TMEM163

Summary

TMEM163 (transmembrane protein 163, HGNC:25380) is a protein-coding gene on chromosome 2q21.3, encoding Transmembrane protein 163 (Q8TC26). Zinc ion transporter that mediates zinc efflux and plays a crucial role in intracellular zinc homeostasis.

Predicted to enable zinc ion binding activity. Involved in myelination and zinc export across plasma membrane. Predicted to be located in early endosome membrane. Predicted to be active in plasma membrane and synaptic vesicle membrane. Implicated in hypomyelinating leukodystrophy 25.

Source: NCBI Gene 81615 — RefSeq curated summary.

At a glance

• Gene–disease (curated): leukodystrophy, hypomyelinating, 25 (Strong, GenCC) — +1 more curated relationship
• GWAS associations: 20
• Clinical variants (ClinVar): 60 total — 3 pathogenic
• Phenotypes (HPO): 20
• MANE Select transcript: NM_030923

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25380
Approved symbol	TMEM163
Name	transmembrane protein 163
Location	2q21.3
Locus type	gene with protein product
Status	Approved
Aliases	DKFZP566N034, SV31, SLC30A11
Ensembl gene	ENSG00000152128
Ensembl biotype	protein_coding
OMIM	618978
Entrez	81615

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 3 protein_coding, 2 retained_intron

ENST00000281924, ENST00000467316, ENST00000476823, ENST00000907725, ENST00000940195

RefSeq mRNA: 1 — MANE Select: NM_030923 NM_030923

CCDS: CCDS2172

Canonical transcript exons

ENST00000281924 — 8 exons

Exon	Start	End
ENSE00001132571	134550570	134550661
ENSE00001132585	134718734	134719000
ENSE00001136647	134466114	134466225
ENSE00001136653	134502901	134502997
ENSE00001136662	134552048	134552091
ENSE00001136669	134713200	134713319
ENSE00001946866	134455759	134456776
ENSE00003554213	134458032	134458173

Expression profiles

Bgee: expression breadth ubiquitous, 201 present calls, max score 97.63.

FANTOM5 (CAGE): breadth broad, TPM avg 2.1845 / max 85.6177, expressed in 457 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
30747	1.0569	269
30751	0.4635	217
30749	0.2497	132
30748	0.2329	131
30750	0.1815	95

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
oocyte	CL:0000023	97.63	gold quality
secondary oocyte	CL:0000655	96.95	gold quality
lateral nuclear group of thalamus	UBERON:0002736	96.81	gold quality
ventricular zone	UBERON:0003053	95.19	gold quality
cerebellar cortex	UBERON:0002129	93.04	gold quality
cerebellum	UBERON:0002037	93.02	gold quality
cerebellar hemisphere	UBERON:0002245	93.02	gold quality
Brodmann (1909) area 23	UBERON:0013554	92.87	gold quality
right hemisphere of cerebellum	UBERON:0014890	92.42	gold quality
epithelial cell of pancreas	CL:0000083	91.57	silver quality
cerebellar vermis	UBERON:0004720	91.45	gold quality
islet of Langerhans	UBERON:0000006	91.04	gold quality
cortical plate	UBERON:0005343	91.00	gold quality
middle temporal gyrus	UBERON:0002771	90.31	gold quality
body of pancreas	UBERON:0001150	89.88	gold quality
pancreas	UBERON:0001264	89.64	gold quality
pons	UBERON:0000988	89.07	gold quality
ganglionic eminence	UBERON:0004023	88.93	gold quality
embryo	UBERON:0000922	88.92	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	88.51	gold quality
spinal cord	UBERON:0002240	88.15	gold quality
primary visual cortex	UBERON:0002436	87.59	gold quality
endothelial cell	CL:0000115	87.15	gold quality
lower lobe of lung	UBERON:0008949	86.90	gold quality
hypothalamus	UBERON:0001898	86.63	gold quality
cartilage tissue	UBERON:0002418	86.36	gold quality
visceral pleura	UBERON:0002401	85.18	gold quality
prefrontal cortex	UBERON:0000451	85.06	gold quality
pituitary gland	UBERON:0000007	84.71	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	84.27	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	20.29
E-CURD-119	yes	19.18

