MRPS5

Summary

MRPS5 (mitochondrial ribosomal protein S5, HGNC:14498) is a protein-coding gene on chromosome 2q11.1, encoding Small ribosomal subunit protein uS5m (P82675). It is a selective cancer dependency (DepMap: 76.7% 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 S5P family. Pseudogenes corresponding to this gene are found on chromosomes 4q, 5q, and 18q.

Source: NCBI Gene 64969 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 89 total
• Cancer dependency (DepMap): dependent in 76.7% of screened cell lines
• MANE Select transcript: NM_031902

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14498
Approved symbol	MRPS5
Name	mitochondrial ribosomal protein S5
Location	2q11.1
Locus type	gene with protein product
Status	Approved
Aliases	MRP-S5, S5mt, uS5m
Ensembl gene	ENSG00000144029
Ensembl biotype	protein_coding
OMIM	611972
Entrez	64969

Gene structure

Transcript identifiers

Ensembl transcripts: 20 — 10 protein_coding, 7 retained_intron, 3 nonsense_mediated_decay

ENST00000272418, ENST00000345084, ENST00000461916, ENST00000464458, ENST00000475895, ENST00000482568, ENST00000482821, ENST00000695432, ENST00000695433, ENST00000695434, ENST00000695435, ENST00000695436, ENST00000695437, ENST00000695439, ENST00000695440, ENST00000882059, ENST00000882060, ENST00000882061, ENST00000969116, ENST00000969117

RefSeq mRNA: 4 — MANE Select: NM_031902 NM_001321995, NM_001321996, NM_001321997, NM_031902

CCDS: CCDS2010, CCDS92806

Canonical transcript exons

ENST00000272418 — 12 exons

Exon	Start	End
ENSE00001157988	95104640	95104730
ENSE00001209696	95121734	95121808
ENSE00001759959	95085369	95087581
ENSE00003485302	95115066	95115203
ENSE00003526822	95117865	95117945
ENSE00003599088	95109916	95110041
ENSE00003628820	95100474	95100536
ENSE00003642914	95100837	95100894
ENSE00003644676	95101677	95101723
ENSE00003645611	95090386	95090522
ENSE00003674407	95108175	95108408
ENSE00003681498	95106423	95106457

Expression profiles

Bgee: expression breadth ubiquitous, 265 present calls, max score 98.47.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 38.1417 / max 181.6420, expressed in 1822 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
29685	24.4749	1814
29688	5.2215	1656
29689	4.2096	1579
29687	1.8527	1072
29686	1.2776	852
29690	0.7905	563
29684	0.3150	129

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left ventricle myocardium	UBERON:0006566	98.47	gold quality
cardiac muscle of right atrium	UBERON:0003379	97.80	gold quality
kidney epithelium	UBERON:0004819	97.62	gold quality
cerebellar hemisphere	UBERON:0002245	97.57	gold quality
right hemisphere of cerebellum	UBERON:0014890	97.45	gold quality
cerebellar cortex	UBERON:0002129	97.43	gold quality
cerebellum	UBERON:0002037	97.15	gold quality
mucosa of transverse colon	UBERON:0004991	96.81	gold quality
ileal mucosa	UBERON:0000331	96.21	gold quality
epithelial cell of pancreas	CL:0000083	96.18	gold quality
tibialis anterior	UBERON:0001385	96.09	gold quality
heart left ventricle	UBERON:0002084	96.09	gold quality
apex of heart	UBERON:0002098	96.08	gold quality
cardiac ventricle	UBERON:0002082	95.98	gold quality
myocardium	UBERON:0002349	95.76	gold quality
metanephros cortex	UBERON:0010533	95.72	gold quality
cardiac atrium	UBERON:0002081	95.64	gold quality
right lobe of liver	UBERON:0001114	95.61	gold quality
cortex of kidney	UBERON:0001225	95.60	gold quality
right atrium auricular region	UBERON:0006631	95.55	gold quality
lower esophagus mucosa	UBERON:0035834	95.49	gold quality
gastrocnemius	UBERON:0001388	95.46	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	95.41	gold quality
renal medulla	UBERON:0000362	95.36	gold quality
heart	UBERON:0000948	95.27	gold quality
transverse colon	UBERON:0001157	95.24	gold quality
muscle of leg	UBERON:0001383	95.23	gold quality
right frontal lobe	UBERON:0002810	95.20	gold quality
deltoid	UBERON:0001476	95.19	gold quality
Brodmann (1909) area 9	UBERON:0013540	95.18	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	13.03
E-MTAB-6058	no	16.90

