Aliases for SYT14 Gene
Aliases for SYT14 Gene
External Ids for SYT14 Gene
- HGNC: 23143
- Entrez Gene: 255928
- Ensembl: ENSG00000143469
- OMIM: 610949
- UniProtKB: Q8NB59
Previous GeneCards Identifiers for SYT14 Gene
- GC01P206750
- GC01P207190
- GC01P206514
- GC01P208178
- GC01P210112
- GC01P180796
Summaries for SYT14 Gene
-
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]
GeneCards Summary for SYT14 Gene
SYT14 (Synaptotagmin 14) is a Protein Coding gene. Diseases associated with SYT14 include Spinocerebellar Ataxia, Autosomal Recessive 11 and Spinocerebellar Ataxia 11. Gene Ontology (GO) annotations related to this gene include calcium ion binding and protein heterodimerization activity. An important paralog of this gene is SYT16.
UniProtKB/Swiss-Prot for SYT14 Gene
-
May be involved in the trafficking and exocytosis of secretory vesicles in non-neuronal tissues. Is Ca(2+)-independent.
Additional gene information for SYT14 Gene
- Monarch Initiative
- Search for SYT14 at DataMed
- Search for SYT14 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SYT14 Gene
Genomics for SYT14 Gene
GeneHancer (GH) Regulatory Elements for SYT14 Gene
Promoters and enhancers for SYT14 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around SYT14 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the SYT14 gene promoter:
Regulatory Element Products
Genomic Locations for SYT14 Gene
Genomic Locations for SYT14 Gene
- chr1:209,938,174-210,171,389
- (GRCh38/hg38)
- Size:
- 233,216 bases
- Orientation:
- Plus strand
- chr1:210,111,538-210,337,636
- (GRCh37/hg19)
Genomic View for SYT14 Gene
Genes around SYT14 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 1q32.2 by Ensembl
- 1q32.2 by Entrez Gene
- 1q32.2 by HGNC
SYT14 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for SYT14 Gene
Proteins for SYT14 Gene
-
Protein details for SYT14 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q8NB59-SYT14_HUMAN
- Recommended name:
- Synaptotagmin-14
- Protein Accession:
- Q8NB59
- B1AJU0
- B1AJU1
- F5H426
- Q5THX7
- Q707N3
- Q707N4
- Q707N5
- Q707N6
- Q707N7
Protein attributes for SYT14 Gene
- Size:
- 555 amino acids
- Molecular mass:
- 62287 Da
- Quaternary structure:
-
- Homodimer. Can also form heterodimers (By similarity).
Post-translational modifications for SYT14 Gene
No Post-translational modifications
Other Protein References for SYT14 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
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Protein Products
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-
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Assay Products
No data available for DME Specific Peptides for SYT14 Gene
Domains & Families for SYT14 Gene
Gene Families for SYT14 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
- Predicted membrane proteins
Protein Domains for SYT14 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for SYT14 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q8NB59- Family:
-
- Belongs to the synaptotagmin family.
Function for SYT14 Gene
Molecular function for SYT14 Gene
- UniProtKB/Swiss-Prot Function:
- May be involved in the trafficking and exocytosis of secretory vesicles in non-neuronal tissues. Is Ca(2+)-independent.
Phenotypes From GWAS Catalog for SYT14 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005509 | calcium ion binding | IBA | -- |
| GO:0005544 | NOT calcium-dependent phospholipid binding | IBA | -- |
| GO:0019905 | syntaxin binding | IBA | -- |
| GO:0030276 | clathrin binding | IBA | -- |
Phenotypes for SYT14 Gene
- GenomeRNAi human phenotypes for SYT14:
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miRNA for SYT14 Gene
- miRTarBase miRNAs that target SYT14
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-
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
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-
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No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for SYT14 Gene
Localization for SYT14 Gene
Subcellular locations from UniProtKB/Swiss-Prot for SYT14 Gene
- Membrane; Single-pass type III membrane protein. Note=Localized in perinuclear and submembranous regions.
| Compartment | Confidence |
|---|---|
| plasma membrane | 4 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
| cytosol | 1 |
- Vesicles (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005886 | plasma membrane | IBA | -- |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | IEA | -- |
Pathways & Interactions for SYT14 Gene
No Data Available
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006906 | vesicle fusion | IBA | -- |
| GO:0017158 | NOT regulation of calcium ion-dependent exocytosis | IBA | -- |
| GO:0048791 | NOT calcium ion-regulated exocytosis of neurotransmitter | IBA | -- |
No data available for Pathways by source and SIGNOR curated interactions for SYT14 Gene
Transcripts for SYT14 Gene
mRNA/cDNA for SYT14 Gene
- (11) REFSEQ mRNAs :
- (12) Additional mRNA sequences :
- (2) Selected AceView cDNA sequences:
- (9) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for SYT14 Gene
- Synaptotagmin XIV:
- Representative Sequences:
CRISPR Products
-
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-
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Inhibitory RNA Products
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Clone Products
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-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for 83 available SYT14 gene related products
- Overview of 83 available SYT14 gene related products
-
Recommended
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-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | |||||||||||||||
| SP2: | - |
Expression for SYT14 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Inner Cell Mass (Early Embryonic Tissues)
mRNA differential expression in normal tissues according to GTEx for SYT14 Gene
This gene is overexpressed in Brain - Cerebellum (x6.0), Pituitary (x5.3), and Testis (x4.1).