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

53 targeting TMEM163, 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-5692A	100.00	74.40	6850
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-2110	99.96	66.68	1930
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-96-5P	99.95	72.80	2140
HSA-MIR-218-5P	99.93	72.22	2103
HSA-MIR-12133	99.92	71.82	2006
HSA-MIR-1271-5P	99.91	71.99	1972
HSA-MIR-3121-3P	99.82	71.96	3630
HSA-MIR-636	99.80	69.58	1500
HSA-MIR-448	99.79	72.37	2103
HSA-MIR-556-3P	99.74	68.75	1203
HSA-MIR-518A-5P	99.70	69.01	2209
HSA-MIR-527	99.70	69.01	2209
HSA-MIR-6848-3P	99.64	66.49	885
HSA-MIR-9851-3P	99.63	69.68	1110
HSA-MIR-548G-3P	99.48	68.67	2159
HSA-MIR-21-5P	99.46	70.54	1035
HSA-MIR-508-5P	99.41	64.25	1248
HSA-MIR-593-5P	99.34	69.50	965
HSA-MIR-6843-3P	99.26	66.42	915
HSA-MIR-590-5P	99.25	70.76	930
HSA-MIR-4727-5P	99.23	67.55	1154
HSA-MIR-10399-5P	99.17	69.87	2610
HSA-MIR-6504-3P	99.17	69.31	2891

Literature-anchored findings (GeneRIF, showing 10)

• Data suggest that SNP within TMEM163 (rs998451) and SNP near TMEM163 (rs6723108) are associated with type 2 diabetes and insulin resistance in subjects in India (versus Indo-Europeans and Dravidians). [META-ANALYSIS; Genome-Wide Association Studies] (PMID:23209189)
• TMEM163 is a putative zinc transporter, a novel interacting partner for TRPML1, essential for zinc homeostasis. (PMID:25130899)
• SNPs of TMEM-163 i.e. rs998451 and rs6723108 didnot show any significant association with T2D (PMID:28258026)
• rs7560738 associated with facial shape around eyes (PMID:29301965)
• TMEM163 is a member of the CDF family of zinc efflux transporters. (PMID:31697912)
• Role of Tmem163 in zinc-regulated insulin storage of MIN6 cells: Functional exploration of an Indian type 2 diabetes GWAS associated gene. (PMID:31813547)
• Mutation analysis of TMEM family members for early-onset Parkinson’s disease in Chinese population. (PMID:33279243)
• A zinc transporter, transmembrane protein 163, is critical for the biogenesis of platelet dense granules. (PMID:33513603)
• Functional Study of TMEM163 Gene Variants Associated with Hypomyelination Leukodystrophy. (PMID:35455965)
• Variants in the zinc transporter TMEM163 cause a hypomyelinating leukodystrophy. (PMID:35953447)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	tmem163a	ENSDARG00000079858
danio_rerio	tmem163b	ENSDARG00000088227
mus_musculus	Tmem163	ENSMUSG00000026347
rattus_norvegicus	Tmem163	ENSRNOG00000003769

Protein

Protein identifiers

Transmembrane protein 163 — Q8TC26 (reviewed: Q8TC26)

All UniProt accessions (1): Q8TC26

UniProt curated annotations — full annotation on UniProt →

Function. Zinc ion transporter that mediates zinc efflux and plays a crucial role in intracellular zinc homeostasis. Binds the divalent cations Zn(2+), Ni(2+), and to a minor extent Cu(2+). Is a functional modulator of P2X purinoceptors, including P2RX1, P2RX3, P2RX4 and P2RX7. Plays a role in central nervous system development and is required for myelination, and survival and proliferation of oligodendrocytes.

Subunit / interactions. Homodimer. Interacts with MCOLN1/TRPML1. Interacts with SLC30A1, SLC30A2, SLC30A3 and SLC30A4.

Subcellular location. Cytoplasmic vesicle. Secretory vesicle. Synaptic vesicle membrane. Early endosome membrane. Late endosome membrane. Lysosome membrane. Cell membrane.

Tissue specificity. Widely expressed. High expression is detected in brain, lung and testis.

