RPS24 (ribosomal protein S24)

Gene

• Entrez ID: 6229
• Gene name: Ribosomal protein S24
• Gene symbol: RPS24
• Synonyms (NCBI Gene): DBA3, S24, eS24
• Chromosome: 10
• Chromosome location: 10q22.3
• Summary: Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal pro

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs104894188	C>T	Pathogenic	Stop gained, coding sequence variant
rs104894189	C>T	Pathogenic	Stop gained, coding sequence variant
rs116840806	AAC>TACGGATAG	Pathogenic	Inframe indel, stop gained, coding sequence variant
rs886039545	A>G	Pathogenic	Missense variant, initiator codon variant
rs1554841994	A>C	Pathogenic	Missense variant, coding sequence variant
rs1589326484	GT>-	Pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT052586	hsa-let-7a-5p	CLASH	23622248
MIRT052586	hsa-let-7a-5p	CLASH	23622248
MIRT052260	hsa-let-7b-5p	CLASH	23622248
MIRT052260	hsa-let-7b-5p	CLASH	23622248
MIRT051855	hsa-let-7c-5p	CLASH	23622248
MIRT051083	hsa-miR-16-5p	CLASH	23622248
MIRT051083	hsa-miR-16-5p	CLASH	23622248
MIRT050119	hsa-miR-26a-5p	CLASH	23622248
MIRT050035	hsa-miR-27a-3p	CLASH	23622248
MIRT048929	hsa-miR-92a-3p	CLASH	23622248
MIRT046852	hsa-miR-221-3p	CLASH	23622248
MIRT046852	hsa-miR-221-3p	CLASH	23622248
MIRT046221	hsa-miR-27b-3p	CLASH	23622248
MIRT046221	hsa-miR-27b-3p	CLASH	23622248
MIRT045854	hsa-miR-128-3p	CLASH	23622248
MIRT041663	hsa-miR-484	CLASH	23622248
MIRT041663	hsa-miR-484	CLASH	23622248
MIRT716442	hsa-miR-451b	HITS-CLIP	19536157
MIRT716441	hsa-miR-3973	HITS-CLIP	19536157
MIRT716440	hsa-miR-10b-3p	HITS-CLIP	19536157
MIRT716439	hsa-miR-145-3p	HITS-CLIP	19536157
MIRT716438	hsa-miR-4766-3p	HITS-CLIP	19536157
MIRT716437	hsa-miR-6828-5p	HITS-CLIP	19536157
MIRT700000	hsa-miR-483-3p	HITS-CLIP	23313552
MIRT245626	hsa-miR-4668-3p	HITS-CLIP	23313552
MIRT699999	hsa-miR-409-3p	HITS-CLIP	23313552
MIRT699998	hsa-miR-33a-3p	HITS-CLIP	23313552
MIRT245624	hsa-miR-3677-5p	HITS-CLIP	23313552
MIRT045854	hsa-miR-128-3p	HITS-CLIP	23313552
MIRT245621	hsa-miR-216a-3p	HITS-CLIP	23313552
MIRT245625	hsa-miR-3681-3p	HITS-CLIP	23313552
MIRT699997	hsa-miR-3065-3p	HITS-CLIP	23313552
MIRT245628	hsa-miR-5693	HITS-CLIP	23313552
MIRT699996	hsa-miR-4317	HITS-CLIP	23313552
MIRT699995	hsa-miR-140-3p	HITS-CLIP	23313552
MIRT699994	hsa-miR-103a-3p	HITS-CLIP	23313552
MIRT699993	hsa-miR-107	HITS-CLIP	23313552
MIRT699992	hsa-miR-7974	HITS-CLIP	23313552
MIRT699991	hsa-miR-2116-5p	HITS-CLIP	23313552
MIRT699990	hsa-miR-22-5p	HITS-CLIP	23313552
MIRT699989	hsa-miR-7156-3p	HITS-CLIP	23313552
MIRT699988	hsa-miR-1301-3p	HITS-CLIP	23313552
MIRT699987	hsa-miR-5047	HITS-CLIP	23313552
MIRT245627	hsa-miR-4701-5p	HITS-CLIP	23313552