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

86 targeting MRPS5, 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-5011-5P	100.00	83.46	5820
HSA-MIR-432-3P	100.00	67.86	705
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-4666A-3P	99.96	71.71	3434
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-545-3P	99.95	70.74	2783
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-381-3P	99.93	71.87	2854
HSA-MIR-515-5P	99.92	69.82	2343
HSA-MIR-519E-5P	99.92	69.62	2358
HSA-MIR-300	99.92	71.76	2856
HSA-MIR-6508-5P	99.92	70.67	2465
HSA-MIR-3686	99.90	70.53	2432
HSA-MIR-4731-5P	99.89	67.23	2537

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 76.7% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 2)

• Data demonstrated that while ribosomal proteins S16 and S5 is able to bind to the 18S rRNA independently, their simultaneous binding has a noticeable synergetic effect. (PMID:19559069)
• Mutation V336Y in MRPS5 confers mitoribosomal misreading in in organello translation. (PMID:30237157)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	mrps5	ENSDARG00000062209
mus_musculus	Mrps5	ENSMUSG00000027374
rattus_norvegicus	Mrps5	ENSRNOG00000015192
drosophila_melanogaster	mRpS5	FBGN0287187
caenorhabditis_elegans		WBGENE00008452

Paralogs (1): RPS2 (ENSG00000140988)

Protein

Protein identifiers

Small ribosomal subunit protein uS5m — P82675 (reviewed: P82675)

Alternative names: 28S ribosomal protein S5, mitochondrial

All UniProt accessions (5): P82675, A0A8Q3SHY8, A0A8Q3SIP9, A0A8Q3WKG3, A0A8Q3WKL2

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.

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

Similarity. Belongs to the universal ribosomal protein uS5 family.

Isoforms (2)

UniProt ID	Names	Canonical?
P82675-1	1	yes
P82675-2	2

RefSeq proteins (4): NP_001308924, NP_001308925, NP_001308926, NP_114108* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000851	Ribosomal_uS5	Family
IPR005324	Ribosomal_uS5_C	Domain
IPR013810	Ribosomal_uS5_N	Domain
IPR014721	Ribsml_uS5_D2-typ_fold_subgr	Homologous_superfamily
IPR018192	Ribosomal_uS5_N_CS	Conserved_site
IPR020568	Ribosomal_Su5_D2-typ_SF	Homologous_superfamily
IPR048584	Ribosomal_uS5m_N	Domain

Pfam: PF00333, PF03719, PF21251

UniProt features (31 total): strand 12, helix 10, turn 5, splice variant 2, chain 1, domain 1

Structure

Experimental structures (PDB)

77 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
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

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P82675-F1	82.77	0.68

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: 100 (showing top): GSE45365_NK_CELL_VS_BCELL_DN, GCM_GSPT1, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, GOBP_MITOCHONDRIAL_TRANSLATION, GOBP_TRANSLATION, GOMF_STRUCTURAL_CONSTITUENT_OF_RIBOSOME, GOCC_MITOCHONDRIAL_ENVELOPE, BYSTRYKH_HEMATOPOIESIS_STEM_CELL_AND_BRAIN_QTL_TRANS, GCM_NF2, 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): RNA binding (GO:0003723), structural constituent of ribosome (GO:0003735)

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
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

5100 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MRPS5	MRPS9	P82933	773
MRPS5	MRPS16	Q9Y3D3	702
MRPS5	MRPS2	Q9Y399	663
MRPS5	MRPS27	Q92552	652
MRPS5	MRPS7	Q9Y2R9	620
MRPS5	DARS2	Q6PI48	612
MRPS5	MRPS25	P82663	608
MRPS5	MRPS15	P82914	574
MRPS5	MRPS14	O60783	540
MRPS5	MRPS10	P82664	533
MRPS5	DAP3	P51398	521
MRPS5	MRPS6	P82932	517
MRPS5	RANBP6	O60518	514
MRPS5	AGFG2	O95081	511
MRPS5	MRPL21	Q7Z2W9	511

IntAct

232 interactions, top by confidence:

