Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SYT14 Gene

protein-coding   GIFtS: 53
GCID: GC01P210112

synaptotagmin XIV
 Explore 3 diseases affiliated with
SYT14 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for SYT14    

Aliases
for SYT14 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Synaptotagmin XIV1 2 3
SytXIV3
FLJ341981
SCAR112
Synaptotagmin-141
SytXIV3

External Ids:    HGNC: 231431   Entrez Gene: 2559282   Ensembl: ENSG000001434697   OMIM: 6109495   UniProtKB: Q8NB593   
ORGUL members:         
NONCODE:n407891 n407892    

Export aliases for SYT14 gene to outside databases

Previous GC identifers: GC01P206750 GC01P207190 GC01P206514 GC01P208178 GC01P180796


Summaries
for SYT14 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for SYT14:
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)

UniProtKB/Swiss-Prot: SYT14_HUMAN, Q8NB59
Function: May be involved in the trafficking and exocytosis of secretory vesicles in non-neuronal tissues. Is
Ca(2+)-independent

Gene Wiki entry for SYT14


Genomic Views
for SYT14 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  NT_167186.1  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SYT14 gene promoter:
         TBP   HTF   HSF1 (long)   MIF-1   Cdc5   C/EBPalpha   Evi-1   HSF1short   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: SYT14 promoter sequence
   Search SABiosciences Chromatin IP Primers for SYT14

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SYT14


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q32.2   Ensembl cytogenetic band:  1q32.2   HGNC cytogenetic band: 1q32.2

SYT14 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SYT14 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P210112:  view genomic region     (about GC identifiers)

Start:
 210,111,538 bp from pter      End:
 210,337,636 bp from pter
Size:
 226,099 bases      Orientation:
 plus strand
ORGUL member locations:
Legend (see complete legend)

  • n407892
  • n407891
210111537 210224585 210337633 chr1

Proteins
for SYT14 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: SYT14_HUMAN, Q8NB59 (See protein sequence)
Recommended Name: Synaptotagmin-14  
Size: 555 amino acids; 62287 Da
Subunit: Homodimer. Can also form heterodimers (By similarity)
Subcellular location: Membrane; Single-pass type III membrane protein. Note=Localized in perinuclear and submembranous
regions
Secondary accessions: B1AJU0 B1AJU1 F5H426 Q5THX7 Q707N3 Q707N4 Q707N5 Q707N6 Q707N7
Alternative splicing: 7 isoforms:  Q8NB59-1   Q8NB59-2   Q8NB59-3   Q8NB59-4   Q8NB59-5   Q8NB59-6   Q8NB59-7   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SYT14: NX_Q8NB59

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8NB59

    • SYT14 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (5 alternative transcripts): 
    NP_001139733.1  NP_001139734.1  NP_001139736.1  NP_001242935.1  NP_694994.2  

    ENSEMBL proteins: 
     ENSP00000355986   ENSP00000418901   ENSP00000355982   ENSP00000389039   ENSP00000442891  
     ENSP00000445837   ENSP00000437423  

    Human Recombinant Protein Products: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom Protein Services for SYT14 
    GenScript Custom Purified and Recombinant Proteins Services for SYT14
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for SYT14

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral to membrane IEA--


    SYT14 for ontologies           About GeneDecksing



    SYT14 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for SYT14 
    GenScript Custom Superior Antibodies Services for SYT14
    Novus Biologicals SYT14 Antibody
    Search for Antibodies for SYT14 at Abcam  
    Uscn Antibodies for SYT14
    Search ThermoFisher Antibodies for SYT14

    Assay Products for SYT14: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for SYT14
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for SYT14

    Protein Domains /
    Families
    for SYT14 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    SYT14 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR008973 C2_Ca/lipid-bd_dom_CaLB
     IPR018029 C2_membr_targeting
     IPR000008 C2_Ca-dep

    Graphical View of Domain Structure for InterPro Entry Q8NB59

    ProtoNet protein and cluster: Q8NB59

    1 Blocks protein family: IPB000008 C2 domain

    UniProtKB/Swiss-Prot: SYT14_HUMAN, Q8NB59
    Similarity: Belongs to the synaptotagmin family
    Similarity: Contains 2 C2 domains


