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SYN2 synapsin II [ Homo sapiens (human) ]

Gene ID: 6854, updated on 23-Nov-2021

Summary

Official Symbol
SYN2provided by HGNC
Official Full Name
synapsin IIprovided by HGNC
Primary source
HGNC:HGNC:11495
See related
Ensembl:ENSG00000157152 MIM:600755
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]
Expression
Biased expression in brain (RPKM 41.0) and fat (RPKM 5.3) See more
Orthologs
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Genomic context

See SYN2 in Genome Data Viewer
Location:
3p25.2
Exon count:
17
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (12004366..12192032)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (12045862..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 Sharpr-MPRA regulatory region 7614 Neighboring gene actin gamma 1 pseudogene 12 Neighboring gene Sharpr-MPRA regulatory region 15359 Neighboring gene MT-CO1 pseudogene 5 Neighboring gene TIMP metallopeptidase inhibitor 4 Neighboring gene glutathione S-transferase mu 5 pseudogene 1 Neighboring gene peroxisome proliferator activated receptor gamma Neighboring gene PPARG eExon liver enhancer

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 genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.
GeneReviews: Not available
Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes.
GeneReviews: Not available
New gene functions in megakaryopoiesis and platelet formation.
GeneReviews: Not available
Schizophrenia
MedGen: C0036341 OMIM: 181500 GeneReviews: Not available
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Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding TAS
Traceable Author Statement
more info
PubMed 
enables identical protein binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in calcium-ion regulated exocytosis IEA
Inferred from Electronic Annotation
more info
 
involved_in chemical synaptic transmission TAS
Traceable Author Statement
more info
PubMed 
involved_in neurotransmitter secretion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in neurotransmitter secretion ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in synaptic vesicle clustering IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
part_of SNARE complex IEA
Inferred from Electronic Annotation
more info
 
located_in Schaffer collateral - CA1 synapse IEA
Inferred from Electronic Annotation
more info
 
located_in glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
 
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
 
located_in postsynaptic density IEA
Inferred from Electronic Annotation
more info
 
located_in synapse ISS
Inferred from Sequence or Structural Similarity
more info
 
is_active_in synaptic vesicle membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in synaptic vesicle membrane ISS
Inferred from Sequence or Structural Similarity
more info
 

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_011728.2 RefSeqGene

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

mRNA and Protein(s)

  1. NM_003178.6NP_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)
    ABBA01025208, AC022234, AC026166, AC091492
    Consensus CDS
    CCDS74901.1
    UniProtKB/Swiss-Prot
    Q92777
    UniProtKB/TrEMBL
    A0A087X2E3, Q59GM1
    Related
    ENSP00000484916.1, ENST00000620175.4
    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_133625.6NP_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)
    ABBA01025208, AC022234, AC026166, AC091492
    Consensus CDS
    CCDS74900.1
    UniProtKB/TrEMBL
    A0A087WW96, B3KRB3, Q86VA8
    Related
    ENSP00000480050.1, ENST00000621198.5
    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 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_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    12004366..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_006713312.4XP_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

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