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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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SMCR8
SMCR8-C9orf72 complex subunit
Chromosome 17 · 17p11.2
NCBI Gene: 140775Ensembl: ENSG00000176994.12HGNC: HGNC:17921UniProt: Q8TEV9
54PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cytoplasmguanyl-nucleotide exchange factor complexnucleoplasmprotein kinase inhibitor activityNeurodevelopmental disordertemporomandibular joint disorderinflammatory bowel diseaseinflammatory bowel disease 29
✦AI Summary

SMCR8 is a critical component of the C9orf72-SMCR8 complex, which functions as a GTPase-activating protein (GAP) with multiple roles in cellular homeostasis 1. Within the complex, SMCR8 serves as the catalytic GAP subunit while C9orf72 acts as the substrate-binding subunit, together promoting GTPase activity of RAB8A and RAB39B to facilitate autophagosome maturation and membrane trafficking 2. SMCR8 also functions as a negative regulator of autophagy initiation by inhibiting ULK1/ATG1 kinase activity and suppressing expression of autophagy genes including ULK1 and WIPI2 3. Additionally, the C9orf72-SMCR8 complex negatively regulates primary ciliogenesis through RAB8A GAP activity, with implications for hedgehog signaling 1. SMCR8 stability depends on C9orf72 binding; in its absence, SMCR8 undergoes rapid proteasomal degradation via UBR5-mediated K11/K48-linked ubiquitination 4. Loss or reduction of SMCR8 impairs autophagy-lysosomal function and axonal transport, causing motor deficits and axonal swellings 5. These functions are particularly relevant to C9orf72-related amyotrophic lateral sclerosis and frontotemporal dementia, where hexanucleotide repeat expansions cause SMCR8 downregulation, exacerbating neurodegeneration 56.

Sources cited
1
C9orf72-SMCR8 complex functions as a RAB8A GAP and negative regulator of primary ciliogenesis
PMID: 38064514
2
SMCR8 is the GAP subunit while C9orf72 is the RAB8A binding subunit in the complex
PMID: 38293807
3
SMCR8 negatively regulates ULK1 kinase activity and suppresses transcription of autophagy genes including ULK1 and WIPI2
PMID: 28195531
4
SMCR8 prevents C9orf72 degradation; loss of SMCR8 leads to UBR5-mediated proteasomal degradation via K11/K48-linked ubiquitination
PMID: 37317656
5
SMCR8 deficiency impairs autophagy-lysosomal function and axonal transport, causing motor deficits and axonal swellings in ALS/FTD models
PMID: 31625563
6
C9orf72-SMCR8 complex regulates vesicle trafficking, lysosome homeostasis, mTORC1 signaling, and autophagy in ALS/FTD pathogenesis
PMID: 33259633
Disease Associationsⓘ20
Neurodevelopmental disorderOpen Targets
0.12Weak
temporomandibular joint disorderOpen Targets
0.12Weak
inflammatory bowel diseaseOpen Targets
0.10Weak
inflammatory bowel disease 29Open Targets
0.09Suggestive
inflammatory bowel disease 13Open Targets
0.09Suggestive
inflammatory bowel disease 19Open Targets
0.09Suggestive
Autosomal recessive early-onset inflammatory bowel diseaseOpen Targets
0.07Suggestive
multiple sclerosisOpen Targets
0.07Suggestive
inflammatory bowel disease 25Open Targets
0.06Suggestive
inflammatory bowel disease 30Open Targets
0.06Suggestive
esophageal adenocarcinomaOpen Targets
0.06Suggestive
gastroesophageal reflux diseaseOpen Targets
0.06Suggestive
immunodeficiency due to MASP-2 deficiencyOpen Targets
0.06Suggestive
Hirschsprung diseaseOpen Targets
0.06Suggestive
Crohn's diseaseOpen Targets
0.06Suggestive
inflammatory bowel disease 1Open Targets
0.06Suggestive
ulcerative colitisOpen Targets
0.06Suggestive
combined immunodeficiency due to ZAP70 deficiencyOpen Targets
0.05Suggestive
X-linked lymphoproliferative diseaseOpen Targets
0.05Suggestive
activated PI3K-delta syndromeOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
MADDProtein interaction100%RAB39BProtein interaction100%LAMTOR4Protein interaction100%TANKProtein interaction93%TBK1Protein interaction93%ULK1Protein interaction88%
Tissue Expression6 tissues
Bone Marrow
100%
Heart
38%
Lung
37%
Brain
32%
Ovary
26%
Liver
20%
Gene Interaction Network
Click a node to explore
SMCR8MADDRAB39BLAMTOR4TANKTBK1ULK1
PROTEIN STRUCTURE
Preparing viewer…
PDB7EL6 · 2.80 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.68LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.50 [0.38–0.68]
RankingsWhere SMCR8 stands among ~20K protein-coding genes
  • #8,375of 20,598
    Most Researched54
  • #5,122of 17,882
    Most Constrained (LOEUF)0.68
Genes detectedSMCR8
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
ALS-linked C9orf72-SMCR8 complex is a negative regulator of primary ciliogenesis.
PMID: 38064514
Proc Natl Acad Sci U S A · 2023
1.00
2
C9orf72 protein quality control by UBR5-mediated heterotypic ubiquitin chains.
PMID: 37317656
EMBO Rep · 2023
0.90
3
The C9orf72-SMCR8 complex suppresses primary ciliogenesis as a RAB8A GAP.
PMID: 38293807
Autophagy · 2024
0.80
4
C9orf72 ALS-FTD: recent evidence for dysregulation of the autophagy-lysosome pathway at multiple levels.
PMID: 33632058
Autophagy · 2021
0.70
5
Multifaceted role of SMCR8 as autophagy regulator.
PMID: 28696821
Small GTPases · 2020
0.60