    Function
    for SYT14 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: SYT14_HUMAN, Q8NB59
    Function: May be involved in the trafficking and exocytosis of secretory vesicles in non-neuronal tissues. Is
    Ca(2+)-independent

    miRNA
    Products:            		 OriGene 3'-UTR Clone (see all 4): SYT14
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SYT14
    8/61 QIAGEN miScript miRNA Assays for microRNAs that regulate SYT14 (see all 61):
    hsa-miR-579 hsa-miR-142-5p hsa-miR-3685 hsa-miR-520e hsa-miR-302d hsa-miR-520f hsa-miR-29a hsa-miR-139-5p
    SwitchGear 3'UTR luciferase reporter plasmid: SYT14 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SYT14 (see all 4)
    OriGene shRNA RFP: SYT14
    OriGene siRNA: SYT14
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SYT14

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for SYT14

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SYT14 (see all 5)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SYT14 (see all 4)
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 4): SYT14 (NM_001146264)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SYT14
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SYT14 

    Cell Line
    Products:             		GenScript Custom overexpressing Cell Line Services for SYT14
    Search LifeMap BioReagents cell lines for SYT14

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SYT14

    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005543phospholipid binding ----
    GO:0042803protein homodimerization activity ----
    GO:0046982protein heterodimerization activity ----


    SYT14 for ontologies           About GeneDecksing


    2 GenomeRNAi human phenotypes for SYT14:
     Increased mitotic index  Synthetic lethal with Ras 


    Pathways & Interactions
    for SYT14 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SYT14

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    3 Interacting proteins for SYT14 (Q8NB593 ENSP000004189014) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SYT16Q17RD73, ENSP000003947004I2D: score=2 STRING: ENSP00000394700
    ATG13O751433I2D: score=1 
    MKNK1Q9BUB53I2D: score=1 
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008219cell death IEA--


    SYT14 for ontologies           About GeneDecksing



    Drugs & Compounds
    for SYT14 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SYT14
    Search CenterWatch for drugs/clinical trials and news about SYT14 

    Transcripts
    for SYT14 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for SYT14 gene (5 alternative transcripts): 
    NM_001146261.2  NM_001146262.2  NM_001146264.2  NM_001256006.1  NM_153262.3  

    Unigene Cluster for SYT14:

    Synaptotagmin XIV
    Hs.658866  [show with all ESTs]
    Unigene Representative Sequence: NM_001256006
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000367019 ENST00000472886 ENST00000271745 ENST00000367015 ENST00000469604
    ENST00000422431(uc001hhs.4 uc010psn.2) ENST00000534859(uc010psp.2)
    ENST00000399639(uc001hht.4 uc009xcv.3) ENST00000537238(uc001hhu.4 uc010pso.2)


    miRNA
    Products:             		 OriGene 3'-UTR Clone (see all 4): SYT14
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SYT14
    8/61 QIAGEN miScript miRNA Assays for microRNAs that regulate SYT14 (see all 61):
    hsa-miR-579 hsa-miR-142-5p hsa-miR-3685 hsa-miR-520e hsa-miR-302d hsa-miR-520f hsa-miR-29a hsa-miR-139-5p
    SwitchGear 3'UTR luciferase reporter plasmid: SYT14 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SYT14 (see all 4)
    OriGene shRNA RFP: SYT14
    OriGene siRNA: SYT14
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SYT14
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SYT14 (see all 5)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SYT14 (see all 4)
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 4): SYT14 (NM_001146264)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SYT14
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SYT14 
    Primer
    Products:            		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SYT14
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SYT14
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SYT14
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SYT14

    Additional cDNA sequence: 

    AB102948.1 AJ617623.1 AJ617624.1 AJ617625.1 AJ617626.1 AJ617627.1 AK091517.1 BC130323.1 
    BC144154.1 BC144155.1 BC144157.1 NR_027459.2 

    6 DOTS entries:

    DT.99998386  DT.121450649  DT.91812582  DT.101981302  DT.101981300  DT.75108589 

    11 AceView cDNA sequences:

    BX281958 BX489670 AI808504 AJ617625 AJ617624 AJ617623 AX747035 AJ617626 
    AK091517 NM_153262 AB102948 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for SYT14    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b
    SP1:                                                
    SP2:                                -               


