SCAMP5 (secretory carrier membrane protein 5)

2014-11-01  

Identity

HGNC
LOCATION
15q24.2
LOCUSID
ALIAS
-
FUSION GENES

Other Information

Locus ID:

NCBI: 192683
MIM: 613766
HGNC: 30386
Ensembl: ENSG00000198794

Variants:

dbSNP: 192683
ClinVar: 192683
TCGA: ENSG00000198794
COSMIC: SCAMP5

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000198794ENST00000361900Q8TAC9
ENSG00000198794ENST00000361900A0A0A8K8F5
ENSG00000198794ENST00000425597Q8TAC9
ENSG00000198794ENST00000425597A0A0A8K8F5
ENSG00000198794ENST00000562212Q8TAC9
ENSG00000198794ENST00000562327H3BS22
ENSG00000198794ENST00000562765H3BP89
ENSG00000198794ENST00000564491H3BP89
ENSG00000198794ENST00000564779H3BNW6
ENSG00000198794ENST00000565989H3BTD1
ENSG00000198794ENST00000566872H3BNB3
ENSG00000198794ENST00000567529H3BP89
ENSG00000198794ENST00000567920H3BNH7
ENSG00000198794ENST00000568018H3BT30
ENSG00000198794ENST00000568081H3BMY4
ENSG00000198794ENST00000568119H3BU33
ENSG00000198794ENST00000568423H3BP89

Expression (GTEx)

0
50
100
150
200
250
300

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
200713472010SCAMP5, NBEA and AMISYN: three candidate genes for autism involved in secretion of large dense-core vesicles.36
192400332009SCAMP5 links endoplasmic reticulum stress to the accumulation of expanded polyglutamine protein aggregates via endocytosis inhibition.19
192341942009Human SCAMP5, a novel secretory carrier membrane protein, facilitates calcium-triggered cytokine secretion by interaction with SNARE machinery.11
320203632020Deficiency of SCAMP5 leads to pediatric epilepsy and dysregulation of neurotransmitter release in the brain.0

Citation

Dessen P

SCAMP5 (secretory carrier membrane protein 5)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/72999/scamp5