MRPL17

gene
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Also known as RPML26MRP-L26bL17m

Summary

MRPL17 (mitochondrial ribosomal protein L17, HGNC:14053) is a protein-coding gene on chromosome 11p15.4, encoding Large ribosomal subunit protein bL17m (Q9NRX2). It is a selective cancer dependency (DepMap: 49.7% 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 39S subunit protein.

Source: NCBI Gene 63875 — RefSeq curated summary.

At a glance

  • GWAS associations: 3
  • Clinical variants (ClinVar): 39 total
  • Cancer dependency (DepMap): dependent in 49.7% of screened cell lines
  • MANE Select transcript: NM_022061

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:14053
Approved symbolMRPL17
Namemitochondrial ribosomal protein L17
Location11p15.4
Locus typegene with protein product
StatusApproved
AliasesRPML26, MRP-L26, bL17m
Ensembl geneENSG00000158042
Ensembl biotypeprotein_coding
OMIM611830
Entrez63875

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 5 protein_coding, 1 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000288937, ENST00000529958, ENST00000532203, ENST00000532676, ENST00000921844, ENST00000921845, ENST00000921846

RefSeq mRNA: 1 — MANE Select: NM_022061 NM_022061

CCDS: CCDS31412

Canonical transcript exons

ENST00000288937 — 3 exons

ExonStartEnd
ENSE0000103673366827476682815
ENSE0000118839166803856682402
ENSE0000122010666831236683340

Expression profiles

Bgee: expression breadth ubiquitous, 260 present calls, max score 96.48.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 49.6270 / max 178.9909, expressed in 1821 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter IDTPM avgSamples expressed
11845849.62701821

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
stromal cell of endometriumCL:000225596.48gold quality
apex of heartUBERON:000209895.02gold quality
adenohypophysisUBERON:000219694.21gold quality
left adrenal glandUBERON:000123494.00gold quality
heart right ventricleUBERON:000208093.82gold quality
right adrenal glandUBERON:000123393.75gold quality
left adrenal gland cortexUBERON:003582593.66gold quality
pituitary glandUBERON:000000793.57gold quality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099193.47gold quality
right adrenal gland cortexUBERON:003582793.35gold quality
hindlimb stylopod muscleUBERON:000425293.17gold quality
periodontal ligamentUBERON:000826693.07gold quality
heart left ventricleUBERON:000208492.75gold quality
adrenal glandUBERON:000236992.74gold quality
adrenal cortexUBERON:000123592.70gold quality
cardiac ventricleUBERON:000208292.63gold quality
mucosa of transverse colonUBERON:000499192.15gold quality
prefrontal cortexUBERON:000045192.10gold quality
ventricular zoneUBERON:000305391.89gold quality
islet of LangerhansUBERON:000000691.76gold quality
parotid glandUBERON:000183191.68silver quality
heartUBERON:000094891.46gold quality
adult mammalian kidneyUBERON:000008291.38gold quality
right atrium auricular regionUBERON:000663191.35gold quality
cartilage tissueUBERON:000241891.33gold quality
gall bladderUBERON:000211091.27gold quality
ganglionic eminenceUBERON:000402391.14gold quality
body of pancreasUBERON:000115090.47gold quality
cardiac atriumUBERON:000208190.28gold quality
gastrocnemiusUBERON:000138890.24gold quality

Single-cell (SCXA)

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

ExperimentMarker?Max mean expression
E-ANND-3yes7.71

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): CTCF

miRNA regulators (miRDB)

