TMEM59

Summary

TMEM59 (transmembrane protein 59, HGNC:1239) is a protein-coding gene on chromosome 1p32.3, encoding Transmembrane protein 59 (Q9BXS4). Acts as a regulator of autophagy in response to S.aureus infection by promoting activation of LC3 (MAP1LC3A, MAP1LC3B or MAP1LC3C).

This gene encodes a protein shown to regulate autophagy in response to bacterial infection. This protein may also regulate the retention of amyloid precursor protein (APP) in the Golgi apparatus through its control of APP glycosylation. Overexpression of this protein has been found to promote apoptosis in a glioma cell line. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 9528 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 35 total
• MANE Select transcript: NM_004872

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:1239
Approved symbol	TMEM59
Name	transmembrane protein 59
Location	1p32.3
Locus type	gene with protein product
Status	Approved
Aliases	HSPC001
Ensembl gene	ENSG00000116209
Ensembl biotype	protein_coding
OMIM	617084
Entrez	9528

Gene structure

Transcript identifiers

Ensembl transcripts: 21 — 20 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000234831, ENST00000371337, ENST00000371341, ENST00000371344, ENST00000371348, ENST00000420738, ENST00000440019, ENST00000452421, ENST00000470395, ENST00000864578, ENST00000864579, ENST00000864580, ENST00000864581, ENST00000864582, ENST00000864583, ENST00000864584, ENST00000864585, ENST00000864586, ENST00000864587, ENST00000864588, ENST00000932973

RefSeq mRNA: 7 — MANE Select: NM_004872 NM_001305043, NM_001305049, NM_001305050, NM_001305051, NM_001305052, NM_001305066, NM_004872

CCDS: CCDS586, CCDS81329, CCDS81330

Canonical transcript exons

ENST00000234831 — 8 exons

Exon	Start	End
ENSE00000772714	54041724	54041805
ENSE00000772715	54040756	54040837
ENSE00000957694	54053000	54053204
ENSE00002686100	54036610	54036718
ENSE00003499043	54047267	54047372
ENSE00003508069	54045692	54045786
ENSE00003628195	54043373	54043525
ENSE00003695135	54026681	54032305

Expression profiles

Bgee: expression breadth ubiquitous, 299 present calls, max score 99.59.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 95.8105 / max 518.6021, expressed in 1826 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
12448	63.1415	1821
12450	30.9294	1813
12449	0.7530	396
12447	0.7275	430
12451	0.2590	95

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
olfactory segment of nasal mucosa	UBERON:0005386	99.59	gold quality
bronchial epithelial cell	CL:0002328	99.57	gold quality
parotid gland	UBERON:0001831	99.57	gold quality
right uterine tube	UBERON:0001302	99.55	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	99.52	gold quality
rectum	UBERON:0001052	99.49	gold quality
epithelium of bronchus	UBERON:0002031	99.47	gold quality
bronchus	UBERON:0002185	99.44	gold quality
corpus epididymis	UBERON:0004359	99.43	gold quality
stromal cell of endometrium	CL:0002255	99.42	gold quality
gall bladder	UBERON:0002110	99.41	gold quality
saliva-secreting gland	UBERON:0001044	99.40	gold quality
mucosa of sigmoid colon	UBERON:0004993	99.39	gold quality
right adrenal gland	UBERON:0001233	99.38	gold quality
right lung	UBERON:0002167	99.38	gold quality
minor salivary gland	UBERON:0001830	99.37	gold quality
right adrenal gland cortex	UBERON:0035827	99.37	gold quality
left lobe of thyroid gland	UBERON:0001120	99.35	gold quality
left adrenal gland	UBERON:0001234	99.35	gold quality
mucosa of transverse colon	UBERON:0004991	99.35	gold quality
colonic mucosa	UBERON:0000317	99.34	gold quality
right lobe of thyroid gland	UBERON:0001119	99.34	gold quality
descending thoracic aorta	UBERON:0002345	99.34	gold quality
body of pancreas	UBERON:0001150	99.33	gold quality
metanephros cortex	UBERON:0010533	99.33	gold quality
endocervix	UBERON:0000458	99.32	gold quality
left adrenal gland cortex	UBERON:0035825	99.32	gold quality
transverse colon	UBERON:0001157	99.31	gold quality
body of stomach	UBERON:0001161	99.29	gold quality
thyroid gland	UBERON:0002046	99.29	gold quality

