HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
SYP
synaptophysin
Chromosome X Β· Xp11.23
NCBI Gene: 6855Ensembl: ENSG00000102003.13HGNC: HGNC:11506UniProt: P08247
105PubMed Papers
21Diseases
0Drugs
12Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedHub Gene
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingcholesterol bindingneuron projectionpresynaptic active zoneX-linked non-syndromic intellectual disabilitynon-syndromic X-linked intellectual disabilityneurodegenerative diseaseNeurodevelopmental delay
✦AI Summary

Synaptophysin (SYP) is a transmembrane glycoprotein localized to synaptic vesicles and neuroendocrine microvesicles 1 that regulates neurotransmitter release and synaptic plasticity 2. SYP functions in synaptic vesicle organization and targeting, and regulates both short-term and long-term synaptic plasticity through mechanisms involving protein binding and cholesterol interactions. At the molecular level, SYP serves as a structural organizer of membrane components and facilitates vesicle trafficking to the presynaptic membrane 1. Disease relevance is significant: SYP mutations cause X-linked intellectual developmental disorder 96, identified through systematic X-chromosome X screens 3. Additionally, SYP is upregulated as a neuroendocrine differentiation marker in aggressive prostate cancer progression, particularly in castration-resistant and neuroendocrine prostate cancer where MUC1-C activation drives SYP expression 45. Genetic polymorphisms in SYP (rs2293945 and rs3817678) associate with attention-deficit/hyperactivity disorder susceptibility in Korean children, particularly in females 2. Furthermore, SYP puncta within microglia serve as synaptic engulfment markers after stroke, with STING inhibition reducing microglial phagocytosis of SYP-positive synapses and improving motor recovery 6. These findings establish SYP as both a critical synaptic function protein and a biomarker for neurological and neuroendocrine diseases.

Sources cited
1
SYP mutations identified in X-linked mental retardation families through systematic X-chromosome resequencing
PMID: 19377476
2
SYP is an neuroendocrine differentiation marker upregulated in prostate cancer progression
PMID: 31953400
3
SYP used as a synaptic marker in Alzheimer disease and tauopathy research
PMID: 39171695
4
SYP puncta in microglia represent engulfed synapses after stroke; STING inhibition reduces synaptic engulfment
PMID: 38584255
5
SYP gene polymorphisms (rs2293945, rs3817678) associate with ADHD susceptibility in Korean children
PMID: 37133725
6
SYP is a neuroendocrine biomarker for neuroendocrine prostate cancer diagnosis
PMID: 39682746
7
SYP is a transmembrane glycoprotein in presynaptic vesicles; serves as synaptic marker for morphological studies
PMID: 25958734
Disease Associationsβ“˜21
X-linked non-syndromic intellectual disabilityOpen Targets
0.75Strong
non-syndromic X-linked intellectual disabilityOpen Targets
0.42Moderate
neurodegenerative diseaseOpen Targets
0.37Weak
Neurodevelopmental delayOpen Targets
0.27Weak
genetic disorderOpen Targets
0.19Weak
neoplasmOpen Targets
0.11Weak
attention deficit hyperactivity disorderOpen Targets
0.11Weak
attention deficit-hyperactivity disorder 8Open Targets
0.09Suggestive
hereditary attention deficit-hyperactivity disorderOpen Targets
0.09Suggestive
intellectual disability, autosomal recessive 59Open Targets
0.09Suggestive
schizophrenia 15Open Targets
0.09Suggestive
breast cancerOpen Targets
0.08Suggestive
colorectal carcinomaOpen Targets
0.08Suggestive
Alzheimer diseaseOpen Targets
0.08Suggestive
schizophreniaOpen Targets
0.07Suggestive
adenocarcinomaOpen Targets
0.06Suggestive
Phelan-McDermid syndromeOpen Targets
0.06Suggestive
diabetes mellitusOpen Targets
0.06Suggestive
congenital primary aphakiaOpen Targets
0.06Suggestive
strokeOpen Targets
0.06Suggestive
Intellectual developmental disorder, X-linked 96UniProt
Pathogenic Variants12
NM_003179.3(SYP):c.103-1G>ALikely pathogenic
Intellectual disability, X-linked 96
β˜…β˜†β˜†β˜†2025
NM_003179.3(SYP):c.726del (p.Lys242fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 242
NM_003179.3(SYP):c.277A>T (p.Lys93Ter)Likely pathogenic
Intellectual disability, X-linked 96
β˜…β˜†β˜†β˜†2025β†’ Residue 93
NM_003179.3(SYP):c.874C>T (p.Gln292Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 292
NM_003179.3(SYP):c.583_584del (p.Asp195fs)Pathogenic
Intellectual disability, X-linked 96
β˜…β˜†β˜†β˜†2024β†’ Residue 195
NM_003179.3(SYP):c.2T>C (p.Met1Thr)Likely pathogenic
Intellectual disability, X-linked 96
β˜…β˜†β˜†β˜†2022β†’ Residue 1
NM_003179.3(SYP):c.829_832del (p.Asp277fs)Likely pathogenic
not provided|Intellectual disability, X-linked 96
β˜…β˜†β˜†β˜†2020β†’ Residue 277
NM_003179.3(SYP):c.684G>A (p.Trp228Ter)Likely pathogenic
Neurodevelopmental delay
β˜…β˜†β˜†β˜†β†’ Residue 228
NM_003179.3(SYP):c.615+2T>CLikely pathogenic
Intellectual disability, X-linked 96
β˜…β˜†β˜†β˜†
NM_003179.3(SYP):c.274dup (p.Thr92fs)Pathogenic
Intellectual disability, X-linked 96
β˜†β˜†β˜†β˜†2009β†’ Residue 92
NM_003179.3(SYP):c.177_178delinsGT (p.Asn59_Lys60delinsLysTer)Pathogenic
Intellectual disability, X-linked 96
β˜†β˜†β˜†β˜†2009β†’ Residue 59
NM_003179.3(SYP):c.649G>C (p.Gly217Arg)Pathogenic
Intellectual disability, X-linked 96
β˜†β˜†β˜†β˜†2009β†’ Residue 217
View on ClinVar β†—
Related Genes
KIF1AProtein interaction99%SNAP25Protein interaction99%SEPTIN5Protein interaction98%DLG4Protein interaction98%SYT1Protein interaction95%DNAJC5Protein interaction93%
Tissue Expression6 tissues
Brain
100%
Heart
1%
Lung
1%
Bone Marrow
1%
Ovary
1%
Liver
1%
Gene Interaction Network
Click a node to explore
SYPKIF1ASNAP25SEPTIN5DLG4SYT1DNAJC5
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt P08247
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.26Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.08 [0.03–0.26]
RankingsWhere SYP stands among ~20K protein-coding genes
  • #4,564of 20,598
    Most Researched105 Β· top quartile
  • #2,665of 5,498
    Most Pathogenic Variants12
  • #834of 17,882
    Most Constrained (LOEUF)0.26 Β· top 5%
Genes detectedSYP
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.
PMID: 19377476
Nat Genet Β· 2009
1.00
2
PMID: 40245234
0.90
3
MUC1-C regulates lineage plasticity driving progression to neuroendocrine prostate cancer.
PMID: 31953400
Nat Commun Β· 2020
0.80
4
Mitochondrial bioenergetics stimulates autophagy for pathological MAPT/Tau clearance in tauopathy neurons.
PMID: 39171695
Autophagy Β· 2025
0.70
5
STING inhibition suppresses microglia-mediated synapses engulfment and alleviates motor functional deficits after stroke.
PMID: 38584255
J Neuroinflammation Β· 2024
0.60