SMDT1

Summary

SMDT1 (single-pass membrane protein with aspartate rich tail 1, HGNC:25055) is a protein-coding gene on chromosome 22q13.2, encoding Essential MCU regulator, mitochondrial (Q9H4I9). Essential regulatory subunit of the mitochondrial calcium uniporter complex (uniplex), a complex that mediates calcium uptake into mitochondria.

This gene encodes a core regulatory component of a calcium channel in the mitochondrial inner membrane.

Source: NCBI Gene 91689 — RefSeq curated summary.

At a glance

• GWAS associations: 5
• Clinical variants (ClinVar): 23 total
• MANE Select transcript: NM_033318

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25055
Approved symbol	SMDT1
Name	single-pass membrane protein with aspartate rich tail 1
Location	22q13.2
Locus type	gene with protein product
Status	Approved
Aliases	dJ186O1.1, DDDD, EMRE
Ensembl gene	ENSG00000183172
Ensembl biotype	protein_coding
OMIM	615588
Entrez	91689

Gene structure

Transcript identifiers

Ensembl transcripts: 15 — 13 protein_coding, 1 nonsense_mediated_decay, 1 retained_intron

ENST00000331479, ENST00000422252, ENST00000484235, ENST00000874726, ENST00000874727, ENST00000874728, ENST00000874729, ENST00000874730, ENST00000874731, ENST00000874732, ENST00000924437, ENST00000924438, ENST00000924439, ENST00000924440, ENST00000951293

RefSeq mRNA: 1 — MANE Select: NM_033318 NM_033318

CCDS: CCDS14031

Canonical transcript exons

ENST00000331479 — 3 exons

Exon	Start	End
ENSE00001306958	42079700	42079954
ENSE00001370607	42083119	42084284
ENSE00003468043	42081925	42082065

Expression profiles

Bgee: expression breadth ubiquitous, 173 present calls, max score 98.51.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 39.6928 / max 402.0772, expressed in 1820 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
192554	32.8168	1816
192555	4.4162	1642
192556	1.7111	1168
192553	0.7487	477

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
hindlimb stylopod muscle	UBERON:0004252	98.51	gold quality
gastrocnemius	UBERON:0001388	98.03	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	97.87	gold quality
body of stomach	UBERON:0001161	97.58	gold quality
left ovary	UBERON:0002119	97.56	gold quality
muscle of leg	UBERON:0001383	97.51	gold quality
granulocyte	CL:0000094	97.49	gold quality
monocyte	CL:0000576	97.47	gold quality
leukocyte	CL:0000738	97.47	gold quality
body of pancreas	UBERON:0001150	97.45	gold quality
adenohypophysis	UBERON:0002196	97.36	gold quality
ganglionic eminence	UBERON:0004023	97.32	gold quality
anterior cingulate cortex	UBERON:0009835	97.31	gold quality
right atrium auricular region	UBERON:0006631	97.25	gold quality
right ovary	UBERON:0002118	97.22	gold quality
left adrenal gland cortex	UBERON:0035825	97.15	gold quality
mucosa of transverse colon	UBERON:0004991	97.13	gold quality
endocervix	UBERON:0000458	97.12	gold quality
left lobe of thyroid gland	UBERON:0001120	97.09	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	97.07	gold quality
right lobe of thyroid gland	UBERON:0001119	97.02	gold quality
lower esophagus mucosa	UBERON:0035834	97.01	gold quality
right frontal lobe	UBERON:0002810	97.00	gold quality
left adrenal gland	UBERON:0001234	96.95	gold quality
lower esophagus	UBERON:0013473	96.94	gold quality
lower esophagus muscularis layer	UBERON:0035833	96.94	gold quality
cortical plate	UBERON:0005343	96.93	gold quality
left uterine tube	UBERON:0001303	96.87	gold quality
Brodmann (1909) area 9	UBERON:0013540	96.86	gold quality
metanephros cortex	UBERON:0010533	96.83	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	16.71
E-MTAB-8142	yes	14.20
E-MTAB-7606	no	668.16
E-MTAB-8911	no	149.23

