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SYT2 synaptotagmin 2 [ Homo sapiens (human) ]

Gene ID: 127833, updated on 23-Nov-2021

Summary

Official Symbol
SYT2provided by HGNC
Official Full Name
synaptotagmin 2provided by HGNC
Primary source
HGNC:HGNC:11510
See related
Ensembl:ENSG00000143858 MIM:600104
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; CMS7A; CMS7B; 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
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Genomic context

See SYT2 in Genome Data Viewer
Location:
1q32.1
Exon count:
11
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (202590596..202710454, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (202559724..202679582, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene protein phosphatase 1 regulatory subunit 12B Neighboring gene Sharpr-MPRA regulatory region 13016 Neighboring gene Sharpr-MPRA regulatory region 13308 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

Genomic regions, transcripts, and products

Expression

  • 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A possible mechanism behind autoimmune disorders discovered by genome-wide linkage and association analysis in celiac disease.
GeneReviews: Not available
Myasthenic syndrome, congenital, 7, presynaptic Compare labs
Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive
MedGen: CN300319 OMIM: 619461 GeneReviews: Not available
not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ42519

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables SNARE binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables calcium ion binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables calcium-dependent phospholipid binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables calcium-dependent phospholipid binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables clathrin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables inositol 1,3,4,5 tetrakisphosphate binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables phosphatidylserine binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables syntaxin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
involved_in calcium ion-regulated exocytosis of neurotransmitter IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in calcium-ion regulated exocytosis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in cellular response to calcium ion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in positive regulation of dendrite extension IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of calcium ion-dependent exocytosis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in regulation of dopamine secretion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in synaptic vesicle endocytosis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in vesicle-mediated transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
is_active_in axon IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in chromaffin granule membrane IEA
Inferred from Electronic Annotation
more info
 
located_in clathrin-coated endocytic vesicle membrane TAS
Traceable Author Statement
more info
 
is_active_in dense core granule IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in exocytic vesicle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
 
is_active_in synaptic vesicle membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in synaptic vesicle membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
synaptotagmin-2
Names
synaptotagmin II

NCBI Reference Sequences (RefSeq)

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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
    4970..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, ENST00000367267.5
    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_177402.5NP_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)
    AC104463, AC118556, BC100815, DA098279
    Consensus CDS
    CCDS1427.1
    UniProtKB/Swiss-Prot
    Q8N9I0
    UniProtKB/TrEMBL
    A0A024R9B3
    Related
    ENSP00000356237.4, ENST00000367268.5
    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 Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    202590596..202710454 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 (3) 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
    cd21964
    Location:4113
    Syt2_N; N-terminal domain of synaptotagmin-2 (Syt2) and similar proteins
  2. XM_017000312.1XP_016855801.1  synaptotagmin-2 isoform X3

    Conserved Domains (3) 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
    cd21964
    Location:4113
    Syt2_N; N-terminal domain of synaptotagmin-2 (Syt2) and similar proteins
  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 (3) 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
    cd21964
    Location:4113
    Syt2_N; N-terminal domain of synaptotagmin-2 (Syt2) and similar proteins
  5. XM_017000309.2XP_016855798.1  synaptotagmin-2 isoform X1

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

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