This gene encodes an integral membrane protein containing four transmembrane regions and a C-terminal cytoplasmic tail that is tyrosine phosphorylated. The exact function of this protein is unclear, but studies of a similar rat protein suggest that it may play a role in regulating membrane traffic in non-neuronal cells. The gene belongs to the synaptogyrin gene family. Alternat... See more...

Aliases for SYNGR2 Gene

Aliases for SYNGR2 Gene

  • Synaptogyrin 2 2 3 5
  • Cellugyrin 2 3 4
  • Synaptogyrin-2 3 4
  • SYNGR2 5

External Ids for SYNGR2 Gene

Previous GeneCards Identifiers for SYNGR2 Gene

  • GC17P075988
  • GC17P079151
  • GC17P076625
  • GC17P076761
  • GC17P073676
  • GC17P076164
  • GC17P071589

Summaries for SYNGR2 Gene

Entrez Gene Summary for SYNGR2 Gene

  • This gene encodes an integral membrane protein containing four transmembrane regions and a C-terminal cytoplasmic tail that is tyrosine phosphorylated. The exact function of this protein is unclear, but studies of a similar rat protein suggest that it may play a role in regulating membrane traffic in non-neuronal cells. The gene belongs to the synaptogyrin gene family. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]

GeneCards Summary for SYNGR2 Gene

SYNGR2 (Synaptogyrin 2) is a Protein Coding gene. Diseases associated with SYNGR2 include Charcot-Marie-Tooth Disease, Type 4D and Leukoencephalopathy With Vanishing White Matter. An important paralog of this gene is SYNGR1.

UniProtKB/Swiss-Prot Summary for SYNGR2 Gene

  • May play a role in regulated exocytosis. In neuronal cells, modulates the localization of synaptophysin/SYP into synaptic-like microvesicles and may therefore play a role in the formation and/or the maturation of this vesicles. May also play a role in GLUT4 storage and transport to the plasma membrane.
  • (Microbial infection) May play a role in the assembly of cytoplasmic inclusion bodies required for SFTS phlebovirus replication.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SYNGR2 Gene

Genomics for SYNGR2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SYNGR2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J078167 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 264.2 +0.6 557 2.6 CHD2 SP1 ZBTB10 MXD4 MNT BRCA1 SMAD5 ZNF217 POLR2A ZEB1 SYNGR2 piR-37410 piR-52524 USP36 ENGASE AFMID
GH17J078166 Promoter/Enhancer 0.9 Ensembl ENCODE 261.5 -1.7 -1704 1.1 FOXA2 ADNP FOXP1 FOXA1 ZBTB33 ZNF384 KLF1 CEBPB SP5 RBAK SYNGR2 USP36 HSALNG0119014 C17orf99
GH17J078120 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 12.7 -40.6 -40595 14.8 TBP SP1 ZBTB10 MXD4 FEZF1 NR2C1 MNT IKZF1 SMAD5 HES1 TMC8 TMC6 HSALNG0119006 lnc-TK1-4 USP36 SYNGR2 TK1 AFMID TNRC6C-AS1 ENGASE
GH17J078136 Promoter/Enhancer 1.7 Ensembl ENCODE CraniofacialAtlas dbSUPER 13.6 -28.8 -28813 6.3 TBP SP1 CEBPA MNT IKZF1 SMAD5 HES1 MBD2 ZNF217 POLR2A KY994051 SYNGR2 TK1 AFMID TMC8 TMC6 HSALNG0119010 NONHSAG022878.2 C17orf99
GH17J078112 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 12.2 -54.6 -54644 4.6 CHD2 MXD4 SMAD5 ZNF217 POLR2A CTCF ZIC2 THAP11 ZNF623 REST HSALNG0119002 TMEM235 USP36 TK1 AFMID C17orf99 SYNGR2 RNU6-625P TNRC6C-AS1 TNRC6C
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SYNGR2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SYNGR2

Top Transcription factor binding sites by QIAGEN in the SYNGR2 gene promoter:
  • AML1a
  • GATA-1
  • Nkx6-1
  • p53
  • Pax-2
  • Pax-2a
  • Pax-2b
  • Pax-5

Genomic Locations for SYNGR2 Gene

Latest Assembly
chr17:78,168,545-78,173,527
(GRCh38/hg38)
Size:
4,983 bases
Orientation:
Plus strand