Single-cell (SCXA)

Detected in 12 experiment(s), a significant marker in 7.

Experiment	Marker?	Max mean expression
E-MTAB-8205	yes	405.92
E-HCAD-4	yes	38.58
E-CURD-46	yes	20.24
E-HCAD-1	yes	18.84
E-MTAB-8142	yes	15.96
E-HCAD-9	yes	8.79
E-CURD-97	no	1066.02
E-MTAB-7052	no	319.10
E-MTAB-10287	no	17.94
E-GEOD-125970	no	14.00
E-MTAB-9388	no	10.77
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

231 targeting TMEM59, 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-3646	100.00	73.56	5283
HSA-MIR-3689D	100.00	66.14	1181
HSA-MIR-6851-5P	100.00	65.63	1294
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-29A-3P	100.00	73.11	1835
HSA-MIR-29B-3P	100.00	73.18	1833
HSA-MIR-29C-3P	100.00	73.15	1833
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-513A-5P	100.00	69.77	2465
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-8075	99.97	67.20	962
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-590-3P	99.96	74.34	6478

Literature-anchored findings (GeneRIF, showing 9)

• TMEM59 affects amyloid precursor protein shedding by reducing its acccess to cellular components. (PMID:20427278)
• The TMEM59 gene identified from our discovery approach was recently implicated in amyloid-beta protein precursor post-translational processing, supporting a role for epigenetic change in LOAD pathology. (PMID:22451312)
• DCF1 subcellular localization and its function in mitochondria (PMID:29074393)
• identify the single-span membrane protein TMEM59 as an interactor of FZD and LRP6 and a positive regulator of Wnt signaling. Mechanistically, TMEM59 promotes the formation of multimeric Wnt-FZD assemblies via intramembrane interactions. (PMID:29632210)
• Results provide evidence that DCF1 plays an important role in controlling neuroblastoma (NB) tumor viability, promoting cell apoptosis, and inhibiting tumorigenesis in vivo. DCF1 could be a potential new inhibitor for components of the ERK1/2 signaling pathway and helped understand the molecular mechanism of NB. (PMID:30365123)
• Dcf1 alleviates C99-mediated deficits in drosophila by reducing the cleavage of C99. (PMID:32540098)
• The Chlamydia effector CT622/TaiP targets a nonautophagy related function of ATG16L1. (PMID:33055216)
• Dcf1 induces glioblastoma cells apoptosis by blocking autophagy. (PMID:34799992)
• CircTMEM59 Serves as miR-410-3p Sponge to Inhibit the Proliferation and Metastasis of Colorectal Cancer by Regulating HOXD8. (PMID:35426617)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	tmem59	ENSDARG00000019033
mus_musculus	Tmem59	ENSMUSG00000028618
rattus_norvegicus	Tmem59	ENSRNOG00000009778

Paralogs (1): TMEM59L (ENSG00000105696)

Protein

Protein identifiers

Transmembrane protein 59 — Q9BXS4 (reviewed: Q9BXS4)

Alternative names: Liver membrane-bound protein

All UniProt accessions (5): Q9BXS4, Q5T6Z8, Q5T703, Q5T704, Q5T706

UniProt curated annotations — full annotation on UniProt →

Function. Acts as a regulator of autophagy in response to S.aureus infection by promoting activation of LC3 (MAP1LC3A, MAP1LC3B or MAP1LC3C). Acts by interacting with ATG16L1, leading to promote a functional complex between LC3 and ATG16L1 and promoting LC3 lipidation and subsequent activation of autophagy. Modulates the O-glycosylation and complex N-glycosylation steps occurring during the Golgi maturation of several proteins such as APP, BACE1, SEAP or PRNP. Inhibits APP transport to the cell surface and further shedding.

