MRPL43

Summary

MRPL43 (mitochondrial ribosomal protein L43, HGNC:14517) is a protein-coding gene on chromosome 10q24.31, encoding Large ribosomal subunit protein mL43 (Q8N983). It is a selective cancer dependency (DepMap: 77.2% 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 39S subunit protein. This gene and the gene for a semaphorin class 4 protein (SEMA4G) overlap at map location 10q24.31 and are transcribed in opposite directions. Sequence analysis identified multiple transcript variants encoding at least four different protein isoforms.

Source: NCBI Gene 84545 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 145 total
• Cancer dependency (DepMap): dependent in 77.2% of screened cell lines
• MANE Select transcript: NM_032112

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14517
Approved symbol	MRPL43
Name	mitochondrial ribosomal protein L43
Location	10q24.31
Locus type	gene with protein product
Status	Approved
Aliases	bMRP36a, mL43
Ensembl gene	ENSG00000055950
Ensembl biotype	protein_coding
OMIM	611848
Entrez	84545

Gene structure

Transcript identifiers

Ensembl transcripts: 17 — 14 protein_coding, 2 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000299179, ENST00000318325, ENST00000318364, ENST00000342071, ENST00000370234, ENST00000370236, ENST00000370241, ENST00000370242, ENST00000448244, ENST00000476012, ENST00000477279, ENST00000487059, ENST00000493646, ENST00000523148, ENST00000858454, ENST00000915453, ENST00000952360

RefSeq mRNA: 8 — MANE Select: NM_032112 NM_001308396, NM_001394981, NM_001394982, NM_001394983, NM_032112, NM_176792, NM_176793, NM_176794

CCDS: CCDS7502, CCDS7503, CCDS7504, CCDS7505, CCDS76331, CCDS91321, CCDS91322

Canonical transcript exons

ENST00000318364 — 3 exons

Exon	Start	End
ENSE00001277968	100987090	100987196
ENSE00001900571	100987313	100987497
ENSE00003548935	100986269	100986975

Expression profiles

Bgee: expression breadth ubiquitous, 262 present calls, max score 97.41.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 81.6297 / max 282.3576, expressed in 1826 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
111072	79.8758	1825
111069	1.2701	815
111070	0.3619	139
111071	0.1219	22

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
pancreatic ductal cell	CL:0002079	97.41	gold quality
left testis	UBERON:0004533	97.09	gold quality
right testis	UBERON:0004534	96.85	gold quality
hindlimb stylopod muscle	UBERON:0004252	96.74	gold quality
right adrenal gland	UBERON:0001233	96.66	gold quality
right adrenal gland cortex	UBERON:0035827	96.55	gold quality
left adrenal gland cortex	UBERON:0035825	96.52	gold quality
left adrenal gland	UBERON:0001234	96.46	gold quality
kidney epithelium	UBERON:0004819	96.43	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	96.40	gold quality
upper arm skin	UBERON:0004263	96.32	gold quality
right uterine tube	UBERON:0001302	96.19	gold quality
adrenal cortex	UBERON:0001235	96.16	gold quality
gastrocnemius	UBERON:0001388	96.12	gold quality
muscle of leg	UBERON:0001383	96.11	gold quality
body of pancreas	UBERON:0001150	96.07	gold quality
endocervix	UBERON:0000458	96.02	gold quality
mucosa of transverse colon	UBERON:0004991	96.01	gold quality
left lobe of thyroid gland	UBERON:0001120	96.00	gold quality
left ovary	UBERON:0002119	95.95	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	95.95	gold quality
mucosa of stomach	UBERON:0001199	95.92	gold quality
right lobe of thyroid gland	UBERON:0001119	95.86	gold quality
testis	UBERON:0000473	95.83	gold quality
body of stomach	UBERON:0001161	95.83	gold quality
lower esophagus	UBERON:0013473	95.81	gold quality
muscle layer of sigmoid colon	UBERON:0035805	95.81	gold quality
lower esophagus muscularis layer	UBERON:0035833	95.81	gold quality
right ovary	UBERON:0002118	95.77	gold quality
spinal cord	UBERON:0002240	95.75	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	12.66

