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9 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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NACA2
nascent polypeptide associated complex subunit alpha 2
Chromosome 17 · 17q23.2
NCBI Gene: 342538Ensembl: ENSG00000253506.3HGNC: HGNC:23290UniProt: Q9H009
20PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneTransporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
unfolded protein bindingprotein targeting to membranecytoplasmnucleusosteoarthritis, hiptotal hip arthroplastyosteoarthritis, kneetotal joint arthroplasty
✦AI Summary

NACA2 (nascent polypeptide associated complex subunit alpha 2) is a cytoplasmic protein that prevents inappropriate targeting of non-secretory polypeptides to the endoplasmic reticulum. It functions by binding to nascent polypeptide chains as they emerge from the ribosome and blocking their interaction with the signal recognition particle (SRP), which normally directs secretory peptides to the ER for translocation. This mechanism protects the cell from mistargeting cytoplasmic proteins to the ER membrane. At the molecular level, NACA2 reduces the inherent affinity of ribosomes for protein translocation sites (M sites) in the ER membrane, providing an additional safeguard against inappropriate ER targeting. The protein exhibits unfolded protein binding capacity, suggesting involvement in protein quality control during translation. Clinically, NACA2 has been associated with skin inflammatory response phenotypes. Population genetics studies identified NACA2 as a gene influenced by extreme allele frequency differences across world populations, linking genetic variants to skin inflammatory responses 1. Additionally, a rare microduplication on chromosome 17.1q23.2 including NACA2 was identified in a clubfoot pedigree, though NACA2 itself was not implicated as a primary clubfoot causative gene 2. The protein's role in regulating protein targeting and handling may have broader implications for cellular homeostasis and disease states involving protein misfolding or trafficking defects.

Sources cited
1
NACA2 is a gene influenced by extreme allele frequency differences across populations and associated with skin inflammatory response
PMID: 27699474
2
NACA2 is located on chromosome 17q23.1q23.2 and was included in a microduplication identified in a clubfoot family
PMID: 22678995
⚠Limited data available — This gene has 2 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
osteoarthritis, hipOpen Targets
0.51Moderate
total hip arthroplastyOpen Targets
0.40Moderate
osteoarthritis, kneeOpen Targets
0.32Weak
total joint arthroplastyOpen Targets
0.31Weak
osteoarthritisOpen Targets
0.31Weak
cutaneous lupus erythematosusOpen Targets
0.28Weak
brain aneurysmOpen Targets
0.28Weak
systemic lupus erythematosusOpen Targets
0.27Weak
bone remodeling diseaseOpen Targets
0.24Weak
femoral neck fractureOpen Targets
0.13Weak
placenta praeviaOpen Targets
0.11Weak
psoriatic arthritisOpen Targets
0.10Weak
nontoxic goiterOpen Targets
0.06Suggestive
cancerOpen Targets
0.05Suggestive
goutOpen Targets
0.04Suggestive
coronary artery diseaseOpen Targets
0.04Suggestive
hypertensionOpen Targets
0.03Suggestive
open-angle glaucomaOpen Targets
0.03Suggestive
cardiovascular diseaseOpen Targets
0.03Suggestive
glaucomaOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
NACADShared pathway100%ICMTShared pathway100%ZDHHC24Shared pathway100%GOLGA7BShared pathway100%RPL12Protein interaction100%RPL39Protein interaction100%
Tissue Expression6 tissues
Ovary
100%
Lung
0%
Bone Marrow
0%
Heart
0%
Liver
0%
Brain
0%
Gene Interaction Network
Click a node to explore
NACA2NACADICMTZDHHC24GOLGA7BRPL12RPL39
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q9H009
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.02LoF Tolerant
pLIⓘ
0.02Tolerant
Observed/Expected LoF0.59 [0.35–1.02]
RankingsWhere NACA2 stands among ~20K protein-coding genes
  • #14,203of 20,598
    Most Researched20
  • #10,056of 17,882
    Most Constrained (LOEUF)1.02
Genes detectedNACA2
Sources retrieved9 papers
Response time—
📄 Sources
9▼
1
[Genetic arrhythmias and gender].
PMID: 25154209
Przegl Lek · 2014
1.00
2
Atlas of human diseases influenced by genetic variants with extreme allele frequency differences.
PMID: 27699474
Hum Genet · 2017
0.89
3
Studies of TBX4 and chromosome 17q23.1q23.2: an uncommon cause of nonsyndromic clubfoot.
PMID: 22678995
Am J Med Genet A · 2012
0.78
4
Mechanisms of myocardial cell injury during ischemia and reperfusion.
PMID: 2979987
J Card Surg · 1987
0.67
5
Role of calcium-sensing receptor in regulating activation susceptibility of postovulatory aging mouse oocytes.
PMID: 37245986
J Reprod Dev · 2023
0.56