MRPS18C

Summary

MRPS18C (mitochondrial ribosomal protein S18C, HGNC:16633) is a protein-coding gene on chromosome 4q21.23, encoding Small ribosomal subunit protein bS18m (Q9Y3D5). It is a selective cancer dependency (DepMap: 19.1% of cell lines).

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S18P family. The encoded protein is one of three that has significant sequence similarity to bacterial S18 proteins. The primary sequences of the three human mitochondrial S18 proteins are no more closely related to each other than they are to the prokaryotic S18 proteins. Pseudogenes corresponding to this gene are found on chromosomes 8p, 12p, 15q, and 22q.

Source: NCBI Gene 51023 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 17 total
• Cancer dependency (DepMap): dependent in 19.1% of screened cell lines
• MANE Select transcript: NM_016067

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:16633
Approved symbol	MRPS18C
Name	mitochondrial ribosomal protein S18C
Location	4q21.23
Locus type	gene with protein product
Status	Approved
Aliases	MRPS18-1, CGI-134, FLJ11146, FLJ22967, bS18m
Ensembl gene	ENSG00000163319
Ensembl biotype	protein_coding
OMIM	611983
Entrez	51023

Gene structure

Transcript identifiers

Ensembl transcripts: 19 — 15 protein_coding, 3 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000295491, ENST00000505525, ENST00000505719, ENST00000507019, ENST00000507349, ENST00000509571, ENST00000509970, ENST00000512375, ENST00000514581, ENST00000857155, ENST00000857156, ENST00000857157, ENST00000857158, ENST00000917303, ENST00000917304, ENST00000917305, ENST00000917306, ENST00000917307, ENST00000917308

RefSeq mRNA: 4 — MANE Select: NM_016067 NM_001297767, NM_001297769, NM_001297770, NM_016067

CCDS: CCDS3604, CCDS75159, CCDS77933

Canonical transcript exons

ENST00000295491 — 6 exons

Exon	Start	End
ENSE00001073312	83459740	83459797
ENSE00001073317	83458346	83458429
ENSE00001150201	83456058	83456177
ENSE00001181017	83461121	83462298
ENSE00001233635	83456909	83456958
ENSE00003548320	83460973	83461032

Expression profiles

Bgee: expression breadth ubiquitous, 268 present calls, max score 95.86.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 50.5568 / max 775.5929, expressed in 1818 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
48609	48.9847	1817
48608	1.4993	992
203273	0.0728	29

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
hindlimb stylopod muscle	UBERON:0004252	95.86	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	95.64	gold quality
heart right ventricle	UBERON:0002080	95.34	silver quality
biceps brachii	UBERON:0001507	95.32	gold quality
monocyte	CL:0000576	94.95	gold quality
calcaneal tendon	UBERON:0003701	94.85	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	94.69	silver quality
mononuclear cell	CL:0000842	94.66	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	94.51	gold quality
leukocyte	CL:0000738	94.50	gold quality
body of tongue	UBERON:0011876	94.33	gold quality
oral cavity	UBERON:0000167	94.18	gold quality
pharyngeal mucosa	UBERON:0000355	93.80	gold quality
muscle of leg	UBERON:0001383	93.45	gold quality
gastrocnemius	UBERON:0001388	93.44	gold quality
pons	UBERON:0000988	93.07	gold quality
prefrontal cortex	UBERON:0000451	92.89	gold quality
right adrenal gland	UBERON:0001233	92.84	gold quality
palpebral conjunctiva	UBERON:0001812	92.83	gold quality
islet of Langerhans	UBERON:0000006	92.78	gold quality
left adrenal gland	UBERON:0001234	92.77	gold quality
cardiac ventricle	UBERON:0002082	92.77	gold quality
heart left ventricle	UBERON:0002084	92.75	gold quality
mucosa of transverse colon	UBERON:0004991	92.72	gold quality
right adrenal gland cortex	UBERON:0035827	92.51	gold quality
descending thoracic aorta	UBERON:0002345	92.25	gold quality
left adrenal gland cortex	UBERON:0035825	92.22	gold quality
adrenal gland	UBERON:0002369	92.20	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	92.16	gold quality
adrenal cortex	UBERON:0001235	92.11	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	11.67