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

24 targeting MRPL43, 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-106A-5P	99.90	73.94	2683
HSA-MIR-17-5P	99.89	73.83	2665
HSA-MIR-106B-5P	99.88	74.72	2795
HSA-MIR-20A-5P	99.88	74.76	2769
HSA-MIR-20B-5P	99.88	74.01	2621
HSA-MIR-519D-3P	99.88	73.97	2607
HSA-MIR-526B-3P	99.88	74.06	2587
HSA-MIR-93-5P	99.88	73.98	2606
HSA-MIR-448	99.79	72.37	2103
HSA-MIR-3617-5P	99.75	69.41	1968
HSA-MIR-641	99.75	69.35	1975
HSA-MIR-5004-3P	99.54	68.27	1371
HSA-MIR-377-3P	99.37	70.18	1905
HSA-MIR-548AS-3P	99.12	69.12	2294
HSA-MIR-153-3P	98.96	72.51	1644
HSA-MIR-4501	98.72	67.19	921
HSA-MIR-1261	98.62	68.10	896
HSA-MIR-1304-3P	98.29	66.44	1207
HSA-MIR-6072	98.00	66.47	804
HSA-MIR-649	97.96	67.21	704
HSA-MIR-6800-3P	96.15	65.16	461
HSA-MIR-6891-3P	95.80	65.76	683
HSA-MIR-6813-3P	95.78	63.78	540
HSA-MIR-6808-3P	94.13	65.24	516

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 77.2% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 3)

• miR-608 rs4919510 Polymorphism May Affect Susceptibility to Colorectal Cancer by Upregulating MRPL43 Expression. (PMID:33147064)
• Antagonistic regulatory effects of a single cis-acting expression quantitative trait locus between transcription and translation of the MRPL43 gene. (PMID:35659240)
• Network-based meta-analysis and the candidate gene association studies reveal novel ethnicity-specific variants in MFSD3 and MRPL43 associated with dementia with Lewy bodies. (PMID:35765761)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	mrpl43	ENSDARG00000076334
mus_musculus	Mrpl43	ENSMUSG00000025208
rattus_norvegicus	Mrpl43	ENSRNOG00000014890
drosophila_melanogaster	mRpL43	FBGN0034893
caenorhabditis_elegans	mrpl-34	WBGENE00007712

Protein

Protein identifiers

Large ribosomal subunit protein mL43 — Q8N983 (reviewed: Q8N983)

Alternative names: 39S ribosomal protein L43, mitochondrial, Mitochondrial ribosomal protein bMRP36a

All UniProt accessions (5): B1AL05, Q8N983, H0Y6Y8, H0YBU8, M0R051

UniProt curated annotations — full annotation on UniProt →

Subunit / interactions. Component of the mitochondrial large ribosomal subunit (mt-LSU). 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.

Subcellular location. Mitochondrion.

Tissue specificity. High relative levels in skeletal muscle and testis. Lower levels of expression in the heart, brain, placenta, lung, liver, kidney, pancreas, spleen, thymus, prostate, ovary, small intestine, colon and leukocytes. Expression is coregulated with TWNK.

Similarity. Belongs to the mitochondrion-specific ribosomal protein mL43 family.

Isoforms (6)

UniProt ID	Names	Canonical?
Q8N983-1	1	yes
Q8N983-2	2
Q8N983-3	3
Q8N983-4	4
Q8N983-6	5
Q8N983-7	6

RefSeq proteins (8): NP_001295325, NP_001381910, NP_001381911, NP_001381912, NP_115488, NP_789762, NP_789763, NP_789764 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR007741	Ribosomal_mL43/mS25/NADH_DH	Domain
IPR036249	Thioredoxin-like_sf	Homologous_superfamily
IPR039927	Ribosomal_mL43	Family

Pfam: PF05047

UniProt features (26 total): strand 9, splice variant 7, helix 5, turn 3, transit peptide 1, chain 1

Structure

Experimental structures (PDB)

85 structures, top 30 by resolution.