    ECgene alternative splicing isoforms for SYT14

    Expression
    for SYT14 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SYT14 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTAAAAACAG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    SYT14 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Line H7 (WA07) (Embryonic Stem Cell)Early Embryo, Inner Cell Mass
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See SYT14 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SYT14

    SOURCE GeneReport for Unigene cluster: Hs.658866

    UniProtKB/Swiss-Prot: SYT14_HUMAN, Q8NB59
    Tissue specificity: Highly expressed in fetal and adult brain tissue

        SABiosciences Custom PCR Arrays for SYT14
    Primer
    Products:    		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SYT14
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SYT14
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SYT14
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SYT14
    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SYT14

    Orthologs
    for SYT14 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for SYT14 gene from 5/17 species (see all 17)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves SYT141 synaptotagmin XIV 87.82(n)
    93.31(a)    		   428566  XM_426122.3  XP_426122.3 
    lizard
    (Anolis carolinensis)    		 Reptilia SYT146
    --
    		 --
    		 90(a)
    22(a)
    		 1 ↔ 1
    possible ortholog
    		 1(237018176-237083896)
    GL343721.1(188179-190957)
    zebrafish
    (Danio rerio)    		 Actinopterygii syt141 synaptotagmin XIV 67.39(n)
    74.19(a)    		   564702  XM_688032.4  XP_693124.4 
    fruit fly
    (Drosophila melanogaster)    		 Insecta Syt146
    		 Synaptotagmin 14
    		 32(a)
    		 1 → many
    		 3R(141310-144791)
    worm
    (Caenorhabditis elegans)    		 Secernentea snt-66
    		 SyNapTotagmin family member (snt-6)
    		 17(a)
    		 possible ortholog
    		 II(745469-750171)


    ENSEMBL Gene Tree for SYT14 (if available)
    TreeFam Gene Tree for SYT14 (if available) 

    Paralogs
    for SYT14 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SYT14 gene
    SYT162  
    4 SIMAP similar genes for SYT14 using alignment to 3 protein entries:     SYT14_HUMAN (see all proteins):
    SYT14L    NCKAP1L    TUBA1C    SYT16

    SYT14 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for SYT14
    PGOHUM00000250714


    Genomic Variants
    for SYT14 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/3616 NCBI SNPs in SYT14 are shown (see all 3616)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 1 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1916361581,2
    		--210109546(+) TAAGGC/GAACTG 6 -- us2k10--------
    rs1410031721,2
    		--210109703(+) CTTGGC/TGATGA 6 -- us2k10--------
    rs1446442841,2
    		--210109739(+) TCCCGC/TGTGCT 6 -- us2k10--------
    rs1163323891,2
    		--210109820(+) ATCTTC/TCTTCT 6 -- us2k11Minor allele frequency- T:0.01WA 118
    rs667367371,2
    		C,--210109845(+) ACATGAGTCTCCTG
    GACAAATA    /-    AGTCT     		6 -- us2k11Minor allele frequency- -:0.50NA 2
    rs2019884571,2
    		C--210109861(-) AGACTC/TANNNN 6 -- us2k10--------
    rs94298281,2
    		C,F,--210109917(+) NNNNTC/TTGGTT 6 -- us2k11Minor allele frequency- T:0.03NA 120
    rs23572121,2
    		C,F,A,H,--210109962(+) GATGAT/ATACAT 6 -- us2k196Minor allele frequency- A:0.20NS EA NA PA EU CA WA CSA 4741
    rs1826902551,2
    		--210109982(+) TTTCAA/GTATGA 6 -- us2k10--------
    rs1881776831,2
    		--210110106(+) AGGCTC/GCCTGG 6 -- us2k10--------

    HapMap Linkage Disequilibrium report for SYT14 (210111538 - 210337636 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 6 variations for SYT14
         2 CNVs: 9388 97624
         4 Indels: 24051 60928 44502 41917
    Human Gene Mutation Database (HGMD): SYT14

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SYT14
    DNA2.0 Custom Variant and Variant Library Synthesis for SYT14

    Disorders / Diseases
    for SYT14 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    SYT14 for disorders           About GeneDecksing

    OMIM gene information: 610949    OMIM disorders: --

    UniProtKB/Swiss-Prot: SYT14_HUMAN, Q8NB59
  • Defects in SYT14 are the cause of spinocerebellar ataxia autosomal recessive type 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