Subunit / interactions. Interacts with ATG16L1 (via WD repeats).

Subcellular location. Late endosome membrane. Lysosome membrane. Cell membrane. Golgi apparatus membrane.

Post-translational modifications. N-glycosylated.

Domain organisation. The ATG16L1-binding motif mediates interaction with ATG16L1 and promotes autophagy.

Similarity. Belongs to the TMEM59 family.

RefSeq proteins (7): NP_001291972, NP_001291978, NP_001291979, NP_001291980, NP_001291981, NP_001291995, NP_004863* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR022065	Uncharacterised_TMEM59	Family

Pfam: PF12280

UniProt features (19 total): mutagenesis site 9, topological domain 2, signal peptide 1, chain 1, sequence conflict 1, transmembrane region 1, short sequence motif 1, modified residue 1, glycosylation site 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BXS4-F1	66.53	0.17

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): 303

Glycosylation sites (1): 90

Mutagenesis-validated functional residues (9):

Position	Phenotype
268	does not affect ability to activate lc3.
269	no effect on interaction with atg16l1.
272	does not affect ability to activate lc3. no effect on interaction with atg16l1.
273	no effect on interaction with atg16l1.
277	impaired ability to activate lc3. impaired interaction with atg16l1.
277	does not affect ability to activate lc3.
278	no effect on interaction with atg16l1.
280	impaired ability to activate lc3. impaired interaction with atg16l1.
268	impaired ability to activate lc3. impaired interaction with atg16l1.

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-9013407	RHOH GTPase cycle
R-HSA-9696273	RND1 GTPase cycle

MSigDB gene sets: 240 (showing top): GOBP_REGULATION_OF_AUTOPHAGY, GOCC_VACUOLAR_MEMBRANE, MODULE_151, SARRIO_EPITHELIAL_MESENCHYMAL_TRANSITION_DN, GOBP_PROTEIN_LOCALIZATION_TO_CELL_PERIPHERY, GOBP_NEGATIVE_REGULATION_OF_PROTEIN_LOCALIZATION, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, MISSIAGLIA_REGULATED_BY_METHYLATION_UP, GOBP_REGULATION_OF_CATABOLIC_PROCESS, GOBP_POSITIVE_REGULATION_OF_CATABOLIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, GOBP_REGULATION_OF_CELLULAR_LOCALIZATION, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_5, BASSO_HAIRY_CELL_LEUKEMIA_UP, SCHLOSSER_SERUM_RESPONSE_DN

GO Biological Process (5): autophagy (GO:0006914), glycoprotein biosynthetic process (GO:0009101), positive regulation of autophagy (GO:0010508), negative regulation of protein localization to plasma membrane (GO:1903077), obsolete protein glycosylation (GO:0006486)

GO Molecular Function (2): endopeptidase activity (GO:0004175), protein binding (GO:0005515)

GO Cellular Component (13): Golgi cis cisterna (GO:0000137), Golgi trans cisterna (GO:0000138), Golgi membrane (GO:0000139), lysosome (GO:0005764), lysosomal membrane (GO:0005765), late endosome (GO:0005770), Golgi medial cisterna (GO:0005797), plasma membrane (GO:0005886), late endosome membrane (GO:0031902), extracellular exosome (GO:0070062), endosome (GO:0005768), Golgi apparatus (GO:0005794), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
RHO GTPase cycle	2