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

33 targeting MRPS18C, 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-3143	99.93	71.96	3104
HSA-MIR-627-3P	99.90	71.42	3316
HSA-MIR-6857-5P	99.87	65.32	985
HSA-MIR-6515-3P	99.82	68.19	1933
HSA-MIR-577	99.78	69.13	2479
HSA-MIR-3659	99.70	67.97	694
HSA-MIR-6516-3P	99.65	68.57	1238
HSA-MIR-7159-5P	99.53	72.12	2472
HSA-MIR-543	99.52	69.03	2595
HSA-MIR-4666A-5P	99.41	69.72	1887
HSA-MIR-4460	99.37	68.52	615
HSA-MIR-7151-5P	99.37	67.82	613
HSA-MIR-4796-5P	99.34	70.06	810
HSA-MIR-1911-3P	99.15	66.17	528
HSA-MIR-421	98.90	67.04	1883
HSA-MIR-4272	98.76	68.74	1810
HSA-MIR-1-5P	98.70	68.66	1017
HSA-MIR-9500	98.62	66.54	1845
HSA-MIR-1237-3P	98.55	67.65	1423
HSA-MIR-1246	98.54	66.21	959
HSA-MIR-4450	98.26	68.35	725
HSA-MIR-3179	98.22	65.90	1445
HSA-MIR-3132	97.96	67.91	711
HSA-MIR-450A-2-3P	97.91	67.56	1459
HSA-MIR-1255B-2-3P	97.80	67.04	880
HSA-MIR-556-5P	97.75	66.17	473
HSA-MIR-376C-3P	97.63	68.88	1263
HSA-MIR-4642	97.52	67.60	916
HSA-MIR-937-5P	97.43	68.39	667
HSA-MIR-4693-5P	97.35	67.02	1234

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 19.1% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 2)

• Overexpression of MRPS18C gene (that encode for bS18m protein) suppressed the molecular defects produced by this mtDNA mutation, recovering the complex I activity and reducing the reactive oxygen species produced by this complex to normal levels. (PMID:28526948)
• Expression pattern of MRPS18 family genes in gliomas. (PMID:34591434)

Cross-species orthologs

1 orthologs

Organism	Symbol	Gene ID
mus_musculus	Mrps18c	ENSMUSG00000016833

Protein

Protein identifiers

Small ribosomal subunit protein bS18m — Q9Y3D5 (reviewed: Q9Y3D5)

Alternative names: 28S ribosomal protein S18-1, mitochondrial, 28S ribosomal protein S18c, mitochondrial, Small ribosomal subunit protein bS18c

All UniProt accessions (5): D6RCM2, D6RE70, Q9Y3D5, H0Y9W2, H0YAG5

UniProt curated annotations — full annotation on UniProt →

Subunit / interactions. Component of the mitochondrial small ribosomal subunit (mt-SSU). Mature mammalian 55S mitochondrial ribosomes consist of a small (28S) and a large (39S) subunit. The 28S small subunit contains a 12S ribosomal RNA (12S mt-rRNA) and 30 different proteins. The 39S large subunit contains a 16S rRNA (16S mt-rRNA), a copy of mitochondrial valine transfer RNA (mt-tRNA(Val)), which plays an integral structural role, and 52 different proteins. bS18m has a zinc binding site.

Subcellular location. Mitochondrion.

Miscellaneous. There are 3 mitochondrial isoforms of bS18 in mammalia, localizing to 3 distinct sites in the mitoribosome. bS18m (bs18c, this protein) binds to the same site as bacterial bS18, mS40 (bS18b) binds to a novel location of the 28S small subunit, and mL66 (bS18a) binds to the 39S large subunit.

Similarity. Belongs to the bacterial ribosomal protein bS18 family.