PDB	Method	Resolution (Å)
7OF0	ELECTRON MICROSCOPY	2.2
7QI4	ELECTRON MICROSCOPY	2.21
8RRI	ELECTRON MICROSCOPY	2.4
8QU5	ELECTRON MICROSCOPY	2.42
9OLF	ELECTRON MICROSCOPY	2.46
7OF7	ELECTRON MICROSCOPY	2.5
7PO4	ELECTRON MICROSCOPY	2.56
6ZM6	ELECTRON MICROSCOPY	2.59
7O9M	ELECTRON MICROSCOPY	2.6
7OF6	ELECTRON MICROSCOPY	2.6
9CN3	ELECTRON MICROSCOPY	2.62
7QI5	ELECTRON MICROSCOPY	2.63
7OF2	ELECTRON MICROSCOPY	2.7
7OF3	ELECTRON MICROSCOPY	2.7
7OF4	ELECTRON MICROSCOPY	2.7
9PR4	ELECTRON MICROSCOPY	2.77
9PRA	ELECTRON MICROSCOPY	2.83
8ANY	ELECTRON MICROSCOPY	2.85
6ZM5	ELECTRON MICROSCOPY	2.89
7QH7	ELECTRON MICROSCOPY	2.89
7ODR	ELECTRON MICROSCOPY	2.9
7OF5	ELECTRON MICROSCOPY	2.9
8K2A	ELECTRON MICROSCOPY	2.9
8OIT	ELECTRON MICROSCOPY	2.9
9PGL	ELECTRON MICROSCOPY	2.9
9PGF	ELECTRON MICROSCOPY	2.93
6VMI	ELECTRON MICROSCOPY	2.96
6VLZ	ELECTRON MICROSCOPY	2.97
7QI6	ELECTRON MICROSCOPY	2.98
9PSM	ELECTRON MICROSCOPY	2.98

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8N983-F1	84.03	0.70

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: 88 (showing top): GOBP_MITOCHONDRIAL_TRANSLATION, GOBP_TRANSLATION, GGAANCGGAANY_UNKNOWN, GOMF_STRUCTURAL_CONSTITUENT_OF_RIBOSOME, GOCC_MITOCHONDRIAL_ENVELOPE, TANAKA_METHYLATED_IN_ESOPHAGEAL_CARCINOMA, HNF1_C, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN, GOCC_LARGE_RIBOSOMAL_SUBUNIT, GOCC_RIBOSOME, MOREAUX_MULTIPLE_MYELOMA_BY_TACI_DN, GOCC_ORGANELLAR_RIBOSOME, GOCC_MITOCHONDRIAL_MATRIX, GOCC_ORGANELLE_INNER_MEMBRANE, YAO_TEMPORAL_RESPONSE_TO_PROGESTERONE_CLUSTER_7

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

GO Molecular Function (3): RNA binding (GO:0003723), structural constituent of ribosome (GO:0003735), protein binding (GO:0005515)

GO Cellular Component (6): mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), mitochondrial ribosome (GO:0005761), mitochondrial large ribosomal subunit (GO:0005762), 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
nucleic acid binding	1
structural molecule activity	1
ribosome	1
binding	1
cytoplasm	1
intracellular membrane-bounded organelle	1
organelle inner membrane	1
mitochondrial membrane	1
organellar ribosome	1
mitochondrial matrix	1
organellar large ribosomal subunit	1
mitochondrial ribosome	1
mitochondrial protein-containing complex	1
intracellular membraneless organelle	1
protein-containing complex	1

Protein interactions and networks

STRING

2514 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MRPL43	TWNK	Q96RR1	806
MRPL43	SORCS3	Q9UPU3	806
MRPL43	MRPL34	Q9BQ48	581
MRPL43	ZNF688	P0C7X2	497
MRPL43	SLC25A4	P12235	497
MRPL43	MRPS2	Q9Y399	496
MRPL43	POLG	P54098	494
MRPL43	MRPS10	P82664	491
MRPL43	MRPL49	Q13405	484
MRPL43	MRPL55	Q7Z7F7	484
MRPL43	MRPL13	Q9BYD1	480
MRPL43	MRPS21	P82921	476
MRPL43	RPL35A	P18077	470
MRPL43	MRPL41	Q8IXM3	446
MRPL43	RPL9	P32969	433

IntAct

88 interactions, top by confidence:

