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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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TMEM232
transmembrane protein 232
Chromosome 5 · 5q22.1
NCBI Gene: 642987Ensembl: ENSG00000186952.16HGNC: HGNC:37270UniProt: C9JQI7
19PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
spermatogenesisflagellated sperm motilityspermatid cytoplasm removal during spermiation of flagellated spermouter dense fiberasthmaneuropathy, hereditary motor and sensory, type vibneuropathy, hereditary motor and sensory, type 6Brhinitis
✦AI Summary

TMEM232 (transmembrane protein 232) is a transmembrane protein located on chromosome 5.1 with established roles in immune regulation and skin inflammation. Primary function: TMEM232 promotes inflammatory responses in atopic dermatitis (AD) by activating nuclear factor-κB and STAT3 signaling pathways 1. The protein is regulated by the interleukin-4/STAT6 axis, which forms a self-amplifying inflammatory loop 1. Disease relevance: TMEM232 expression is significantly upregulated in AD skin lesions and in keratinocytes stimulated with inflammatory factors 1. Multiple genetic association studies confirm TMEM232 as a susceptibility gene for AD across diverse populations, with specific variants (rs11357450, rs17132261) showing strong associations 2345. TMEM232 variants interact with other AD susceptibility loci (PRKAG2, TNFRSF6B-ZGPAT) to confer disease risk 6. Interestingly, TMEM232 has also been identified in rare biallelic variants associated with autism spectrum disorder in consanguineous populations 7. Clinical significance: TMEM232 represents a potential therapeutic target, as topical application of TMEM232-targeting siRNA markedly ameliorated AD-like lesions in mouse models 1. The gene's contribution to AD risk is modulated by maternal allergic history and sensitization status 5.

Sources cited
1
TMEM232 promotes inflammatory response in AD via NF-κB and STAT3 pathways and is regulated by IL-4/STAT6 axis; siRNA targeting shows therapeutic potential
PMID: 36928730
2
TMEM232 deletion variant rs11357450 is the strongest associated variant in 5q22.1 region for AD in Chinese Han population
PMID: 28351738
3
TMEM232 gene is confirmed as AD susceptibility gene through targeted capture sequencing and haplotype analysis in Chinese Han population
PMID: 34750414
4
TMEM232-SLC25A46 locus association with AD is replicated in Japanese GWAS study
PMID: 23042114
5
TMEM232 variant rs17132261 is associated with increased AD risk in infants, modulated by maternal allergic history and sensitization
PMID: 39596646
6
TMEM232-SLC25A46 SNPs show significant gene-gene interactions with PRKAG2 and TNFRSF6B-ZGPAT in AD susceptibility
PMID: 25711310
7
TMEM232 biallelic variants identified in autism spectrum disorder cases in consanguineous Pakistani families
PMID: 38649688
Disease Associationsⓘ20
asthmaOpen Targets
0.46Moderate
neuropathy, hereditary motor and sensory, type 6BOpen Targets
0.33Weak
neuropathy, hereditary motor and sensory, type vibOpen Targets
0.33Weak
rhinitisOpen Targets
0.31Weak
upper respiratory tract disorderOpen Targets
0.30Weak
breast diseaseOpen Targets
0.30Weak
Abruptio PlacentaeOpen Targets
0.27Weak
Phenotypic abnormalityOpen Targets
0.27Weak
spondylolisthesisOpen Targets
0.26Weak
major depressive disorderOpen Targets
0.18Weak
respiratory system diseaseOpen Targets
0.17Weak
allergic rhinitisOpen Targets
0.17Weak
Abnormal nasolacrimal system morphologyOpen Targets
0.17Weak
respiratory failureOpen Targets
0.17Weak
muscular atrophyOpen Targets
0.16Weak
chronic rhinosinusitisOpen Targets
0.16Weak
dislocationOpen Targets
0.16Weak
information processing speedOpen Targets
0.15Weak
allergic conjunctivitisOpen Targets
0.14Weak
allergic diseaseOpen Targets
0.13Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CABS1Shared pathway100%RAG2Protein interaction88%FAUProtein interaction80%CATSPERGShared pathway67%CATSPERBShared pathway67%CATSPEREShared pathway67%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
49%
Heart
45%
Ovary
28%
Lung
22%
Liver
21%
Gene Interaction Network
Click a node to explore
TMEM232CABS1RAG2FAUCATSPERGCATSPERBCATSPERE
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt C9JQI7
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.30LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.06 [0.86–1.30]
RankingsWhere TMEM232 stands among ~20K protein-coding genes
  • #14,575of 20,598
    Most Researched19
  • #13,684of 17,882
    Most Constrained (LOEUF)1.30
Genes detectedTMEM232
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
TMEM232 promotes the inflammatory response in atopic dermatitis via the nuclear factor-κB and signal transducer and activator of transcription 3 signalling pathways.
PMID: 36928730
Br J Dermatol · 2023
1.00
2
Confirming the TMEM232 gene associated with atopic dermatitis through targeted capture sequencing.
PMID: 34750414
Sci Rep · 2021
0.90
3
Biallelic variants identified in 36 Pakistani families and trios with autism spectrum disorder.
PMID: 38649688
Sci Rep · 2024
0.80
4
Scanning indels in the 5q22.1 region and identification of the TMEM232 susceptibility gene that is associated with atopic dermatitis in the Chinese Han population.
PMID: 28351738
Gene · 2017
0.70
5
Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population.
PMID: 23042114
Nat Genet · 2012
0.60