ENSG00000168028
Homo sapiens | |
Features
| Gene ID: | ENSG00000168028 | | | | | Biological name : | RPSA | | | | | Synonyms : | P08865 / ribosomal protein SA / RPSA | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 3 | | Strand: | 1 | | Band: | p22.1 | | Gene start: | 39406689 | | Gene end: | 39412542 | | | | | Corresponding Affymetrix probe sets: | 213801_x_at (Human Genome U133 Plus 2.0 Array) 224348_s_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000346067
Ensembl peptide - ENSP00000410848
Ensembl peptide - ENSP00000396716
Ensembl peptide - ENSP00000389351
NCBI entrez gene - 3921
See in Manteia.
OMIM - 150370
RefSeq - NM_002295
RefSeq - NM_001304288
RefSeq Peptide - NP_001291217
RefSeq Peptide - NP_002286
swissprot - C9J9K3
swissprot - P08865
swissprot - A0A0C4DG17
swissprot - A0A024R2P0
swissprot - F8WD59
Ensembl - ENSG00000168028
| | | | | Related genetic diseases (OMIM): | 271400 - Asplenia, isolated congenital, 271400 |
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed
Ortholog prediction (from Ensembl)
Paralog prediction (from Ensembl)
No match
Protein motifs (from Interpro)
| IPR001865 | Ribosomal protein S2 | | IPR005707 | Ribosomal protein S2, eukaryotic/archaeal | | IPR018130 | Ribosomal protein S2, conserved site | | IPR023591 | Ribosomal protein S2, flavodoxin-like domain superfamily | | IPR027498 | Ribosomal protein S2, eukaryotic | | IPR027504 | 40S ribosomal protein SA | | IPR032281 | 40S ribosomal protein SA, C-terminal domain |
Gene Ontology (GO)
Pathways (from Reactome)
Phenotype (from MGI, Zfin or HPO)
| HP:0000006 | Autosomal dominant inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators] |
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| | HP:0000007 | Autosomal recessive inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
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| | HP:0001438 | Abnormality of the abdomen | "Abnormality of the abdomen ("belly"), that is, the part of the body between the pelvis and the thorax." [HPO:curators] |
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| | HP:0001746 | Asplenia | "Absence (aplasia) of the spleen." [HPO:curators] |
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| | HP:0001894 | Thrombocytosis | |
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| | HP:0001939 | Metabolism abnormality | |
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| | HP:0003593 | Early onset | |
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Interacting proteins (from Reactome)
No match
0 s.
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