0000
17:54912665:G:GG	acceptor_gain	1.0000
17:54913734:T:G	acceptor_gain	1.0000
17:54913739:T:A	acceptor_gain	1.0000
17:54913743:TTCAG:T	acceptor_loss	1.0000
17:54913745:CAG:C	acceptor_loss	1.0000
17:54913746:A:AG	acceptor_gain	1.0000
17:54913746:A:T	acceptor_loss	1.0000
17:54913747:G:GC	acceptor_gain	1.0000
17:54913747:GA:G	acceptor_gain	1.0000
17:54913747:GAC:G	acceptor_gain	1.0000
17:54913747:GACT:G	acceptor_gain	1.0000
17:54913747:GACTT:G	acceptor_gain	1.0000
17:54913871:GAG:G	donor_gain	1.0000
17:54913875:T:A	donor_loss	1.0000
17:54915742:ACAG:A	acceptor_loss	1.0000
17:54915743:CAGAT:C	acceptor_loss	1.0000
17:54915744:A:AG	acceptor_gain	1.0000
17:54915744:AGATT:A	acceptor_gain	1.0000
17:54915745:G:GC	acceptor_gain	1.0000
17:54915745:G:GT	acceptor_loss	1.0000
17:54915745:GATT:G	acceptor_gain	1.0000
17:54915745:GATTG:G	acceptor_gain	1.0000
17:54915880:GGAC:G	donor_gain	1.0000

AlphaMissense

3168 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:54930158:T:C	L269P	0.999
17:54930119:T:C	L256P	0.998
17:54912678:T:C	C79R	0.997
17:54913751:T:A	W126R	0.997
17:54913751:T:C	W126R	0.997
17:54913812:T:C	L146P	0.997
17:54905499:G:C	A52P	0.996
17:54912667:T:C	L75P	0.996
17:54915756:T:C	L205P	0.996
17:54905500:C:A	A52E	0.995
17:54900912:G:A	G16D	0.994
17:54900911:G:C	G16R	0.993
17:54903717:C:A	T23K	0.993
17:54913833:T:C	F153S	0.993
17:54930077:T:C	L242P	0.993
17:54930158:T:A	L269Q	0.993
17:54912680:T:G	C79W	0.992
17:54912703:T:C	F87S	0.992
17:54913791:T:A	V139D	0.992
17:54930158:T:G	L269R	0.992
17:54912692:T:G	C83W	0.991
17:54903774:T:A	I42N	0.990
17:54905509:C:A	A55D	0.990
17:54903717:C:G	T23R	0.989
17:54905522:G:C	R59S	0.989
17:54905522:G:T	R59S	0.989
17:54913832:T:C	F153L	0.989
17:54913834:T:A	F153L	0.989
17:54913834:T:G	F153L	0.989
17:54903766:T:G	C39W	0.988

dbSNP variants (sampled 300 via entrez): RS1000052097 (17:54907858 A>G,T), RS1000238252 (17:54933552 C>T), RS1000276328 (17:54947499 G>A,T), RS1000279024 (17:54946239 CA>C), RS1000282692 (17:54932484 C>T), RS1000399194 (17:54907342 CA>C), RS1000460986 (17:54900358 G>C), RS1000712574 (17:54946520 C>T), RS1000736848 (17:54950892 C>T), RS1000800322 (17:54928779 A>G), RS1000807513 (17:54915230 A>G), RS1000861730 (17:54959605 C>T), RS1000932595 (17:54911956 T>C), RS1000978705 (17:54926147 AG>A), RS1001009955 (17:54926499 C>CT)

Disease associations

OMIM: gene MIM:604701 | 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
GCST001762_869	Obesity-related traits	3.000000e-06
GCST003992_21	Photic sneeze reflex	2.000000e-08
GCST009391_2114	Metabolite levels	5.000000e-06
GCST010151_28	Carotid intima media thickness x smoking interaction	4.000000e-06
GCST010736_11	Urinary albumin-to-creatinine ratio	2.000000e-07
GCST012051_7	Systolic blood pressure	4.000000e-07

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0005116	urinary metabolite measurement
EFO:0007887	autosomal dominant compelling helio-ophthalmic outburst syndrome
EFO:0010381	phosphatidylcholine 36:3 measurement
EFO:0006527	smoking status measurement
EFO:0007778	urinary albumin to creatinine ratio
EFO:0006335	systolic blood pressure

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases expression, decreases expression, affects cotreatment, increases abundance	4
Valproic Acid	decreases expression, affects cotreatment	3
methylmercuric chloride	decreases expression	2
Tobacco Smoke Pollution	affects expression, increases expression	2
aristolochic acid I	decreases expression	1
FR900359	decreases phosphorylation	1
dicrotophos	decreases expression	1
trichostatin A	increases expression	1
manganese chloride	affects cotreatment, increases abundance, increases expression	1
coumarin	increases phosphorylation	1
methacrylaldehyde	affects cotreatment, decreases expression	1
3-nitrobenzanthrone	decreases expression	1
K 7174	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
Vorinostat	increases expression	1
Acrolein	decreases expression, affects cotreatment	1
Air Pollutants	increases abundance, decreases expression	1
Amiodarone	increases expression	1
Arsenic	increases abundance, increases expression, affects cotreatment	1
Benzo(a)pyrene	decreases methylation	1
Doxorubicin	decreases expression	1
Ivermectin	decreases expression	1
Manganese	increases expression, affects cotreatment, increases abundance	1
Ozone	affects cotreatment, decreases expression	1
Rotenone	decreases expression	1
Silicon Dioxide	decreases expression	1
Smoke	decreases expression	1
Tretinoin	decreases expression	1
Cyclosporine	increases expression	1

Clinical trials (associated diseases)

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