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SV2C synaptic vesicle glycoprotein 2C [ Homo sapiens (human) ]

Gene ID: 22987, updated on 11-Jun-2021

Summary

Official Symbol
SV2Cprovided by HGNC
Official Full Name
synaptic vesicle glycoprotein 2Cprovided by HGNC
Primary source
HGNC:HGNC:30670
See related
Ensembl:ENSG00000122012 MIM:610291
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Expression
Biased expression in brain (RPKM 1.2), adrenal (RPKM 0.7) and 8 other tissues See more
Orthologs
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Genomic context

See SV2C in Genome Data Viewer
Location:
5q13.3
Exon count:
18
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (75847463..76353939)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (75379208..75649764)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene solute carrier family 25 member 5 pseudogene 9 Neighboring gene karyopherin subunit alpha 7 pseudogene Neighboring gene aconitate hydratase, mitochondrial pseudogene Neighboring gene bridging integrator 2 pseudogene 2 Neighboring gene spermine synthase pseudogene Neighboring gene SV2C antisense RNA 1 Neighboring gene RNA, 5S ribosomal pseudogene 186 Neighboring gene SAP18 pseudogene 1 Neighboring gene RAP1B like (pseudogene) Neighboring gene high mobility group nucleosomal binding domain 2 pseudogene 4 Neighboring gene uncharacterized LOC105379042 Neighboring gene GATA motif-containing MPRA enhancer 83 Neighboring gene programmed cell death 5 pseudogene 2 Neighboring gene Sharpr-MPRA regulatory region 10118 Neighboring gene small nuclear ribonucleoprotein polypeptide C pseudogene 2

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 association study for venous thromboembolism: the extended cohorts for heart and aging research in genomic epidemiology (CHARGE) consortium.
GeneReviews: Not available
Genetic variant predicts bevacizumab-induced hypertension in ECOG-5103 and ECOG-2100.
GeneReviews: Not available
Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
GeneReviews: Not available
Genome-wide meta-analysis identifies new susceptibility loci for migraine.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC118874, MGC118875, MGC118876, MGC118877

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables transmembrane transporter activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in chemical synaptic transmission IEA
Inferred from Electronic Annotation
more info
 
involved_in neurotransmitter transport IEA
Inferred from Electronic Annotation
more info
 
involved_in transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
is_active_in integral component of membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in integral component of synaptic vesicle membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in neuron projection IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
 
located_in synaptic vesicle TAS
Traceable Author Statement
more info
PubMed 
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
synaptic vesicle glycoprotein 2C
Names
synaptic vesicle protein 2C

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.

mRNA and Protein(s)

  1. NM_001297716.2NP_001284645.1  synaptic vesicle glycoprotein 2C isoform 2

    See identical proteins and their annotated locations for NP_001284645.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) has an alternate 3' terminal exon, compared to variant 1. The resulting isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC026774, AC026783, AC108091, AK094917
    Consensus CDS
    CCDS75261.1
    UniProtKB/TrEMBL
    B3KT41
    Related
    ENSP00000316983.7, ENST00000322285.7
    Conserved Domains (3) summary
    cd06174
    Location:155348
    MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
    TIGR01299
    Location:1667
    synapt_SV2; synaptic vesicle protein SV2
    pfam13576
    Location:507561
    Pentapeptide_3; Pentapeptide repeats (9 copies)
  2. NM_014979.4NP_055794.3  synaptic vesicle glycoprotein 2C isoform 1

    See identical proteins and their annotated locations for NP_055794.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AB028977, AC026774, AC108091, AC113404, AK094917, BC100825, DA725900, R44558
    Consensus CDS
    CCDS43331.1
    UniProtKB/Swiss-Prot
    Q496J9
    UniProtKB/TrEMBL
    B3KT41
    Related
    ENSP00000423541.2, ENST00000502798.7
    Conserved Domains (3) summary
    cd06174
    Location:155719
    MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
    TIGR01299
    Location:1727
    synapt_SV2; synaptic vesicle protein SV2
    pfam13576
    Location:507561
    Pentapeptide_3; Pentapeptide repeats (9 copies)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    75847463..76353939
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011543282.3XP_011541584.2  synaptic vesicle glycoprotein 2C isoform X1

    UniProtKB/Swiss-Prot
    Q496J9
    Conserved Domains (3) summary
    cd06174
    Location:155719
    MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
    TIGR01299
    Location:1727
    synapt_SV2; synaptic vesicle protein SV2
    pfam13576
    Location:507561
    Pentapeptide_3; Pentapeptide repeats (9 copies)
  2. XM_011543281.3XP_011541583.1  synaptic vesicle glycoprotein 2C isoform X1

    See identical proteins and their annotated locations for XP_011541583.1

    UniProtKB/Swiss-Prot
    Q496J9
    Conserved Domains (3) summary
    cd06174
    Location:155719
    MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
    TIGR01299
    Location:1727
    synapt_SV2; synaptic vesicle protein SV2
    pfam13576
    Location:507561
    Pentapeptide_3; Pentapeptide repeats (9 copies)
  3. XM_017009244.2XP_016864733.1  synaptic vesicle glycoprotein 2C isoform X2

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