MRPS11

Summary

MRPS11 (mitochondrial ribosomal protein S11, HGNC:14050) is a protein-coding gene on chromosome 15q25.3, encoding Small ribosomal subunit protein uS11m (P82912). It is a selective cancer dependency (DepMap: 73.8% 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 contains a high level of sequence similarity with ribosomal protein S11P family members. A pseudogene corresponding to this gene is found on chromosome 20. Multiple transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 64963 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 39 total — 1 pathogenic
• Cancer dependency (DepMap): dependent in 73.8% of screened cell lines
• MANE Select transcript: NM_022839

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14050
Approved symbol	MRPS11
Name	mitochondrial ribosomal protein S11
Location	15q25.3
Locus type	gene with protein product
Status	Approved
Aliases	FLJ23406, HCC-2, FLJ22512, uS11m
Ensembl gene	ENSG00000181991
Ensembl biotype	protein_coding
OMIM	611977
Entrez	64963

Gene structure

Transcript identifiers

Ensembl transcripts: 19 — 10 protein_coding, 7 retained_intron, 1 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000325844, ENST00000353598, ENST00000557974, ENST00000558406, ENST00000558548, ENST00000559125, ENST00000559323, ENST00000559557, ENST00000560708, ENST00000560850, ENST00000561262, ENST00000892746, ENST00000892747, ENST00000915412, ENST00000915413, ENST00000915414, ENST00000915415, ENST00000958955, ENST00000958956

RefSeq mRNA: 6 — MANE Select: NM_022839 NM_001321970, NM_001321972, NM_001321973, NM_001321974, NM_022839, NM_176805

CCDS: CCDS10342, CCDS10343

Canonical transcript exons

ENST00000325844 — 6 exons

Exon	Start	End
ENSE00001268054	88477872	88480776
ENSE00003521205	88475110	88475239
ENSE00003528897	88472627	88472725
ENSE00003561493	88467908	88468024
ENSE00003612177	88476989	88477054
ENSE00003844252	88467708	88467782

Expression profiles

Bgee: expression breadth ubiquitous, 281 present calls, max score 96.71.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 89.2926 / max 638.9121, expressed in 1827 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
148277	77.4327	1825
148276	11.8410	1801
148278	0.0189	6

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
apex of heart	UBERON:0002098	96.71	gold quality
mucosa of transverse colon	UBERON:0004991	95.66	gold quality
heart left ventricle	UBERON:0002084	94.98	gold quality
left adrenal gland	UBERON:0001234	94.91	gold quality
right adrenal gland	UBERON:0001233	94.88	gold quality
right adrenal gland cortex	UBERON:0035827	94.78	gold quality
cardiac ventricle	UBERON:0002082	94.73	gold quality
left adrenal gland cortex	UBERON:0035825	94.72	gold quality
right lobe of thyroid gland	UBERON:0001119	94.52	gold quality
right atrium auricular region	UBERON:0006631	94.37	gold quality
hindlimb stylopod muscle	UBERON:0004252	94.19	gold quality
gastrocnemius	UBERON:0001388	94.04	gold quality
right lobe of liver	UBERON:0001114	93.96	gold quality
adrenal gland	UBERON:0002369	93.88	gold quality
adrenal cortex	UBERON:0001235	93.79	gold quality
left lobe of thyroid gland	UBERON:0001120	93.75	gold quality
muscle of leg	UBERON:0001383	93.75	gold quality
heart	UBERON:0000948	93.41	gold quality
cardiac atrium	UBERON:0002081	93.30	gold quality
prefrontal cortex	UBERON:0000451	93.15	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	93.10	gold quality
right frontal lobe	UBERON:0002810	92.73	gold quality
thyroid gland	UBERON:0002046	92.67	gold quality
lower esophagus mucosa	UBERON:0035834	92.56	gold quality
stromal cell of endometrium	CL:0002255	92.36	gold quality
adenohypophysis	UBERON:0002196	92.36	gold quality
transverse colon	UBERON:0001157	92.32	gold quality
nucleus accumbens	UBERON:0001882	92.16	gold quality
esophagus mucosa	UBERON:0002469	92.15	gold quality
metanephros cortex	UBERON:0010533	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	7.24