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

50 targeting SMDT1, 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-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-150-5P	99.99	66.69	1976
HSA-MIR-10523-5P	99.91	69.22	2038
HSA-MIR-629-3P	99.85	67.99	1875
HSA-MIR-202-3P	99.84	71.41	1290
HSA-MIR-4713-5P	99.78	67.80	1794
HSA-MIR-3150A-3P	99.76	64.44	1640
HSA-MIR-6763-5P	99.76	64.68	1767
HSA-MIR-2116-3P	99.74	64.32	889
HSA-MIR-3175	99.65	66.30	2031
HSA-MIR-6757-3P	99.63	66.88	1089
HSA-MIR-4516	99.61	67.78	3390
HSA-MIR-12123	99.52	71.79	2990
HSA-MIR-3147	99.52	66.34	388
HSA-MIR-4251	99.40	69.19	3363
HSA-MIR-5683	99.36	68.59	2083
HSA-MIR-532-3P	99.34	65.76	1195
HSA-MIR-3160-5P	99.28	69.07	1938
HSA-MIR-6071	99.16	67.77	1780
HSA-MIR-4434	99.10	67.01	1984
HSA-MIR-5703	99.10	67.09	2053
HSA-MIR-4651	99.06	67.57	2002
HSA-MIR-608	98.93	67.83	2013
HSA-MIR-1294	98.91	69.26	1030
HSA-MIR-9986	98.91	69.28	1024

Literature-anchored findings (GeneRIF, showing 8)

• EMRE (C22orf32) is an integral mitochondrial inner membrane protein and component of the mitochondrial uniporter complex (uniplex). It is essential for uniporter channel activity. In its absence, the pore does not interact with its regulators MICU1/2. (PMID:24231807)
• EMRE is essential for in vivo uniporter current and additionally bridges the calcium-sensing role of MICU1 and MICU2 with the calcium-conducting role of MCU. (PMID:24231807)
• Our experiments provide novel details about how MCU/EMRE is regulated by MICU1 and an original approach to investigate MCU/EMRE activation in intact cells. (PMID:26489515)
• Here, the authors determine the transmembrane orientation of EMRE, and show that its known MCU-activating function is mediated by the interaction of transmembrane helices from both proteins. (PMID:27099988)
• SMDT1 overexpression induced mitochondrial mediated apoptosis. (PMID:30782485)
• the human MCU-EMRE complex, which constitutes the minimal channel components among metazoans, provides a framework for future mechanistic studies on MCU. (PMID:31080062)
• Mechanisms of EMRE-Dependent MCU Opening in the Mitochondrial Calcium Uniporter Complex. (PMID:33296646)
• SMDT1 variants impair EMRE-mediated mitochondrial calcium uptake in patients with muscle involvement. (PMID:37454773)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	smdt1a	ENSDARG00000095826
danio_rerio	smdt1b	ENSDARG00000098852
mus_musculus	Smdt1	ENSMUSG00000022452
rattus_norvegicus		ENSRNOG00000066493
drosophila_melanogaster	EMRE	FBGN0062440
caenorhabditis_elegans		WBGENE00008980

Protein

Protein identifiers

Essential MCU regulator, mitochondrial — Q9H4I9 (reviewed: Q9H4I9)

Alternative names: Single-pass membrane protein with aspartate-rich tail 1, mitochondrial

All UniProt accessions (2): Q9H4I9, F8WDX6

UniProt curated annotations — full annotation on UniProt →

Function. Essential regulatory subunit of the mitochondrial calcium uniporter complex (uniplex), a complex that mediates calcium uptake into mitochondria. Required to bridge the calcium-sensing proteins MICU1 with the calcium-conducting subunit MCU. Acts by mediating activation of MCU and retention of MICU1 to the MCU pore, in order to ensure tight regulation of the uniplex complex and appropriate responses to intracellular calcium signaling.