78 targeting MRPL17, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-4533100.0069.482758
HSA-MIR-190A-3P100.0080.355520
HSA-MIR-5011-5P100.0083.465820
HSA-MIR-4476100.0068.182030
HSA-MIR-6876-5P100.0067.682126
HSA-MIR-1252-5P100.0069.802774
HSA-MIR-4682100.0068.891258
HSA-MIR-4768-5P100.0069.492861
HSA-MIR-6798-5P100.0065.77699
HSA-MIR-4425100.0067.591049
HSA-MIR-6833-3P100.0070.633197
HSA-MIR-569699.9872.364487
HSA-MIR-314899.9775.066478
HSA-MIR-365899.9673.874379
HSA-MIR-651-3P99.9473.485177
HSA-MIR-205-3P99.9269.923165
HSA-MIR-568299.8972.561005
HSA-MIR-6715A-3P99.8368.051473
HSA-MIR-4639-5P99.8167.371028
HSA-MIR-465899.7764.94514
HSA-MIR-6790-5P99.7765.24505
HSA-MIR-7856-5P99.7569.992901
HSA-MIR-6505-5P99.7369.251595
HSA-MIR-4699-3P99.7170.153142
HSA-MIR-548BA99.6969.141514
HSA-MIR-7161-5P99.6868.921592
HSA-MIR-548U99.6567.781463
HSA-MIR-449999.6267.291470
HSA-MIR-6513-3P99.5969.771102
HSA-MIR-6832-5P99.5864.821132

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 49.7% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 1)

  • High levels of LIP2 were found in serum and synovial fluid of rheumatoid arthritis patients, providing evidence for a cytokine-like role. (PMID:18162190)

Cross-species orthologs

4 orthologs

OrganismSymbolGene ID
danio_reriomrpl17ENSDARG00000075677
mus_musculusMrpl17ENSMUSG00000030879
rattus_norvegicusMrpl17ENSRNOG00000019497
caenorhabditis_elegansmrpl-17WBGENE00021829

Protein

Protein identifiers

Large ribosomal subunit protein bL17mQ9NRX2 (reviewed: Q9NRX2)

Alternative names: 39S ribosomal protein L17, mitochondrial, LYST-interacting protein 2

All UniProt accessions (2): E9PKV2, Q9NRX2

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. Detected in adrenal gland, mammary gland and adipose tissue.

Similarity. Belongs to the bacterial ribosomal protein bL17 family.

RefSeq proteins (1): NP_071344* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR000456Ribosomal_bL17Family
IPR036373Ribosomal_bL17_sfHomologous_superfamily

Pfam: PF01196

UniProt features (17 total): helix 6, strand 5, transit peptide 1, chain 1, turn 1, region of interest 1, compositionally biased region 1, sequence conflict 1

Structure

Experimental structures (PDB)

87 structures, top 30 by resolution.

PDBMethodResolution (Å)
7OF0ELECTRON MICROSCOPY2.2
7QI4ELECTRON MICROSCOPY2.21
8RRIELECTRON MICROSCOPY2.4
8QU5ELECTRON MICROSCOPY2.42
9OLFELECTRON MICROSCOPY2.46
7OF7ELECTRON MICROSCOPY2.5
7PO4ELECTRON MICROSCOPY2.56
6ZM6ELECTRON MICROSCOPY2.59
7O9MELECTRON MICROSCOPY2.6
7OF6ELECTRON MICROSCOPY2.6
9CN3ELECTRON MICROSCOPY2.62
7QI5ELECTRON MICROSCOPY2.63
7OF2ELECTRON MICROSCOPY2.7
7OF3ELECTRON MICROSCOPY2.7
7OF4ELECTRON MICROSCOPY2.7
8QU1ELECTRON MICROSCOPY2.74
9PR4ELECTRON MICROSCOPY2.77
9PRAELECTRON MICROSCOPY2.83
8ANYELECTRON MICROSCOPY2.85
6ZM5ELECTRON MICROSCOPY2.89
7QH7ELECTRON MICROSCOPY2.89
7ODRELECTRON MICROSCOPY2.9
7OF5ELECTRON MICROSCOPY2.9
8K2AELECTRON MICROSCOPY2.9
8OITELECTRON MICROSCOPY2.9
9PGLELECTRON MICROSCOPY2.9
9PGFELECTRON MICROSCOPY2.93
6VMIELECTRON MICROSCOPY2.96
6VLZELECTRON MICROSCOPY2.97
7QI6ELECTRON MICROSCOPY2.98