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
Golgi cisterna	3
endomembrane system	2
catabolic process	1
transmembrane transport	1
process utilizing autophagic mechanism	1
macromolecule biosynthetic process	1
glycoprotein metabolic process	1
carbohydrate derivative biosynthetic process	1
autophagy	1
positive regulation of catabolic process	1
regulation of autophagy	1
protein localization to plasma membrane	1
regulation of protein localization to plasma membrane	1
negative regulation of protein localization to cell periphery	1
negative regulation of protein localization to membrane	1
peptidase activity	1
binding	1
Golgi apparatus	1
bounding membrane of organelle	1
lytic vacuole	1
lysosome	1
lytic vacuole membrane	1
endosome	1
membrane	1
cell periphery	1
late endosome	1
endosome membrane	1
extracellular vesicle	1
cytoplasmic vesicle	1
cytoplasm	1
intracellular membrane-bounded organelle	1
cellular anatomical structure	1

Protein interactions and networks

STRING

3710 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TMEM59	ATG16L1	Q676U5	764
TMEM59	WIPI2	Q9Y4P8	522
TMEM59	ADGRA2	Q96PE1	504
TMEM59	NOD1	Q9Y239	499
TMEM59	EVA1A	Q9H8M9	467
TMEM59	NOD2	Q9HC29	462
TMEM59	FYCO1	Q9BQS8	447
TMEM59	ATG101	Q9BSB4	438
TMEM59	MESD	Q14696	437
TMEM59	ATG12	O94817	432
TMEM59	PIK3C3	Q8NEB9	415
TMEM59	STX17	P56962	414
TMEM59	PIK3R4	Q99570	398
TMEM59	CA8	P35219	377
TMEM59	CA5B	Q9Y2D0	375

IntAct

117 interactions, top by confidence:

A	B	Type	Score
B3GAT3	GOLIM4	psi-mi:“MI:0914”(association)	0.640
POMK	LRP5	psi-mi:“MI:0914”(association)	0.640
DKKL1	DENND11	psi-mi:“MI:0914”(association)	0.640
ABCD4	ABCD4	psi-mi:“MI:0914”(association)	0.640
IL13RA2	CHEK1	psi-mi:“MI:0914”(association)	0.640
SLC39A5	FAM171A2	psi-mi:“MI:0914”(association)	0.640
FAM234B	ABCD4	psi-mi:“MI:0914”(association)	0.620
TMEM59	ATG16L1	psi-mi:“MI:0915”(physical association)	0.540
ATG16L1	TMEM59	psi-mi:“MI:0915”(physical association)	0.540
TMEM59	ATG16L1	psi-mi:“MI:0407”(direct interaction)	0.540
IL20RB	B4GALT5	psi-mi:“MI:0914”(association)	0.530
ADGRG5	KLRG2	psi-mi:“MI:0914”(association)	0.530
CRP	QSOX1	psi-mi:“MI:0914”(association)	0.530
FUT1	NDUFS4	psi-mi:“MI:0914”(association)	0.530
TMEM43	ENDOD1	psi-mi:“MI:0914”(association)	0.530
ABHD14A	TMEM259	psi-mi:“MI:0914”(association)	0.530
CTLA4	B4GALT5	psi-mi:“MI:0914”(association)	0.530
PCDHA3	CYP51A1	psi-mi:“MI:0914”(association)	0.530
POMK	CLGN	psi-mi:“MI:0914”(association)	0.530
TMEM59	B4GALT5	psi-mi:“MI:0914”(association)	0.530
TPST1	TPST2	psi-mi:“MI:0914”(association)	0.530
ANKH	FAM234B	psi-mi:“MI:0914”(association)	0.530
TSPAN12	ADAM10	psi-mi:“MI:0914”(association)	0.500
PARP2	TMEM59	psi-mi:“MI:0557”(adp ribosylation reaction)	0.440
TMEM59	AP1M1	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (235): TMEM59 (Affinity Capture-MS), TYW1 (Affinity Capture-MS), PDE3B (Affinity Capture-MS), TMEM59 (Affinity Capture-MS), TMEM59 (Affinity Capture-MS), TMEM59 (Affinity Capture-MS), TMEM59 (Two-hybrid), TMEM59 (Affinity Capture-MS), TMEM59 (Affinity Capture-MS), TMEM59 (Affinity Capture-MS), TMEM59 (Affinity Capture-MS), TMEM59 (Proximity Label-MS), TMEM59 (Affinity Capture-MS), TMEM59 (Affinity Capture-MS), ATG16L1 (Affinity Capture-Western)