A	B	Type	Score
YBX1	HNRNPR	psi-mi:“MI:0914”(association)	0.770
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
MRPL43	FXR2	psi-mi:“MI:0915”(physical association)	0.560
FXR2	MRPL43	psi-mi:“MI:0915”(physical association)	0.560
NP	KPNA6	psi-mi:“MI:0914”(association)	0.550
RPS6	IPO7	psi-mi:“MI:0914”(association)	0.530
MRPL50	GTPBP10	psi-mi:“MI:0914”(association)	0.530
MRPL13	GTPBP10	psi-mi:“MI:0914”(association)	0.530
MRPL18	GTPBP10	psi-mi:“MI:0914”(association)	0.530
MRPL2	GTPBP10	psi-mi:“MI:0914”(association)	0.530
VCAM1	PSMD11	psi-mi:“MI:0914”(association)	0.530
NDUFAB1	MIEF1	psi-mi:“MI:0915”(physical association)	0.490
VASP	MRPL43	psi-mi:“MI:0407”(direct interaction)	0.440
MRPL43	SRPK1	psi-mi:“MI:0217”(phosphorylation reaction)	0.440
Ybx1	MRPS18B	psi-mi:“MI:0915”(physical association)	0.400
MRPL43		psi-mi:“MI:0915”(physical association)	0.370
ALYREF		psi-mi:“MI:0914”(association)	0.350
CAND1	GTPBP10	psi-mi:“MI:0914”(association)	0.350
COPS5	FBLL1	psi-mi:“MI:0914”(association)	0.350
LRRK2		psi-mi:“MI:0914”(association)	0.350
TFAM	MRPS14	psi-mi:“MI:0914”(association)	0.350
SSBP1	MRPS14	psi-mi:“MI:0914”(association)	0.350
ATAD3A	TMEM223	psi-mi:“MI:0914”(association)	0.350
PXN	GAK	psi-mi:“MI:0914”(association)	0.350
PRKCI	POLRMT	psi-mi:“MI:0914”(association)	0.350
ARHGAP27	MCRIP1	psi-mi:“MI:0914”(association)	0.350
H1-6	SRSF10	psi-mi:“MI:0914”(association)	0.350

BioGRID (211): MRPL43 (Two-hybrid), NACC1 (Affinity Capture-MS), SLK (Affinity Capture-MS), MRPL39 (Affinity Capture-MS), GLS (Affinity Capture-MS), MRPL44 (Affinity Capture-MS), MRPL20 (Affinity Capture-MS), NDUFAF5 (Affinity Capture-MS), MRPL4 (Affinity Capture-MS), MRPL42 (Affinity Capture-MS), MALSU1 (Affinity Capture-MS), MRPS30 (Affinity Capture-MS), MRPL43 (Affinity Capture-MS), MRPL43 (Affinity Capture-MS), MRPL43 (Affinity Capture-MS)

ESM2 similar proteins: A4IFR8, A4IG66, C0SPG1, D3Z8Y2, D4A039, K7SGN7, O09111, P49406, P82913, P82914, P82918, P83565, Q0MQJ3, Q0MQJ4, Q0MQJ5, Q12766, Q12789, Q1XHY1, Q2HJI0, Q2TBI6, Q32L09, Q58D79, Q5R8M4, Q5R8S0, Q5TM62, Q6P1H6, Q767K8, Q768S4, Q7Z7J5, Q8C008, Q8CAK3, Q8HXG5, Q8N163, Q8N983, Q8ND04, Q8TF30, Q8VDP4, Q99N84, Q99N85, Q9DC71

Diamond homologs: Q8N983, Q95KE5, Q99N89, Q9UUC8, Q7S300, Q06090, Q5A3J1, Q758S3

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
MRPL43	“form complex”	“39S mitochondrial large ribosomal subunit”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 89 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 ribosome-associated quality control	27	46.7×	5e-37
Mitochondrial translation initiation	25	44.7×	7e-34
Mitochondrial translation elongation	25	44.7×	7e-34
Mitochondrial translation	23	44.6×	4e-31
Mitochondrial translation termination	25	38.7×	3e-32
Translation	25	21.9×	1e-25
Mitochondrial protein degradation	6	9.7×	2e-03

GO biological processes:

GO term	Partners	Fold	FDR
mitochondrial translation	25	53.0×	1e-34
translation	18	22.6×	2e-17

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	122
Likely benign	2
Benign	4

Top pathogenic / likely-pathogenic (0)

SpliceAI

2312 predictions. Top by Δscore:

