SYP

Chr Xp11.23

synaptophysin

Aliases:: MRX96
MANE:: ENST00000263233.9

OMIM: 313475 ↗NCBI: 6855 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

SYP · P08247

v62025-08-01

Predicted Aligned Error matrix for SYP — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

76.8/ 100

Confident

313 residues

Confidence breakdown

Very high(≥ 90)41%
Confident(70–90)29%
Low(50–70)7%
Very low(< 50)23%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Disease associations (Open Targets)

X-linked non-syndromic intellectual disability
0.74
non-syndromic X-linked intellectual disability
0.42
neurodegenerative disease
0.38
Neurodevelopmental delay
0.27
hereditary disease
0.19
neoplasm
0.11
Alzheimer disease
0.09
adenocarcinoma
0.09
breast cancer
0.08
schizophrenia
0.08

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Synaptophysin

Possibly involved in structural functions as organizing other membrane components or in targeting the vesicles to the plasma membrane. Involved in the regulation of short-term and long-term synaptic plasticity (By similarity)