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

67 targeting MRPS11, 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-371B-5P	99.99	75.34	4759
HSA-MIR-10401-5P	99.99	65.79	948
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AH-3P	99.93	72.54	4872
HSA-MIR-548AM-3P	99.93	72.54	4872
HSA-MIR-548AQ-3P	99.93	72.66	4867
HSA-MIR-6780A-5P	99.88	66.69	2776
HSA-MIR-548D-3P	99.87	70.67	4362
HSA-MIR-548BB-3P	99.86	70.58	4354
HSA-MIR-548AC	99.84	70.77	4351
HSA-MIR-548H-3P	99.84	70.80	4349
HSA-MIR-548Z	99.84	70.80	4349
HSA-MIR-1825	99.72	68.11	1089
HSA-MIR-3059-5P	99.70	69.93	2491
HSA-MIR-519A-3P	99.67	71.67	1868
HSA-MIR-519B-3P	99.67	71.67	1868
HSA-MIR-519C-3P	99.67	71.67	1870
HSA-MIR-1287-3P	99.63	66.93	492
HSA-MIR-4649-3P	99.56	66.90	1783
HSA-MIR-4753-5P	99.54	68.51	1356
HSA-MIR-7106-5P	99.53	67.47	3574
HSA-MIR-216A-5P	99.50	68.02	1288
HSA-MIR-766-3P	99.47	65.24	1811
HSA-MIR-516A-3P	99.46	67.96	1378

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 73.8% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 1)

• The downregulated gene with the largest effect size in ankylosing spondylitis was mitochondrial ribosomal protein S11 (MRPS11). (Meta-analysis) (PMID:26125709)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	mrps11	ENSDARG00000075129
mus_musculus	Mrps11	ENSMUSG00000030611
rattus_norvegicus	Mrps11	ENSRNOG00000018531
rattus_norvegicus		ENSRNOG00000085276
drosophila_melanogaster	mRpS11	FBGN0038474
caenorhabditis_elegans		WBGENE00012244

Paralogs (1): RPS14 (ENSG00000164587)

Protein

Protein identifiers

Small ribosomal subunit protein uS11m — P82912 (reviewed: P82912)

Alternative names: 28S ribosomal protein S11, mitochondrial, Cervical cancer proto-oncogene 2 protein

All UniProt accessions (2): P82912, H0YL99

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.

Subcellular location. Mitochondrion.

Similarity. Belongs to the universal ribosomal protein uS11 family.

Isoforms (3)

UniProt ID	Names	Canonical?
P82912-1	1	yes
P82912-2	2
P82912-3	3

RefSeq proteins (4): NP_001308899, NP_001308901, NP_073750, NP_789775 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001971	Ribosomal_uS11	Family
IPR018102	Ribosomal_uS11_CS	Conserved_site
IPR036967	Ribosomal_uS11_sf	Homologous_superfamily

Pfam: PF00411

UniProt features (20 total): strand 7, helix 4, turn 2, splice variant 2, sequence variant 2, transit peptide 1, chain 1, sequence conflict 1

Structure

Experimental structures (PDB)

75 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
9OJM	ELECTRON MICROSCOPY	2.5
8CSR	ELECTRON MICROSCOPY	2.54
6ZM6	ELECTRON MICROSCOPY	2.59
7QI5	ELECTRON MICROSCOPY	2.63
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
9H54	ELECTRON MICROSCOPY	3

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P82912-F1	82.69	0.66

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): BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, GOBP_MITOCHONDRIAL_TRANSLATION, ACEVEDO_NORMAL_TISSUE_ADJACENT_TO_LIVER_TUMOR_DN, GOBP_TRANSLATION, GOMF_STRUCTURAL_CONSTITUENT_OF_RIBOSOME, MORF_PPP6C, GOCC_MITOCHONDRIAL_ENVELOPE, GARY_CD5_TARGETS_DN, DING_LUNG_CANCER_EXPRESSION_BY_COPY_NUMBER, 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 (3): RNA binding (GO:0003723), structural constituent of ribosome (GO:0003735), protein binding (GO:0005515)