RefSeq proteins (4): NP_001284696, NP_001284698, NP_001284699, NP_057151* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001648	Ribosomal_bS18	Family
IPR018275	Ribosomal_bS18_CS	Conserved_site
IPR036870	Ribosomal_bS18_sf	Homologous_superfamily

Pfam: PF01084

UniProt features (10 total): helix 5, turn 2, transit peptide 1, chain 1, strand 1

Structure

Experimental structures (PDB)

76 structures, top 30 by resolution.

PDB	Method	Resolution (Å)
7QI4	ELECTRON MICROSCOPY	2.21
8CSS	ELECTRON MICROSCOPY	2.36
7P2E	ELECTRON MICROSCOPY	2.4
8RRI	ELECTRON MICROSCOPY	2.4
9OLF	ELECTRON MICROSCOPY	2.46
8CSQ	ELECTRON MICROSCOPY	2.54
8CSR	ELECTRON MICROSCOPY	2.54
6ZM6	ELECTRON MICROSCOPY	2.59
7QI5	ELECTRON MICROSCOPY	2.63
8CSP	ELECTRON MICROSCOPY	2.66
7PNX	ELECTRON MICROSCOPY	2.76
8ANY	ELECTRON MICROSCOPY	2.85
8CST	ELECTRON MICROSCOPY	2.85
6ZM5	ELECTRON MICROSCOPY	2.89
7PO0	ELECTRON MICROSCOPY	2.9
8K2A	ELECTRON MICROSCOPY	2.9
9PGL	ELECTRON MICROSCOPY	2.9
7PO1	ELECTRON MICROSCOPY	2.92
7PO3	ELECTRON MICROSCOPY	2.92
9PGF	ELECTRON MICROSCOPY	2.93
6VMI	ELECTRON MICROSCOPY	2.96
6RW4	ELECTRON MICROSCOPY	2.97
6VLZ	ELECTRON MICROSCOPY	2.97
7QI6	ELECTRON MICROSCOPY	2.98
8QRN	ELECTRON MICROSCOPY	2.98
9PSM	ELECTRON MICROSCOPY	2.98
8OIS	ELECTRON MICROSCOPY	3
9G5C	ELECTRON MICROSCOPY	3
9G5D	ELECTRON MICROSCOPY	3
9HFM	ELECTRON MICROSCOPY	3

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9Y3D5-F1	80.53	0.61

Function

Pathways and Gene Ontology

Reactome pathways

7 pathways

ID	Pathway
R-HSA-5368286	Mitochondrial translation initiation
R-HSA-5389840	Mitochondrial translation elongation
R-HSA-5419276	Mitochondrial translation termination
R-HSA-9937383	Mitochondrial ribosome-associated quality control
R-HSA-392499	Metabolism of proteins
R-HSA-5368287	Mitochondrial translation
R-HSA-72766	Translation

MSigDB gene sets: 135 (showing top): GOBP_MITOCHONDRIAL_TRANSLATION, GOBP_TRANSLATION, WEI_MYCN_TARGETS_WITH_E_BOX, MILI_PSEUDOPODIA_HAPTOTAXIS_UP, GOMF_STRUCTURAL_CONSTITUENT_OF_RIBOSOME, GOCC_MITOCHONDRIAL_ENVELOPE, WONG_MITOCHONDRIA_GENE_MODULE, ZHANG_BREAST_CANCER_PROGENITORS_UP, GRYDER_PAX3FOXO1_ENHANCERS_IN_TADS, chr4q21, GOCC_RIBOSOME, GOCC_SMALL_RIBOSOMAL_SUBUNIT, GOCC_ORGANELLAR_RIBOSOME, GOCC_MITOCHONDRIAL_MATRIX, GOCC_ORGANELLE_INNER_MEMBRANE

GO Biological Process (2): translation (GO:0006412), mitochondrial translation (GO:0032543)

GO Molecular Function (2): structural constituent of ribosome (GO:0003735), small ribosomal subunit rRNA binding (GO:0070181)

