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SYN2 synapsin II [ Homo sapiens (human) ]

Gene ID: 6854, updated on 3-Sep-2017
Official Symbol
SYN2provided by HGNC
Official Full Name
synapsin IIprovided by HGNC
Primary source
HGNC:HGNC:11495
See related
Ensembl:ENSG00000157152 MIM:600755; Vega:OTTHUMG00000155335
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
SYNII
Summary
This gene is a member of the synapsin gene family. Synapsins encode neuronal phosphoproteins which associate with the cytoplasmic surface of synaptic vesicles. Family members are characterized by common protein domains, and they are implicated in synaptogenesis and the modulation of neurotransmitter release, suggesting a potential role in several neuropsychiatric diseases. This member of the synapsin family encodes a neuron-specific phosphoprotein that selectively binds to small synaptic vesicles in the presynaptic nerve terminal. Polymorphisms in this gene are associated with abnormal presynaptic function and related neuronal disorders, including autism, epilepsy, bipolar disorder and schizophrenia. Alternative splicing of this gene results in multiple transcript variants. The tissue inhibitor of metalloproteinase 4 gene is located within an intron of this gene and is transcribed in the opposite direction. [provided by RefSeq, Feb 2014]
Orthologs
Location:
3p25.2
Exon count:
17
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 3 NC_000003.12 (12004360..12192032)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (12182150..12233532)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene microtubule affinity regulating kinase 2 pseudogene 14 Neighboring gene RNA, 7SL, cytoplasmic 147, pseudogene Neighboring gene actin gamma 1 pseudogene 12 Neighboring gene mitochondrially encoded cytochrome c oxidase I pseudogene 5 Neighboring gene TIMP metallopeptidase inhibitor 4 Neighboring gene glutathione S-transferase mu 5 pseudogene 1 Neighboring gene peroxisome proliferator activated receptor gamma

  • 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
Schizophrenia
MedGen: C0036341 OMIM: 181500 GeneReviews: Not available
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NHGRI GWAS Catalog

Description
A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.
NHGRI GWA Catalog
Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes.
NHGRI GWA Catalog
New gene functions in megakaryopoiesis and platelet formation.
NHGRI GWA Catalog
  • Dopamine Neurotransmitter Release Cycle, organism-specific biosystem (from REACTOME)
    Dopamine Neurotransmitter Release Cycle, organism-specific biosystemDopamine neurotransmitter cycle occurs in dopaminergic neurons. Dopamine is synthesized and loaded into the clathrin sculpted monoamine transport vesicles. The vesicles are docked, primed and fused w...
  • 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...
  • Neurotransmitter Release Cycle, organism-specific biosystem (from REACTOME)
    Neurotransmitter Release Cycle, organism-specific biosystemNeurotransmitter is stored in the synaptic vesicle in the pre-synaptic terminal prior to its release in the synaptic cleft upon depolarization of the pre-synaptic membrane. The release of the neurotr...
  • Serotonin Neurotransmitter Release Cycle, organism-specific biosystem (from REACTOME)
    Serotonin Neurotransmitter Release Cycle, organism-specific biosystemSerotonin is synthesized in the serotonergic neurons in the central nervous system and the enterochrommaffin cells of the gastroinetstinal system. Serotonin is loaded into the clathrin sculpted monoa...
  • Synaptic Vesicle Pathway, organism-specific biosystem (from WikiPathways)
    Synaptic Vesicle Pathway, organism-specific biosystemPathway depicting synaptic transmission of neurotransmitters from the presynaptic nerve terminal to the synaptic cleft upon depolarization. Synaptotagmin mediated transport along the nerve cell cytos...
  • Transmission across Chemical Synapses, organism-specific biosystem (from REACTOME)
    Transmission across Chemical Synapses, organism-specific biosystemChemical synapses are specialized junctions that are used for communication between neurons, neurons and muscle or gland cells. The synapse involves a pre-synaptic neuron and a post-synaptic neuron,...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding TAS
Traceable Author Statement
more info
PubMed 
catalytic activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
chemical synaptic transmission TAS
Traceable Author Statement
more info
PubMed 
neurotransmitter secretion ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
cell junction IEA
Inferred from Electronic Annotation
more info
 
synapse ISS
Inferred from Sequence or Structural Similarity
more info
 
synaptic vesicle membrane ISS
Inferred from Sequence or Structural Similarity
more info
 

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_011728.2 RefSeqGene

    Range
    4973..192645
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_003178.5NP_003169.2  synapsin-2 isoform IIb

    See identical proteins and their annotated locations for NP_003169.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (IIb) is alternatively spliced at its 3' end, compared to variant IIa. It encodes isoform IIb, which contains a shorter C-terminus with a distinct domain I, compared to isoform IIa.
    Source sequence(s)
    AB209088, AC022234, AF077737, DR002316, HY336790
    Consensus CDS
    CCDS74901.1
    UniProtKB/Swiss-Prot
    Q92777
    UniProtKB/TrEMBL
    A0A087X2E3, Q59GM1
    Related
    ENSP00000484916.1, OTTHUMP00000275822, ENST00000620175.4, OTTHUMT00000339528
    Conserved Domains (3) summary
    pfam02078
    Location:115212
    Synapsin; Synapsin, N-terminal domain
    pfam02750
    Location:214416
    Synapsin_C; Synapsin, ATP binding domain
    pfam10581
    Location:230
    Synapsin_N; Synapsin N-terminal
  2. NM_133625.4NP_598328.1  synapsin-2 isoform IIa

    See identical proteins and their annotated locations for NP_598328.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (IIa) represents the shorter transcript but encodes the longer isoform (IIa), which has an alternate C-terminus with distinct H and E domains, compared to isoform IIb.
    Source sequence(s)
    AC022234, AC091492, AK091286, BC051307, BE504293, DR002316
    Consensus CDS
    CCDS74900.1
    UniProtKB/TrEMBL
    A0A087WW96, B3KRB3, Q86VA8
    Related
    ENSP00000480050.1, OTTHUMP00000275821, ENST00000621198.4, OTTHUMT00000339526
    Conserved Domains (3) summary
    pfam02078
    Location:115212
    Synapsin; Synapsin, N-terminal domain
    pfam02750
    Location:214416
    Synapsin_C; Synapsin, ATP binding domain
    pfam10581
    Location:230
    Synapsin_N; Synapsin N-terminal

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p7 Primary Assembly

    Range
    12004360..12192032
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006713311.3XP_006713374.1  synapsin-2 isoform X1

    Conserved Domains (3) summary
    pfam02078
    Location:115212
    Synapsin; Synapsin, N-terminal domain
    pfam02750
    Location:214416
    Synapsin_C; Synapsin, ATP binding domain
    pfam10581
    Location:230
    Synapsin_N; Synapsin N-terminal
  2. XM_006713312.3XP_006713375.1  synapsin-2 isoform X2

    Conserved Domains (1) summary
    pfam02750
    Location:53255
    Synapsin_C; Synapsin, ATP binding domain
  3. XM_006713313.2XP_006713376.1  synapsin-2 isoform X4

    Conserved Domains (1) summary
    cl17255
    Location:1159
    ATP-grasp_4; ATP-grasp domain
  4. XM_017007087.1XP_016862576.1  synapsin-2 isoform X3

RNA

  1. XR_001740240.1 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018914.2 Alternate CHM1_1.1

    Range
    11995601..12183794
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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