Gene Gene information from NCBI Gene database.
Entrez ID 3921
Gene name Ribosomal protein SA
Gene symbol RPSA
Synonyms (NCBI Gene)
37LRP67LRICASLAMBRLAMR1LBPLBP/p40LRPLRP/LRNEM/1CHD4SAlamRp40uS2
Chromosome 3
Chromosome location 3p22.1
Summary Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, n
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs398122389 ->TCATG Pathogenic Coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
27
miRTarBase ID miRNA Experiments Reference
MIRT031978 hsa-miR-16-5p Proteomics 18668040
MIRT052459 hsa-let-7a-5p CLASH 23622248
MIRT051967 hsa-let-7b-5p CLASH 23622248
MIRT051511 hsa-let-7e-5p CLASH 23622248
MIRT051008 hsa-miR-17-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
45
GO ID Ontology Definition Evidence Reference
GO:0000028 Process Ribosomal small subunit assembly IBA
GO:0000028 Process Ribosomal small subunit assembly IEA
GO:0001618 Function Virus receptor activity IEA
GO:0002181 Process Cytoplasmic translation IBA
GO:0002181 Process Cytoplasmic translation IC 23636399
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
150370 6502 ENSG00000168028
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P08865
Protein name Small ribosomal subunit protein uS2 (37 kDa laminin receptor precursor) (37LRP) (37/67 kDa laminin receptor) (LRP/LR) (40S ribosomal protein SA) (67 kDa laminin receptor) (67LR) (Colon carcinoma laminin-binding protein) (Laminin receptor 1) (LamR) (Lamini
Protein function Required for the assembly and/or stability of the 40S ribosomal subunit. Required for the processing of the 20S rRNA-precursor to mature 18S rRNA in a late step of the maturation of 40S ribosomal subunits. Also functions as a cell surface recept
PDB 3BCH , 4UG0 , 4V5Z , 4V6X , 5A2Q , 5AJ0 , 5FLX , 5LKS , 5OA3 , 5T2C , 5VYC , 6FEC , 6G18 , 6G4S , 6G51 , 6G53 , 6G5H , 6G5I , 6IP5 , 6IP6 , 6IP8 , 6OLE , 6OLF , 6OLG , 6OLI , 6OLZ , 6OM0 , 6OM7 , 6QZP , 6XA1 , 6Y0G , 6Y2L , 6Y57 , 6YBD , 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
PF00318 Ribosomal_S2 18 118 Ribosomal protein S2 Family
PF00318 Ribosomal_S2 111 184 Ribosomal protein S2 Family
PF16122 40S_SA_C 202 295 40S ribosomal protein SA C-terminus Family
Sequence
Sequence length 295
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Ribosome
Coronavirus disease - COVID-19
  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 Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
10
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 Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Familial isolated congenital asplenia Pathogenic; Likely pathogenic rs397514759, rs398122389, rs397514760, rs397514761, rs397514762, rs397514763 RCV000054822
RCV000054823
RCV000054824
RCV000054825
RCV000054826
View all (2 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ASPLENIA, ISOLATED CONGENITAL CTD, HPO
CTD, HPO
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Familial cancer of breast Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
FRONTOTEMPORAL DEMENTIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Coronary Syndrome Coronary Syndrome BEFREE 31057022
★☆☆☆☆
Found in Text Mining only
Acute leukemia Leukemia BEFREE 22664042
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 15543372, 19672972, 22037714
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 11986944
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 22071786, 24194854, 25189640, 26317919, 28298147, 28394798, 28498881, 30718697, 31653135, 31786484, 8257781
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of colon Adenocarcinoma Of Colon BEFREE 18423375
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 24722356, 26469326, 28618937
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma CTD_human_DG 27602772
★☆☆☆☆
Found in Text Mining only
Adenoid Cystic Carcinoma Adenocarcinoma BEFREE 31653135
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 25015728
★☆☆☆☆
Found in Text Mining only