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SYT2 synaptotagmin 2 [ Homo sapiens (human) ]

Gene ID: 127833, updated on 3-Jun-2018
Official Symbol
SYT2provided by HGNC
Official Full Name
synaptotagmin 2provided by HGNC
Primary source
HGNC:HGNC:11510
See related
Ensembl:ENSG00000143858 MIM:600104; Vega:OTTHUMG00000041388
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CMS7; MYSPC; SytII
Summary
This gene encodes a synaptic vesicle membrane protein. The encoded protein is thought to function as a calcium sensor in vesicular trafficking and exocytosis. Mutations in this gene are associated with myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
Expression
Broad expression in brain (RPKM 1.4), adrenal (RPKM 1.3) and 17 other tissues See more
Orthologs
See SYT2 in Genome Data Viewer
Location:
1q32.1
Exon count:
11
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (202590596..202710444, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (202559724..202679551, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene protein phosphatase 1 regulatory subunit 12B Neighboring gene FK506 binding protein 8, 38kDa pseudogene Neighboring gene ribosomal protein S27 pseudogene 8 Neighboring gene uncharacterized LOC105371686 Neighboring gene cytochrome c oxidase subunit 7C pseudogene Neighboring gene lysine demethylase 5B Neighboring gene solute carrier family 25 member 39 pseudogene 1

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Myasthenic syndrome, congenital, 7, presynaptic Compare labs

NHGRI GWAS Catalog

Description
A possible mechanism behind autoimmune disorders discovered by genome-wide linkage and association analysis in celiac disease.
NHGRI GWA Catalog
  • Cargo recognition for clathrin-mediated endocytosis, organism-specific biosystem (from REACTOME)
    Cargo recognition for clathrin-mediated endocytosis, organism-specific biosystemRecruitment of plasma membrane-localized cargo into clathrin-coated endocytic vesicles is mediated by interaction with a variety of clathrin-interacting proteins collectively called CLASPs (clathrin-...
  • Clathrin-mediated endocytosis, organism-specific biosystem (from REACTOME)
    Clathrin-mediated endocytosis, organism-specific biosystemClathrin-mediated endocytosis (CME) is one of a number of process that control the uptake of material from the plasma membrane, and leads to the formation of clathrin-coated vesicles (Pearse et al, 1...
  • Disease, organism-specific biosystem (from REACTOME)
    Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
  • Infectious disease, organism-specific biosystem (from REACTOME)
    Infectious disease, organism-specific biosystem
    Infectious disease
  • Interactions of neurexins and neuroligins at synapses, organism-specific biosystem (from REACTOME)
    Interactions of neurexins and neuroligins at synapses, organism-specific biosystemNeurexins (NRXNs) and neuroligins (NLGNs) are best characterized synaptic cell-adhesion molecules. They are part of excitatory glutamatergic and inhibitory GABAergic synapses in mammalian brain, medi...
  • Membrane Trafficking, organism-specific biosystem (from REACTOME)
    Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
  • Neuronal System, organism-specific biosystem (from REACTOME)
    Neuronal System, organism-specific biosystemThe human brain contains at least 100 billion neurons, each with the ability to influence many other cells. Clearly, highly sophisticated and efficient mechanisms are needed to enable communication a...
  • Neurotoxicity of clostridium toxins, organism-specific biosystem (from REACTOME)
    Neurotoxicity of clostridium toxins, organism-specific biosystemClostridial neurotoxins, when taken up by human neurons, block synaptic transmission by cleaving proteins required for the fusion of synaptic vesicles with the plasma membrane. They are remarkably ef...
  • Protein-protein interactions at synapses, organism-specific biosystem (from REACTOME)
    Protein-protein interactions at synapses, organism-specific biosystemSynapses constitute highly specialized sites of asymmetric cell-cell adhesion and intercellular communication. Its formation involves the recruitment of presynaptic and postsynaptic molecules at newl...
  • Toxicity of botulinum toxin type B (BoNT/B), organism-specific biosystem (from REACTOME)
    Toxicity of botulinum toxin type B (BoNT/B), organism-specific biosystemBotulinum toxin type B (BoNT/B), a disulfide-bonded heavy chain (HC) - light chain (LC) heterodimer, enters the gut typically as a result of consuming contaminated food (Hatheway 1995), as a complex ...
  • Uptake and actions of bacterial toxins, organism-specific biosystem (from REACTOME)
    Uptake and actions of bacterial toxins, organism-specific biosystemThe toxic effects of many bacteria on their human hosts are mediated by proteins released from the bacteria that enter human cells and disrupt critical cellular functions (Henkel et al. 2010). All of...
  • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
    Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ42519