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
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 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

4847 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MRPS11	MRPL21	Q7Z2W9	652
MRPS11	MRPL13	Q9BYD1	640
MRPS11	MRPS16	Q9Y3D3	618
MRPS11	MRPS12	O15235	617
MRPS11	MRPS14	O60783	617
MRPS11	MRPS2	Q9Y399	588
MRPS11	MRPS9	P82933	578
MRPS11	MRPL16	Q9NX20	575
MRPS11	MRPL11	Q9Y3B7	574
MRPS11	MRPS35	P82673	572
MRPS11	MRPL36	Q9P0J6	572
MRPS11	MTRF1	O75570	569
MRPS11	MRPS10	P82664	563
MRPS11	MRPS7	Q9Y2R9	561
MRPS11	MRPS15	P82914	559

IntAct

123 interactions, top by confidence:

A	B	Type	Score
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
MRPS27	MRPS14	psi-mi:“MI:0914”(association)	0.640
NAA10	MRPS11	psi-mi:“MI:0915”(physical association)	0.560
NP	KPNA6	psi-mi:“MI:0914”(association)	0.550
MRPS18B	MRPS14	psi-mi:“MI:0914”(association)	0.530
ZNF169	ZNF316	psi-mi:“MI:0914”(association)	0.530
ZNF331	USP9Y	psi-mi:“MI:0914”(association)	0.530
MRPS34	ZZEF1	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
MRPS18C	MRPS14	psi-mi:“MI:0914”(association)	0.530
TRMT10B	MRPS14	psi-mi:“MI:0914”(association)	0.530
ZFC3H1	HNRNPCL1	psi-mi:“MI:0914”(association)	0.530
IGF2BP3	PTCD1	psi-mi:“MI:0914”(association)	0.530
MRPS15	PRKACG	psi-mi:“MI:0914”(association)	0.530
MRPL2	GTPBP10	psi-mi:“MI:0914”(association)	0.530
MRPS11	MRPS14	psi-mi:“MI:0914”(association)	0.530
WDTC1	TCP1	psi-mi:“MI:0914”(association)	0.530
LIN28B	ZBTB24	psi-mi:“MI:0914”(association)	0.530
RPL19	ZBTB24	psi-mi:“MI:0914”(association)	0.530
HNRNPU	MRPS11	psi-mi:“MI:0914”(association)	0.530
ZNF460	ZNF324	psi-mi:“MI:0914”(association)	0.530
MRPS14	CBX6	psi-mi:“MI:0914”(association)	0.530
PRR3	MRPS14	psi-mi:“MI:0914”(association)	0.530
MRPS34	MRPS12	psi-mi:“MI:0914”(association)	0.530
AURKAIP1	NRDC	psi-mi:“MI:0914”(association)	0.480
MRPS11	SRPK2	psi-mi:“MI:0217”(phosphorylation reaction)	0.440

BioGRID (320): MRPS11 (Affinity Capture-MS), MRPS11 (Affinity Capture-MS), MRPS11 (Affinity Capture-MS), MRPS11 (Affinity Capture-MS), MRPS11 (Affinity Capture-MS), MRPS11 (Affinity Capture-MS), MRPS11 (Affinity Capture-MS), MRPS11 (Affinity Capture-MS), MRPS11 (Affinity Capture-MS), MRPS11 (Affinity Capture-MS), MRPS9 (Affinity Capture-MS), CUL4A (Affinity Capture-MS), PTCD3 (Affinity Capture-MS), MTIF2 (Affinity Capture-MS), DCAF5 (Affinity Capture-MS)

