Gene Gene information from NCBI Gene database.
Entrez ID 192683
Gene name Secretory carrier membrane protein 5
Gene symbol SCAMP5
Synonyms (NCBI Gene)
-
Chromosome 15
Chromosome location 15q24.2
miRNA miRNA information provided by mirtarbase database.
294
miRTarBase ID miRNA Experiments Reference
MIRT036311 hsa-miR-1229-3p CLASH 23622248
MIRT468788 hsa-miR-3154 PAR-CLIP 23592263
MIRT468787 hsa-miR-5584-5p PAR-CLIP 23592263
MIRT468786 hsa-miR-5681a PAR-CLIP 23592263
MIRT468784 hsa-miR-7515 PAR-CLIP 23592263
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
25
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IDA 19234194
GO:0000139 Component Golgi membrane IEA
GO:0001819 Process Positive regulation of cytokine production IDA 19234194
GO:0005515 Function Protein binding IPI 15840657, 19234194, 32296183
GO:0005768 Component Endosome IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
613766 30386 ENSG00000198794
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8TAC9
Protein name Secretory carrier-associated membrane protein 5 (Secretory carrier membrane protein 5) (hSCAMP5)
Protein function 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)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04144 SCAMP 5 179 SCAMP family Family
Tissue specificity TISSUE SPECIFICITY: Expressed both by neuronal and non-neuronal tissues. Expressed in brain, stomach, thyroid, spinal cord, lymph node, trachea, adrenal gland, bone marrow and in the different parts of brain. In thyroid tissues, it is expressed by the fol
Sequence
Sequence length 235
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
5
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Macrocephaly-developmental delay syndrome Conflicting classifications of pathogenicity rs1184981709 RCV003444151
Neurodevelopmental disorder Conflicting classifications of pathogenicity rs1184981709 RCV006446021
SCAMP5-related disorder Conflicting classifications of pathogenicity rs1184981709 RCV005866804
SCAMP5-related neurodevelopmental and movement disorder Conflicting classifications of pathogenicity rs1184981709 RCV005626327
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Ataxia Telangiectasia Associate 37389974
Autism Spectrum Disorder Associate 38057311
Autistic Disorder Associate 29562188
Carcinogenesis Associate 34426610
Depressive Disorder Inhibit 29562188
Epilepsy Associate 37389974
Glioma Associate 40184123
Hypersensitivity Delayed Associate 37389974
Immunologic Deficiency Syndromes Associate 40184123
Leukemia Myeloid Acute Associate 34426610