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OSGEP (O-sialoglycoprotein endopeptidase)
Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
55644
Gene nameGene Name - the full gene name approved by the HGNC.
O-sialoglycoprotein endopeptidase
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
OSGEP
SynonymsGene synonyms aliases
GAMOS3, GCPL1, KAE1, OSGEP1, PRSMG1, TCS3
ChromosomeChromosome number
14
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
14q11.2
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
SNP ID Visualize variation Clinical significance Consequence
rs140076803 A>G Pathogenic Missense variant, coding sequence variant
rs140583554 C>T Likely-pathogenic Missense variant, coding sequence variant
rs144732839 C>A,G,T Pathogenic Coding sequence variant, missense variant
rs147548960 G>A Conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant
rs200347983 T>C Likely-pathogenic Coding sequence variant, missense variant
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
miRTarBase ID miRNA Experiments Reference
MIRT1206590 hsa-miR-1273e CLIP-seq
MIRT1206591 hsa-miR-1289 CLIP-seq
MIRT1206592 hsa-miR-1343 CLIP-seq
MIRT1206593 hsa-miR-137 CLIP-seq
MIRT1206594 hsa-miR-3170 CLIP-seq
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
GO ID Ontology Definition Evidence Reference
GO:0000408 Component EKC/KEOPS complex IBA 21873635
GO:0000408 Component EKC/KEOPS complex IDA 27903914, 28805828
GO:0002949 Process TRNA threonylcarbamoyladenosine modification IDA 28805828
GO:0005515 Function Protein binding IPI 23414517, 23455922, 27903914, 28514442, 32296183
GO:0005634 Component Nucleus IDA 27903914, 28805828
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q9NPF4
Protein name tRNA N6-adenosine threonylcarbamoyltransferase (EC 2.3.1.234) (N6-L-threonylcarbamoyladenine synthase) (t(6)A synthase) (O-sialoglycoprotein endopeptidase) (hOSGEP) (t(6)A37 threonylcarbamoyladenosine biosynthesis protein OSGEP) (tRNA threonylcarbamoylade
Protein function Component of the EKC/KEOPS complex that is required for the formation of a threonylcarbamoyl group on adenosine at position 37 (t(6)A37) in tRNAs that read codons beginning with adenine. The complex is probably involved in the transfer of the th
PDB 6GWJ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00814 TsaD
23 → 301
tRNA N6-adenosine threonylcarbamoyltransferase
 Family
Sequence
Sequence length 335
Interactions View interactions
Associated diseases
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Causal
Disease name Disease term dbSNP ID References
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Galloway-mowat syndrome Galloway Mowat syndrome, GALLOWAY-MOWAT SYNDROME 3, Galloway-Mowat syndrome rs727502863, rs727502864, rs730882216, rs797044992, rs767086146, rs754099015, rs797044993, rs797044994, rs797044995, rs863223396, rs869320712, rs776760122, rs1555976610, rs1557211306, rs1557211209, rs1557211410, rs1431526147, rs1432218739, rs773814837, rs1233885358, rs753237335, rs140076803, rs1555331969, rs144732839, rs1443735811, rs374322839, rs773173317, rs140583554, rs1292041526, rs1569314907, rs779449710, rs1433513056, rs745342141, rs866551482, rs1282630153, rs1596050297, rs774069989 28805828, 28805828, 28272532
Glomerulonephritis Glomerulonephritis rs778043831
Hypertension Hypertensive disease rs13306026, rs13333226
Unknown
Disease name Disease term dbSNP ID References
Aqueductal stenosis Aqueductal Stenosis
Arachnodactyly Arachnodactyly
Cerebellar atrophy Cerebellar atrophy
Cerebral atrophy Cerebral atrophy

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