SMG9 (SMG9 nonsense mediated mRNA decay factor)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
56006
Gene name Gene Name - the full gene name approved by the HGNC.
SMG9 nonsense mediated mRNA decay factor
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SMG9
Synonyms (NCBI Gene) Gene synonyms aliases
C19orf61, F17127_1, HBMS, NEDITPO
Disease Acronyms (UniProt) Disease acronyms from UniProt database
HBMS, NEDITPO
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19q13.31
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a regulatory subunit of the SMG1 complex, which plays a critical role in nonsense-mediated mRNA decay (NMD). Binding of the encoded protein to the SMG1 complex kinase scaffold protein results in the inhibition of its kinase activity. Mut
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(2)
SNP ID Visualize variation Clinical significance Consequence
rs869312741 GG>- Likely-pathogenic, pathogenic Frameshift variant, 5 prime UTR variant, coding sequence variant
rs869312742 T>C Likely-pathogenic, pathogenic Intron variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(14)
miRTarBase ID miRNA Experiments Reference
MIRT2111238 hsa-miR-1276 CLIP-seq
MIRT2111239 hsa-miR-3158-3p CLIP-seq
MIRT2111240 hsa-miR-3202 CLIP-seq
MIRT2111241 hsa-miR-323b-3p CLIP-seq
MIRT2111242 hsa-miR-4311 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 Pathways Associated diseases
Show/Hide all(10)
GO ID Ontology Definition Evidence Reference
GO:0000184 Process Nuclear-transcribed mRNA catabolic process, nonsense-mediated decay IBA 21873635
GO:0000184 Process Nuclear-transcribed mRNA catabolic process, nonsense-mediated decay IMP 19417104
GO:0000184 Process Nuclear-transcribed mRNA catabolic process, nonsense-mediated decay TAS
GO:0001654 Process Eye development ISS
GO:0001701 Process In utero embryonic development IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
613176 25763 ENSG00000105771
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q9H0W8
Protein name Nonsense-mediated mRNA decay factor SMG9
Protein function Involved in nonsense-mediated decay (NMD) of mRNAs containing premature stop codons (PubMed:19417104). Is recruited by release factors to stalled ribosomes together with SMG1 and SMG8 (forming the SMG1C protein kinase complex) and, in the SMG1C
PDB 6L54 , 6SYT , 6Z3R , 7PW4 , 7PW5 , 7PW7 , 7PW8 , 7PW9 , 8FE7
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10220 Smg8_Smg9 198 → 351 Smg8_Smg9 Family
Sequence 
MSESGHSQPGLYGIERRRRWKEPGSGGPQNLSGPGGRERDYIAPWERERRDASEETSTSV
MQKTPIILSKPPAERSKQPPPPTAPAAPPAPAPLEKPIVLMKPREEGKGPVAVTGASTPE
GTAPPPPAAPAPPKGEKEGQRPTQPVYQIQNRGMGTAAPAAMDPVVGQAKLLPPERMKHS
IKLVDDQMNWCDSAIEYLLDQTDVLVVGVLGLQGTGKSMVMSLLSANTPEEDQRTYVFRA
QSAEMKERGGNQTSGIDFFITQERIVFLDTQPILSPSILDHLINNDRKLPPEYNLPHTYV
EMQSLQIAAFLFTVCHVVIVVQDWFTDLSLYRFLQTAEMVKPSTPSPSHESSSSSGSDEG
TEYYPHLVFLQNKARREDFCPRKLRQMHLMIDQLMAHSHLRYKGTLSMLQCNVFPGLPPD
FLDSEVNLFLVPFMDSEAESENPPRAGPGSSPLFSLLPGYRGHPSFQSLVSKLRSQVMSM
ARPQLSHTILTEKNWFHYAARIWDGVRKSSALAEYSRLLA
Sequence length 520
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (5)
Causal
Disease term Disease name dbSNP ID References
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)		 27018474
Heart and brain malformation syndrome HEART AND BRAIN MALFORMATION SYNDROME rs869312741 31390136, 27018474
Microcephaly Microcephaly rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019
View all (280 more)
Microphthalmos Microphthalmos rs794726862, rs1329285216
Show/Hide Text Mining Associations (15)
Associations from Text Mining
Disease Name Relationship Type References
Apraxias Associate 35087184
beta Thalassemia Associate 2434529
Brain Diseases Associate 35321723
Developmental Disabilities Associate 33242396, 35087184
Facial Dysmorphism with Multiple Malformations Associate 33242396
Failure to Thrive Associate 35321723
Genetic Diseases Inborn Associate 35321723
Growth Disorders Associate 35321723
Heart Defects Congenital Associate 33242396
Immunologic Deficiency Syndromes Inhibit 35321723