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q9NRX2-F193.510.87

Function

Pathways and Gene Ontology

Reactome pathways

7 pathways

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

MSigDB gene sets: 154 (showing top): TONKS_TARGETS_OF_RUNX1_RUNX1T1_FUSION_MONOCYTE_UP, HONMA_DOCETAXEL_RESISTANCE, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOBP_MITOCHONDRIAL_TRANSLATION, GOBP_TRANSLATION, GOMF_STRUCTURAL_CONSTITUENT_OF_RIBOSOME, GOCC_MITOCHONDRIAL_ENVELOPE, PU1_Q6, FISCHER_DREAM_TARGETS, RASHI_RESPONSE_TO_IONIZING_RADIATION_5, GRADE_COLON_AND_RECTAL_CANCER_UP, GOCC_LARGE_RIBOSOMAL_SUBUNIT, GOCC_RIBOSOME, GOCC_ORGANELLAR_RIBOSOME

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

GO Molecular Function (3): structural constituent of ribosome (GO:0003735), protein domain specific binding (GO:0019904), protein binding (GO:0005515)

GO Cellular Component (5): mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), mitochondrial large ribosomal subunit (GO:0005762), ribosome (GO:0005840), ribonucleoprotein complex (GO:1990904)

Reactome top-level categories

Rollup of top-3 pathways:

CategoryPathways
Mitochondrial translation4
Translation1
Metabolism of proteins1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
mitochondrion1
translation1
mitochondrial gene expression1
peptidyltransferase activity1
translational initiation1
translational elongation1
translational termination1
macromolecule biosynthetic process1
protein metabolic process1
protein biosynthetic process1
structural molecule activity1
ribosome1
protein binding1
binding1
cytoplasm1
intracellular membrane-bounded organelle1
organelle inner membrane1
mitochondrial membrane1
organellar large ribosomal subunit1
mitochondrial ribosome1
mitochondrial protein-containing complex1
intracellular membraneless organelle1
protein-containing complex1

Protein interactions and networks

STRING

2995 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
MRPL17MRPL24Q96A35753
MRPL17MRPL11Q9Y3B7745
MRPL17MRPL4Q9BYD3708
MRPL17MRPL21Q7Z2W9704
MRPL17MRPL16Q9NX20666
MRPL17MRPL36Q9P0J6647
MRPL17MRPL12P52815645
MRPL17MRPL13Q9BYD1644
MRPL17MRPL19P49406627
MRPL17MRPS12O15235607
MRPL17MRPL32Q9BYC8593
MRPL17MRPL33O75394578
MRPL17MRPL45Q9BRJ2555
MRPL17MRPL9Q9BYD2542
MRPL17MRPS16Q9Y3D3542

IntAct

139 interactions, top by confidence:

ABTypeScore
MIS12ZWINTpsi-mi:“MI:0914”(association)0.900
YBX1SSBpsi-mi:“MI:0914”(association)0.710
MRPS30GTPBP10psi-mi:“MI:0914”(association)0.640
LIN28AIGF2BP3psi-mi:“MI:0914”(association)0.640
HNRNPFMRPL17psi-mi:“MI:0915”(physical association)0.560
UBTD2MRPL17psi-mi:“MI:0915”(physical association)0.560
NPKPNA6psi-mi:“MI:0914”(association)0.550
MRPL50GTPBP10psi-mi:“MI:0914”(association)0.530
ZNF324BZNF316psi-mi:“MI:0914”(association)0.530
RPL18NOP56psi-mi:“MI:0914”(association)0.530
MRPL10ZZEF1psi-mi:“MI:0914”(association)0.530
MRPL42GATCpsi-mi:“MI:0914”(association)0.530
RSPRY1NEFLpsi-mi:“MI:0914”(association)0.530
MRPL28MRPL3psi-mi:“MI:0914”(association)0.530
MRPL41MRPL3psi-mi:“MI:0914”(association)0.530
MRPL2GTPBP10psi-mi:“MI:0914”(association)0.530
NGRNRPL7psi-mi:“MI:0914”(association)0.530
MRPL13GTPBP10psi-mi:“MI:0914”(association)0.530
MRPL18GTPBP10psi-mi:“MI:0914”(association)0.530
MRPL27MRPL33psi-mi:“MI:0914”(association)0.530
NDUFAB1MIEF1psi-mi:“MI:0915”(physical association)0.490
HCCSMROH1psi-mi:“MI:0914”(association)0.350
UBA5P4HA1psi-mi:“MI:0914”(association)0.350
BAG6CNOT1psi-mi:“MI:0914”(association)0.350
MRPL50MRPL43psi-mi:“MI:0914”(association)0.350