ESM2 similar proteins: A0Q4K5, A4G9R6, A4IZR2, A5ELK5, A6T3I1, A7N9U6, B0U0W8, B0U5M0, B2I8J0, B2SDW3, B3QBV7, O22795, P22798, P25873, P30956, P31164, P31165, P42732, P59755, P82163, P82191, P82195, P82245, P82278, P82413, P82912, Q07KP0, Q0BNQ6, Q0BYD6, Q134V1, Q14J98, Q1H4L4, Q1QN08, Q211H0, Q2A5E8, Q2IXN8, Q3SLM7, Q4FLN9, Q5NHU6, Q6N4V5

Diamond homologs: A0T0Z3, A1KB03, A2BTB6, A2CC50, A2SLD3, A3DA49, A3M961, A3PF26, A4J137, A4XLQ4, A5CXI7, A5EX96, A5FRX0, A5GIS3, A5GVY2, A5IV09, A5USG4, A6MW21, A6QJ67, A6U3V0, A6WHV1, A7HBP3, A7X5C5, A8YXM9, A8Z332, B0C431, B0JY39, B0K5R9, B0KCM6, B0V6U5, B0VQU1, B1I1B1, B2HZ85, B2SDW2, B3PK60, B4RT51, B5XJ61, B7GW25, B7IA16, B7K225

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
MRPS11	“form complex”	“28S mitochondrial small ribosomal subunit”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 139 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	16	23.4×	6e-16
Mitochondrial translation initiation	17	22.9×	2e-16
Mitochondrial translation elongation	17	22.9×	2e-16
Mitochondrial ribosome-associated quality control	17	22.2×	2e-16
Mitochondrial translation termination	17	19.9×	8e-16
Translation	21	13.9×	2e-16
Influenza Viral RNA Transcription and Replication	5	11.5×	5e-03
rRNA processing	6	9.3×	4e-03

GO biological processes:

GO term	Partners	Fold	FDR
mitochondrial translation	19	26.6×	2e-19
translation	15	12.4×	4e-10
regulation of alternative mRNA splicing, via spliceosome	6	11.8×	2e-03
ribosomal small subunit biogenesis	6	11.0×	2e-03
RNA processing	6	10.6×	2e-03
cytoplasmic translation	6	9.0×	5e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	30
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
393972	GRCh37/hg19 15q25.3-26.1(chr15:88295992-94215607)x1	Pathogenic

SpliceAI

1055 predictions. Top by Δscore:

Variant	Effect	Δscore
15:88467778:GCCGG:G	donor_gain	1.0000
15:88467824:GAC:G	donor_gain	1.0000
15:88468022:CAGGT:C	donor_loss	1.0000
15:88468023:AGGTG:A	donor_loss	1.0000
15:88468025:GTG:G	donor_loss	1.0000
15:88468026:T:G	donor_loss	1.0000
15:88475164:T:TA	acceptor_gain	1.0000
15:88476988:GA:G	acceptor_gain	1.0000
15:88476988:GAGA:G	acceptor_gain	1.0000
15:88477870:A:AG	acceptor_gain	1.0000
15:88477871:G:GG	acceptor_gain	1.0000
15:88477871:GTCT:G	acceptor_gain	1.0000
15:88467723:GGCT:G	donor_gain	0.9900
15:88467724:GCTG:G	donor_gain	0.9900
15:88467781:GG:G	donor_gain	0.9900
15:88467782:GG:G	donor_gain	0.9900
15:88472726:G:GG	donor_gain	0.9900
15:88475162:T:TA	acceptor_gain	0.9900
15:88476986:CAGAG:C	acceptor_gain	0.9900
15:88476987:A:AG	acceptor_gain	0.9900
15:88476987:AGAGA:A	acceptor_gain	0.9900
15:88476988:G:GG	acceptor_gain	0.9900
15:88476988:GAGAG:G	acceptor_gain	0.9900
15:88477871:GT:G	acceptor_gain	0.9900
15:88477871:GTC:G	acceptor_gain	0.9900
15:88468025:G:GG	donor_gain	0.9800
15:88472498:G:GT	donor_gain	0.9800
15:88472499:A:T	donor_gain	0.9800
15:88475165:G:A	acceptor_gain	0.9800
15:88475236:GGCG:G	donor_gain	0.9800