Subunit / interactions. Component of the uniplex complex, composed of MCU, EMRE/SMDT1, MICU1 and MICU2 (or MICU3) in a 4:4:1:1 stoichiometry. The number of EMRE/SMDT1 molecules is hovewer variable, ranging from 1 to 4 copies per uniplex complex, leading to uniplex complexes with distinct gatekeeping profiles. Interacts (via its C-terminal poly-Asp tail) with MCUR1; the interaction is direct. Unprocessed form interacts (via transit peptide) with MAIP1.

Subcellular location. Mitochondrion inner membrane.

Post-translational modifications. Undergoes proteolytic degradation in neurons: degraded by AFG3L2 and SPG7 before SMDT1/EMRE assembly with the uniporter complex, limiting the availability of SMDT1/EMRE for MCU assembly and promoting efficient assembly of gatekeeper subunits with MCU.

Domain organisation. The GXXXX[G/A/S] motif at the C-terminal part of the transmembrane region mediates interaction with MCU and is required to activate the calcium-conducting pore in the uniporter complex. The poly-Asp region at the C-terminus mediates interaction with the polybasic region of MICU1.

Similarity. Belongs to the SMDT1/EMRE family.

RefSeq proteins (1): NP_201575* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR018782	MCU_reg	Family

Pfam: PF10161

UniProt features (21 total): mutagenesis site 8, helix 3, topological domain 2, transit peptide 1, chain 1, strand 1, turn 1, transmembrane region 1, region of interest 1, short sequence motif 1, sequence variant 1

Structure

Experimental structures (PDB)

8 structures.

PDB	Method	Resolution (Å)
6WDN	ELECTRON MICROSCOPY	3.2
6K7X	ELECTRON MICROSCOPY	3.27
6K7Y	ELECTRON MICROSCOPY	3.6
6O5B	ELECTRON MICROSCOPY	3.6
6WDO	ELECTRON MICROSCOPY	3.6
6O58	ELECTRON MICROSCOPY	3.8
6XJV	ELECTRON MICROSCOPY	4.17
6XJX	ELECTRON MICROSCOPY	4.6

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9H4I9-F1	73.00	0.20

Functional residue map

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

Mutagenesis-validated functional residues (8):

Position	Phenotype
60	abolished interaction with mcu.
67–70	does not affect interaction with mcu.
81	abolishes calcium uptake into mitochondria.
83	promotes association with mcu, protecting smdt1/emre from degradation by afg3l2 and sp7.
85	abolishes calcium uptake into mitochondria. promotes association with mcu, protecting smdt1/emre from degradation by afg
101–107	abolishes regulation of calcium uptake into mitochondria.
58	abolished interaction with mcu.
59	abolished interaction with mcu.

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-8949215	Mitochondrial calcium ion transport
R-HSA-8949664	Processing of SMDT1
R-HSA-9837999	Mitochondrial protein degradation

MSigDB gene sets: 147 (showing top): CREBP1_Q2, GOBP_MONOATOMIC_CATION_TRANSPORT, GOBP_MITOCHONDRIAL_CALCIUM_ION_HOMEOSTASIS, SENGUPTA_NASOPHARYNGEAL_CARCINOMA_DN, TGIF_01, GOCC_MITOCHONDRIAL_ENVELOPE, GOBP_CELLULAR_RESPONSE_TO_STARVATION, GOBP_MONOATOMIC_ION_HOMEOSTASIS, GOBP_CALCIUM_ION_TRANSMEMBRANE_TRANSPORT, CAGCCTC_MIR4855P, GOBP_TRANSMEMBRANE_TRANSPORT, GOBP_RESPONSE_TO_STARVATION, GOCC_MITOCHONDRIAL_MATRIX, GOCC_ORGANELLE_INNER_MEMBRANE, GOBP_HOMEOSTATIC_PROCESS

