Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	55181
Gene name	SMG8 nonsense mediated mRNA decay factor
Gene symbol	SMG8
Synonyms (NCBI Gene)	ALKUSC17orf71
Chromosome	17
Chromosome location	17q22

Show/Hide all (59)

miRTarBase ID	miRNA	Experiments
MIRT1373574	hsa-miR-1290	CLIP-seq
MIRT1373575	hsa-miR-30a	CLIP-seq
MIRT1373576	hsa-miR-30b	CLIP-seq
MIRT1373577	hsa-miR-30c	CLIP-seq
MIRT1373578	hsa-miR-30d	CLIP-seq
MIRT1373579	hsa-miR-30e	CLIP-seq
MIRT1373580	hsa-miR-3122	CLIP-seq
MIRT1373581	hsa-miR-3153	CLIP-seq
MIRT1373582	hsa-miR-3167	CLIP-seq
MIRT1373583	hsa-miR-3913-5p	CLIP-seq
MIRT1373584	hsa-miR-4668-5p	CLIP-seq
MIRT1373585	hsa-miR-4773	CLIP-seq
MIRT1373586	hsa-miR-4777-5p	CLIP-seq
MIRT1373587	hsa-miR-518d-5p	CLIP-seq
MIRT1373588	hsa-miR-519b-5p	CLIP-seq
MIRT1373589	hsa-miR-519c-5p	CLIP-seq
MIRT1373590	hsa-miR-520c-5p	CLIP-seq
MIRT1373591	hsa-miR-526a	CLIP-seq
MIRT1373592	hsa-miR-570	CLIP-seq
MIRT1373593	hsa-miR-876-5p	CLIP-seq
MIRT2111235	hsa-miR-3065-5p	CLIP-seq
MIRT2111236	hsa-miR-338-5p	CLIP-seq
MIRT1373585	hsa-miR-4773	CLIP-seq
MIRT2111237	hsa-miR-548n	CLIP-seq
MIRT1373574	hsa-miR-1290	CLIP-seq
MIRT2334369	hsa-miR-1297	CLIP-seq
MIRT2334370	hsa-miR-200b	CLIP-seq
MIRT2334371	hsa-miR-200c	CLIP-seq
MIRT2334372	hsa-miR-26a	CLIP-seq
MIRT2334373	hsa-miR-26b	CLIP-seq
MIRT1373575	hsa-miR-30a	CLIP-seq
MIRT1373576	hsa-miR-30b	CLIP-seq
MIRT1373577	hsa-miR-30c	CLIP-seq
MIRT1373578	hsa-miR-30d	CLIP-seq
MIRT1373579	hsa-miR-30e	CLIP-seq
MIRT2334374	hsa-miR-3159	CLIP-seq
MIRT1373582	hsa-miR-3167	CLIP-seq
MIRT2111236	hsa-miR-338-5p	CLIP-seq
MIRT2334375	hsa-miR-3545-3p	CLIP-seq
MIRT2334376	hsa-miR-382	CLIP-seq
MIRT2334377	hsa-miR-4267	CLIP-seq
MIRT2334378	hsa-miR-429	CLIP-seq
MIRT2334379	hsa-miR-4465	CLIP-seq
MIRT2334380	hsa-miR-4539	CLIP-seq
MIRT1373584	hsa-miR-4668-5p	CLIP-seq
MIRT2334381	hsa-miR-4680-5p	CLIP-seq
MIRT2334382	hsa-miR-4724-5p	CLIP-seq
MIRT1373585	hsa-miR-4773	CLIP-seq
MIRT1373586	hsa-miR-4777-5p	CLIP-seq
MIRT2334383	hsa-miR-4789-3p	CLIP-seq
MIRT2334384	hsa-miR-486-5p	CLIP-seq
MIRT1373587	hsa-miR-518d-5p	CLIP-seq
MIRT1373588	hsa-miR-519b-5p	CLIP-seq
MIRT1373589	hsa-miR-519c-5p	CLIP-seq
MIRT1373590	hsa-miR-520c-5p	CLIP-seq
MIRT1373591	hsa-miR-526a	CLIP-seq
MIRT2334385	hsa-miR-548aa	CLIP-seq
MIRT1373592	hsa-miR-570	CLIP-seq
MIRT1373593	hsa-miR-876-5p	CLIP-seq

Show/Hide all (6)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000184	Process	Nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	IBA
GO:0000184	Process	Nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	IEA
GO:0000184	Process	Nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	IMP	19417104
GO:0005515	Function	Protein binding	IPI	19417104, 20817927, 26496610, 26841701, 33205750
GO:0005829	Component	Cytosol	TAS
GO:0045859	Process	Regulation of protein kinase activity	IMP	19417104