BioGRID (205): MRPL17 (Affinity Capture-MS), MRPL17 (Affinity Capture-MS), MRPL17 (Affinity Capture-MS), MRPL17 (Affinity Capture-MS), MRPL17 (Affinity Capture-MS), MRPL17 (Affinity Capture-MS), MRPL17 (Affinity Capture-MS), MRPL17 (Affinity Capture-MS), MRPL17 (Co-fractionation), MRPL17 (Co-fractionation), MRPL17 (Co-fractionation), MRPL17 (Co-fractionation), MRPL17 (Co-fractionation), MRPL17 (Co-fractionation), MRPL17 (Co-fractionation)

ESM2 similar proteins: A0BD73, A0CEY2, A3DJK2, A5GFQ0, B3CT30, B6YQ59, O14006, O42991, O43004, O49885, O65055, O74464, O94150, O94345, P0DJ15, P22353, P26785, P38064, P38120, P47150, Q04PW6, Q10129, Q1K8C8, Q27389, Q3T0L3, Q54TY5, Q5AB87, Q5RAH8, Q5RCA3, Q60R52, Q6BIJ5, Q6CFK6, Q6CJ65, Q6FL25, Q6PDW6, Q72NI9, Q7S5N0, Q95Q11, Q9D8P4, Q9FKC0

Diamond homologs: A0LIL8, A0PXX6, A1ALW8, A1USR9, A1W1J8, A3PGN6, A4IJL5, A4J140, A4XLQ1, A4YSL7, A5D5F0, A5ELK2, A5FZU0, A5GAU7, A5I7H6, A5N4S6, A6LPU1, A6Q1K5, A6TWF2, A7FZ43, A7GJ44, A7HBP6, A7HWT6, A7IPP5, A8FNQ8, A8LM82, A8MLH0, B0K5S2, B0KCM9, B1I1B4, B1IGC4, B1KSJ5, B2IF97, B2TIK5, B2UYE0, B3E858, B3QB18, B4R8P2, B4U773, B5YG21

SIGNOR signaling

1 interactions.

AEffectBMechanism
MRPL17“form complex”“39S mitochondrial large ribosomal subunit”binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 129 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:

PathwayPartnersFoldFDR
Mitochondrial ribosome-associated quality control3545.2×2e-48
Mitochondrial translation3043.5×4e-41
Mitochondrial translation initiation3242.7×2e-43
Mitochondrial translation elongation3242.7×2e-43
Mitochondrial translation termination3237.0×3e-41
Translation3220.9×1e-32
Peptide chain elongation1114.7×7e-09
Viral mRNA Translation1114.7×7e-09

GO biological processes:

GO termPartnersFoldFDR
mitochondrial translation3553.3×4e-50
translation2623.4×3e-26
cytoplasmic translation1117.9×4e-09
negative regulation of translation813.8×1e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance32
Likely benign3
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

194 predictions. Top by Δscore:

VariantEffectΔscore
11:6682400:CTC:Cacceptor_gain1.0000
11:6682403:CTA:Cacceptor_loss1.0000
11:6682742:CTCA:Cdonor_gain1.0000
11:6682743:TCA:Tdonor_loss1.0000
11:6682744:CACTG:Cdonor_loss1.0000
11:6682745:A:ACdonor_gain1.0000
11:6682745:AC:Adonor_loss1.0000
11:6682746:C:CCdonor_gain1.0000
11:6682746:CT:Cdonor_gain1.0000
11:6682746:CTG:Cdonor_gain1.0000
11:6683117:CCTCA:Cdonor_loss1.0000
11:6683118:CTCA:Cdonor_loss1.0000
11:6683119:TCA:Tdonor_loss1.0000
11:6683120:CA:Cdonor_loss1.0000
11:6683121:ACCTT:Adonor_loss1.0000
11:6682401:TC:Tacceptor_gain0.9900
11:6682402:CC:Cacceptor_gain0.9900
11:6682403:C:CCacceptor_gain0.9900
11:6682404:T:Aacceptor_loss0.9900
11:6682740:CACT:Cdonor_loss0.9900
11:6682741:A:ACdonor_gain0.9900
11:6682742:C:CCdonor_gain0.9900
11:6682746:CTGT:Cdonor_gain0.9900
11:6682746:CTGTG:Cdonor_gain0.9900
11:6682845:C:CTacceptor_gain0.9900
11:6682846:G:Tacceptor_gain0.9900
11:6683121:A:ACdonor_gain0.9900
11:6683122:C:CCdonor_gain0.9900
11:6683122:CCTT:Cdonor_gain0.9900
11:6683134:AGCC:Adonor_gain0.9900