GO Biological Process (7): mitochondrial calcium ion transmembrane transport (GO:0006851), calcium import into the mitochondrion (GO:0036444), mitochondrial calcium ion homeostasis (GO:0051560), cellular response to calcium ion starvation (GO:0072732), monoatomic ion transport (GO:0006811), calcium ion transport (GO:0006816), cellular response to calcium ion (GO:0071277)

GO Molecular Function (3): protein-macromolecule adaptor activity (GO:0030674), channel activator activity (GO:0099103), protein binding (GO:0005515)

GO Cellular Component (6): nucleoplasm (GO:0005654), mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), mitochondrial matrix (GO:0005759), uniplex complex (GO:1990246), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Transport of small molecules	1
Mitochondrial calcium ion transport	1
Metabolism of proteins	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
mitochondrion	2
cellular anatomical structure	2
calcium ion transmembrane transport	1
mitochondrial calcium ion transmembrane transport	1
intercellular transport	1
intracellular calcium ion homeostasis	1
cellular response to starvation	1
transport	1
metal ion transport	1
response to calcium ion	1
cellular response to metal ion	1
protein binding	1
molecular adaptor activity	1
channel activity	1
channel regulator activity	1
transporter activator activity	1
binding	1
nuclear lumen	1
cytoplasm	1
intracellular membrane-bounded organelle	1
organelle inner membrane	1
mitochondrial membrane	1
intracellular organelle lumen	1
calcium channel complex	1
inner mitochondrial membrane protein complex	1

Protein interactions and networks

STRING

826 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SMDT1	MICU2	Q8IYU8	999
SMDT1	MICU1	Q9BPX6	999
SMDT1	MCUB	Q9NWR8	997
SMDT1	MCUR1	Q96AQ8	995
SMDT1	MICU3	Q86XE3	993
SMDT1	MCU	Q8NE86	988
SMDT1	SLC8B1	Q6J4K2	661
SMDT1	LETM1	O95202	650
SMDT1	VDAC1	P21796	615
SMDT1	SLC25A23	Q9BV35	594
SMDT1	FADD	Q13158	589
SMDT1	TRADD	Q15628	576
SMDT1	AFG3L2	Q9Y4W6	574
SMDT1	MAIP1	Q8WWC4	572
SMDT1	HSPA9	P30036	560

IntAct

27 interactions, top by confidence:

A	B	Type	Score
MCU	SMDT1	psi-mi:“MI:0915”(physical association)	0.760
ASPH	STXBP3	psi-mi:“MI:0914”(association)	0.640
SMDT1	MYLK2	psi-mi:“MI:0915”(physical association)	0.590
GPR183	NRP1	psi-mi:“MI:0914”(association)	0.530
MCU	MICU2	psi-mi:“MI:0914”(association)	0.530
SMDT1	MICU2	psi-mi:“MI:0915”(physical association)	0.490
PDCD1	TMEM223	psi-mi:“MI:0914”(association)	0.350
EID3	ACSL4	psi-mi:“MI:0914”(association)	0.350
SLC22A4	RTL8C	psi-mi:“MI:0914”(association)	0.350
IL2RA	LTN1	psi-mi:“MI:0914”(association)	0.350
ASPH	POTEF	psi-mi:“MI:0914”(association)	0.350
SMDT1	COL1A1	psi-mi:“MI:0914”(association)	0.350
SMDT1	MTOR	psi-mi:“MI:0915”(physical association)	0.000
SMDT1	EIF2B2	psi-mi:“MI:0915”(physical association)	0.000
SMDT1	EIF2B5	psi-mi:“MI:0915”(physical association)	0.000
SMDT1	EIF2B1	psi-mi:“MI:0915”(physical association)	0.000
SMDT1	MCU	psi-mi:“MI:0915”(physical association)	0.000
SMDT1	EIF2B3	psi-mi:“MI:0915”(physical association)	0.000
SMDT1	EIF2B4	psi-mi:“MI:0915”(physical association)	0.000
SMDT1	BZW2	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (35): SMDT1 (Affinity Capture-RNA), SMDT1 (Affinity Capture-MS), SMDT1 (Affinity Capture-MS), MYLK2 (Affinity Capture-MS), SMDT1 (Affinity Capture-MS), SMDT1 (Affinity Capture-MS), SMDT1 (Affinity Capture-MS), SMDT1 (Affinity Capture-MS), MYLK2 (Affinity Capture-MS), EIF2B1 (Affinity Capture-MS), EIF2B2 (Affinity Capture-MS), EIF2B4 (Affinity Capture-MS), BZW2 (Affinity Capture-MS), MCU (Affinity Capture-MS), EIF2B5 (Affinity Capture-MS)

