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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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MOSPD2
motile sperm domain containing 2
Chromosome X · Xp22.2
NCBI Gene: 158747Ensembl: ENSG00000130150.12HGNC: HGNC:28381UniProt: Q8NHP6
49PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly Constrained
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingFFAT motif bindingprotein homooligomerizationpositive regulation of neutrophil chemotaxisexperimental autoimmune encephalomyelitisAbnormal posterior eye segment morphologybreast cancerretinoschisis
✦AI Summary

MOSPD2 is an endoplasmic reticulum (ER)-anchored tether protein that mediates membrane contact sites (MCS) between the ER and multiple organelles. At the molecular level, MOSPD2 contains a Major Sperm Protein domain that binds FFAT (two phenylalanines in an acidic tract) motifs on organelle-bound proteins, enabling tethering of endosomes, mitochondria, and Golgi to the ER 1. Additionally, MOSPD2 forms ER-lipid droplet contacts through direct protein-membrane interaction via an amphipathic helix that recognizes lipid packing defects, contributing to lipid droplet homeostasis 2. Beyond organellar organization, MOSPD2 promotes migration of primary monocytes and neutrophils in response to chemokines by regulating signaling cascades downstream of chemokine receptor ligation 3. Clinically, MOSPD2 has emerging significance in inflammatory disease: MOSPD2 knockout mice show suppressed experimental autoimmune encephalomyelitis development with reduced inflammatory monocyte infiltration, and anti-MOSPD2 monoclonal antibodies effectively treat CNS inflammation 4. In cancer, MOSPD2 expression is elevated in metastatic breast cancer, and its silencing impairs cancer cell migration and lung metastasis 5. Finally, MOSPD2 has been identified as an autoantigen in bacterial-associated immune infertility 6.

Sources cited
1
MOSPD2 is an ER-anchored tether protein with a Major Sperm Protein domain that binds FFAT motifs and mediates formation of contact sites between ER and endosomes, mitochondria, or Golgi
PMID: 29858488
2
MOSPD2 is a VAP family member tether protein that interacts with FFAT-containing proteins at membrane contact sites
PMID: 34359948
3
MOSPD2 regulates monocyte and neutrophil migration in response to chemokines by modulating signaling events downstream of chemokine receptor ligation
PMID: 28137892
4
MOSPD2 knockout mice show suppressed experimental autoimmune encephalomyelitis with reduced inflammatory monocytes, and anti-MOSPD2 monoclonal antibodies treat CNS inflammation
PMID: 32353176
5
MOSPD2 is highly expressed in metastatic breast cancer and promotes cancer cell migration and lung metastasis through chemotaxis signaling
PMID: 29978511
6
MOSPD2 is identified as an autoantigen in bacterial-associated immune infertility conditions
PMID: 32743492
7
MOSPD2 is identified as one of seven candidate hub genes for diagnosing osteoporosis combined with sarcopenia through machine learning analysis
PMID: 38831425
Disease Associationsⓘ20
experimental autoimmune encephalomyelitisOpen Targets
0.07Suggestive
Abnormal posterior eye segment morphologyOpen Targets
0.07Suggestive
breast cancerOpen Targets
0.07Suggestive
retinoschisisOpen Targets
0.07Suggestive
nasopharyngeal carcinomaOpen Targets
0.03Suggestive
metastatic melanomaOpen Targets
0.02Suggestive
neoplasmOpen Targets
0.02Suggestive
infectionOpen Targets
0.02Suggestive
cancerOpen Targets
0.01Suggestive
myeloid sarcomaOpen Targets
0.01Suggestive
breast neoplasmOpen Targets
0.01Suggestive
colitisOpen Targets
0.01Suggestive
infertilityOpen Targets
0.01Suggestive
osteosarcomaOpen Targets
0.01Suggestive
osteoporosisOpen Targets
0.00Suggestive
sarcopeniaOpen Targets
0.00Suggestive
carcinomaOpen Targets
0.00Suggestive
invasive breast ductal carcinomaOpen Targets
0.00Suggestive
melanomaOpen Targets
0.00Suggestive
metastatic neoplasmOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
OSBPL1AProtein interaction96%RMDN3Protein interaction93%OSBPProtein interaction79%VAPAProtein interaction72%STARD3Protein interaction72%STARD3NLProtein interaction72%
Tissue Expression6 tissues
Brain
100%
Lung
82%
Bone Marrow
73%
Ovary
65%
Heart
62%
Liver
46%
Gene Interaction Network
Click a node to explore
MOSPD2OSBPL1ARMDN3OSBPVAPASTARD3STARD3NL
PROTEIN STRUCTURE
Preparing viewer…
PDB6TQT · 1.50 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.25Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.12 [0.06–0.25]
RankingsWhere MOSPD2 stands among ~20K protein-coding genes
  • #8,980of 20,598
    Most Researched49
  • #783of 17,882
    Most Constrained (LOEUF)0.25 · top 5%
Genes detectedMOSPD2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Identification of shared gene signatures and pathways for diagnosing osteoporosis with sarcopenia through integrated bioinformatics analysis and machine learning.
PMID: 38831425
BMC Musculoskelet Disord · 2024
1.00
2
The Interactome of the VAP Family of Proteins: An Overview.
PMID: 34359948
Cells · 2021
0.90
3
Toxoplasma gondii VIP1 mediates parasitophorous vacuole-host endoplasmic reticulum interactions to facilitate parasite development.
PMID: 41073664
Nat Microbiol · 2025
0.80
4
Newly characterized motile sperm domain-containing protein 2 promotes human breast cancer metastasis.
PMID: 29978511
Int J Cancer · 2019
0.70
5
Identification of MOSPD2, a novel scaffold for endoplasmic reticulum membrane contact sites.
PMID: 29858488
EMBO Rep · 2018
0.60