SCAMP5

Chr 15q24.2

secretory carrier membrane protein 5

Aliases:: MGC24969
MANE:: ENST00000425597.8

OMIM: 613766 ↗NCBI: 192683 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

SCAMP5 · Q8TAC9

v62025-08-01

Predicted Aligned Error matrix for SCAMP5 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

86.4/ 100

Confident

235 residues

Confidence breakdown

Very high(≥ 90)62%
Confident(70–90)21%
Low(50–70)11%
Very low(< 50)6%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Early onset or syndromic epilepsy
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Disease associations (Open Targets)

Global developmental delay
0.46
Intellectual disability
0.46
Seizure
0.46
Atypical behavior
0.46
hereditary disease
0.41
neurodegenerative disease
0.36
neurodevelopmental disorder
0.27
macrocephaly-developmental delay syndrome
0.27
liver disorder
0.18
systemic lupus erythematosus
0.09

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

Protein function (UniProt)

Secretory carrier-associated membrane protein 5

Required for the calcium-dependent exocytosis of signal sequence-containing cytokines such as CCL5. Probably acts in cooperation with the SNARE machinery. May play a role in accumulation of expanded polyglutamine (polyQ) protein huntingtin (HTT) in case of endoplasmic reticulum stress by inhibiting the endocytosis pathway