GO Cellular Component (5): mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), mitochondrial small ribosomal subunit (GO:0005763), ribosome (GO:0005840), ribonucleoprotein complex (GO:1990904)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Mitochondrial translation	4
Translation	1
Metabolism of proteins	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
peptidyltransferase activity	1
translational initiation	1
translational elongation	1
translational termination	1
macromolecule biosynthetic process	1
protein metabolic process	1
protein biosynthetic process	1
mitochondrion	1
translation	1
mitochondrial gene expression	1
structural molecule activity	1
ribosome	1
rRNA binding	1
cytoplasm	1
intracellular membrane-bounded organelle	1
organelle inner membrane	1
mitochondrial membrane	1
organellar small ribosomal subunit	1
mitochondrial ribosome	1
mitochondrial protein-containing complex	1
intracellular membraneless organelle	1
protein-containing complex	1

Protein interactions and networks

STRING

2380 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MRPS18C	MRPS18A	Q9NVS2	980
MRPS18C	MRPL50	Q8N5N7	648
MRPS18C	MRPS14	O60783	640
MRPS18C	MRPL42	Q9Y6G3	587
MRPS18C	MRPL24	Q96A35	558
MRPS18C	MRPS6	P82932	555
MRPS18C	MRPS18B	Q9Y676	545
MRPS18C	MRPL20	Q9BYC9	543
MRPS18C	MRPL1	Q9BYD6	543
MRPS18C	MRPS9	P82933	542
MRPS18C	MRPL16	Q9NX20	534
MRPS18C	MRPL51	Q4U2R6	522
MRPS18C	COQ7	Q99807	455
MRPS18C	MTG1	Q9BT17	455
MRPS18C	MRPL53	Q96EL3	450

IntAct

116 interactions, top by confidence:

A	B	Type	Score
NOP53	RRP8	psi-mi:“MI:0914”(association)	0.640
NOL12	RRP8	psi-mi:“MI:0914”(association)	0.640
MRPS27	MRPS14	psi-mi:“MI:0914”(association)	0.640
LIN28A	IGF2BP3	psi-mi:“MI:0914”(association)	0.640
MRPS6	STAT5A	psi-mi:“MI:0914”(association)	0.550
ZNF707	ZNF316	psi-mi:“MI:0914”(association)	0.530
RPL18	NOP56	psi-mi:“MI:0914”(association)	0.530
ZBTB48	ZBTB24	psi-mi:“MI:0914”(association)	0.530
E4F1	ZBTB24	psi-mi:“MI:0914”(association)	0.530
RPL6	MRPS14	psi-mi:“MI:0914”(association)	0.530
TRMT10B	MRPS14	psi-mi:“MI:0914”(association)	0.530
PDGFB	DKC1	psi-mi:“MI:0914”(association)	0.530
MRPS18B	MRPS14	psi-mi:“MI:0914”(association)	0.530
MRPL2	GTPBP10	psi-mi:“MI:0914”(association)	0.530
CCDC59	GAPDHS	psi-mi:“MI:0914”(association)	0.530
MRPS34	ZZEF1	psi-mi:“MI:0914”(association)	0.530
MRPS18C	MRPS14	psi-mi:“MI:0914”(association)	0.530
MRPS11	MRPS14	psi-mi:“MI:0914”(association)	0.530
ABT1	ZNF316	psi-mi:“MI:0914”(association)	0.530
MRPS26	MRPS10	psi-mi:“MI:0914”(association)	0.530
MRPS34	MRPS12	psi-mi:“MI:0914”(association)	0.530
VTN	HAT1	psi-mi:“MI:0914”(association)	0.530

BioGRID (233): MRPS18C (Affinity Capture-RNA), MRPS18C (Affinity Capture-RNA), MRPS18C (Affinity Capture-MS), MRPS18C (Affinity Capture-MS), MRPS18C (Affinity Capture-MS), MRPS18C (Affinity Capture-MS), MRPS18C (Affinity Capture-MS), MRPS18C (Affinity Capture-MS), MRPS18C (Affinity Capture-MS), MRPS18C (Affinity Capture-MS), MRPS18C (Affinity Capture-MS), MRPS18C (Affinity Capture-MS), MRPS18C (Co-fractionation), MRPS18C (Affinity Capture-MS), MRPS18C (Affinity Capture-MS)