Disease relevance. Leukodystrophy, hypomyelinating, 25 (HLD25) [MIM:620243] A form of hypomyelinating leukodystrophy, a group of heterogeneous disorders characterized by persistent deficit of myelin observed on brain imaging. HLD25 is an autosomal dominant form with onset in early infancy and characterized by nystagmus, hypotonia, and delayed global development. Most patients show gradual clinical improvement over time with resolution of the nystagmus in early childhood. Many achieve developmental milestones and may have normal cognition, although some affected individuals may have persistent neurologic deficits. Brain imaging shows hypomyelination that may also improve with time. The disease is caused by variants affecting the gene represented in this entry.

Miscellaneous. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. Dubious isoform that could be a cloning artifact.

Similarity. Belongs to the TMEM163 family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q8TC26-1	1	yes
Q8TC26-2	2
Q8TC26-3	3

RefSeq proteins (1): NP_112185* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR026765	Tmem163	Family
IPR027469	Cation_efflux_TMD_sf	Homologous_superfamily

Catalyzed reactions (Rhea), 1 shown:

• Zn(2+)(in) = Zn(2+)(out) (RHEA:29351)

UniProt features (38 total): sequence variant 8, topological domain 7, transmembrane region 6, splice variant 5, modified residue 4, mutagenesis site 4, region of interest 2, chain 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8TC26-F1	76.65	0.38

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 (4): 11, 55, 57, 61

Mutagenesis-validated functional residues (4):

Position	Phenotype
1–72	loss of interaction with mcoln1.
1–42	reduced interaction with mcoln1.
124	severely reduced zinc efflux; when associated with a-128.
128	severely reduced zinc efflux; when associated with a-124.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 161 (showing top): GSE45365_NK_CELL_VS_CD11B_DC_UP, BENPORATH_ES_WITH_H3K27ME3, GOCC_VACUOLAR_MEMBRANE, GOBP_TRANSITION_METAL_ION_TRANSPORT, GOBP_MONOATOMIC_CATION_TRANSPORT, PICCALUGA_ANGIOIMMUNOBLASTIC_LYMPHOMA_UP, GOBP_ENSHEATHMENT_OF_NEURONS, GOBP_MONOATOMIC_ION_HOMEOSTASIS, DOUGLAS_BMI1_TARGETS_UP, JAATINEN_HEMATOPOIETIC_STEM_CELL_UP, MODULE_207, ACEVEDO_METHYLATED_IN_LIVER_CANCER_DN, GOBP_TRANSMEMBRANE_TRANSPORT, DURCHDEWALD_SKIN_CARCINOGENESIS_DN, TGGAAA_NFAT_Q4_01

GO Biological Process (5): intracellular zinc ion homeostasis (GO:0006882), myelination (GO:0042552), zinc ion import into synaptic vesicle (GO:0099180), zinc export across plasma membrane (GO:0140882), zinc ion transmembrane transport (GO:0071577)

GO Molecular Function (2): zinc ion binding (GO:0008270), protein binding (GO:0005515)

GO Cellular Component (12): lysosome (GO:0005764), lysosomal membrane (GO:0005765), late endosome (GO:0005770), plasma membrane (GO:0005886), synaptic vesicle membrane (GO:0030672), early endosome membrane (GO:0031901), late endosome membrane (GO:0031902), intracellular vesicle (GO:0097708), endosome (GO:0005768), membrane (GO:0016020), cytoplasmic vesicle (GO:0031410), synapse (GO:0045202)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
endosome membrane	2
intracellular monoatomic cation homeostasis	1
inorganic ion homeostasis	1
axon ensheathment	1
intercellular transport	1
zinc ion import into organelle	1
zinc ion transmembrane transport	1
export across plasma membrane	1
zinc ion transport	1
monoatomic cation transmembrane transport	1
transition metal ion binding	1
binding	1
lytic vacuole	1
lysosome	1
lytic vacuole membrane	1
endosome	1
membrane	1
cell periphery	1
synaptic vesicle	1
exocytic vesicle membrane	1
early endosome	1
late endosome	1
intracellular anatomical structure	1
vesicle	1
intracellular membrane-bounded organelle	1
endomembrane system	1
cytoplasmic vesicle	1
cellular anatomical structure	1
cytoplasm	1
intracellular vesicle	1
cell junction	1

