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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SMIM20
small integral membrane protein 20
Chromosome 4 · 4p15.2
NCBI Gene: 389203Ensembl: ENSG00000250317.10HGNC: HGNC:37260UniProt: E5RH91
14PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
mitochondrionmitochondrial respiratory chain complex IV assemblymitochondrial inner membraneprotein bindingAbnormality of the skeletal systemIron deficiency anemiarheumatoid arthritisHodgkins lymphoma
✦AI Summary

SMIM20 (small integral membrane protein 20) is a gene encoding a peptide precursor for phoenixin, a pleiotropic neuropeptide with roles extending beyond reproduction. Phoenixin is generated through proteolytic cleavage of SMIM20 and mediates its biological functions primarily via GPR173 receptor activation 1. In the reproductive system, phoenixin potentiates luteinizing hormone secretion, controls estrus cycle timing, and stimulates oocyte maturation 21. The peptide operates through PKA-dependent signaling in hypothalamic neurons and modulates kisspeptin and GnRH gene expression 2. Beyond reproduction, phoenixin exerts anxiolytic and anti-inflammatory effects while supporting memory and energy metabolism 1. In adipose tissue, phoenixin promotes white adipogenesis through cAMP/Epac-dependent pathways, with serum levels positively correlating with BMI 3. SMIM20 is expressed throughout the gastrointestinal tract and regulates food intake 4. At the molecular level, SMIM20 DNA methylation inversely associates with oxidative stress biomarkers and mediates metal-induced oxidative DNA damage 5. Clinically, dysregulation is implicated in endometriosis, where reduced phoenixin levels impair ectopic endometrial function 6. A SMIM20-derived long non-coding RNA shows poor prognostic value in acute myeloid leukemia 7.

Sources cited
1
Phoenixin is a cleaved product of SMIM20, mediates effects via GPR173, and has pleiotropic functions in CNS, reproduction, heart, ovaries, adipose tissue, and pancreatic islets
PMID: 33171667
2
Phoenixin increases GnRH-stimulated LH release, stimulates kisspeptin and GnRH expression, signals through PKA in hypothalamic neurons
PMID: 29671415
3
Phoenixin-14 stimulates preadipocyte differentiation via cAMP/Epac-dependent mechanism and promotes white adipogenesis
PMID: 30251651
4
SMIM20 DNA methylation inversely associates with oxidative stress biomarkers and mediates metal-induced oxidative DNA damage
PMID: 40840620
5
Phoenixin-14 and SMIM20 are expressed in endometrium with reduced serum levels in endometriosis
PMID: 36706704
6
SMIM20 and GPR173 are expressed throughout the gastrointestinal tract and regulate food intake
PMID: 38203717
7
A long non-coding RNA derived from SMIM20 locus is upregulated in AML and serves as a poor prognostic factor
PMID: 35894677
Disease Associationsⓘ20
Abnormality of the skeletal systemOpen Targets
0.19Weak
Iron deficiency anemiaOpen Targets
0.18Weak
rheumatoid arthritisOpen Targets
0.17Weak
Hodgkins lymphomaOpen Targets
0.15Weak
Dupuytren ContractureOpen Targets
0.14Weak
hypothyroidismOpen Targets
0.14Weak
metabolic syndromeOpen Targets
0.12Weak
type 1 diabetes mellitusOpen Targets
0.11Weak
alcohol drinkingOpen Targets
0.11Weak
autoimmune diseaseOpen Targets
0.11Weak
ACPA-positive rheumatoid arthritisOpen Targets
0.11Weak
myxedemaOpen Targets
0.10Weak
autoimmune thyroid diseaseOpen Targets
0.10Suggestive
thyroid diseaseOpen Targets
0.10Suggestive
biliary tract diseaseOpen Targets
0.09Suggestive
osteoarthritis, kneeOpen Targets
0.08Suggestive
total knee arthroplastyOpen Targets
0.08Suggestive
Hashimoto's thyroiditisOpen Targets
0.08Suggestive
Romano-Ward syndromeOpen Targets
0.08Suggestive
Crohn's diseaseOpen Targets
0.08Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
COX17Shared pathway100%COX16Shared pathway100%COA4Shared pathway100%TMEM223Shared pathway100%COX20Shared pathway100%PET117Shared pathway100%
Tissue Expression6 tissues
Heart
100%
Liver
72%
Ovary
64%
Brain
50%
Lung
43%
Bone Marrow
34%
Gene Interaction Network
Click a node to explore
SMIM20COX17COX16COA4TMEM223COX20PET117
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q8N5G0
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.91LoF Tolerant
pLIⓘ
0.46Tolerant
Observed/Expected LoF0.35 [0.16–0.91]
RankingsWhere SMIM20 stands among ~20K protein-coding genes
  • #16,001of 20,598
    Most Researched14
  • #8,270of 17,882
    Most Constrained (LOEUF)0.91
Genes detectedSMIM20
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Phoenixin: More than Reproductive Peptide.
PMID: 33171667
Int J Mol Sci · 2020
1.00
2
DNA methylation signature of oxidative stress and its mediating role in response to metal exposure.
PMID: 40840620
Free Radic Biol Med · 2025
0.90
3
The role of phoenixin in the proliferation and migration of ectopic epithelial cells in vitro.
PMID: 36706704
Biochem Biophys Res Commun · 2023
0.80
4
Phoenixin-14 stimulates differentiation of 3T3-L1 preadipocytes via cAMP/Epac-dependent mechanism.
PMID: 30251651
Biochim Biophys Acta Mol Cell Biol Lipids · 2018
0.70
5
Prognostic value and potential mechanism of long non-coding RNA Lnc-SMIM20-1 in acute myeloid leukemia.
PMID: 35894677
Expert Rev Anticancer Ther · 2022
0.60