SMG8

Protein identityUniProt · HPA

UniProt accession

Q8ND04

Gene

SMG8

Ensembl

ENSG00000167447

Chromosome

17

Canonical length

991 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins

Subcellular location

Nucleoplasm

OverviewNCBI Gene

Involved in nuclear-transcribed mRNA catabolic process, nonsense-mediated decay and regulation of protein kinase activity. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

991 residues, UniProt reviewed canonical sequence.

>Q8ND04|SMG8
     1  MAGPVSLRDL LMGASAWMGS ESPGGSPTEG GGSAAGGPEP PWREDEICVV GIFGKTALRL
    61  NSEKFSLVNT VCDRQVFPLF RHQDPGDPGP GIRTEAGAVG EAGGAEDPGA AAGGSVRGSG
   121  AVAEGNRTEA GSQDYSLLQA YYSQESKVLY LLLTSICDNS QLLRACRALQ SGEAGGGLSL
   181  PHAEAHEFWK HQEKLQCLSL LYLFSVCHIL LLVHPTCSFD ITYDRVFRAL DGLRQKVLPL
   241  LKTAIKDCPV GKDWKLNCRP CPPRLLFLFQ LNGALKVEPP RNQDPAHPDK PKKHSPKRRL
   301  QHALEDQIYR IFRKSRVLTN QSINCLFTVP ANQAFVYIVP GSQEEDPVGM LLDQLRSHCT
   361  VKDPESLLVP APLSGPRRYQ VMRQHSRQQL SFHIDSSSSS SSGQLVDFTL REFLWQHVEL
   421  VLSKKGFDDS VGRNPQPSHF ELPTYQKWIS AASKLYEVAI DGKEEDLGSP TGELTSKILS
   481  SIKVLEGFLD IDTKFSENRC QKALPMAHSA YQSNLPHNYT MTVHKNQLAQ ALRVYSQHAR
   541  GPAFHKYAMQ LHEDCYKFWS NGHQLCEERS LTDQHCVHKF HSLPKSGEKP EADRNPPVLY
   601  HNSRARSTGA CNCGRKQAPR DDPFDIKAAN YDFYQLLEEK CCGKLDHINF PVFEPSTPDP
   661  APAKNESSPA PPDSDADKLK EKEPQTQGES TSLSLALSLG QSTDSLGTYP ADPQAGGDNP
   721  EVHGQVEVKT EKRPNFVDRQ ASTVEYLPGM LHSNCPKGLL PKFSSWSLVK LGPAKSYNFH
   781  TGLDQQGFIP GTNYLMPWDI VIRTRAEDEG DLDTNSWPAP NKAIPGKRSA VVMGRGRRRD
   841  DIARAFVGFE YEDSRGRRFM CSGPDKVMKV MGSGPKESAL KALNSDMPLY ILSSSQGRGL
   901  KPHYAQLMRL FVVVPDAPLQ IILMPQVQPG PPPCPVFYPE KQEITLPPDG LWVLRFPYAY
   961  VTERGPCFPP KENVQLMSYK VLRGVLKAVT Q

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SMG8 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.38

Highest tissue expression

11 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SMG8.

Disease | AllUniProt

Conditions SMG8 is implicated in, by any mechanism.

• Alzahrani-Kuwahara syndrome (ALKUS) MIM:619268

Disease | GeneticClinVar

12 pathogenic / likely-pathogenic of 164 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Alzahrani-Kuwahara syndrome
• Inborn genetic diseases

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.47

gnomAD pLI

0.01

gnomAD missense Z

1.73

DepMap mean gene effect

-0.33

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 9% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• nuclear-transcribed mRNA catabolic process, nonsense-mediated decay
• regulation of protein kinase activity

Cellular components

• cytosol

Protein domainsUniProt · Pfam · InterPro

• Nonsense-mediated mRNA decay factor SMG8-like
• Smg8_Smg9

KeywordsUniProt

• Cataract
• Intellectual disability
• Methylation
• Nonsense-mediated mRNA decay
• Phosphoprotein

InteractionsUniProt · HPA

Protein binding partners of SMG8 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• SMG9