ESM2 similar proteins: A0JPH4, A2A8U2, A3KN05, A6H773, A6QPI4, O14524, Q05B67, Q08BI9, Q15070, Q1G3L1, Q2M2S2, Q2NL34, Q3SYV3, Q3SZV6, Q4KLZ1, Q5EA03, Q5G2C6, Q5GH64, Q5RC29, Q5RE99, Q5SNT2, Q5SPH9, Q5T6X4, Q5XIJ4, Q5ZLJ4, Q5ZML6, Q6AY04, Q6DVA0, Q6PCT8, Q800L1, Q86XE3, Q8BGA9, Q8BGY7, Q8IYL2, Q8NC56, Q8WWC4, Q921N7, Q95123, Q96B77, Q96ND0

Diamond homologs: D6X268, Q17ED3, Q28ED6, Q290M9, Q2M2S2, Q5XG64, Q7JX57, Q7QHP6, Q9DB10, Q9H4I9, Q9U3I4

SIGNOR signaling

4 interactions.

A	Effect	B	Mechanism
SMDT1	“form complex”	MCU_MICUB_variant	binding
SMDT1	“form complex”	MCU_MICU1_variant	binding
SMDT1	“form complex”	MCU_MICU3_variant	binding
SMDT1	“form complex”	MCU_MICU2_variant	binding

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.

GO biological processes:

GO term	Partners	Fold	FDR
oligodendrocyte development	5	130.8×	3e-08
response to heat	6	109.9×	2e-09
response to peptide hormone	5	85.2×	2e-07
translational initiation	5	78.0×	3e-07
response to glucose	5	55.5×	1e-06
T cell receptor signaling pathway	5	33.0×	2e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	16
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

676 predictions. Top by Δscore:

Variant	Effect	Δscore
22:42079955:G:GG	donor_gain	1.0000
22:42082062:ACAGG:A	donor_loss	1.0000
22:42082065:GGTAA:G	donor_loss	1.0000
22:42082067:T:A	donor_loss	1.0000
22:42087055:GTTA:G	donor_loss	1.0000
22:42087056:TTACC:T	donor_loss	1.0000
22:42087057:TACCT:T	donor_loss	1.0000
22:42087058:ACCTT:A	donor_loss	1.0000
22:42087059:C:CA	donor_loss	1.0000
22:42087080:C:CT	donor_gain	1.0000
22:42087081:C:CT	donor_gain	1.0000
22:42087171:GTGCA:G	acceptor_gain	1.0000
22:42087172:TGCA:T	acceptor_gain	1.0000
22:42087173:GCA:G	acceptor_gain	1.0000
22:42087174:CA:C	acceptor_gain	1.0000
22:42087174:CAC:C	acceptor_gain	1.0000
22:42087176:C:CC	acceptor_gain	1.0000
22:42079951:GAAA:G	donor_gain	0.9900
22:42080398:A:AG	acceptor_gain	0.9900
22:42080399:G:GG	acceptor_gain	0.9900
22:42081919:CTGCA:C	acceptor_loss	0.9900
22:42081920:TGCA:T	acceptor_loss	0.9900
22:42081921:GCA:G	acceptor_loss	0.9900
22:42081922:CA:C	acceptor_loss	0.9900
22:42081923:A:AG	acceptor_gain	0.9900
22:42081923:AG:A	acceptor_loss	0.9900
22:42081924:G:GC	acceptor_loss	0.9900
22:42081924:G:GG	acceptor_gain	0.9900
22:42081924:GAT:G	acceptor_gain	0.9900
22:42082066:G:GG	donor_gain	0.9900