MIRT245622	hsa-miR-588	HITS-CLIP	23313552
MIRT263519	hsa-miR-4677-5p	HITS-CLIP	23313552
MIRT468946	hsa-miR-3125	PAR-CLIP	23592263
MIRT468945	hsa-miR-3916	PAR-CLIP	23592263
MIRT468944	hsa-miR-6859-5p	PAR-CLIP	23592263
MIRT468942	hsa-miR-4779	PAR-CLIP	23592263
MIRT468943	hsa-miR-4436b-3p	PAR-CLIP	23592263
MIRT468941	hsa-miR-4632-5p	PAR-CLIP	23592263
MIRT468940	hsa-miR-6735-5p	PAR-CLIP	23592263
MIRT468939	hsa-miR-6879-5p	PAR-CLIP	23592263
MIRT468938	hsa-miR-7843-5p	PAR-CLIP	23592263
MIRT468937	hsa-miR-3927-3p	PAR-CLIP	23592263
MIRT468936	hsa-miR-6831-5p	PAR-CLIP	23592263
MIRT468935	hsa-miR-3616-3p	PAR-CLIP	23592263
MIRT468934	hsa-miR-6804-5p	PAR-CLIP	23592263
MIRT468933	hsa-miR-4736	PAR-CLIP	23592263
MIRT468931	hsa-miR-6721-5p	PAR-CLIP	23592263
MIRT468932	hsa-miR-609	PAR-CLIP	23592263
MIRT468930	hsa-miR-4451	PAR-CLIP	23592263
MIRT468929	hsa-miR-4694-5p	PAR-CLIP	23592263
MIRT468928	hsa-miR-3152-3p	PAR-CLIP	23592263
MIRT468927	hsa-miR-877-5p	PAR-CLIP	23592263
MIRT045854	hsa-miR-128-3p	PAR-CLIP	27292025
MIRT699995	hsa-miR-140-3p	PAR-CLIP	27292025
MIRT699991	hsa-miR-2116-5p	PAR-CLIP	27292025
MIRT245621	hsa-miR-216a-3p	PAR-CLIP	27292025
MIRT699990	hsa-miR-22-5p	PAR-CLIP	27292025
MIRT699998	hsa-miR-33a-3p	PAR-CLIP	27292025
MIRT245624	hsa-miR-3677-5p	PAR-CLIP	27292025
MIRT245625	hsa-miR-3681-3p	PAR-CLIP	27292025
MIRT699999	hsa-miR-409-3p	PAR-CLIP	27292025
MIRT245626	hsa-miR-4668-3p	PAR-CLIP	27292025
MIRT263519	hsa-miR-4677-5p	PAR-CLIP	27292025
MIRT245627	hsa-miR-4701-5p	PAR-CLIP	27292025
MIRT245628	hsa-miR-5693	PAR-CLIP	27292025
MIRT245622	hsa-miR-588	PAR-CLIP	27292025
MIRT716442	hsa-miR-451b	HITS-CLIP	19536157
MIRT716441	hsa-miR-3973	HITS-CLIP	19536157
MIRT716440	hsa-miR-10b-3p	HITS-CLIP	19536157
MIRT716439	hsa-miR-145-3p	HITS-CLIP	19536157
MIRT716438	hsa-miR-4766-3p	HITS-CLIP	19536157
MIRT716437	hsa-miR-6828-5p	HITS-CLIP	19536157
MIRT700000	hsa-miR-483-3p	HITS-CLIP	23313552
MIRT245626	hsa-miR-4668-3p	HITS-CLIP	23313552
MIRT699999	hsa-miR-409-3p	HITS-CLIP	23313552
MIRT699998	hsa-miR-33a-3p	HITS-CLIP	23313552
MIRT245624	hsa-miR-3677-5p	HITS-CLIP	23313552
MIRT045854	hsa-miR-128-3p	HITS-CLIP	23313552
MIRT245621	hsa-miR-216a-3p	HITS-CLIP	23313552
MIRT245625	hsa-miR-3681-3p	HITS-CLIP	23313552
MIRT699997	hsa-miR-3065-3p	HITS-CLIP	23313552
MIRT245628	hsa-miR-5693	HITS-CLIP	23313552
MIRT699996	hsa-miR-4317	HITS-CLIP	23313552
MIRT699995	hsa-miR-140-3p	HITS-CLIP	23313552
MIRT699994	hsa-miR-103a-3p	HITS-CLIP	23313552
MIRT699993	hsa-miR-107	HITS-CLIP	23313552
MIRT699992	hsa-miR-7974	HITS-CLIP	23313552
MIRT699991	hsa-miR-2116-5p	HITS-CLIP	23313552
MIRT699990	hsa-miR-22-5p	HITS-CLIP	23313552