MIM	HGNC	e!Ensembl
613175	25551	ENSG00000167447

Q8ND04

Protein name

Nonsense-mediated mRNA decay factor SMG8 (Amplified in breast cancer gene 2 protein) (Protein smg-8 homolog)

Protein function

Involved in nonsense-mediated decay (NMD) of mRNAs containing premature stop codons. Is recruited by release factors to stalled ribosomes together with SMG1 and SMG9 (forming the SMG1C protein kinase complex) and, in the SMG1C complex, is requir

PDB

6L54 , 6SYT , 6Z3R , 7PW4 , 7PW5 , 7PW8

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF10220	Smg8_Smg9	41 → 985	Smg8_Smg9	Family

Sequence

MAGPVSLRDLLMGASAWMGSESPGGSPTEGGGSAAGGPEPPWREDEICVVGIFGKTALRL
NSEKFSLVNTVCDRQVFPLFRHQDPGDPGPGIRTEAGAVGEAGGAEDPGAAAGGSVRGSG
AVAEGNRTEAGSQDYSLLQAYYSQESKVLYLLLTSICDNSQLLRACRALQSGEAGGGLSL
PHAEAHEFWKHQEKLQCLSLLYLFSVCHILLLVHPTCSFDITYDRVFRALDGLRQKVLPL
LKTAIKDCPVGKDWKLNCRPCPPRLLFLFQLNGALKVEPPRNQDPAHPDKPKKHSPKRRL
QHALEDQIYRIFRKSRVLTNQSINCLFTVPANQAFVYIVPGSQEEDPVGMLLDQLRSHCT
VKDPESLLVPAPLSGPRRYQVMRQHSRQQLSFHIDSSSSSSSGQLVDFTLREFLWQHVEL
VLSKKGFDDSVGRNPQPSHFELPTYQKWISAASKLYEVAIDGKEEDLGSPTGELTSKILS
SIKVLEGFLDIDTKFSENRCQKALPMAHSAYQSNLPHNYTMTVHKNQLAQALRVYSQHAR
GPAFHKYAMQLHEDCYKFWSNGHQLCEERSLTDQHCVHKFHSLPKSGEKPEADRNPPVLY
HNSRARSTGACNCGRKQAPRDDPFDIKAANYDFYQLLEEKCCGKLDHINFPVFEPSTPDP
APAKNESSPAPPDSDADKLKEKEPQTQGESTSLSLALSLGQSTDSLGTYPADPQAGGDNP
EVHGQVEVKTEKRPNFVDRQASTVEYLPGMLHSNCPKGLLPKFSSWSLVKLGPAKSYNFH
TGLDQQGFIPGTNYLMPWDIVIRTRAEDEGDLDTNSWPAPNKAIPGKRSAVVMGRGRRRD
DIARAFVGFEYEDSRGRRFMCSGPDKVMKVMGSGPKESALKALNSDMPLYILSSSQGRGL
KPHYAQLMRLFVVVPDAPLQIILMPQVQPGPPPCPVFYPEKQEITLPPDGLWVLRFPYAY
VTERGPCFPPKENVQLMSYKVLRGVLKAVTQ

Sequence length

991

Interactions

View interactions

	Reactome
			Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)

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)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Alzahrani-Kuwahara syndrome	Pathogenic; Likely pathogenic	rs2147863799, rs755161625, rs2147863904, rs1277270999, rs765683395, rs2546574489, rs2546573344	RCV001374695 RCV001374696 RCV001374697 RCV003230795 RCV003404909 RCV003764461 RCV003764466 View all (2 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
Hepatocellular carcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SMG8-related disorder	Uncertain significance; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (13)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acoustic Neuroma	Acoustic Neuroma	BEFREE	28394785		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arteriovenous Malformations, Cerebral	Cerebral arteriovenous malformation	BEFREE	31064679		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	24305708		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy	Vascular leukoencephalopathy	BEFREE	23983263		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	23983263	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital arteriovenous malformation	Congenital Arteriovenous Malformation	BEFREE	28605551, 31064679		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Coordination Disorder	Developmental dyspraxia	BEFREE	31249536		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	33242396	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	33242396	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of brain	Brain Neoplasms	BEFREE	24305708		★★★★★ ★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	31401721		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	33242396	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	28394785		★★★★★ ★☆☆☆☆ Found in Text Mining only

SMG8 (SMG8 nonsense mediated mRNA decay factor)