RPS24 (ribosomal protein S24)
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Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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6229 |
Gene nameGene Name - the full gene name approved by the HGNC.
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Ribosomal protein S24 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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RPS24 |
SynonymsGene synonyms aliases
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DBA3, S24, eS24 |
ChromosomeChromosome number
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10 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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10q22.3 |
SummarySummary of gene provided in NCBI Entrez Gene.
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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 |
SNPsSNP information provided by dbSNP.
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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 |
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miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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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
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Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF01282 |
Ribosomal_S24e |
24 → 102 |
Ribosomal protein S24e |
Family |
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Sequence |
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Sequence length |
133 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
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Associated diseases
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Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Anemia |
Anemia, Macrocytic, Anemia, Diamond-Blackfan, Anemia, Diamond-Blackfan, 3 |
rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505 |
23812780, 22939629, 19689926, 19773262, 17186470, 28297620, 25946618, 18230666, 23812780, 17186470, 19689926, 22939629, 19773262 |
Leukemia |
Leukemia, Myelocytic, Acute, Acute leukemia |
rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297, rs11978267, rs4132601 |
27903959 |
Migraine |
Migraine Disorders |
rs794727411 |
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