Protein interactions and networks

STRING

456 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TMEM163	ACMSD	Q8TDX5	571
TMEM163	TMEM175	Q9BSA9	507
TMEM163	CCDC62	Q6P9F0	447
TMEM163	MCCC1	Q96RQ3	431
TMEM163	MOXD1	Q6UVY6	431
TMEM163	SGCG	Q13326	396
TMEM163	KHDRBS3	O75525	393
TMEM163	CDC123	O75794	378
TMEM163	DGKQ	P52824	377
TMEM163	R3HDML	Q9H3Y0	370
TMEM163	NXT2	Q9NPJ8	366
TMEM163	ZNF727	A8MUV8	348
TMEM163	AP3S2	P59780	348
TMEM163	FAM47E	Q6ZV65	348
TMEM163	SYT12	Q8IV01	348

IntAct

16 interactions, top by confidence:

A	B	Type	Score
TMEM163	SLC30A1	psi-mi:“MI:0915”(physical association)	0.460
TMEM163	SLC30A2	psi-mi:“MI:0915”(physical association)	0.460
TMEM163	SLC30A3	psi-mi:“MI:0915”(physical association)	0.460
TMEM163	SLC30A4	psi-mi:“MI:0915”(physical association)	0.460
TMEM163	SLC30A1	psi-mi:“MI:0403”(colocalization)	0.460
TMEM163	SLC30A2	psi-mi:“MI:0403”(colocalization)	0.460
TMEM163	SLC30A3	psi-mi:“MI:0403”(colocalization)	0.460
TMEM163	SLC30A4	psi-mi:“MI:0403”(colocalization)	0.460
TMEM163	TMEM163	psi-mi:“MI:0915”(physical association)	0.400
M		psi-mi:“MI:0914”(association)	0.350
SLC35B4	PSMD11	psi-mi:“MI:0914”(association)	0.350

BioGRID (4): TMEM163 (Affinity Capture-RNA), TMEM163 (Affinity Capture-MS), TMEM163 (Co-fractionation), TMEM163 (Affinity Capture-MS)

ESM2 similar proteins: A6QQX9, A9CMA6, B0UY98, D3ZG27, F1NCD6, F2Z4R5, O00219, O08650, P48651, P51798, Q00576, Q13507, Q17QZ3, Q1JQC1, Q27963, Q2KHY9, Q4R766, Q5M7T4, Q5PQL5, Q5QJU3, Q5R5F8, Q5R7Q1, Q5XIC4, Q5ZIT9, Q5ZJD7, Q5ZKS8, Q5ZM65, Q69YG0, Q6GLN7, Q6ICY4, Q8BRU6, Q8C407, Q8C996, Q8IVW8, Q8N2K0, Q8NBT3, Q8TC26, Q8VCW4, Q8VD53, Q91VM4

Diamond homologs: A6QQX9, A9CMA6, B0UY98, F2Z4R5, Q6GLN7, Q8C996, Q8TC26

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	3
Likely pathogenic	0
Uncertain significance	45
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (3)

Variant ID	HGVS	Classification
2443750	NM_030923.5(TMEM163):c.227T>G (p.Leu76Arg)	Pathogenic
2443751	NM_030923.5(TMEM163):c.412C>T (p.Arg138Cys)	Pathogenic
2443752	NM_030923.5(TMEM163):c.437A>G (p.His146Arg)	Pathogenic

SpliceAI

4073 predictions. Top by Δscore:

Variant	Effect	Δscore
2:134458030:A:AC	donor_gain	1.0000
2:134458031:C:CC	donor_gain	1.0000
2:134458031:CTTGA:C	donor_gain	1.0000
2:134458033:TG:T	donor_gain	1.0000
2:134458170:AACC:A	acceptor_gain	1.0000
2:134458170:AACCC:A	acceptor_loss	1.0000
2:134458172:CC:C	acceptor_gain	1.0000
2:134458173:CC:C	acceptor_gain	1.0000
2:134458174:C:CC	acceptor_gain	1.0000
2:134458174:C:G	acceptor_loss	1.0000
2:134458175:T:G	acceptor_loss	1.0000
2:134466107:TAC:T	donor_loss	1.0000
2:134466108:A:AC	donor_gain	1.0000
2:134466108:ACTC:A	donor_loss	1.0000
2:134466109:C:CC	donor_gain	1.0000
2:134466110:TCAC:T	donor_loss	1.0000
2:134466111:C:CG	donor_loss	1.0000
2:134466112:A:C	donor_loss	1.0000
2:134466113:C:CG	donor_loss	1.0000
2:134466113:CCAT:C	donor_gain	1.0000
2:134550568:A:AC	donor_gain	1.0000
2:134550569:C:CC	donor_gain	1.0000
2:134550657:TCAAA:T	acceptor_gain	1.0000
2:134550658:CAAA:C	acceptor_gain	1.0000
2:134550658:CAAAC:C	acceptor_gain	1.0000
2:134550659:AAA:A	acceptor_gain	1.0000
2:134550660:AA:A	acceptor_gain	1.0000
2:134550660:AAC:A	acceptor_loss	1.0000
2:134550661:AC:A	acceptor_loss	1.0000
2:134550662:C:CC	acceptor_gain	1.0000

