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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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TMEM259
transmembrane protein 259
Chromosome 19 · 19p13.3
NCBI Gene: 91304Ensembl: ENSG00000182087.15HGNC: HGNC:17039UniProt: B3KTL0
37PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
response to endoplasmic reticulum stresspositive regulation of ERAD pathwayendoplasmic reticulumendoplasmic reticulum membraneretinitis pigmentosaneurodegenerative diseaseasthmaAlzheimer disease
✦AI Summary

TMEM259 (Membralin) is a multi-pass endoplasmic reticulum (ER) membrane protein that functions as a selective autophagy receptor in ER-associated protein quality control pathways 1. The protein assembles degradation complexes by recruiting MAN1B1 (α-mannosidase) through its luminal domains and VCP/p97 ATPase through its cytoplasmic regions, while containing a functional LC3-interacting region (LIR) motif in its cytoplasmic tail for autophagic delivery 2. TMEM259 demonstrates remarkable substrate specificity, primarily targeting viral class I fusion glycoproteins including SARS-CoV-2 spike, Ebola GP, influenza HA, and HIV-1 Env proteins through a ubiquitin-independent ER-to-lysosome-associated degradation (ERLAD) pathway, while misfolded host proteins are processed through conventional ERAD mechanisms 3. The protein plays critical roles in neuronal health, as astrocyte-specific deletion causes ALS-like motor defects by dysregulating glutamate homeostasis through reduced EAAT2 expression and TNF receptor activation 4. TMEM259 deficiency is associated with Alzheimer's disease pathogenesis, where reduced levels correlate with enhanced γ-secretase activity and increased β-amyloid pathology 5. Additionally, TMEM259 shows tumor-associated expression patterns in ovarian carcinomas, with tissue-specific splice variants 6.

Sources cited
1
TMEM259 is part of an ERAD complex with RNF185, TMUB1/2 that degrades membrane proteins with substrate specificity
PMID: 32738194
2
TMEM259 assembles MAN1B1-VCP complex and contains LIR motif for targeting viral glycoproteins to lysosomes
PMID: 41324484
3
TMEM259 functions as non-canonical ER-phagy receptor with ubiquitin-independent ERLAD pathway for viral proteins
PMID: 41799849
4
Astrocytic TMEM259 deletion causes ALS-like motor defects through glutamate homeostasis dysregulation and EAAT2 reduction
PMID: 31112137
5
TMEM259 deficiency in Alzheimer's disease correlates with enhanced γ-secretase activity and β-amyloid pathology
PMID: 29133892
6
TMEM259 shows tumor-associated expression with tissue-specific splice variants in ovarian carcinomas
PMID: 16084606
Disease Associationsⓘ20
retinitis pigmentosaOpen Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.28Weak
asthmaOpen Targets
0.27Weak
Alzheimer diseaseOpen Targets
0.09Suggestive
age-related macular degenerationOpen Targets
0.06Suggestive
chronic rhinosinusitisOpen Targets
0.06Suggestive
COVID-19Open Targets
0.06Suggestive
Nasal Cavity PolypOpen Targets
0.04Suggestive
complicationOpen Targets
0.03Suggestive
hemorrhageOpen Targets
0.02Suggestive
neoplasmOpen Targets
0.01Suggestive
motor neuron diseaseOpen Targets
0.01Suggestive
ovarian carcinomaOpen Targets
0.01Suggestive
ovarian serous carcinomaOpen Targets
0.01Suggestive
ependymomaOpen Targets
0.00Suggestive
ovarian cancerOpen Targets
0.00Suggestive
oligodendrogliomaOpen Targets
0.00Suggestive
severe malarial anemiaOpen Targets
0.00Suggestive
memory impairmentOpen Targets
0.00Suggestive
Mental deteriorationOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
TMUB2Protein interaction88%TMUB1Protein interaction88%RNF185Protein interaction88%SNRNP70Protein interaction76%TMX1Shared pathway50%TTC23LShared pathway50%
Tissue Expression6 tissues
Liver
100%
Lung
81%
Ovary
69%
Bone Marrow
54%
Heart
30%
Brain
18%
Gene Interaction Network
Click a node to explore
TMEM259TMUB2TMUB1RNF185SNRNP70TMX1TTC23L
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q4ZIN3
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.97LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.69 [0.51–0.97]
RankingsWhere TMEM259 stands among ~20K protein-coding genes
  • #10,710of 20,598
    Most Researched37
  • #9,207of 17,882
    Most Constrained (LOEUF)0.97
Genes detectedTMEM259
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Quality Control of ER Membrane Proteins by the RNF185/Membralin Ubiquitin Ligase Complex.
PMID: 32738194
Mol Cell · 2020
1.00
2
Meta-analysis of human and mouse ALS astrocytes reveals multi-omic signatures of inflammatory reactive states.
PMID: 34963663
Genome Res · 2022
0.90
3
Membralin Assembles a MAN1B1-VCP Complex to Target Foreign Glycoproteins from the Endoplasmic Reticulum to Lysosomes for Degradation.
PMID: 41324484
Adv Sci (Weinh) · 2026
0.80
4
TMEM259/MEMBRALIN is a non-canonical ER-phagy receptor that associates with MAN1B1 and VCP to eliminate viral glycoproteins.
PMID: 41799849
Autophagy Rep · 2026
0.70
5
Membralin deficiency dysregulates astrocytic glutamate homeostasis leading to ALS-like impairment.
PMID: 31112137
J Clin Invest · 2019
0.60