AlphaMissense

1247 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
15:88475177:T:C	F117L	0.993
15:88475179:T:A	F117L	0.993
15:88475179:T:G	F117L	0.993
15:88477914:T:C	S174P	0.980
15:88472701:C:A	A86E	0.978
15:88475223:G:A	G132D	0.978
15:88477023:T:A	V149D	0.978
15:88475178:T:C	F117S	0.977
15:88475234:G:C	A136P	0.976
15:88472682:T:C	F80L	0.975
15:88472684:T:A	F80L	0.975
15:88472684:T:G	F80L	0.975
15:88475164:T:G	C112W	0.973
15:88477020:G:C	R148P	0.971
15:88476992:G:C	A139P	0.967
15:88475219:G:C	A131P	0.964
15:88475163:G:A	C112Y	0.963
15:88475235:C:A	A136E	0.961
15:88476993:C:A	A139D	0.961
15:88472707:T:A	I88N	0.960
15:88477876:C:A	A161D	0.960
15:88475208:C:A	A127E	0.959
15:88477049:C:A	R158S	0.958
15:88475118:T:C	I97T	0.957
15:88475194:G:C	K122N	0.957
15:88475194:G:T	K122N	0.957
15:88477034:G:C	G153R	0.956
15:88475231:G:C	A135P	0.955
15:88477050:G:C	R158P	0.954
15:88477923:G:C	D177H	0.954

dbSNP variants (sampled 300 via entrez): RS1000088800 (15:88466395 T>G), RS1000183225 (15:88466131 A>C), RS1000251085 (15:88471184 A>G), RS1000348441 (15:88470266 G>T), RS1000397513 (15:88476705 G>A,T), RS1000574538 (15:88477181 C>T), RS1000631076 (15:88475681 A>T), RS1000681546 (15:88471641 A>C,G), RS1000789126 (15:88470945 C>A), RS1000852445 (15:88470564 A>C), RS1000984358 (15:88477460 G>A), RS1001278893 (15:88474704 T>C), RS1001440725 (15:88469415 C>T), RS1001708323 (15:88471630 TA>T), RS1001747901 (15:88469016 A>G)

Disease associations

OMIM: gene MIM:611977 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST004736_4	Familial hepatitis B virus-related hepatocellular carcinoma	7.000000e-06

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Acetaminophen	increases expression, decreases expression	3
bisphenol A	affects cotreatment, increases methylation, decreases expression	2
sodium arsenite	affects cotreatment, increases abundance, increases expression	2
Valproic Acid	affects expression, increases expression	2
aristolochic acid I	increases expression	1
bisphenol F	increases expression	1
arsenite	affects binding, increases reaction	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
cobaltous chloride	decreases expression	1
manganese chloride	affects cotreatment, increases abundance, increases expression	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
epigallocatechin gallate	decreases expression, affects cotreatment	1
perfluorooctane sulfonic acid	increases expression	1
CGP 52608	affects binding, increases reaction	1
corosolic acid	decreases expression	1
ICG 001	decreases expression	1
bisphenol B	increases expression	1
Fulvestrant	increases methylation, affects cotreatment	1
Arsenic	affects cotreatment, increases abundance, increases expression	1
Atrazine	decreases expression	1
Benzo(a)pyrene	increases expression	1
Cisplatin	increases expression	1
Dexamethasone	affects cotreatment, decreases expression	1
Indomethacin	affects cotreatment, decreases expression	1
Ivermectin	decreases expression	1
Lead	affects splicing	1
Manganese	affects cotreatment, increases abundance, increases expression	1
Ribonucleotides	affects binding	1
1-Methyl-3-isobutylxanthine	affects cotreatment, decreases expression	1
Metribolone	increases expression	1

Clinical trials (associated diseases)

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