NURSA nuclear receptor signaling pathways regulating expression of SYT14 Gene:
SYT14SOURCE GeneReport for Unigene cluster for SYT14 Gene:
Hs.658866mRNA Expression by UniProt/SwissProt for SYT14 Gene:
Q8NB59-SYT14_HUMAN
Tissue specificity:
Highly expressed in fetal and adult brain tissue.
Evidence on tissue expression from TISSUES for SYT14 Gene
- Nervous system(4.3)
Phenotype-based relationships between genes and organs from Gene ORGANizer for SYT14 Gene
Germ Layers:
- ectoderm
- mesoderm
Systems:
- nervous
- skeletal muscle
Organs:
Head and neck:
- brain
- cerebellum
- cranial nerve
- eye
- head
Limb:
- lower limb
- upper limb
General:
- peripheral nervous system
- spinal cord
Primer Products
-
OriGene qPCR primer pairs for SYT14
- genomics-online: primer clones - Search results for 83 available SYT14 gene related products
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No data available for Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for SYT14 Gene
Orthologs for SYT14 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | SYT14 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | SYT14 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | LOC787880 33 |
|
||
| SYT14 34 |
|
OneToOne | |||
| oppossum (Monodelphis domestica) |
Mammalia | SYT14 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | SYT14 34 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Syt14 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Syt14 33 16 34 |
|
||
| chicken (Gallus gallus) |
Aves | SYT14 33 34 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | SYT14 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | syt14 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | syt14a 33 34 |
|
||
| syt14b 34 |
|
OneToMany | |||
| fruit fly (Drosophila melanogaster) |
Insecta | Syt14 34 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | D2023.3 34 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
OneToMany |
- Species where no ortholog for SYT14 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
Paralogs for SYT14 Gene
(3) SIMAP similar genes for SYT14 Gene using alignment to 3 proteins:
Pseudogenes.org Pseudogenes for SYT14 Gene
Variants for SYT14 Gene
| SNP ID | Clin | Chr 01 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs387907033 | pathogenic, Spinocerebellar ataxia, autosomal recessive 11, Spinocerebellar ataxia, autosomal recessive, 11 (SCAR11) [MIM:614229] | 210,155,872(+) | G/A/C | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
| rs368545452 | likely-pathogenic, not provided | 209,938,252(+) | T/C/G | 5_prime_UTR_variant, genic_upstream_transcript_variant, initiator_codon_variant, missense_variant, non_coding_transcript_variant, upstream_transcript_variant | |
| rs17188183 | likely-benign, not specified | 210,160,736(+) | T/C | coding_sequence_variant, non_coding_transcript_variant, synonymous_variant | |
| rs149170280 | uncertain-significance, not specified | 210,013,773(+) | A/G | 5_prime_UTR_variant, coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
| rs149544914 | uncertain-significance, not specified | 210,100,178(+) | G/A | coding_sequence_variant, missense_variant, non_coding_transcript_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv797n54 | CNV | loss | 21841781 |
| esv1564426 | CNV | deletion | 17803354 |
| esv2399148 | CNV | deletion | 18987734 |
| esv2561272 | CNV | deletion | 19546169 |
| esv2657303 | CNV | deletion | 23128226 |
| esv2663015 | CNV | deletion | 23128226 |
| esv2663327 | CNV | deletion | 23128226 |
| esv2722251 | CNV | deletion | 23290073 |
| esv2722262 | CNV | deletion | 23290073 |
| esv3545855 | CNV | deletion | 23714750 |
| esv3545866 | CNV | deletion | 23714750 |
| esv3588711 | CNV | loss | 21293372 |
| esv3588712 | CNV | gain | 21293372 |
| esv3588714 | CNV | loss | 21293372 |
| esv3588715 | CNV | loss | 21293372 |
| esv4684 | CNV | loss | 18987735 |
| esv8433 | CNV | loss | 19470904 |
| nsv1068466 | CNV | deletion | 25765185 |
| nsv1133934 | CNV | deletion | 24896259 |
| nsv160698 | CNV | insertion | 16902084 |
| nsv4365 | CNV | insertion | 18451855 |
| nsv468072 | CNV | loss | 19166990 |
| nsv818800 | CNV | gain | 17921354 |
| nsv958179 | CNV | deletion | 24416366 |
Residual Variation Intolerance Score:
51.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
5.37;
70.99% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for SYT14 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SYT14 Gene
Disorders for SYT14 Gene
(2) MalaCards diseases for SYT14 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| spinocerebellar ataxia, autosomal recessive 11 |
|
|
| spinocerebellar ataxia 11 |
|
|
Search SYT14 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
SYT14_HUMAN- Spinocerebellar ataxia, autosomal recessive, 11 (SCAR11) [MIM:614229]: Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR11 is associated with psychomotor retardation. {ECO:0000269 PubMed:21835308}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for SYT14
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for SYT14 Gene
Publications for SYT14 Gene
- Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation. (PMID: 21835308) Doi H … Matsumoto N (American journal of human genetics 2011) 3 4 58
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
- The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 58
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
- Synaptotagmin gene content of the sequenced genomes. (PMID: 15238157) Craxton M (BMC genomics 2004) 3 4 58
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for 16 available SYT14 Antibodies ranked by validation data
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Sources for SYT14 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
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