AlphaMissense

690 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
22:42082030:T:C	F98L	0.999
22:42082032:T:A	F98L	0.999
22:42082032:T:G	F98L	0.999
22:42082004:C:A	A89D	0.998
22:42082013:T:A	L92H	0.998
22:42082031:T:G	F98C	0.998
22:42081991:A:C	S85R	0.997
22:42081993:C:A	S85R	0.997
22:42081993:C:G	S85R	0.997
22:42082017:G:C	E93D	0.996
22:42082017:G:T	E93D	0.996
22:42081992:G:A	S85N	0.995
22:42082028:T:C	I97T	0.995
22:42081979:G:A	G81R	0.994
22:42081979:G:C	G81R	0.994
22:42081980:G:A	G81E	0.994
22:42081996:G:C	K86N	0.993
22:42081996:G:T	K86N	0.993
22:42082013:T:C	L92P	0.993
22:42082028:T:G	I97S	0.993
22:42081992:G:T	S85I	0.992
22:42082028:T:A	I97N	0.992
22:42082031:T:C	F98S	0.992
22:42081989:T:A	I84N	0.991
22:42082022:A:C	H95P	0.991
22:42082006:G:C	A90P	0.990
22:42082010:T:C	L91P	0.990
22:42082030:T:A	F98I	0.990
22:42081971:T:C	L78P	0.989
22:42082016:A:T	E93V	0.989

dbSNP variants (sampled 300 via entrez): RS1000656075 (22:42078630 G>A), RS1001170432 (22:42083202 G>A), RS1002144996 (22:42081976 G>C), RS1002177775 (22:42081761 C>A,T), RS1002624546 (22:42081215 G>A), RS1002809585 (22:42084658 G>C,T), RS1002987560 (22:42078474 G>A), RS1003805175 (22:42078768 T>A,C), RS1004158160 (22:42079400 G>C), RS1004221577 (22:42081740 G>A), RS1004594510 (22:42081479 T>C), RS1005178425 (22:42080460 G>C), RS1006179803 (22:42079365 T>C), RS1006757747 (22:42084762 C>A), RS1007331361 (22:42083751 T>C)

Disease associations

OMIM: gene MIM:615588 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

5 associations (top):

Study	Trait	p-value
GCST002539_95	Schizophrenia	2.000000e-09
GCST004521_160	Autism spectrum disorder or schizophrenia	3.000000e-08
GCST004521_244	Autism spectrum disorder or schizophrenia	4.000000e-09
GCST006803_13	Schizophrenia	2.000000e-14
GCST010002_83	Refractive error	2.000000e-27

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs1807493	PHETA2, SMDT1		0.00	0

CTD chemical–gene interactions

19 total (human), top 19 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression	5
Tunicamycin	increases expression	2
arsenite	affects binding, increases reaction	1
methylparaben	decreases expression	1
butyraldehyde	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
abrine	increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
Sunitinib	decreases expression	1
Acetaminophen	decreases expression	1
Air Pollutants	affects expression, increases abundance	1
Atrazine	decreases expression	1
Benzo(a)pyrene	increases methylation	1
Ozone	affects expression, increases abundance	1
Smoke	decreases expression	1
Gold Compounds	increases expression	1
Cadmium Chloride	decreases expression	1
Copper Sulfate	decreases expression	1
Lactic Acid	decreases 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_D8AX	Ubigene A-549 SMDT1 KO	Cancer cell line	Male

Clinical trials (associated diseases)

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