MIRT699989	hsa-miR-7156-3p	HITS-CLIP	23313552
MIRT699988	hsa-miR-1301-3p	HITS-CLIP	23313552
MIRT699987	hsa-miR-5047	HITS-CLIP	23313552
MIRT245627	hsa-miR-4701-5p	HITS-CLIP	23313552
MIRT245622	hsa-miR-588	HITS-CLIP	23313552
MIRT263519	hsa-miR-4677-5p	HITS-CLIP	23313552
MIRT468946	hsa-miR-3125	PAR-CLIP	23592263
MIRT468945	hsa-miR-3916	PAR-CLIP	23592263
MIRT468944	hsa-miR-6859-5p	PAR-CLIP	23592263
MIRT468942	hsa-miR-4779	PAR-CLIP	23592263
MIRT468943	hsa-miR-4436b-3p	PAR-CLIP	23592263
MIRT468941	hsa-miR-4632-5p	PAR-CLIP	23592263
MIRT468940	hsa-miR-6735-5p	PAR-CLIP	23592263
MIRT468939	hsa-miR-6879-5p	PAR-CLIP	23592263
MIRT468938	hsa-miR-7843-5p	PAR-CLIP	23592263
MIRT468937	hsa-miR-3927-3p	PAR-CLIP	23592263
MIRT468936	hsa-miR-6831-5p	PAR-CLIP	23592263
MIRT468935	hsa-miR-3616-3p	PAR-CLIP	23592263
MIRT468934	hsa-miR-6804-5p	PAR-CLIP	23592263
MIRT468933	hsa-miR-4736	PAR-CLIP	23592263
MIRT468931	hsa-miR-6721-5p	PAR-CLIP	23592263
MIRT468932	hsa-miR-609	PAR-CLIP	23592263
MIRT468930	hsa-miR-4451	PAR-CLIP	23592263
MIRT468929	hsa-miR-4694-5p	PAR-CLIP	23592263
MIRT468928	hsa-miR-3152-3p	PAR-CLIP	23592263
MIRT468927	hsa-miR-877-5p	PAR-CLIP	23592263
MIRT1317893	hsa-miR-103a	CLIP-seq
MIRT1317894	hsa-miR-128	CLIP-seq
MIRT1317895	hsa-miR-1301	CLIP-seq
MIRT1317896	hsa-miR-2116	CLIP-seq
MIRT1317897	hsa-miR-4670-3p	CLIP-seq
MIRT1317894	hsa-miR-128	CLIP-seq
MIRT1317898	hsa-miR-3925-3p	CLIP-seq
MIRT1317899	hsa-miR-4679	CLIP-seq
MIRT1317900	hsa-miR-640	CLIP-seq
MIRT1317901	hsa-miR-766	CLIP-seq
MIRT1317902	hsa-miR-1293	CLIP-seq
MIRT1317903	hsa-miR-1304	CLIP-seq
MIRT1317904	hsa-miR-3165	CLIP-seq
MIRT1317905	hsa-miR-3689a-3p	CLIP-seq
MIRT1317906	hsa-miR-3689c	CLIP-seq
MIRT1317907	hsa-miR-4425	CLIP-seq
MIRT1317908	hsa-miR-4433	CLIP-seq
MIRT1317909	hsa-miR-4459	CLIP-seq
MIRT1317910	hsa-miR-4483	CLIP-seq
MIRT1317911	hsa-miR-4728-5p	CLIP-seq
MIRT1317912	hsa-miR-4768-3p	CLIP-seq
MIRT1317913	hsa-miR-485-5p	CLIP-seq
MIRT1317894	hsa-miR-128	CLIP-seq
MIRT1317896	hsa-miR-2116	CLIP-seq
MIRT2318975	hsa-miR-4426	CLIP-seq
MIRT2318976	hsa-miR-4647	CLIP-seq
MIRT2318977	hsa-miR-4662b	CLIP-seq
MIRT1317893	hsa-miR-103a	CLIP-seq
MIRT1317894	hsa-miR-128	CLIP-seq
MIRT1317895	hsa-miR-1301	CLIP-seq
MIRT1317896	hsa-miR-2116	CLIP-seq
MIRT2458576	hsa-miR-1273g	CLIP-seq
MIRT2458577	hsa-miR-1285	CLIP-seq
MIRT2458578	hsa-miR-197	CLIP-seq
MIRT2458579	hsa-miR-3187-5p	CLIP-seq
MIRT2458580	hsa-miR-323b-5p	CLIP-seq
MIRT2458581	hsa-miR-3591-3p	CLIP-seq
MIRT2458582	hsa-miR-3613-3p	CLIP-seq
MIRT2458583	hsa-miR-371-5p	CLIP-seq
MIRT2458584	hsa-miR-371b-5p	CLIP-seq
MIRT2458585	hsa-miR-4256	CLIP-seq
MIRT2458586	hsa-miR-4432	CLIP-seq