AlphaMissense

1875 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:134458173:C:T	G223E	1.000
2:134466114:C:A	G223W	1.000
2:134466125:A:G	L219P	1.000
2:134466133:A:C	S216R	1.000
2:134466133:A:T	S216R	1.000
2:134466135:T:G	S216R	1.000
2:134466140:A:G	L214P	1.000
2:134466149:C:A	G211V	1.000
2:134466149:C:T	G211E	1.000
2:134466150:C:A	G211W	1.000
2:134466150:C:G	G211R	1.000
2:134466150:C:T	G211R	1.000
2:134502980:C:T	G159E	1.000
2:134502981:C:G	G159R	1.000
2:134502981:C:T	G159R	1.000
2:134456774:A:G	L271P	0.999
2:134458038:C:T	G268E	0.999
2:134458039:C:A	G268W	0.999
2:134458039:C:G	G268R	0.999
2:134458039:C:T	G268R	0.999
2:134458050:A:T	I264K	0.999
2:134458059:C:T	G261D	0.999
2:134458060:C:G	G261R	0.999
2:134458071:C:T	G257D	0.999
2:134458072:C:G	G257R	0.999
2:134458083:T:A	D253V	0.999
2:134458124:G:C	S239R	0.999
2:134458124:G:T	S239R	0.999
2:134458126:T:G	S239R	0.999
2:134458143:C:T	G233D	0.999

dbSNP variants (sampled 300 via entrez): RS1000014988 (2:134568199 G>GTT), RS1000020274 (2:134707635 G>T), RS1000021587 (2:134669126 A>G), RS1000046773 (2:134620359 C>A,T), RS1000057564 (2:134572381 T>C), RS1000068280 (2:134583549 C>A), RS1000089913 (2:134529312 C>T), RS1000135292 (2:134487432 G>T), RS1000150503 (2:134458385 A>G), RS1000150644 (2:134574492 G>A), RS1000152028 (2:134455992 ATTATATTTAT>A), RS1000174235 (2:134547661 C>G,T), RS1000191611 (2:134668397 G>A), RS1000195657 (2:134531356 C>A,T), RS1000198291 (2:134488687 C>T)

Disease associations

OMIM: gene MIM:618978 | disease phenotypes: MIM:620243

GenCC curated gene-disease

Disease	Classification	Inheritance
leukodystrophy, hypomyelinating, 25	Strong	Autosomal dominant
leukodystrophy	Strong	Autosomal dominant

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
leukodystrophy, hypomyelinating, 25	Moderate	AD

Mondo (2): leukodystrophy, hypomyelinating, 25 (MONDO:0859378), leukodystrophy (MONDO:0019046)

Orphanet (0):

HPO phenotypes

20 total (20 of 20 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000252	Microcephaly
HP:0000592	Blue sclerae
HP:0000639	Nystagmus
HP:0000750	Delayed speech and language development
HP:0000817	Reduced eye contact
HP:0001250	Seizure
HP:0001252	Hypotonia
HP:0001260	Dysarthria
HP:0001263	Global developmental delay
HP:0001332	Dystonia
HP:0001510	Growth delay
HP:0002066	Gait ataxia
HP:0002188	Delayed CNS myelination
HP:0003593	Infantile onset
HP:0003623	Neonatal onset
HP:0010864	Severe intellectual disability
HP:0011342	Mild global developmental delay
HP:0031936	Delayed ability to walk
HP:0031987	Diminished ability to concentrate

GWAS associations

20 associations (top):