ESM2 similar proteins: A2A699, A2ALI5, A2AWH2, A2BDP1, A4IFM1, A4IHZ3, A8MVW0, B0BN44, B1AL88, D3ZZP4, O35144, O35451, O75129, O75949, O94983, P0C7U0, P13265, P51693, P78333, Q03157, Q15554, Q1XFL1, Q2F7Z7, Q3T0Q2, Q3U4N7, Q4W8E7, Q5EGE1, Q5F267, Q5R800, Q5RA50, Q60943, Q61137, Q6H9L7, Q6P9J5, Q6UWH4, Q766D5, Q80Y50, Q80Z10, Q810F0, Q86V42

Diamond homologs: Q0VCT2, Q2F7Z7, Q3T0Q2, Q4R8C8, Q5HZE8, Q5R800, Q7TNI2, Q9BXS4, Q9QY73, Q9UK28

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 159 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
Glycosaminoglycan metabolism	6	12.7×	2e-03
Metabolism of carbohydrates and carbohydrate derivatives	8	9.2×	1e-03

GO biological processes:

GO term	Partners	Fold	FDR
transmembrane transport	9	11.1×	1e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	26
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1334 predictions. Top by Δscore:

Variant	Effect	Δscore
1:54032152:A:AC	donor_gain	1.0000
1:54032153:A:C	donor_gain	1.0000
1:54032175:A:AC	donor_gain	1.0000
1:54032176:C:CC	donor_gain	1.0000
1:54036624:A:AC	donor_gain	1.0000
1:54036625:C:CC	donor_gain	1.0000
1:54036714:AGTTA:A	acceptor_gain	1.0000
1:54036715:GTTA:G	acceptor_gain	1.0000
1:54036716:TTA:T	acceptor_gain	1.0000
1:54036716:TTACT:T	acceptor_loss	1.0000
1:54036717:TA:T	acceptor_gain	1.0000
1:54036717:TACT:T	acceptor_loss	1.0000
1:54036718:ACTGG:A	acceptor_loss	1.0000
1:54036719:C:CC	acceptor_gain	1.0000
1:54036719:C:T	acceptor_loss	1.0000
1:54036720:T:G	acceptor_loss	1.0000
1:54040754:A:AC	donor_gain	1.0000
1:54040755:C:CC	donor_gain	1.0000
1:54041722:A:AC	donor_gain	1.0000
1:54041723:C:CC	donor_gain	1.0000
1:54041723:CAGGA:C	donor_gain	1.0000
1:54041801:TTAGA:T	acceptor_gain	1.0000
1:54041802:TAGA:T	acceptor_gain	1.0000
1:54041804:GA:G	acceptor_gain	1.0000
1:54041806:C:CC	acceptor_gain	1.0000
1:54043329:A:AC	donor_gain	1.0000
1:54043330:C:CC	donor_gain	1.0000
1:54045690:A:AC	donor_gain	1.0000
1:54045691:C:CC	donor_gain	1.0000
1:54045783:CATG:C	acceptor_gain	1.0000