Previous Assembly
chr17:76,164,626-76,169,045
(GRCh37/hg19 by Entrez Gene)
Size:
4,420 bases
Orientation:
Plus strand

chr17:76,164,639-76,169,608
(GRCh37/hg19 by Ensembl)
Size:
4,970 bases
Orientation:
Plus strand

Genomic View for SYNGR2 Gene

Genes around SYNGR2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SYNGR2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SYNGR2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SYNGR2 Gene

Proteins for SYNGR2 Gene

  • Protein details for SYNGR2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43760-SNG2_HUMAN
    Recommended name:
    Synaptogyrin-2
    Protein Accession:
    O43760
    Secondary Accessions:
    • O43762
    • Q3KQZ2
    • Q658S7

    Protein attributes for SYNGR2 Gene

    Size:
    224 amino acids
    Molecular mass:
    24810 Da
    Quaternary structure:
    • (Microbial infection) Interacts with SFTS phlebovirus protein NSs; may be involved in virus replication.

    Alternative splice isoforms for SYNGR2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SYNGR2 Gene

Post-translational modifications for SYNGR2 Gene

No data available for DME Specific Peptides for SYNGR2 Gene

Domains & Families for SYNGR2 Gene

Gene Families for SYNGR2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for SYNGR2 Gene

InterPro:
Blocks:
  • Marvel
ProtoNet:

Suggested Antigen Peptide Sequences for SYNGR2 Gene

GenScript: Design optimal peptide antigens:
  • SYNGR2 protein (Q3KQZ2_HUMAN)
  • Cellugyrin (SNG2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O43760

UniProtKB/Swiss-Prot:

SNG2_HUMAN :
  • Belongs to the synaptogyrin family.
Family:
  • Belongs to the synaptogyrin family.
genes like me logo Genes that share domains with SYNGR2: view

Function for SYNGR2 Gene

Molecular function for SYNGR2 Gene

UniProtKB/Swiss-Prot Function:
May play a role in regulated exocytosis. In neuronal cells, modulates the localization of synaptophysin/SYP into synaptic-like microvesicles and may therefore play a role in the formation and/or the maturation of this vesicles. May also play a role in GLUT4 storage and transport to the plasma membrane.
UniProtKB/Swiss-Prot Function:
(Microbial infection) May play a role in the assembly of cytoplasmic inclusion bodies required for SFTS phlebovirus replication.
UniProtKB/Swiss-Prot Induction:
(Microbial infection) Up-regulated upon SFTS phlebovirus infection (at protein level).
GENATLAS Biochemistry:
synaptogyrin 2,putative vesicle protein,expressed in all tissues except in brain

Phenotypes From GWAS Catalog for SYNGR2 Gene

Gene Ontology (GO) - Molecular Function for SYNGR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with SYNGR2: view
genes like me logo Genes that share phenotypes with SYNGR2: view

miRNA for SYNGR2 Gene

miRTarBase miRNAs that target SYNGR2

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SYNGR2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SYNGR2 Gene

Localization for SYNGR2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SYNGR2 Gene

Cytoplasmic vesicle membrane. Multi-pass membrane protein. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane. Multi-pass membrane protein. Note=Localizes to cytoplasmic vesicles associated with the recycling endosomes. {ECO:0000250 UniProtKB:O54980}.
Lipid droplet. Note=(Microbial infection) Upon SFTS phlebovirus infection, the protein localizes in lipid droplets and inclusion bodies. {ECO:0000269 PubMed:27226560}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SYNGR2 gene
Compartment Confidence
extracellular 4
plasma membrane 3
golgi apparatus 2
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SYNGR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005811 lipid droplet IEA --
GO:0008021 synaptic vesicle IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA,NAS 9760194
GO:0030054 cell junction IEA --
genes like me logo Genes that share ontologies with SYNGR2: view

Pathways & Interactions for SYNGR2 Gene

PathCards logo

SuperPathways for SYNGR2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SYNGR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016032 viral process IEA --
GO:0045055 regulated exocytosis ISS --
GO:0048499 synaptic vesicle membrane organization ISS --
genes like me logo Genes that share ontologies with SYNGR2: view

No data available for Pathways by source and SIGNOR curated interactions for SYNGR2 Gene

