SYT14 - synaptotagmin 14 Gene

Homo sapiens

Also known as SCAR11; sytXIV

Gene ID: 255928 | Gene type: protein coding

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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14111	SYT14 Human Pre-designed siRNA Set A		/	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

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