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SYT12 synaptotagmin 12 [ Homo sapiens (human) ]

Gene ID: 91683, updated on 22-Aug-2020

Summary

Official Symbol
SYT12provided by HGNC
Official Full Name
synaptotagmin 12provided by HGNC
Primary source
HGNC:HGNC:18381
See related
Ensembl:ENSG00000173227 MIM:606436
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
SYT11; sytXII
Summary
This gene is a member of the synaptotagmin gene family and encodes a protein similar to other family members that mediate calcium-dependent regulation of membrane trafficking in synaptic transmission. Studies of the orthologous gene in rat have shown that the encoded protein selectively modulates spontaneous synaptic-vesicle exocytosis and may also be involved in regulating calcium independent secretion in nonneuronal cells. Alternative splicing results in multiple transcript variants. The gene has previously been referred to as synaptotagmin XI but has been renamed synaptotagmin XII to be standard with mouse and rat official nomenclature.[provided by RefSeq, Apr 2010]
Annotation information
Note: In 2002, the HUGO Gene Nomenclature Committee (HGNC) changed the official nomenclature of this locus to be standard with mouse and rat official nomenclature. Therefore, the gene previously known as "synaptotagmin XI" (SYT11, GeneID 23208) became "synaptotagmin XII" (SYT12) and "synaptotagmin XII" (SYT12, GeneID 91683) became "synaptotagmin XI" (SYT11). [13 Feb 2013]
Expression
Biased expression in brain (RPKM 5.6), liver (RPKM 2.3) and 5 other tissues See more
Orthologs

Genomic context

See SYT12 in Genome Data Viewer
Location:
11q13.2
Exon count:
16
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (67006773..67050863)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (66790190..66818334)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene pyruvate carboxylase Neighboring gene uncharacterized LOC105369355 Neighboring gene chromosome 11 open reading frame 86 Neighboring gene microRNA 6860 Neighboring gene ras homolog family member D Neighboring gene uncharacterized LOC107984341

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

Phenotypes

Associated conditions

Description Tests
Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
SNARE binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 
clathrin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphatidylserine binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
syntaxin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
calcium ion regulated exocytosis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calcium ion-regulated exocytosis of neurotransmitter IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular response to calcium ion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
long-term synaptic potentiation IEA
Inferred from Electronic Annotation
more info
 
regulation of calcium ion-dependent exocytosis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of dopamine secretion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of neurotransmitter secretion IEA
Inferred from Electronic Annotation
more info
 
spontaneous exocytosis of neurotransmitter IEA
Inferred from Electronic Annotation
more info
 
vesicle-mediated transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
exocytic vesicle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
hippocampal mossy fiber to CA3 synapse IEA
Inferred from Electronic Annotation
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 
synaptic vesicle membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
synaptotagmin-12
Names
synaptotagmin-XII

NCBI Reference Sequences (RefSeq)

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.

mRNA and Protein(s)

  1. NM_001177880.2NP_001171351.1  synaptotagmin-12 isoform a

    See identical proteins and their annotated locations for NP_001171351.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (a). Variants 1 and 2 both encode the same isoform (a).
    Source sequence(s)
    AK315810, AL833834, AP003176
    Consensus CDS
    CCDS8154.1
    UniProtKB/Swiss-Prot
    Q8IV01
    UniProtKB/TrEMBL
    B0AZL9, Q8NDM9
    Related
    ENSP00000431400.1, ENST00000525457.5
    Conserved Domains (2) summary
    cd08406
    Location:284419
    C2B_Synaptotagmin-12; C2 domain second repeat present in Synaptotagmin 12
    cl14603
    Location:152263
    C2; C2 domain
  2. NM_001318773.2NP_001305702.1  synaptotagmin-12 isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains an alternate exon compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 3 and 4 both encode the same isoform (b).
    Source sequence(s)
    AL833834, DA187677, HY172636
    UniProtKB/TrEMBL
    Q8NDM9
    Conserved Domains (2) summary
    cd08406
    Location:169304
    C2B_Synaptotagmin-12; C2 domain second repeat present in Synaptotagmin 12
    cl14603
    Location:37148
    C2; C2 domain
  3. NM_001318775.2NP_001305704.1  synaptotagmin-12 isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' end and lacks an alternate exon compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 3 and 4 both encode the same isoform (b).
    Source sequence(s)
    AL833834, AP003176, DA122623, DA239473
    UniProtKB/TrEMBL
    Q8NDM9
    Conserved Domains (2) summary
    cd08406
    Location:169304
    C2B_Synaptotagmin-12; C2 domain second repeat present in Synaptotagmin 12
    cl14603
    Location:37148
    C2; C2 domain
  4. NM_177963.4NP_808878.1  synaptotagmin-12 isoform a

    See identical proteins and their annotated locations for NP_808878.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same isoform (a).
    Source sequence(s)
    AL833834, AP003176, BC037406, DA239473
    Consensus CDS
    CCDS8154.1
    UniProtKB/Swiss-Prot
    Q8IV01
    UniProtKB/TrEMBL
    Q8NDM9
    Related
    ENSP00000435316.1, ENST00000527043.6
    Conserved Domains (2) summary
    cd08406
    Location:284419
    C2B_Synaptotagmin-12; C2 domain second repeat present in Synaptotagmin 12
    cl14603
    Location:152263
    C2; C2 domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    67006773..67050863
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011545346.3XP_011543648.1  synaptotagmin-12 isoform X2

    See identical proteins and their annotated locations for XP_011543648.1

    Conserved Domains (2) summary
    cd08406
    Location:319454
    C2B_Synaptotagmin-12; C2 domain second repeat present in Synaptotagmin 12
    cl14603
    Location:187298
    C2; C2 domain
  2. XM_006718737.4XP_006718800.1  synaptotagmin-12 isoform X3

    Conserved Domains (2) summary
    cd08406
    Location:302437
    C2B_Synaptotagmin-12; C2 domain second repeat present in Synaptotagmin 12
    cl14603
    Location:170281
    C2; C2 domain
  3. XM_024448766.1XP_024304534.1  synaptotagmin-12 isoform X1

    Conserved Domains (2) summary
    cd08406
    Location:350485
    C2B_Synaptotagmin-12; C2 domain second repeat present in Synaptotagmin 12
    cl14603
    Location:218329
    C2; C2 domain
  4. XM_017018548.1XP_016874037.1  synaptotagmin-12 isoform X5

    Conserved Domains (2) summary
    cd08406
    Location:169304
    C2B_Synaptotagmin-12; C2 domain second repeat present in Synaptotagmin 12
    cl14603
    Location:37148
    C2; C2 domain
  5. XM_011545347.1XP_011543649.1  synaptotagmin-12 isoform X4

    See identical proteins and their annotated locations for XP_011543649.1

    UniProtKB/Swiss-Prot
    Q8IV01
    Related
    ENSP00000377520.2, ENST00000393946.6
    Conserved Domains (2) summary
    cd08406
    Location:284419
    C2B_Synaptotagmin-12; C2 domain second repeat present in Synaptotagmin 12
    cl14603
    Location:152263
    C2; C2 domain
  6. XM_017018547.1XP_016874036.1  synaptotagmin-12 isoform X5

    Conserved Domains (2) summary
    cd08406
    Location:169304
    C2B_Synaptotagmin-12; C2 domain second repeat present in Synaptotagmin 12
    cl14603
    Location:37148
    C2; C2 domain
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