    3 diseases for SYT14:    About MalaCards
    spinocerebellar ataxia    ataxia    neuronitis

    Human Genome Epidemiology (HuGE) Navigator: SYT14 (1 document)

    Export disorders for SYT14 gene to outside databases

    Publications
    for SYT14 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SYT14 gene, integrated from 9 sources (see all 11):
    (articles sorted by number of sources associating them with SYT14)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation. (PubMed id 21835308)1, 2 Doi H....Matsumoto N. (2011)
    2. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. Synaptotagmin gene content of the sequenced genomes. (PubMed id 15238157)1, 2 Craxton M.A. (2004)
    5. Molecular cloning, expression, and characterization of a novel class of synaptotagmin (Syt XIV) conserved from Drosophila to humans. (PubMed id 12801916)1, 2 Fukuda M. (2003)
    6. Recent advances in the genetics of cerebellar ataxias. (PubMed id 22527681)1 Sailer A. and Houlden H. (2012)
    7. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    8. Disruption of a synaptotagmin (SYT14) associated with neurodevelopmental abnormalities. (PubMed id 17304550)1 Quintero-Rivera F....Ligon A.H. (2007)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    10. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)

    External Searches for SYT14 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing SYT14 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 255928 HGNC: 23143 AceView: SYT14 Ensembl:ENSG00000143469 euGenes: HUgn255928
    ECgene: SYT14 H-InvDB: SYT14

    Other Databases showing SYT14 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing SYT14 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SYT14 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for SYT14 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for SYT14 gene:
    Search GeneIP for patents involving SYT14

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    Products
    for SYT14 gene

    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
    In Situ Hybridization Assays from
    Advanced Cell Diagnostics
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Phosphatase Activity Assays/Reagents   Browse Recombinant/Natural Proteins  
     Browse OriGene Antibodies   OriGene shRNA RFP for SYT14  
     OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SYT14   OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SYT14  
     Browse OriGene Protein Over-expression Lysates   Browse OriGene Fluorogenic Cell Assay Kits  
     OriGene siRNA for SYT14   OriGene 3'-UTR Clone for SYT14  
     OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SYT14   OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SYT14  
     Browse OriGene GFP tagged cDNA clones in CMV expression vector   Browse OriGene MicroRNA Expression Plasmids  
     Browse OriGene basic RS shRNAs   Browse OriGene validated miRNA SYBR primer pairs  
     Browse OriGene full length recombinant human proteins expressed in human HEK293 cells   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for SYT14   OriGene Custom Protein Services for SYT14  
     OriGene Custom Immunoassay Development  

         		 
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat SYT14
     QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SYT14
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SYT14
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SYT14
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SYT14
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SYT14
     GenScript Custom Purified and Recombinant Proteins Services for SYT14 GenScript cDNA clones with any tag delivered in your preferred vector for SYT14
     GenScript Custom Assay Services for SYT14 GenScript Custom Superior Antibodies Services for SYT14
     GenScript Custom overexpressing Cell Line Services for SYT14 CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in SYT14 promoter
     Search Chromatin IP Primers for SYT14
     RT2 qPCR Primer Assay in human, mouse, rat SYT14
     GNC Network for SYT14
     SABiosciences Custom PCR Arrays for SYT14
     Search Tocris compounds for SYT14
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological cDNA Clones
     Antibodies/Proteins Production Services
     Rabbit Monoclonal Antibody Platform
     Bulk Purchasing
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     SYT14 antibodies
     Search for Antibodies for SYT14 at Abcam
     See all of Abcam's Antibodies, Kits and Proteins for SYT14
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     SYT14 Proteins, Antibodies, CLIAs, and ELISAs
     Search LifeMap BioReagents cell lines for SYT14
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SYT14
     SwitchGear 3'UTR luciferase reporter plasmids for SYT14
     SwitchGear Promoter luciferase reporter plasmids for SYT14
     Search ThermoFisher Antibodies for SYT14
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SYT14
           
    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

    View Random Gene

    Category
    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 

    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Copyright © 1996-2013 , Weizmann Institute of Science. All Rights Reserved.
    Hot genes      Disease genes      SYT14 gene at Home site.
    hostname: 356977-web1.xennexinc.com index build: 100 solr: 1.4