AlphaMissense

1135 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
11:6682376:A:CF90L0.989
11:6682376:A:TF90L0.989
11:6682378:A:GF90L0.989
11:6682756:G:CF78L0.986
11:6682756:G:TF78L0.986
11:6682758:A:GF78L0.986
11:6683178:T:AE40V0.986
11:6682802:C:TG63E0.984
11:6682751:A:GL80P0.982
11:6682803:C:AG63W0.982
11:6683208:C:GR30P0.980
11:6682382:C:AK88N0.979
11:6682382:C:GK88N0.979
11:6682755:A:GW79R0.979
11:6682755:A:TW79R0.979
11:6683131:C:GA56P0.979
11:6683130:G:TA56E0.978
11:6682284:G:TA121E0.977
11:6682763:G:TA76D0.977
11:6682814:A:GL59P0.977
11:6682285:C:GA121P0.976
11:6682751:A:TL80H0.976
11:6683175:C:GR41P0.976
11:6682814:A:TL59H0.974
11:6683142:A:CM52R0.971
11:6683176:G:TR41S0.970
11:6682377:A:GF90S0.967
11:6682278:A:TI123N0.966
11:6682764:C:GA76P0.966
11:6683142:A:TM52K0.966

dbSNP variants (sampled 300 via entrez): RS1000018626 (11:6681222 C>T), RS1000046549 (11:6681463 T>A,C), RS1001069451 (11:6682366 CCAGT>C), RS1001473790 (11:6680455 G>T), RS1001631815 (11:6680780 C>A,G), RS1003233793 (11:6683737 G>A), RS1003266776 (11:6684034 T>C), RS1003298026 (11:6684317 C>T), RS1004169316 (11:6681647 T>TC), RS1004263215 (11:6681911 G>A,C), RS1004586642 (11:6682017 C>G,T), RS1005546082 (11:6681814 C>G,T), RS1005553707 (11:6683046 G>A,C), RS1005976124 (11:6680735 G>T), RS1006046341 (11:6685223 G>T)

Disease associations

OMIM: gene MIM:611830 | 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):

StudyTraitp-value
GCST010725_20Malaria4.000000e-69
GCST010725_33Malaria2.000000e-67
GCST010725_51Malaria1.000000e-55

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

27 total (human), top 27 by PubMed support.

ChemicalActions (top 5)PubMed papers
sodium arseniteaffects splicing, decreases expression, increases expression3
cobaltous chloridedecreases expression2
arseniteaffects binding, increases reaction1
di-n-butylphosphoric acidaffects expression1
K 7174decreases expression1
ICG 001increases expression1
2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidinedecreases expression, increases response to substance1
3-(2-hydroxy-4-(2-methylnonan-2-yl)phenyl)cyclohexan-1-oldecreases expression1
bisphenol AFincreases expression1
Resveratrolaffects cotreatment, increases expression1
Sunitinibincreases expression1
Arsenic Trioxideincreases expression1
Acetaminophenaffects cotreatment, affects expression, decreases expression1
Ivermectindecreases expression1
Lipopolysaccharidesaffects cotreatment, affects expression1
Plant Extractsaffects cotreatment, increases expression1
Ribonucleotidesaffects binding1
Smokedecreases expression1
Tetrachlorodibenzodioxinaffects expression1
Dronabinoldecreases expression1
Thiramdecreases expression1
Tobacco Smoke Pollutionincreases expression1
Urethanedecreases expression1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxidedecreases expression1
Cyclosporinedecreases expression1
Sodium Seleniteincreases expression1
Copper Sulfatedecreases expression1

Clinical trials (associated diseases)

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

  • Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): malaria