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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

SYT14 Gene

protein-coding GIFtS: 52
GCID: GC01P210112

Synaptotagmin XIV

4 related diseases
at

MalaCards

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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
SCAR11²
synaptotagmin-14²
sytXIV²
SytXIV³

External Ids:	HGNC: 23143¹	Entrez Gene: 255928²	Ensembl: ENSG00000143469⁷	OMIM: 610949⁵	UniProtKB: Q8NB59³

ORGUL members:
	NONCODE¹⁴:n407892 n407891

Export aliases for SYT14 gene to outside databases

Previous GC identifers: GC01P206750 GC01P207190 GC01P206514 GC01P208178 GC01P180796

(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 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 XIV) is a protein-coding gene, and is affiliated with the lncRNA class. Diseases associated with SYT14 include spinocerebellar ataxia, and ataxia. An important paralog of this gene is SYT16.

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 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000001.10 NT_167186.1 NC_018912.2

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)

ORGUL Member Locations for SYT14

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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

Explore proteomics data for SYT14 at MOPED

Post-translational modifications:

View modification sites using PhosphoSitePlus

View neXtProt modification sites for NX_Q8NB59

SYT14 Protein expression data from MOPED¹, PaxDb² and MAXQB³ : About this image

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 for SYT14:

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	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells Browse OriGene Protein Over-expression Lysates OriGene Custom MassSpec OriGene Custom Protein Services for SYT14
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	Novus Biologicals SYT14 Protein
	Browse Sino Biological Recombinant Proteins Browse Sino Biological Cell Lysates
	Browse ProSpec Recombinant Proteins
	Cloud-Clone Corp. Proteins for SYT14

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0016021	integral to membrane	IEA	--

SYT14 for ontologies About GeneDecksing

SYT14 Antibody Products:

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Assay Products for SYT14:

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	Cloud-Clone Corp. ELISAs for SYT14 Cloud-Clone Corp. CLIAs for SYT14

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

HGNC Gene Families:

SYT: Synaptotagmins

3 InterPro protein domains:

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 domain: IPB000008 C2 domain

UniProtKB/Swiss-Prot: SYT14_HUMAN, Q8NB59

Similarity: Belongs to the synaptotagmin family

Similarity: Contains 2 C2 domains

SYT14 for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: SYT14_HUMAN, Q8NB59

Function: May be involved in the trafficking and exocytosis of secretory vesicles in non-neuronal tissues. Is

Ca(2+)-independent

Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005515	protein binding	--	--
GO:0005543	phospholipid binding	IEA	--
GO:0042803	protein homodimerization activity	IEA	--
GO:0046982	protein heterodimerization activity	IEA	--

SYT14 for ontologies About GeneDecksing

Phenotypes:
2 GenomeRNAi human phenotypes for SYT14:

Increased mitotic index

Synthetic lethal with Ras

Animal Models:

inGenious Targeting Laboratory - Custom generated mouse model solutions for SYT14

inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SYT14

genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SYT14

genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SYT14

miRNA Products:		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 RNAi products in human, mouse, rat for SYT14
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Gene Editing Products:			DNA2.0 Custom Protein Engineering Service for SYT14
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Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene clones in human, mouse for SYT14 (see all 19) OriGene ORF clones in mouse, rat for SYT14 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)
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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

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
About This Section

Interactions:

SABiosciences Gene Network Central^TM 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

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
SYT16	Q17RD7³, ENSP00000394700⁴	I2D: score=2 STRING: ENSP00000394700
ATG13	O75143³	I2D: score=1
MKNK1	Q9BUB5³	I2D: score=1

About this table

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0008219	cell death	IEA	--

SYT14 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, 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, Sirion Biotech, 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:		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 RNAi products in human, mouse, rat for SYT14
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SYT14

Clone Products:		OriGene clones in human, mouse for SYT14 (see all 19) OriGene ORF clones in mouse, rat for SYT14 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)
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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SYT14
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SYT14

Additional mRNA 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 AJ617623 AJ617624 AJ617625 NM_153262 AX747035

AJ617626 AB102948 AK091517

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

(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) SYT14 embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: TTAAAAACAG

About this image

SYT14 expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database

5/1 selected tissues (see all 1) fully expand


Inner Cell Mass (Early Embryonic Tissues) fully expand to see all 2 entries
Line H7 (WA07)

