1. Gene
  2. SYT8 - synaptotagmin 8 Gene

SYT8 - synaptotagmin 8 Gene

Homo sapiens
Gene ID: 90019 | Gene type: protein coding

About SYT8

Cytogenetic location: 11p15.5 Genomic coordinates (GRCh38): 11:1,831,784-1,837,521 (from NCBI)

This gene has 14 transcripts (splice variants), 1 gene allele, 175 orthologues and 31 paralogues. Biased expression in skin (RPKM 28.8), urinary bladder (RPKM 7.9) and 5 other tissues.

Summary

This gene encodes a member of the synaptotagmin protein family. Synaptotagmins are membrane proteins that are important in neurotransmission and hormone secretion, both of which involve regulated exocytosis. Expression of the encoded protein in human pancreatic islets has been connected to activity of the promoter for the Insulin gene, on the same chromosome several hundred kilobases away (PMID: 21336277 and 22928559). This association would link response to gluclose to Insulin secretion. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]

SYT8 Products(5)

mRNA Protein Name
NM_001290332.2 NP_001277261.2 synaptotagmin-8 isoform 1
NM_001290333.2 NP_001277262.2 synaptotagmin-8 isoform 3
NM_001290334.2 NP_001277263.2 synaptotagmin-8 isoform 4
NM_001394072.1 NP_001381001.1 synaptotagmin-8 isoform 5
NM_138567.5 NP_612634.4 synaptotagmin-8 isoform 2

SYT8 Protein Structure

C2

C2: C2 domain (135 - 216)

C2

C2: C2 domain (262 - 345)

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  • 300
  • 401 a.a.
Protein Preferred Names Protein Names

synaptotagmin-8

synaptotagmin VIII

Related Diseases

Diseases Alias
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b

Lgmd2b

Lgmd3

Limb-Girdle Muscular Dystrophy Due To Dysferlin Deficiency

Limb-Girdle Muscular Dystrophy Type 3

Muscular Dystrophy, Limb-Girdle, Type 2b

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Macaca mulatta SYT8 VGNC VGNC:78168
Canis familiaris SYT8 VGNC VGNC:47051
Mus musculus SYT8 MGD MGI:1859867
Rattus norvegicus SYT8 RGD RGD:68399
Bos taurus SYT8 VGNC VGNC:56284
Felis catus SYT8 VGNC VGNC:65903