MIRT2458587	hsa-miR-4662a-5p	CLIP-seq
MIRT2458588	hsa-miR-4676-5p	CLIP-seq
MIRT2458589	hsa-miR-4684-5p	CLIP-seq
MIRT2458590	hsa-miR-4725-5p	CLIP-seq
MIRT2458591	hsa-miR-4755-3p	CLIP-seq
MIRT2458592	hsa-miR-4793-3p	CLIP-seq
MIRT2458593	hsa-miR-504	CLIP-seq
MIRT2458594	hsa-miR-508-5p	CLIP-seq
MIRT2458595	hsa-miR-575	CLIP-seq
MIRT2458596	hsa-miR-612	CLIP-seq
MIRT2458597	hsa-miR-661	CLIP-seq
MIRT1317901	hsa-miR-766	CLIP-seq
MIRT2458576	hsa-miR-1273g	CLIP-seq
MIRT2458587	hsa-miR-4662a-5p	CLIP-seq
MIRT2458588	hsa-miR-4676-5p	CLIP-seq
MIRT2458589	hsa-miR-4684-5p	CLIP-seq
MIRT2458591	hsa-miR-4755-3p	CLIP-seq
MIRT2458595	hsa-miR-575	CLIP-seq
MIRT2614646	hsa-miR-1253	CLIP-seq
MIRT2458576	hsa-miR-1273g	CLIP-seq
MIRT2458577	hsa-miR-1285	CLIP-seq
MIRT2614647	hsa-miR-147	CLIP-seq
MIRT2614648	hsa-miR-1827	CLIP-seq
MIRT2614649	hsa-miR-2467-3p	CLIP-seq
MIRT2614650	hsa-miR-3160-3p	CLIP-seq
MIRT2614651	hsa-miR-3185	CLIP-seq
MIRT2458579	hsa-miR-3187-5p	CLIP-seq
MIRT2458580	hsa-miR-323b-5p	CLIP-seq
MIRT2458582	hsa-miR-3613-3p	CLIP-seq
MIRT1317905	hsa-miR-3689a-3p	CLIP-seq
MIRT1317906	hsa-miR-3689c	CLIP-seq
MIRT2458583	hsa-miR-371-5p	CLIP-seq
MIRT2458584	hsa-miR-371b-5p	CLIP-seq
MIRT2614652	hsa-miR-3929	CLIP-seq
MIRT2614653	hsa-miR-4257	CLIP-seq
MIRT2614654	hsa-miR-4311	CLIP-seq
MIRT2614655	hsa-miR-4419b	CLIP-seq
MIRT1317907	hsa-miR-4425	CLIP-seq
MIRT2458586	hsa-miR-4432	CLIP-seq
MIRT2614656	hsa-miR-4478	CLIP-seq
MIRT2614657	hsa-miR-4487	CLIP-seq
MIRT2614658	hsa-miR-4646-5p	CLIP-seq
MIRT2458587	hsa-miR-4662a-5p	CLIP-seq
MIRT2614659	hsa-miR-4663	CLIP-seq
MIRT2458588	hsa-miR-4676-5p	CLIP-seq
MIRT2458589	hsa-miR-4684-5p	CLIP-seq
MIRT2614660	hsa-miR-4696	CLIP-seq
MIRT2614661	hsa-miR-4722-5p	CLIP-seq
MIRT1317911	hsa-miR-4728-5p	CLIP-seq
MIRT2614662	hsa-miR-4747-5p	CLIP-seq
MIRT2458591	hsa-miR-4755-3p	CLIP-seq
MIRT1317912	hsa-miR-4768-3p	CLIP-seq
MIRT2458592	hsa-miR-4793-3p	CLIP-seq
MIRT1317913	hsa-miR-485-5p	CLIP-seq
MIRT2614663	hsa-miR-490-3p	CLIP-seq
MIRT2458594	hsa-miR-508-5p	CLIP-seq
MIRT2614664	hsa-miR-520d-5p	CLIP-seq
MIRT2614665	hsa-miR-524-5p	CLIP-seq
MIRT2614666	hsa-miR-558	CLIP-seq
MIRT2458595	hsa-miR-575	CLIP-seq
MIRT2458596	hsa-miR-612	CLIP-seq
MIRT2458597	hsa-miR-661	CLIP-seq
MIRT1317901	hsa-miR-766	CLIP-seq
MIRT2614667	hsa-miR-940	CLIP-seq
MIRT2614646	hsa-miR-1253	CLIP-seq
MIRT2458576	hsa-miR-1273g	CLIP-seq
MIRT2458577	hsa-miR-1285	CLIP-seq
MIRT2614648	hsa-miR-1827	CLIP-seq
MIRT2614649	hsa-miR-2467-3p	CLIP-seq
MIRT2614651	hsa-miR-3185	CLIP-seq
MIRT2458579	hsa-miR-3187-5p	CLIP-seq
MIRT2458580	hsa-miR-323b-5p	CLIP-seq
MIRT2458582	hsa-miR-3613-3p	CLIP-seq
MIRT2458583	hsa-miR-371-5p	CLIP-seq