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calcium-dependent phospholipid binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calcium-dependent phospholipid binding ISS
Inferred from Sequence or Structural Similarity
more info
 
clathrin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
inositol 1,3,4,5 tetrakisphosphate binding ISS
Inferred from Sequence or Structural Similarity
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
syntaxin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
calcium ion-regulated exocytosis of neurotransmitter IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
membrane organization TAS
Traceable Author Statement
more info
 
positive regulation of dendrite extension IDA
Inferred from Direct Assay
more info
PubMed 
regulation of calcium ion-dependent exocytosis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
synaptic vesicle endocytosis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
synaptic vesicle exocytosis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
vesicle fusion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cell junction IEA
Inferred from Electronic Annotation
more info
 
chromaffin granule membrane IEA
Inferred from Electronic Annotation
more info
 
clathrin-coated vesicle membrane TAS
Traceable Author Statement
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
synaptic vesicle membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
synaptic vesicle membrane TAS
Traceable Author Statement
more info
 
Preferred Names
synaptotagmin-2
Names
synaptotagmin II

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_041776.1 RefSeqGene

    Range
    5001..124828
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001136504.1NP_001129976.1  synaptotagmin-2

    See identical proteins and their annotated locations for NP_001129976.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC118556, AK094430, BC100815
    Consensus CDS
    CCDS1427.1
    UniProtKB/Swiss-Prot
    Q8N9I0
    UniProtKB/TrEMBL
    A0A024R9B3
    Related
    ENSP00000356236.1, OTTHUMP00000038804, ENST00000367267.5, OTTHUMT00000099157
    Conserved Domains (2) summary
    cd08385
    Location:139261
    C2A_Synaptotagmin-1-5-6-9-10; C2A domain first repeat present in Synaptotagmins 1, 5, 6, 9, and 10
    cd08402
    Location:271406
    C2B_Synaptotagmin-1; C2 domain second repeat present in Synaptotagmin 1
  2. NM_177402.4NP_796376.2  synaptotagmin-2

    See identical proteins and their annotated locations for NP_796376.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the more prevalent variant. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC118556, BC100815, DA098279
    Consensus CDS
    CCDS1427.1
    UniProtKB/Swiss-Prot
    Q8N9I0
    UniProtKB/TrEMBL
    A0A024R9B3
    Related
    ENSP00000356237.4, OTTHUMP00000038803, ENST00000367268.4, OTTHUMT00000099156
    Conserved Domains (2) summary
    cd08385
    Location:139261
    C2A_Synaptotagmin-1-5-6-9-10; C2A domain first repeat present in Synaptotagmins 1, 5, 6, 9, and 10
    cd08402
    Location:271406
    C2B_Synaptotagmin-1; C2 domain second repeat present in Synaptotagmin 1

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    202590596..202710444 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011509192.2XP_011507494.1  synaptotagmin-2 isoform X3

    See identical proteins and their annotated locations for XP_011507494.1

    Conserved Domains (2) summary
    cd08385
    Location:142264
    C2A_Synaptotagmin-1-5-6-9-10; C2A domain first repeat present in Synaptotagmins 1, 5, 6, 9, and 10
    cd08402
    Location:274409
    C2B_Synaptotagmin-1; C2 domain second repeat present in Synaptotagmin 1
  2. XM_017000312.1XP_016855801.1  synaptotagmin-2 isoform X3

    Conserved Domains (2) summary
    cd08385
    Location:142264
    C2A_Synaptotagmin-1-5-6-9-10; C2A domain first repeat present in Synaptotagmins 1, 5, 6, 9, and 10
    cd08402
    Location:274409
    C2B_Synaptotagmin-1; C2 domain second repeat present in Synaptotagmin 1
  3. XM_017000313.1XP_016855802.1  synaptotagmin-2 isoform X4

    UniProtKB/Swiss-Prot
    Q8N9I0
    UniProtKB/TrEMBL
    A0A024R9B3
    Conserved Domains (2) summary
    cd08385
    Location:139261
    C2A_Synaptotagmin-1-5-6-9-10; C2A domain first repeat present in Synaptotagmins 1, 5, 6, 9, and 10
    cd08402
    Location:271406
    C2B_Synaptotagmin-1; C2 domain second repeat present in Synaptotagmin 1
  4. XM_017000311.2XP_016855800.1  synaptotagmin-2 isoform X3

    Conserved Domains (2) summary
    cd08385
    Location:142264
    C2A_Synaptotagmin-1-5-6-9-10; C2A domain first repeat present in Synaptotagmins 1, 5, 6, 9, and 10
    cd08402
    Location:274409
    C2B_Synaptotagmin-1; C2 domain second repeat present in Synaptotagmin 1
  5. XM_017000309.2XP_016855798.1  synaptotagmin-2 isoform X1

  6. XM_017000310.2XP_016855799.1  synaptotagmin-2 isoform X2

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