Study	Trait	p-value
GCST001759_1	Type 2 diabetes	7.000000e-08
GCST002288_3	Large artery stroke	8.000000e-06
GCST002544_13	Parkinson’s disease	9.000000e-20
GCST002875_17	Diisocyanate-induced asthma	6.000000e-07
GCST004003_1	Hematocrit	2.000000e-11
GCST004902_42	Parkinson’s disease	8.000000e-24
GCST005775_1	Hematocrit	4.000000e-08
GCST005951_43	Body mass index	5.000000e-09
GCST006303_3	Nicotine withdrawal symptom count	2.000000e-07
GCST006869_1	Nicotine withdrawal	2.000000e-09
GCST006988_198	Blond vs. brown/black hair color	2.000000e-14
GCST009307_4	Spatial memory	7.000000e-07
GCST009325_37	Parkinson’s disease or first degree relation to individual with Parkinson’s disease	5.000000e-14
GCST009325_68	Parkinson’s disease or first degree relation to individual with Parkinson’s disease	2.000000e-08
GCST009391_454	Metabolite levels	8.000000e-06
GCST010242_123	HDL cholesterol levels	2.000000e-08
GCST010302_3	Cutaneous melanoma or hair colour	7.000000e-13
GCST011960_2	Response to dolutegravir (body weight gain)	4.000000e-08
GCST012178_1	Pancreatic ductal adenocarcinoma x smoking interaction	3.000000e-09
GCST90002384_233	Hemoglobin	6.000000e-09

EFO canonical traits (12, from GWAS)

EFO ID	Trait name
EFO:0006995	response to diisocyanate
EFO:0004348	hematocrit
EFO:0004340	body mass index
EFO:0009263	nicotine withdrawal symptom count
EFO:0009362	nicotine withdrawal measurement
EFO:0003924	hair color
EFO:0004874	memory performance
EFO:0010521	phosphocreatine measurement
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0004566	body weight gain
EFO:0006527	smoking status measurement
EFO:0004509	hemoglobin measurement

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
Valproic Acid	affects cotreatment, increases expression, affects expression	7
mercuric bromide	decreases expression, affects cotreatment	2
Panobinostat	affects cotreatment, decreases expression	2
Benzo(a)pyrene	increases expression, increases methylation	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Aflatoxin B1	affects expression, decreases methylation	2
p-Chloromercuribenzoic Acid	affects cotreatment, decreases expression	2
FR900359	increases phosphorylation	1
triphenyl phosphate	affects expression	1
benzo(e)pyrene	decreases methylation	1
cylindrospermopsin	increases expression	1
entinostat	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression, increases expression	1
dorsomorphin	affects cotreatment, decreases expression, increases expression	1
Resveratrol	affects cotreatment, increases expression	1
Sunitinib	increases expression	1
Arsenic Trioxide	decreases expression	1
Vorinostat	decreases expression	1
Cadmium	decreases expression, increases abundance	1
Copper	affects cotreatment, increases expression	1
Demecolcine	increases expression	1
Diethylhexyl Phthalate	decreases expression	1
Estradiol	affects cotreatment, decreases expression	1
Ethyl Methanesulfonate	increases expression	1
Formaldehyde	increases expression	1
Methapyrilene	decreases methylation	1
Phthalic Acids	increases methylation	1
Progesterone	affects cotreatment, decreases expression	1
Tretinoin	decreases expression	1
Triclosan	decreases expression	1

Cellosaurus cell lines

2 cell lines: 1 induced pluripotent stem cell, 1 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_C1VJ	PUFHi004-A	Induced pluripotent stem cell	Female
CVCL_E0R9	Ubigene HeLa TMEM163 KO	Cancer cell line	Female

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00889174	Not specified	COMPLETED	The Nosology and Etiology of Leukodystrophies of Unknown Causes
NCT01793168	Not specified	RECRUITING	Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
NCT02699190	Not specified	COMPLETED	LeukoSEQ: Whole Genome Sequencing as a First-Line Diagnostic Tool for Leukodystrophies
NCT02843555	Not specified	COMPLETED	Natural History of the Leukodystrophies
NCT03047369	Not specified	RECRUITING	The Myelin Disorders Biorepository Project
NCT03333200	Not specified	RECRUITING	Longitudinal Study of Neurodegenerative Disorders
NCT03639285	Not specified	RECRUITING	Natural History, Diagnosis, and Outcomes for Leukodystrophies
NCT05443906	Not specified	RECRUITING	Home Exercise for Individuals with Neurodegenerative Disease