MIRT2458584	hsa-miR-371b-5p	CLIP-seq
MIRT2614653	hsa-miR-4257	CLIP-seq
MIRT2614654	hsa-miR-4311	CLIP-seq
MIRT2458586	hsa-miR-4432	CLIP-seq
MIRT2614658	hsa-miR-4646-5p	CLIP-seq
MIRT2458587	hsa-miR-4662a-5p	CLIP-seq
MIRT2458588	hsa-miR-4676-5p	CLIP-seq
MIRT2458589	hsa-miR-4684-5p	CLIP-seq
MIRT2614660	hsa-miR-4696	CLIP-seq
MIRT2614661	hsa-miR-4722-5p	CLIP-seq
MIRT2614662	hsa-miR-4747-5p	CLIP-seq
MIRT2458591	hsa-miR-4755-3p	CLIP-seq
MIRT1317912	hsa-miR-4768-3p	CLIP-seq
MIRT2458592	hsa-miR-4793-3p	CLIP-seq
MIRT2614663	hsa-miR-490-3p	CLIP-seq
MIRT2458594	hsa-miR-508-5p	CLIP-seq
MIRT2614664	hsa-miR-520d-5p	CLIP-seq
MIRT2614665	hsa-miR-524-5p	CLIP-seq
MIRT2458595	hsa-miR-575	CLIP-seq
MIRT2458596	hsa-miR-612	CLIP-seq
MIRT2458597	hsa-miR-661	CLIP-seq
MIRT1317901	hsa-miR-766	CLIP-seq
MIRT2614667	hsa-miR-940	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002181	Process	Cytoplasmic translation	IC	23636399
GO:0002181	Process	Cytoplasmic translation	NAS	25901680
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0003735	Function	Structural constituent of ribosome	HDA	15883184
GO:0003735	Function	Structural constituent of ribosome	IBA
GO:0003735	Function	Structural constituent of ribosome	IDA	23636399
GO:0003735	Function	Structural constituent of ribosome	IEA
GO:0003735	Function	Structural constituent of ribosome	IMP	18697920
GO:0003735	Function	Structural constituent of ribosome	NAS	18412286
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005730	Component	Nucleolus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	NAS	25901680
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005840	Component	Ribosome	IEA
GO:0006364	Process	RRNA processing	IMP	18230666, 18697920
GO:0006412	Process	Translation	IC	8706699, 15883184
GO:0006412	Process	Translation	IEA
GO:0015935	Component	Small ribosomal subunit	HDA	15883184
GO:0016020	Component	Membrane	HDA	19946888
GO:0022626	Component	Cytosolic ribosome	IDA	23636399
GO:0022627	Component	Cytosolic small ribosomal subunit	HDA	15883184
GO:0022627	Component	Cytosolic small ribosomal subunit	IBA
GO:0022627	Component	Cytosolic small ribosomal subunit	IDA	8706699
GO:0022627	Component	Cytosolic small ribosomal subunit	IEA
GO:0022627	Component	Cytosolic small ribosomal subunit	NAS	25901680
GO:0031369	Function	Translation initiation factor binding	ISS
GO:0032040	Component	Small-subunit processome	IDA	34516797
GO:0034101	Process	Erythrocyte homeostasis	IMP	17186470, 18230666
GO:0042274	Process	Ribosomal small subunit biogenesis	IDA	34516797
GO:0042274	Process	Ribosomal small subunit biogenesis	IMP	18230666, 18697920
GO:1990904	Component	Ribonucleoprotein complex	IEA