Drugs & Compounds for SYNGR2 Gene

No Compound Related Data Available

Transcripts for SYNGR2 Gene

mRNA/cDNA for SYNGR2 Gene

3 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SYNGR2

Alternative Splicing Database (ASD) splice patterns (SP) for SYNGR2 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b
SP1:
SP2: -

Relevant External Links for SYNGR2 Gene

GeneLoc Exon Structure for
SYNGR2

Expression for SYNGR2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SYNGR2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SYNGR2 Gene

This gene is overexpressed in Nasal epithelium (30.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SYNGR2 Gene



Protein tissue co-expression partners for SYNGR2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SYNGR2

SOURCE GeneReport for Unigene cluster for SYNGR2 Gene:

Hs.464210

mRNA Expression by UniProt/SwissProt for SYNGR2 Gene:

O43760-SNG2_HUMAN
Tissue specificity: Ubiquitous; low expression in brain.

Evidence on tissue expression from TISSUES for SYNGR2 Gene

  • Lung(4.8)
  • Skin(4.7)
  • Stomach(4.4)
  • Nervous system(3.9)
  • Pancreas(3.5)
  • Intestine(3.4)
  • Muscle(3.3)
  • Heart(2.5)
  • Kidney(2.4)
  • Liver(2.2)
  • Spleen(2)
genes like me logo Genes that share expression patterns with SYNGR2: view

Primer products for research

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for SYNGR2 Gene

Orthologs for SYNGR2 Gene

This gene was present in the common ancestor of animals.

Orthologs for SYNGR2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SYNGR2 30 31
  • 98.06 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SYNGR2 30 31
  • 89.73 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SYNGR2 30 31
  • 88.24 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Syngr2 30 17 31
  • 87.2 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Syngr2 30
  • 86.46 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia SYNGR2 31
  • 71 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SYNGR2 30 31
  • 73.96 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SYNGR2 31
  • 65 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia syngr2 30
  • 63.17 (n)
Zebrafish
(Danio rerio)
Actinopterygii LOC100537807 30
  • 60.84 (n)
syngr2b 31 31
  • 49 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta synaptogyrin 31 32
  • 38 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea sng-1 31
  • 26 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 44 (a)
OneToMany
Species where no ortholog for SYNGR2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for SYNGR2 Gene

ENSEMBL:
Gene Tree for SYNGR2 (if available)
TreeFam:
Gene Tree for SYNGR2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SYNGR2: view image

Paralogs for SYNGR2 Gene

Paralogs for SYNGR2 Gene

(3) SIMAP similar genes for SYNGR2 Gene using alignment to 6 proteins:

  • SNG2_HUMAN
  • K7EJ35_HUMAN
  • K7ELD9_HUMAN
  • K7ELS8_HUMAN
  • K7ENG9_HUMAN
  • Q3KQZ2_HUMAN

Pseudogenes.org Pseudogenes for SYNGR2 Gene

genes like me logo Genes that share paralogs with SYNGR2: view

Variants for SYNGR2 Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SYNGR2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for SYNGR2 Gene

Variant ID Type Subtype PubMed ID
nsv470607 CNV loss 18288195

Variation tolerance for SYNGR2 Gene

Residual Variation Intolerance Score: 67.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.58; 65.20% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SYNGR2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SYNGR2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SYNGR2 Gene

Disorders for SYNGR2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for SYNGR2 Gene - From: COP

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SYNGR2

genes like me logo Genes that share disorders with SYNGR2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SYNGR2 Gene

Publications for SYNGR2 Gene

  1. Characterization of the human synaptogyrin gene family. (PMID: 9760194) Kedra D … Dumanski JP (Human genetics 1998) 2 3 4 23
  2. Synaptogyrin-2 Promotes Replication of a Novel Tick-borne Bunyavirus through Interacting with Viral Nonstructural Protein NSs. (PMID: 27226560) Sun Q … Xing Z (The Journal of biological chemistry 2016) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  4. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 3 4
  5. A trimeric Rab7 GEF controls NPC1-dependent lysosomal cholesterol export. (PMID: 33144569) van den Boomen DJH … Lehner PJ (Nature communications 2020) 3

Products for SYNGR2 Gene

Sources for SYNGR2 Gene