ESM2 similar proteins: A1L1F1, A4IHH4, A6H773, F1QWK4, O08776, P09925, P82923, Q08BI9, Q12851, Q148G5, Q15526, Q2HJI2, Q2KID9, Q2NL34, Q3T056, Q4FZX0, Q4KLZ1, Q4R8P0, Q4V7A9, Q5CZL1, Q5EA03, Q5EBA1, Q5REX5, Q5XGM5, Q5ZLJ4, Q61161, Q6DFN1, Q6DIS1, Q6PE15, Q7ZU92, Q800L1, Q80YD1, Q810A5, Q8BSF4, Q8R2L5, Q91WM2, Q921N7, Q924T2, Q96B77, Q99N87

Diamond homologs: A1A3H9, A2C261, A2RCR6, A3CL34, A4VXF9, A4W3Q0, A5VP26, A6MVX7, A6U7G6, A6WWE5, A7FZG9, A8AZD5, A8YW49, A9KKC8, A9M8X7, B0CKD8, B0UL30, B1ICV9, B1LYI3, B1MWV2, B2IR58, B2S9V3, B3PUT6, B3W6R6, B4U153, B5E6A4, B5YEW7, B5ZWC8, B8E0J0, B8IED1, B8ZLD9, B9DVK2, B9JCB8, C0MB81, C0MEL9, C0R3A3, C0RHG1, C1C8C8, C1CFC0, C1CLN8

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
MRPS18C	“form complex”	“28S mitochondrial small ribosomal subunit”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 130 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
Mitochondrial translation	19	30.4×	3e-21
Mitochondrial translation initiation	19	28.0×	6e-21
Mitochondrial translation elongation	19	28.0×	6e-21
Mitochondrial ribosome-associated quality control	19	27.1×	9e-21
Mitochondrial translation termination	19	24.3×	7e-20
Translation	22	15.9×	4e-19
Peptide chain elongation	9	13.3×	6e-07
Viral mRNA Translation	9	13.3×	6e-07

GO biological processes:

GO term	Partners	Fold	FDR
mitochondrial translation	21	30.4×	5e-23
translation	19	16.3×	2e-15
cytoplasmic translation	9	13.9×	4e-06
rRNA processing	7	8.3×	4e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	15
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1365 predictions. Top by Δscore:

Variant	Effect	Δscore
4:83456056:G:GT	donor_gain	1.0000
4:83456105:G:GA	donor_gain	1.0000
4:83456116:G:GT	donor_gain	1.0000
4:83456176:GG:G	donor_gain	1.0000
4:83456177:GG:G	donor_gain	1.0000
4:83456903:TCGCA:T	acceptor_loss	1.0000
4:83456904:CGCAG:C	acceptor_loss	1.0000
4:83456907:A:AG	acceptor_gain	1.0000
4:83456907:AGT:A	acceptor_gain	1.0000
4:83456907:AGTG:A	acceptor_loss	1.0000
4:83456908:G:GA	acceptor_gain	1.0000
4:83456908:GT:G	acceptor_gain	1.0000
4:83456908:GTG:G	acceptor_gain	1.0000
4:83456908:GTGCT:G	acceptor_gain	1.0000
4:83456959:G:GG	donor_gain	1.0000
4:83458344:A:AG	acceptor_gain	1.0000
4:83458345:G:GG	acceptor_gain	1.0000
4:83458345:GCCC:G	acceptor_gain	1.0000
4:83459721:A:AG	acceptor_gain	1.0000
4:83459723:A:AG	acceptor_gain	1.0000
4:83459724:T:G	acceptor_gain	1.0000
4:83459725:A:AG	acceptor_gain	1.0000
4:83459726:A:G	acceptor_gain	1.0000
4:83460967:TTACA:T	acceptor_loss	1.0000
4:83460968:TACA:T	acceptor_loss	1.0000
4:83460969:ACAGG:A	acceptor_loss	1.0000
4:83460970:CA:C	acceptor_loss	1.0000
4:83460971:AGG:A	acceptor_loss	1.0000
4:83460972:G:A	acceptor_loss	1.0000
4:83463488:ACTT:A	donor_loss	1.0000