Other IDs

• MIM: 602412
• HGNC: 10411
• e!Ensembl: ENSG00000138326

Protein

• UniProt ID: P62847
• Protein name: Small ribosomal subunit protein eS24 (40S ribosomal protein S24)
• Protein function: Component of the small ribosomal subunit (PubMed:23636399). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:23636399). Required for processing of pre-rRNA and maturation of 40S ribo
• PDB: 4UG0, 4V6X, 5A2Q, 5AJ0, 5FLX, 5LKS, 5OA3, 5T2C, 5VYC, 6FEC, 6G18, 6G4S, 6G4W, 6G51, 6G53, 6G5H, 6G5I, 6IP5, 6IP6, 6IP8, 6MTD, 6MTE, 6OLE, 6OLF, 6OLG, 6OLI, 6OLZ, 6OM0, 6OM7, 6QZP, 6XA1, 6Y0G, 6Y2L, 6Y57, 6YBW, 6Z6L, 6Z6M, 6Z6N, 6ZLW, 6ZM7, 6ZME, 6ZMI, 6ZMO, 6ZMT, 6ZMW, 6ZN5, 6ZOJ, 6ZOK, 6ZON, 6ZP4, 6ZUO
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01282	Ribosomal_S24e	24 → 102	Ribosomal protein S24e	Family

