Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
192683
Gene name Gene Name - the full gene name approved by the HGNC.
Secretory carrier membrane protein 5
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SCAMP5
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q24.2
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
613766 30386 ENSG00000198794
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Developmental Delay global developmental delay rs1184981709 N/A
Macrocephaly-Developmental Delay Syndrome macrocephaly-developmental delay syndrome rs1184981709 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Epilepsy epilepsy N/A N/A GenCC
Neurodevelopmental Disorders complex neurodevelopmental disorder N/A N/A GenCC
Systemic lupus erythematosus Systemic lupus erythematosus N/A N/A GWAS
Associations from Text Mining Disease 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