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7 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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TMEM170A
transmembrane protein 170A
Chromosome 16 · 16q23.1
NCBI Gene: 124491Ensembl: ENSG00000166822.13HGNC: HGNC:29577UniProt: B3KT46
13PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingnuclear envelope organizationnuclear pore complex assemblyendoplasmic reticulum tubular network organizationDupuytren ContractureAbdominal Aortic Aneurysmdiverticular diseasesubarachnoid hemorrhage
✦AI Summary

TMEM170A is a transmembrane protein localized to the endoplasmic reticulum (ER) and nuclear envelope (NE) that functions as a regulator of membrane morphogenesis 1. It acts as an ER-sheet-promoting protein, with overexpression inducing ER sheet formation while downregulation specifically promotes tubular ER formation 1. TMEM170A influences NE expansion and nuclear pore complex (NPC) density, as its downregulation alters nuclear shape, decreases NPC density, and causes mislocalization of inner nuclear membrane proteins 1. Mechanistically, TMEM170A interacts with RTN4 (reticulon family member) in an antagonistic manner to regulate ER and NE organization 1. Disease relevance includes associations with multiple complex traits: TMEM170A variants showed sex-specific genetic associations with chr16 obstructive pulmonary disease (COPD) 2, genetic overlap with migraine and type 2 diabetes 3, and associations with pancreatic cancer risk 4. Additionally, the BCAR1-CFDP1-TMEM170A locus on chromosome 16.1 is associated with carotid intima-media thickness and coronary artery disease risk, with evidence suggesting BCAR1 as the primary causal gene at this locus 56.

Sources cited
1
TMEM170A localizes to ER and NE membranes, promotes ER sheet formation, and regulates NPC density and inner nuclear membrane protein localization through antagonistic interaction with RTN4
PMID: 26906412
2
TMEM170A is part of a gene-based association with sex-specific COPD risk on chromosome 16q23.1
PMID: 35308900
3
TMEM170A identified as one of 7 genes showing genetic overlap between migraine/headache and type 2 diabetes
PMID: 36292730
4
TMEM170A at the 16q23.1 locus is associated with pancreatic cancer susceptibility through genetically predicted expression
PMID: 31917448
5
TMEM170A is part of the BCAR1-CFDP1-TMEM170A locus associated with carotid intima-media thickness and coronary artery disease risk
PMID: 23152477
6
The BCAR1-CFDP1-TMEM170A locus shows sex-specific effects on carotid IMT, with BCAR1 implicated as the primary causal gene
PMID: 26276885
Disease Associationsⓘ20
Dupuytren ContractureOpen Targets
0.17Weak
Abdominal Aortic AneurysmOpen Targets
0.13Weak
diverticular diseaseOpen Targets
0.13Weak
subarachnoid hemorrhageOpen Targets
0.09Suggestive
intracranial hemorrhageOpen Targets
0.09Suggestive
aortic stenosisOpen Targets
0.08Suggestive
Palmar FibromatosisOpen Targets
0.07Suggestive
aneurysmOpen Targets
0.05Suggestive
medical procedureOpen Targets
0.05Suggestive
hypertensionOpen Targets
0.05Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.05Suggestive
coronary atherosclerosisOpen Targets
0.04Suggestive
aortic valve calcificationOpen Targets
0.04Suggestive
angina pectorisOpen Targets
0.04Suggestive
Myocardial IschemiaOpen Targets
0.04Suggestive
coronary artery diseaseOpen Targets
0.04Suggestive
occlusion precerebral arteryOpen Targets
0.03Suggestive
heart diseaseOpen Targets
0.03Suggestive
response to xenobiotic stimulusOpen Targets
0.03Suggestive
coronary artery bypassOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CFDP1Protein interaction86%REEP4Shared pathway50%REEP3Shared pathway50%REEP2Shared pathway33%NUP93Shared pathway29%REEP1Shared pathway25%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
44%
Liver
42%
Ovary
32%
Lung
25%
Heart
24%
Gene Interaction Network
Click a node to explore
TMEM170ACFDP1REEP4REEP3REEP2NUP93REEP1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8WVE7
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.91LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.46 [0.99–1.91]
RankingsWhere TMEM170A stands among ~20K protein-coding genes
  • #16,336of 20,598
    Most Researched13
  • #17,319of 17,882
    Most Constrained (LOEUF)1.91
Genes detectedTMEM170A
Sources retrieved7 papers
Response time—
📄 Sources
7▼
1
Gene-Based Analysis Reveals Sex-Specific Genetic Risk Factors of COPD.
PMID: 35308900
AMIA Annu Symp Proc · 2021
1.00
2
Transmembrane protein TMEM170A is a newly discovered regulator of ER and nuclear envelope morphogenesis in human cells.
PMID: 26906412
J Cell Sci · 2016
0.86
3
Genetic Overlap Analysis Identifies a Shared Etiology between Migraine and Headache with Type 2 Diabetes.
PMID: 36292730
Genes (Basel) · 2022
0.71
4
A Transcriptome-Wide Association Study Identifies Novel Candidate Susceptibility Genes for Pancreatic Cancer.
PMID: 31917448
J Natl Cancer Inst · 2020
0.57
5
Functional Analysis of a Carotid Intima-Media Thickness Locus Implicates BCAR1 and Suggests a Causal Variant.
PMID: 26276885
Circ Cardiovasc Genet · 2015
0.43