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

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		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 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 6/12 species (see all 12) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Syt14^{1 , 5}	synaptotagmin XIV^{1, 5}	88.6(n)¹ 93.64(a)¹		1 (97.55 cM)⁵ 329324¹ NM_181546.2¹ NP_853524.1¹ 192897307⁵
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	synaptotagmin XIV	87(a)	1 ↔ 1	1(236968894-237084075)
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	28(a)	1 → many	3R(141310-144791)
worm (Caenorhabditis elegans)	Secernentea	D2023.3⁶	Protein D2023.3, isoform a	24(a)	1 → many	V(11802105-11812012)

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

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for SYT14 gene

SYT16²

3 SIMAP similar genes for SYT14 using alignment to 3 protein entries: SYT14_HUMAN (see all proteins):

SYT14L TUBA1C SYT16

SYT14 for paralogs About GeneDecksing

1 Pseudogenes.org Pseudogene for SYT14
PGOHUM00000250714

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, 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

SNP ID	Valid	Clinical significance	Chr 1 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
VAR_066664⁴		Spinocerebellar ataxia, autosomal recessive, 11 (SCAR11)⁴	--	see VAR_066664	2	G D	mis⁴		0	--	--	--	--
VAR_066663⁴		--	--	see VAR_066663	2	G E	mis⁴		0	--	--	--	--
rs66736737^1,2	C	--	210109845(+)	`ACATGAGTCTCCTG GACAAATA/-AGTCT`	6	--	us2k¹		1		NA	2
rs74871238^1,2	F	--	210110907(+)	`GTGAGT/AGAGAG`	6	--	us2k¹		3		NA CSA	6
rs201960926^1,2	C	--	210115706(+)	`ACCCC-/CCCCCCCC`	6	--	int¹		0	--	--	--	--
rs58806792^1,2	C	--	210116854(+)	`AAAAA-/AAGAGAA`	6	--	int¹		1		NA	2
rs112168803^1,2	F	--	210120089(+)	`CAACAG/TATTTT`	6	--	int¹		1		CSA	2
rs58649262^1,2	C,F	--	210129627(+)	`CCAAACAAA/- TAATG`	6	--	int¹		2		NA CSA	4
rs35696548^1,2	C	--	210132766(+)	`TACAG-/GCGTGA`	6	--	int¹		0	--	--	--	--
rs71741174^1,2	C	--	210142072(+)	`ATTTC-/TTTTTT`	6	--	int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for SYT14 (210111538 - 210337636 bp)

Structural Variations
Database of Genomic Variants (DGV) 10/18 variations for SYT14 (see all 18): About this table

Variant ID	Type	Subtype	PubMed ID
esv2722251	CNV	Deletion	23290073
esv4684	CNV	Deletion	18987735
esv2663015	CNV	Deletion	23128226
esv2657303	CNV	Deletion	23128226
esv2399148	CNV	Deletion	18987734
esv1564426	CNV	Deletion	17803354
esv2663327	CNV	Deletion	23128226
esv2722262	CNV	Deletion	23290073
esv2561272	CNV	Deletion	19546169
nsv4365	CNV	Insertion	18451855

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

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

OMIM gene information: 610949 OMIM disorders: --

UniProtKB/Swiss-Prot: SYT14_HUMAN, Q8NB59

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.

Note=The disease is caused by mutations affecting the gene represented in this entry

4 diseases for SYT14: About MalaCards

spinocerebellar ataxia ataxia cerebellar ataxia neuronitis

SYT14 for disorders About GeneDecksing

Genetic Association Database (GAD): SYT14
Human Genome Epidemiology (HuGE) Navigator: SYT14 (1 document)

Export disorders for SYT14 gene to outside databases

(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)
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PubMed articles for SYT14 gene, integrated from 9 sources (see all 14):
(articles sorted by number of sources associating them with SYT14)

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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)
Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)^{1, 4} Rose J.E....Uhl G.R. (2010)
The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)^{1, 2} Gregory S.G.... Bentley D.R. (2006)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
Synaptotagmin gene content of the sequenced genomes. (PubMed id 15238157)^{1, 2} Craxton M.A. (2004)
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)
Recent advances in the genetics of cerebellar ataxias. (PubMed id 22527681)¹ Sailer A. and Houlden H. (2012)
Disruption of a synaptotagmin (SYT14) associated with neurodevelopmental abnormalities. (PubMed id 17304550)¹ Quintero-Rivera F....Ligon A.H. (2007)
Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness. (PubMed id 17903302)⁴ Levy D....Mitchell G.F. (2007)
A genome-wide association for kidney function and endocrine-related traits in the NHLBI's Framingham Heart Study. (PubMed id 17903292)⁴ Hwang S.J....Fox C.S. (2007)

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

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for SYT14	Pharmacogenomics, SNPs, Pathways

Intellectual Property for SYT14 gene
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Patent Information for SYT14 gene:
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