A	B	Type	Score
FBL	NOP56	psi-mi:“MI:0914”(association)	0.800
YBX1	HNRNPR	psi-mi:“MI:0914”(association)	0.770
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
rep	MPHOSPH10	psi-mi:“MI:0914”(association)	0.660
NP	KPNA6	psi-mi:“MI:0914”(association)	0.550
RPS6	IPO7	psi-mi:“MI:0914”(association)	0.530
ZNF331	USP9Y	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
MRPS15	MRPS14	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
RPF1	ZNF324	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
ZNF324B	ZNF316	psi-mi:“MI:0914”(association)	0.530
ZNF689	ZNF593	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
ZFC3H1	HNRNPCL1	psi-mi:“MI:0914”(association)	0.530
ZNF556	LRP4	psi-mi:“MI:0914”(association)	0.530

BioGRID (429): MRPS5 (Affinity Capture-RNA), MRPS5 (Affinity Capture-RNA), MRPS5 (Affinity Capture-MS), MRPS5 (Affinity Capture-MS), MRPS5 (Affinity Capture-MS), MRPS5 (Affinity Capture-MS), MRPS5 (Affinity Capture-MS), MRPS5 (Affinity Capture-MS), MRPS5 (Affinity Capture-MS), MRPS5 (Affinity Capture-MS), MRPS5 (Affinity Capture-MS), MRPS5 (Affinity Capture-MS), MRPS5 (Affinity Capture-MS), MRPS5 (Affinity Capture-MS), MRPS5 (Affinity Capture-MS)

ESM2 similar proteins: A6QPQ5, A9X1A9, O95707, P0C2C1, P82664, P82670, P82675, P82915, P82919, P82933, Q08BI9, Q0P5E7, Q0VFH6, Q2KIB9, Q2KID9, Q2KIJ6, Q2TBK2, Q2TBR2, Q3MHY7, Q3SYS0, Q3T040, Q58DQ5, Q58DV5, Q5C9Z4, Q5R7B0, Q5REJ1, Q5REY4, Q5RFM3, Q641X9, Q7Z2W9, Q7Z7H8, Q8N3Z3, Q8TCC3, Q924T2, Q99N85, Q99N87, Q99N94, Q9BSH4, Q9BYD2, Q9BYD6

Diamond homologs: A0JZ68, A0KF38, A0L5Z0, A0LIK7, A0LRN7, A1ALV8, A1R8S9, A1S235, A1SNK1, A3Q999, A4J128, A4QBL3, A4SSY9, A5D5H1, A6W5V5, A7H0Z5, A7HWS8, A7ZFZ5, A8Y3Q1, A9W4S3, B1MGC5, B1Z776, B2IK79, B3E847, B4U761, B7L0T3, B8ELE6, B8ZSA2, C0ZW43, C1B029, C5C0H4, O33000, O67563, P47414, P82675, Q0AUJ7, Q0S3F9, Q1QDG9, Q28UT7, Q2KID9

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
MRPS5	“form complex”	“28S mitochondrial small ribosomal subunit”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 212 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	22	21.0×	7e-21
Mitochondrial translation initiation	22	19.4×	2e-20
Mitochondrial translation elongation	22	19.4×	2e-20
Mitochondrial ribosome-associated quality control	22	18.8×	3e-20
Mitochondrial translation termination	22	16.8×	3e-19
Transport of Mature Transcript to Cytoplasm	5	13.2×	8e-04
Translation	26	11.2×	2e-18
Peptide chain elongation	10	8.8×	1e-05

GO biological processes:

GO term	Partners	Fold	FDR
mitochondrial translation	24	21.5×	1e-22
negative regulation of mRNA splicing, via spliceosome	5	19.7×	1e-03
translation	20	10.6×	2e-12
cytoplasmic translation	11	10.5×	3e-06
RNA processing	7	7.9×	5e-03
positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	12	4.8×	2e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	56
Likely benign	6
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1921 predictions. Top by Δscore:

Variant	Effect	Δscore
2:95087582:C:CC	acceptor_gain	1.0000
2:95100535:TA:T	acceptor_gain	1.0000
2:95100537:C:CC	acceptor_gain	1.0000
2:95100835:A:AC	donor_gain	1.0000
2:95100836:C:CC	donor_gain	1.0000
2:95101675:A:AC	donor_gain	1.0000
2:95101676:C:CC	donor_gain	1.0000
2:95101679:T:A	donor_gain	1.0000
2:95104803:T:TA	donor_gain	1.0000
2:95108215:T:TA	donor_gain	1.0000
2:95108236:T:TA	donor_gain	1.0000
2:95108244:C:CA	donor_gain	1.0000
2:95111019:C:CT	acceptor_gain	1.0000
2:95111021:C:CT	acceptor_gain	1.0000
2:95115093:A:AC	donor_gain	1.0000
2:95115094:C:CC	donor_gain	1.0000
2:95115094:CTG:C	donor_gain	1.0000
2:95087577:GTTTC:G	acceptor_gain	0.9900
2:95087578:TTTC:T	acceptor_gain	0.9900
2:95087579:TTC:T	acceptor_gain	0.9900
2:95087580:TC:T	acceptor_gain	0.9900
2:95087581:CC:C	acceptor_gain	0.9900
2:95087587:C:CT	acceptor_gain	0.9900
2:95087588:A:T	acceptor_gain	0.9900
2:95090380:GATTA:G	donor_loss	0.9900
2:95090381:ATTAC:A	donor_loss	0.9900
2:95090385:CCTGT:C	donor_gain	0.9900
2:95090519:TAACC:T	acceptor_loss	0.9900
2:95090520:AACC:A	acceptor_loss	0.9900
2:95090522:CCTAG:C	acceptor_loss	0.9900

AlphaMissense

2810 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:95090506:G:C	C316W	0.994
2:95108235:A:G	W193R	0.994
2:95108235:A:T	W193R	0.994
2:95090484:A:G	C324R	0.992
2:95106441:A:C	F218L	0.991
2:95106441:A:T	F218L	0.991
2:95106443:A:G	F218L	0.991
2:95090482:G:C	C324W	0.990
2:95100536:A:T	I290K	0.990
2:95100882:C:G	A275P	0.990
2:95100894:C:G	A271P	0.990
2:95104660:C:T	G248E	0.990
2:95104675:A:T	V243D	0.989
2:95108233:C:A	W193C	0.989
2:95108233:C:G	W193C	0.989
2:95090453:G:T	A334D	0.988
2:95090507:C:T	C316Y	0.988
2:95090508:A:G	C316R	0.988
2:95104660:C:A	G248V	0.988
2:95104656:G:C	N249K	0.987
2:95104656:G:T	N249K	0.987
2:95104661:C:A	G248W	0.987
2:95108391:A:G	W141R	0.987
2:95108391:A:T	W141R	0.987
2:95087562:G:T	A363D	0.986
2:95104666:G:T	A246D	0.986
2:95090483:C:T	C324Y	0.985
2:95087563:C:G	A363P	0.983
2:95100881:G:T	A275E	0.983
2:95101719:A:C	F256L	0.983

dbSNP variants (sampled 300 via entrez): RS1000079492 (2:95115625 T>A,G), RS1000146057 (2:95122835 C>T), RS1000229494 (2:95109502 T>A,G), RS1000307074 (2:95116228 T>A), RS1000566149 (2:95103569 A>C), RS1000619726 (2:95115967 C>T), RS1000627115 (2:95096519 C>A,T), RS1000741185 (2:95096996 G>A,C), RS1000854014 (2:95103322 G>A,C), RS1001021083 (2:95121111 G>A,C), RS1001091434 (2:95090264 T>C), RS1001161092 (2:95099198 G>A), RS1001460111 (2:95093026 G>A), RS1001470989 (2:95086920 C>T), RS1001587004 (2:95087325 G>A)

Disease associations

OMIM: gene MIM:611972 | 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

26 total (human), top 26 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, decreases expression	3
sodium arsenite	affects cotreatment, increases abundance, increases expression, decreases expression	2
Acetaminophen	decreases expression	2
Arsenic	decreases expression, affects cotreatment, increases abundance, increases expression	2
bisphenol F	affects cotreatment, decreases expression	1
bisphenol A	affects expression	1
trichostatin A	affects expression	1
arsenite	affects binding, increases reaction	1
manganese chloride	increases abundance, increases expression, affects cotreatment	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
ICG 001	decreases expression	1
Bortezomib	decreases expression	1
Vorinostat	decreases expression	1
Atrazine	increases expression	1
Caffeine	increases expression	1
Dexamethasone	affects cotreatment, decreases expression	1
Dinitrochlorobenzene	affects binding	1
Hydralazine	affects cotreatment, increases expression	1
Indomethacin	affects cotreatment, decreases expression	1
Manganese	affects cotreatment, increases abundance, increases expression	1
Phthalic Acids	increases methylation	1
Ribonucleotides	affects binding	1
Tunicamycin	increases expression	1
1-Methyl-3-isobutylxanthine	affects cotreatment, decreases expression	1
Cadmium Chloride	decreases expression	1

Clinical trials (associated diseases)

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