SYT14 - synaptotagmin 14 Gene

Also Known as SCAR11; sytXIV

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 255928

About SYT14

Cytogenetic location: 1q32.2 Genomic coordinates (GRCh38): 1:209,938,217-210,171,389 (from NCBI)

This gene has 10 transcripts (splice variants), 200 orthologues, 31 paralogues and is associated with 2 phenotypes. Biased expression in thyroid (RPKM 3.5), testis (RPKM 1.3) and 2 other tissues.

Summary

This gene is a member of the synaptotagmin gene family and encodes a protein similar to Other family members that mediate membrane trafficking in synaptic transmission. The encoded protein is a calcium-independent synaptotagmin. Mutations in this gene are a cause of autosomal recessive spinocerebellar ataxia-11 (SCAR11), and a t(1;3) translocation of this gene has been associated with neurodevelopmental abnormalities. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 4. [provided by RefSeq, Dec 2011]

SYT14 Products (7)

mRNA Protein Name
NM_001146261.4 NP_001139733.1 synaptotagmin-14 isoform 1
NM_001146262.4 NP_001139734.1 synaptotagmin-14 isoform 3
NM_001146264.4 NP_001139736.1 synaptotagmin-14 isoform 2
NM_001256006.3 NP_001242935.1 synaptotagmin-14 isoform 5
NM_001397544.1 NP_001384473.1 synaptotagmin-14 isoform 6
NM_001397545.1 NP_001384474.1 synaptotagmin-14 isoform 6
NM_153262.5 NP_694994.2 synaptotagmin-14 isoform 4

SYT14 Protein Structure

C2

C2: C2 domain (277 - 361)

C2

C2: C2 domain (432 - 519)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 555 a.a.
Protein Preferred Names Protein Names

synaptotagmin-14

  • synaptotagmin XIV

Related Diseases

Diseases Alias
Spinocerebellar Ataxia, Autosomal Recessive 11

  • SCAR11

  • Autosomal Recessive Spinocerebellar Ataxia 11

  • Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome

  • Autosomal Recessive Spinocerebellar Ataxia Type 11

  • Spinocerebellar Ataxia, Autosomal Recessive, 11

  • Ataxia, Spinocerebellar, Autosomal Recessive, Type 11
Spinocerebellar Ataxia 11

  • Spinocerebellar Ataxia Type 11

  • SCA11

  • Spinocerebellar Ataxia-11

  • Ataxia, Spinocerebellar, Type 11
Benign Familial Infantile Epilepsy

  • Benign Familial Infantile Seizures

  • Bfie

  • Benign Familial Infantile Convulsion

  • Bfic

  • Bfis

  • Benign Familial Infantile Convulsions

  • Familial Benign Neonatal Epilepsy

  • Watanabe-Vigevano Syndrome
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

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS14111 SYT14 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Felis catus SYT14 VGNC VGNC:107947
Mus musculus SYT14 MGD MGI:2444490
Rattus norvegicus SYT14 RGD RGD:1592654
Others SYT14 NCBI