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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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TMEM79
transmembrane protein 79
Chromosome 1 · 1q22
NCBI Gene: 84283Ensembl: ENSG00000163472.20HGNC: HGNC:28196UniProt: Q9BSE2
31PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingidentical protein bindingepithelial cell maturationregulated exocytosisAlopecia universalisuncombable hair syndromeringed hair diseaseAlopecia-intellectual disability syndrome
✦AI Summary

TMEM79 (transmembrane protein 79) is a multi-span transmembrane protein that functions as a critical regulator of skin barrier integrity and immune homeostasis. Primarily, TMEM79 contributes to epidermal barrier function through its involvement in the lamellar granule secretory system and stratum corneum formation 1. Mechanistically, TMEM79 operates through multiple pathways: it negatively regulates Wnt/Frizzled signaling by suppressing USP8-mediated deubiquitination of Frizzled receptors, promoting their degradation 2, and acts as a negative regulator of TRPV3 thermoreceptors by promoting lysosomal degradation and modulating their cellular translocation 3. Additionally, TMEM79 confers protection from oxidative stress accumulation in keratinocytes and sensory neurons 4. Clinically, TMEM79 mutations have significant disease relevance. Loss of keratinocytic TMEM79 is sufficient to trigger atopic dermatitis through mast cell accumulation and histaminergic itch pathways 4, and a missense SNP (rs6684514) in human TMEM79 shows association with AD susceptibility 1. Beyond dermatology, TMEM79 demonstrates broader pathophysiological roles: it ameliorates cerebral ischemia/reperfusion injury via the Nrf2/NLRP3 pathway 5, and elevated TMEM79 expression correlates with prognostic outcomes in hepatocellular carcinoma and prostate cancer through modulation of immune infiltration and drug sensitivity 67. These findings establish TMEM79 as a multifunctional regulator relevant to inflammatory, neurological, and malignant diseases.

Sources cited
1
Tmem79 mutations cause defective skin barrier, spontaneous dermatitis and atopy; human TMEM79 SNP rs6684514 associates with atopic dermatitis
PMID: 24084074
2
TMEM79 inhibits Wnt/Frizzled signaling by suppressing USP8 deubiquitination of Frizzled, required for neural development; is atopic dermatitis predisposition gene
PMID: 32924931
3
TMEM79 acts as negative regulator of TRPV3, promotes its degradation and modulates thermosensation in mouse keratinocytes
PMID: 37474531
4
Loss of keratinocytic Tmem79 causes robust scratching through mast cell accumulation and histaminergic itch; TMEM79 protects from oxidative stress
PMID: 30463955
5
TMEM79 overexpression ameliorates cerebral ischemia/reperfusion injury by regulating Nrf2/NLRP3 pathway and reducing inflammation and oxidative stress
PMID: 38809063
6
TMEM79 overexpression in hepatocellular carcinoma correlates with prognosis, immune infiltration, and drug sensitivity
PMID: 37936239
7
TMEM79 identified as putative diagnostic marker in prostate cancer with elevated tissue-specific expression
PMID: 26237329
Disease Associationsⓘ20
Alopecia universalisOpen Targets
0.10Suggestive
uncombable hair syndromeOpen Targets
0.09Suggestive
ringed hair diseaseOpen Targets
0.09Suggestive
Alopecia-intellectual disability syndromeOpen Targets
0.09Suggestive
hypotrichosis simplexOpen Targets
0.09Suggestive
hypotrichosis 4Open Targets
0.08Suggestive
hepatocellular carcinomaOpen Targets
0.08Suggestive
alopecia universalis congenitaOpen Targets
0.08Suggestive
wooly hair, autosomal recessive 3Open Targets
0.08Suggestive
pili bifurcatiOpen Targets
0.08Suggestive
Griscelli diseaseOpen Targets
0.08Suggestive
Trichodysplasia - xerodermaOpen Targets
0.08Suggestive
trichodysplasia-xeroderma syndromeOpen Targets
0.08Suggestive
Marie Unna hereditary hypotrichosisOpen Targets
0.08Suggestive
Griscelli disease type 3Open Targets
0.08Suggestive
Griscelli syndrome type 3Open Targets
0.08Suggestive
Graham Little-Piccardi-Lassueur syndromeOpen Targets
0.08Suggestive
uncombable hair syndrome 3Open Targets
0.07Suggestive
monilethrix-1Open Targets
0.07Suggestive
isolated familial wooly hair disorderOpen Targets
0.07Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SFTPCProtein interaction77%HRNRShared pathway33%RAB11FIP1Shared pathway33%FLG2Shared pathway25%CYSRT1Shared pathway25%ELAPOR2Shared pathway25%
Tissue Expression6 tissues
Liver
100%
Ovary
50%
Bone Marrow
50%
Lung
45%
Brain
36%
Heart
30%
Gene Interaction Network
Click a node to explore
TMEM79SFTPCHRNRRAB11FIP1FLG2CYSRT1ELAPOR2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9BSE2
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.30LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.96 [0.72–1.30]
RankingsWhere TMEM79 stands among ~20K protein-coding genes
  • #11,814of 20,598
    Most Researched31
  • #13,705of 17,882
    Most Constrained (LOEUF)1.30
Genes detectedTMEM79
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Tmem79/Matt is the matted mouse gene and is a predisposing gene for atopic dermatitis in human subjects.
PMID: 24084074
J Allergy Clin Immunol · 2013
1.00
2
Thermosensation and TRP Channels.
PMID: 39289270
Adv Exp Med Biol · 2024
0.90
3
TMEM79/MATTRIN defines a pathway for Frizzled regulation and is required for
PMID: 32924931
Elife · 2020
0.80
4
Involvement of skin TRPV3 in temperature detection regulated by TMEM79 in mice.
PMID: 37474531
Nat Commun · 2023
0.70
5
Analysis of the Human Prostate-Specific Proteome Defined by Transcriptomics and Antibody-Based Profiling Identifies TMEM79 and ACOXL as Two Putative, Diagnostic Markers in Prostate Cancer.
PMID: 26237329
PLoS One · 2015
0.60