AlphaMissense

2104 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:54045743:G:C	C113W	0.999
1:54045744:C:T	C113Y	0.999
1:54045745:A:G	C113R	0.999
1:54045782:A:C	C100W	0.999
1:54045783:C:T	C100Y	0.999
1:54047274:A:C	C96W	0.999
1:54047276:A:G	C96R	0.999
1:54047344:C:T	G73D	0.999
1:54047345:C:G	G73R	0.999
1:54036663:A:G	W255R	0.998
1:54036663:A:T	W255R	0.998
1:54045732:C:G	C117S	0.998
1:54045733:A:G	C117R	0.998
1:54045733:A:T	C117S	0.998
1:54045735:C:T	G116D	0.998
1:54045736:C:G	G116R	0.998
1:54045744:C:G	C113S	0.998
1:54045745:A:T	C113S	0.998
1:54045783:C:G	C100S	0.998
1:54045784:A:G	C100R	0.998
1:54045784:A:T	C100S	0.998
1:54047275:C:A	C96F	0.998
1:54047275:C:G	C96S	0.998
1:54047275:C:T	C96Y	0.998
1:54047276:A:T	C96S	0.998
1:54047335:A:G	L76P	0.998
1:54047340:G:C	C74W	0.998
1:54047341:C:G	C74S	0.998
1:54047341:C:T	C74Y	0.998
1:54047342:A:G	C74R	0.998

dbSNP variants (sampled 300 via entrez): RS1000024454 (1:54046921 A>G), RS1000122576 (1:54032287 C>A), RS1000235823 (1:54051805 T>C), RS1000259021 (1:54045401 A>C,G), RS1000364078 (1:54045239 T>A,C), RS1000405568 (1:54038261 A>G,T), RS1000455349 (1:54052150 T>C), RS1000493559 (1:54052253 GA>G), RS1000574641 (1:54050288 A>G), RS1000694122 (1:54043657 T>C), RS1000723297 (1:54043292 T>C), RS1000797256 (1:54044942 T>C), RS1000824487 (1:54052435 T>C), RS1000903646 (1:54032963 T>C), RS1001012548 (1:54039875 TGGA>T)

Disease associations

OMIM: gene MIM:617084 | disease phenotypes: MIM:615363

GenCC curated gene-disease

Mondo (1): estrogen resistance syndrome (MONDO:0014148)

Orphanet (1): Estrogen resistance syndrome (Orphanet:785)

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST002778_2	Parkinson disease and lewy body pathology	6.000000e-08
GCST012353_10	Serum metabolite concentrations in chronic kidney disease	1.000000e-10

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases abundance, increases expression, decreases expression, affects cotreatment	3
cobaltous chloride	increases expression	2
Arsenic	decreases ubiquitination, affects cotreatment, increases abundance, increases expression, decreases expression	2
Valproic Acid	affects expression, decreases methylation	2
bisphenol F	affects cotreatment, increases expression	1
dicrotophos	decreases expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, increases oxidation, increases abundance	1
bisphenol A	affects cotreatment, increases expression	1
trichostatin A	increases expression	1
zinc chromate	increases abundance, increases expression	1
methacrylaldehyde	affects cotreatment, increases oxidation, increases abundance	1
chromium hexavalent ion	increases abundance, increases expression	1
CGP 52608	affects binding, increases reaction	1
K 7174	increases expression	1
ICG 001	increases expression	1
Acetaminophen	increases expression	1
Acrolein	affects cotreatment, increases oxidation, increases abundance	1
Air Pollutants	affects cotreatment, increases abundance, increases oxidation	1
Vehicle Emissions	affects expression, increases abundance	1
Cisplatin	increases expression	1
Dexamethasone	affects cotreatment, increases expression	1
Doxorubicin	increases expression	1
Ethyl Methanesulfonate	increases expression	1
Formaldehyde	increases expression	1
Indomethacin	affects cotreatment, increases expression	1
Methyl Methanesulfonate	increases expression	1
Ozone	affects cotreatment, increases oxidation, increases abundance	1
Tretinoin	increases expression	1
Xylitol	decreases 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_B3JP	Abcam HEK293T TMEM59 KO	Transformed cell line	Female

Clinical trials (associated diseases)

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