AlphaMissense

925 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
4:83458420:G:C	K75N	0.998
4:83458420:G:T	K75N	0.998
4:83459752:T:C	F83L	0.998
4:83459754:T:A	F83L	0.998
4:83459754:T:G	F83L	0.998
4:83459771:G:A	G89E	0.997
4:83461020:G:C	A114P	0.997
4:83461021:C:A	A114D	0.997
4:83459753:T:C	F83S	0.996
4:83461143:G:C	K125N	0.996
4:83461143:G:T	K125N	0.996
4:83459744:T:C	L80S	0.995
4:83459771:G:T	G89V	0.994
4:83461121:G:A	G118E	0.994
4:83461008:G:C	A110P	0.993
4:83461032:G:T	G118W	0.992
4:83459746:T:C	S81P	0.991
4:83459756:T:A	V84D	0.991
4:83461012:T:A	I111N	0.991
4:83459744:T:G	L80W	0.990
4:83459741:T:C	L79P	0.989
4:83460976:T:A	L99H	0.989
4:83461032:G:A	G118R	0.989
4:83461032:G:C	G118R	0.989
4:83459753:T:G	F83C	0.988
4:83460976:T:C	L99P	0.988
4:83460991:A:C	Q104P	0.988
4:83461016:G:C	K112N	0.988
4:83461016:G:T	K112N	0.988
4:83460978:T:C	C100R	0.987

dbSNP variants (sampled 300 via entrez): RS1000298100 (4:83459086 C>G,T), RS1001546832 (4:83460092 A>G), RS1001882506 (4:83458246 G>T), RS1001919987 (4:83457979 G>A), RS1002178162 (4:83460076 A>G), RS1002567013 (4:83456411 C>T), RS1003307043 (4:83455351 G>A), RS1003456050 (4:83461517 G>A), RS1003895186 (4:83461093 G>T), RS1004397906 (4:83458078 C>T), RS1004520178 (4:83458736 G>A), RS1004700753 (4:83457034 G>A,C), RS1004774844 (4:83458324 G>C), RS1005198891 (4:83461957 A>G), RS1005229888 (4:83461568 T>C)

Disease associations

OMIM: gene MIM:611983 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Leflunomide	decreases expression	2
dicrotophos	decreases expression	1
methylmercuric chloride	decreases expression	1
arsenite	affects binding, increases reaction	1
sodium arsenite	increases abundance, increases expression	1
isobutyl alcohol	affects cotreatment, decreases expression, increases abundance	1
di-n-butylphosphoric acid	affects expression	1
4-phenylbutyric acid	decreases expression	1
cylindrospermopsin	increases expression	1
CGP 52608	affects binding, increases reaction	1
K 7174	decreases expression	1
Grape Seed Proanthocyanidins	affects cotreatment, decreases expression	1
(+)-JQ1 compound	decreases expression	1
MT19c compound	increases expression	1
Acetaminophen	affects cotreatment, decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Arsenic	increases abundance, increases expression	1
Benzo(a)pyrene	increases methylation	1
Cadmium	increases expression, increases abundance	1
Cannabidiol	increases expression	1
Catechin	affects cotreatment, decreases expression	1
Gasoline	affects cotreatment, decreases expression, increases abundance	1
Lead	affects splicing	1
Lipopolysaccharides	affects cotreatment, decreases expression	1
Methyl Methanesulfonate	increases expression	1
Polycyclic Aromatic Hydrocarbons	decreases expression, increases abundance, affects cotreatment	1
Ribonucleotides	affects binding	1
Rotenone	decreases expression	1
Smoke	decreases expression, increases abundance	1
T-2 Toxin	increases expression	1

Clinical trials (associated diseases)

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