Variant	Effect	Δscore
10:100977630:A:AG	acceptor_gain	1.0000
10:100977630:AGAC:A	acceptor_gain	1.0000
10:100977631:G:GG	acceptor_gain	1.0000
10:100977631:GACG:G	acceptor_gain	1.0000
10:100977731:G:GG	donor_gain	1.0000
10:100978289:CCCTA:C	acceptor_loss	1.0000
10:100978293:A:AG	acceptor_gain	1.0000
10:100978293:AG:A	acceptor_gain	1.0000
10:100978293:AGGAT:A	acceptor_gain	1.0000
10:100978294:G:GA	acceptor_gain	1.0000
10:100978294:GG:G	acceptor_gain	1.0000
10:100978294:GGA:G	acceptor_gain	1.0000
10:100978294:GGAT:G	acceptor_gain	1.0000
10:100978294:GGATG:G	acceptor_gain	1.0000
10:100978388:GGTG:G	donor_loss	1.0000
10:100978389:G:GA	donor_loss	1.0000
10:100978389:G:GG	donor_gain	1.0000
10:100978390:T:G	donor_loss	1.0000
10:100978950:G:GT	donor_gain	1.0000
10:100979100:AG:A	acceptor_gain	1.0000
10:100979101:GG:G	acceptor_gain	1.0000
10:100979101:GGGA:G	acceptor_gain	1.0000
10:100979229:GCC:G	donor_gain	1.0000
10:100979258:C:G	donor_gain	1.0000
10:100979269:GTG:G	donor_gain	1.0000
10:100979844:CTAGG:C	acceptor_loss	1.0000
10:100979845:TA:T	acceptor_loss	1.0000
10:100979846:A:AG	acceptor_gain	1.0000
10:100979846:A:C	acceptor_loss	1.0000
10:100979846:AG:A	acceptor_gain	1.0000

AlphaMissense

1026 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
10:100986826:A:G	W130R	0.997
10:100986826:A:T	W130R	0.997
10:100986839:G:C	S125R	0.997
10:100986839:G:T	S125R	0.997
10:100986841:T:G	S125R	0.997
10:100986824:C:A	W130C	0.995
10:100986824:C:G	W130C	0.995
10:100987414:G:C	F10L	0.994
10:100987414:G:T	F10L	0.994
10:100987416:A:G	F10L	0.994
10:100987098:G:T	A77D	0.992
10:100987190:G:C	F46L	0.992
10:100987190:G:T	F46L	0.992
10:100987192:A:G	F46L	0.992
10:100987092:T:G	Y79S	0.990
10:100987093:A:C	Y79D	0.989
10:100987164:G:T	A55D	0.989
10:100987361:C:G	R28P	0.989
10:100987362:G:T	R28S	0.988
10:100987140:A:T	I63K	0.987
10:100987191:A:G	F46S	0.987
10:100987352:A:G	F31S	0.987
10:100987093:A:G	Y79H	0.986
10:100986825:C:A	W130L	0.985
10:100987167:A:G	F54S	0.985
10:100986825:C:G	W130S	0.984
10:100987099:C:G	A77P	0.984
10:100987391:C:T	G18E	0.984
10:100986833:C:A	Q127H	0.983
10:100986833:C:G	Q127H	0.983

dbSNP variants (sampled 300 via entrez): RS1000263318 (10:100980496 A>G), RS1000469814 (10:100986024 G>T), RS1000734618 (10:100987112 C>A,T), RS1001463681 (10:100986729 A>G), RS1001745445 (10:100985696 A>G,T), RS1001831379 (10:100986972 T>C,G), RS1002588925 (10:100977830 G>A), RS1003167771 (10:100984188 C>T), RS1003712073 (10:100982598 C>G), RS1003743134 (10:100982311 G>A), RS1003774635 (10:100987998 G>C), RS1003924220 (10:100988126 A>C,G), RS1004112787 (10:100983123 C>T), RS1004280892 (10:100983000 C>A,G), RS1004659697 (10:100978295 G>A,C)

Disease associations

OMIM: gene MIM:611848 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST006921_7	Regular attendance at a pub or social club	1.000000e-08
GCST010002_298	Refractive error	3.000000e-22
GCST011878_8	Mitochondrial heteroplasmy measurement	3.000000e-12

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0009592	social interaction measurement
EFO:0600008	mitochondrial heteroplasmy measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

18 total (human), top 18 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Acetaminophen	affects cotreatment, decreases expression	3
Valproic Acid	increases methylation, increases expression	3
FR900359	increases phosphorylation	1
beta-lapachone	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
bisphenol S	decreases methylation	1
Vorinostat	increases expression	1
Air Pollutants	decreases expression, increases abundance	1
Atrazine	increases expression	1
Dimethyl Sulfoxide	affects expression	1
Ivermectin	decreases expression	1
Lipopolysaccharides	affects cotreatment, decreases expression	1
Ribonucleotides	affects binding	1
Smoke	decreases expression	1
Thiram	decreases expression	1
Copper Sulfate	decreases expression	1
Particulate Matter	increases abundance, decreases expression	1

Clinical trials (associated diseases)

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