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25 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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SEC61B
SEC61 translocon subunit beta
Chromosome 9 · 9q22.33
NCBI Gene: 10952Ensembl: ENSG00000106803.11HGNC: HGNC:16993UniProt: P60468
161PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneTransporter
RESEARCH IMPACT
Trending
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
RNA bindingERAD pathwaymembraneendoplasmic reticulumneurodegenerative diseaseasthmalower respiratory tract diseasecholelithiasis
✦AI Summary

SEC61B encodes a core component of the SEC61 translocon complex, which mediates cotranslational translocation of signal peptide-containing precursor polypeptides across the endoplasmic reticulum (ER) membrane 1. The protein functions as both a ribosome receptor and gated pore in the ER membrane, essential for nascent polypeptide translocation 1. SEC61B cooperates with TRAM1 to import newly synthesized proteins into the ER and mediates membrane insertion of initial transmembrane segments of multi-pass proteins, with subsequent segments inserted by the multi-pass translocon complex 1234. SEC61B mutations cause autosomal dominant polycystic liver disease (ADPLD) and contribute to autosomal dominant polycystic kidney disease (ADPKD) 56. Loss-of-function SEC61B variants trigger cyst formation through defective maturation and trafficking of polycystin-1, the central disease determinant 67. In a large clinical cohort, SEC61B variants were identified among genes causing cystic kidney disease, though less frequently than PKD1/PKD2 mutations 8. SEC61B is also implicated in ER homeostasis maintenance, as its abundance varies in cellular subdomains relevant to reticulophagy and selective ER degradation 910.

Sources cited
1
SEC61B forms the SEC61 translocon complex, functioning as a ribosome receptor and gated pore for cotranslational translocation of signal peptide-containing precursor polypeptides across the ER membrane
PMID: 12475939
2
SEC61 channel mediates membrane insertion of the first transmembrane segments of multi-pass membrane proteins
PMID: 32820719
3
Insertion of subsequent transmembrane regions of multi-pass membrane proteins is mediated by the multi-pass translocon (MPT) complex rather than SEC61
PMID: 36261522
4
SEC61 channel cooperates with translocating protein TRAM1 to import nascent proteins into the ER
PMID: 19121997
5
SEC61B mutations are associated with autosomal dominant polycystic liver disease (ADPLD)
PMID: 29038287
6
Loss-of-function mutations in SEC61B cause isolated polycystic liver disease and result in defective maturation and trafficking of polycystin-1
PMID: 28375157
7
SEC61B mutations in the ER protein biosynthetic pathway reduce functional polycystin dosage below a critical threshold, triggering cyst formation in ADPKD
PMID: 32690722
8
Loss-of-function variants in SEC61B are identified in patients with ADPKD, though less frequently than PKD1/PKD2 mutations
PMID: 36573973
9
SEC61B shows reduced abundance in certain peripheral cellular tubules when visualized using split fluorescent protein imaging
PMID: 28851864
10
SEC61B participates in reticulophagy and ER homeostasis maintenance through selective ER subdomain remodeling
PMID: 38705724
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.53Moderate
asthmaOpen Targets
0.37Weak
lower respiratory tract diseaseOpen Targets
0.31Weak
cholelithiasisOpen Targets
0.24Weak
respiratory system diseaseOpen Targets
0.21Weak
Isolated polycystic liver diseaseOpen Targets
0.18Weak
polycystic liver disease 1Open Targets
0.18Weak
placenta praeviaOpen Targets
0.16Weak
injuryOpen Targets
0.14Weak
mathematical abilityOpen Targets
0.14Weak
attention deficit hyperactivity disorderOpen Targets
0.13Weak
risk-taking behaviourOpen Targets
0.12Weak
atrial fibrillationOpen Targets
0.12Weak
substance abuseOpen Targets
0.11Weak
crush injuryOpen Targets
0.11Weak
obesityOpen Targets
0.10Weak
smoking behaviorOpen Targets
0.10Weak
chronic rhinosinusitis with nasal polypsOpen Targets
0.10Weak
Nasal Cavity PolypOpen Targets
0.10Suggestive
smoking initiationOpen Targets
0.09Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
RPL39Protein interaction100%RPL13AProtein interaction100%RPL38Protein interaction100%RPL27Protein interaction100%RPL29Protein interaction100%FAUProtein interaction100%
Tissue Expression6 tissues
Liver
100%
Bone Marrow
60%
Lung
44%
Ovary
35%
Brain
33%
Heart
17%
Gene Interaction Network
Click a node to explore
SEC61BRPL39RPL13ARPL38RPL27RPL29FAU
PROTEIN STRUCTURE
Preparing viewer…
PDB8DNZ · 2.57 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.39LoF Tolerant
pLIⓘ
0.04Tolerant
Observed/Expected LoF0.67 [0.35–1.39]
RankingsWhere SEC61B stands among ~20K protein-coding genes
  • #2,797of 20,598
    Most Researched161 · top quartile
  • #14,421of 17,882
    Most Constrained (LOEUF)1.39
Genes detectedSEC61B
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
Genetic Complexity of Autosomal Dominant Polycystic Kidney and Liver Diseases.
PMID: 29038287
J Am Soc Nephrol · 2018
1.00
2
Insights into Autosomal Dominant Polycystic Kidney Disease from Genetic Studies.
PMID: 32690722
Clin J Am Soc Nephrol · 2021
0.90
3
USP20 deubiquitinates and stabilizes the reticulophagy receptor RETREG1/FAM134B to drive reticulophagy.
PMID: 38705724
Autophagy · 2024
0.80
4
Isolated polycystic liver disease genes define effectors of polycystin-1 function.
PMID: 28375157
J Clin Invest · 2017
0.70
5
Human T-bet governs the generation of a distinct subset of CD11c
PMID: 35867801
Sci Immunol · 2022
0.64