• Tissue specificity: TISSUE SPECIFICITY: Mature tissues, such as adult brain, skeletal muscle, heart, and kidney, express low levels, whereas tissues and organs with significant populations of proliferating cells, such as fetal brain, placenta, bone marrow, and various glandu
• Sequence:

  MNDTVTIRTRKFMTNRLLQRKQMVIDVLHPGKATVPKTEIREKLAKMYKTTPDVIFVFGF
  RTHFGGGKTTGFGMIYDSLDYAKKNEPKHRLARHGLYEKKKTSRKQRKERKNRMKKVRGT
  AKANVGAGKKPKE

• Sequence length: 133

Pathways

KEGG:

Ribosome
Coronavirus disease - COVID-19

Reactome:

L13a-mediated translational silencing of Ceruloplasmin expression
SRP-dependent cotranslational protein targeting to membrane
Viral mRNA Translation
Major pathway of rRNA processing in the nucleolus and cytosol
Translation initiation complex formation
Formation of a pool of free 40S subunits
Formation of the ternary complex, and subsequently, the 43S complex
Ribosomal scanning and start codon recognition
GTP hydrolysis and joining of the 60S ribosomal subunit
Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC)
Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Abnormality of blood and blood-forming tissues	Likely pathogenic	rs2131976201	RCV001814508	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Diamond-Blackfan anemia	Pathogenic; Likely pathogenic	rs2493280473, rs2493281976, rs2493274026, rs104894189, rs886039545, rs2493287899, rs1589326484	RCV002364567 RCV002441408 RCV002435644 RCV000638824 RCV000551919 RCV003507638 RCV000820617	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Diamond-Blackfan anemia 3	Likely pathogenic; Pathogenic	rs2131976643, rs104894188, rs104894189, rs116840806, rs2493281886, rs1554841994	RCV001507086 RCV000007667 RCV000007668 RCV000007669 RCV003232044 RCV000664315	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANEMIA, DIAMOND-BLACKFAN	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA, DIAMOND-BLACKFAN, 3	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RPS24-related disorder	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Aase Smith syndrome 2	Aase-Smith syndrome	GENOMICS_ENGLAND_DG	22939629		★☆☆☆☆ Found in Text Mining only
Aase syndrome	Aase-Smith syndrome	CLINGEN_DG	17186470, 18230666, 19773262, 22939629, 23812780, 25946618		★☆☆☆☆ Found in Text Mining only
Acute leukemia	Leukemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	35766008	Associate	★☆☆☆☆ Found in Text Mining only
Anemia, Diamond-Blackfan	Anemia	BEFREE	17186470, 17647292, 17726054, 18230666, 18781615, 20378560, 21435509, 22510774, 25189322		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia, Diamond-Blackfan	Anemia	GENOMICS_ENGLAND_DG	17186470, 19689926, 22939629, 23812780, 28297620		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia, Diamond-Blackfan	Anemia	CLINGEN_DG	17186470, 18230666, 19773262, 22939629, 23812780, 25946618		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia, Diamond-Blackfan	Anemia	CLINVAR_DG	17186470, 19689926		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia, Diamond-Blackfan	Anemia	LHGDN	18230666		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia, Diamond-Blackfan, 3	Anemia	GENOMICS_ENGLAND_DG	17186470, 19689926, 19773262, 22939629, 23812780		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia, Diamond-Blackfan, 3	Anemia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia, Diamond-Blackfan, 3	Anemia	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia, Macrocytic	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	25601189	Associate	★☆☆☆☆ Found in Text Mining only
Blackfan-Diamond anemia	Blackfan-Diamond Anemia	Orphanet			★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	36614249	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	26149657		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	26149657, 31642979, 31797757		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	31911497	Associate	★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	31124977	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	17786358		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	29016636		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	26271415		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	26149657		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neck webbing	Neck Webbing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	29344651	Associate	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	29016636		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	29016636, 31911497	Associate	★☆☆☆☆ Found in Text Mining only