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Aliases for ESYT3 Gene

Aliases for ESYT3 Gene

  • Extended Synaptotagmin 3 2 3 5
  • Family With Sequence Similarity 62 (C2 Domain Containing), Member C 2 3
  • CHR3SYT 3 4
  • FAM62C 3 4
  • E-Syt3 3 4
  • Extended Synaptotagmin-Like Protein 3 2
  • Extended Synaptotagmin Protein 3 3
  • Extended Synaptotagmin-3 3
  • Chr3 Synaptotagmin 3

External Ids for ESYT3 Gene

Previous HGNC Symbols for ESYT3 Gene

  • FAM62C

Previous GeneCards Identifiers for ESYT3 Gene

  • GC03P139638
  • GC03P138153
  • GC03P135528

Summaries for ESYT3 Gene

GeneCards Summary for ESYT3 Gene

ESYT3 (Extended Synaptotagmin 3) is a Protein Coding gene. Among its related pathways are Metabolism and Sphingolipid metabolism. GO annotations related to this gene include lipid binding and phospholipid binding. An important paralog of this gene is ESYT2.

UniProtKB/Swiss-Prot for ESYT3 Gene

  • Binds glycerophospholipids in a barrel-like domain and may play a role in cellular lipid transport (By similarity). Tethers the endoplasmic reticulum to the cell membrane and promotes the formation of appositions between the endoplasmic reticulum and the cell membrane.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ESYT3 Gene

Genomics for ESYT3 Gene

Regulatory Elements for ESYT3 Gene

Enhancers for ESYT3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03F138410 1.1 Ensembl ENCODE 7.5 -22.2 -22232 3.9 PTRF FOS HDAC8 CREB3 TFDP1 MEF2D ZNF589 SMARCA4 PBX2 IKZF1 NME9 MRAS ESYT3 LOC105374129 GC03M138428
GH03F138440 1 Ensembl ENCODE 5.1 +8.2 8221 5.2 HDAC1 PKNOX1 TAL1 JUN ZNF175 GATA2 NCOR1 FOS TCF7L2 SMARCE1 MRAS ESYT3 GC03M138467
GH03F138381 1.3 FANTOM5 Ensembl ENCODE 1.5 -52.4 -52367 1.8 SOX13 ELF3 CTCF SAP130 MAX CEBPG DMAP1 ZNF644 RARA TEAD3 MRAS NME9 ESYT3 GC03P138407 GC03M138344
GH03F138434 1 ENCODE 0.8 -0.1 -90 0.3 MLX ARID4B SIN3A DMAP1 ZNF48 SLC30A9 ELK1 FOS SP5 NFYC ESYT3 GC03M138428
GH03F138458 0.4 ENCODE 0.3 +23.6 23601 0.2 ZBTB33 GC03M138467 ESYT3
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ESYT3 on UCSC Golden Path with GeneCards custom track

Promoters for ESYT3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001852804 527 1401 MLX ARID4B SIN3A DMAP1 ZNF48 SLC30A9 ELK1 FOS SP5 NFYC

Genomic Location for ESYT3 Gene

Chromosome:
3
Start:
138,434,573 bp from pter
End:
138,481,686 bp from pter
Size:
47,114 bases
Orientation:
Plus strand

Genomic View for ESYT3 Gene

Genes around ESYT3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ESYT3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ESYT3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ESYT3 Gene

Proteins for ESYT3 Gene

  • Protein details for ESYT3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A0FGR9-ESYT3_HUMAN
    Recommended name:
    Extended synaptotagmin-3
    Protein Accession:
    A0FGR9
    Secondary Accessions:
    • A8K0G5
    • Q6ZV21
    • Q8NDZ5
    • Q9BQR9

    Protein attributes for ESYT3 Gene

    Size:
    886 amino acids
    Molecular mass:
    100035 Da
    Quaternary structure:
    • Interacts with ESYT1 and ESYT2.

    Alternative splice isoforms for ESYT3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ESYT3 Gene

Post-translational modifications for ESYT3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ESYT3 Gene

No data available for DME Specific Peptides for ESYT3 Gene

Domains & Families for ESYT3 Gene

Gene Families for ESYT3 Gene

Protein Domains for ESYT3 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ESYT3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

A0FGR9

UniProtKB/Swiss-Prot:

ESYT3_HUMAN :
  • Anchored to the endoplasmic reticulum membrane by a transmembrane hairpin structure; both N-terminus and C-terminus are cytoplasmic.
  • Belongs to the extended synaptotagmin family.
Domain:
  • Anchored to the endoplasmic reticulum membrane by a transmembrane hairpin structure; both N-terminus and C-terminus are cytoplasmic.
  • The C2 domains mediate lipid and calcium binding. The N-terminal C2 domain binds calcium ions and is important for calcium-dependent lipid binding and interaction with membranes. Two calcium ions are bound at a high-affinity site and a third calcium ion is bound with lower affinity. May bind up to four calcium ions. In contrast, the second C2 domain apparently does not bind calcium (By similarity). The third C2 domain mediates interaction with membranes enriched in phosphatidylinositol 4,5-bisphosphate and is required for location at the cell membrane (PubMed:23791178).
  • Contains a barrel-like domain that can bind various types of glycerophospholipids in its interior.
  • Contains 3 C2 domains.
Family:
  • Belongs to the extended synaptotagmin family.
genes like me logo Genes that share domains with ESYT3: view

Function for ESYT3 Gene

Molecular function for ESYT3 Gene

UniProtKB/Swiss-Prot Function:
Binds glycerophospholipids in a barrel-like domain and may play a role in cellular lipid transport (By similarity). Tethers the endoplasmic reticulum to the cell membrane and promotes the formation of appositions between the endoplasmic reticulum and the cell membrane.

Gene Ontology (GO) - Molecular Function for ESYT3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 23791178
GO:0008289 lipid binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ESYT3: view

Phenotypes for ESYT3 Gene

genes like me logo Genes that share phenotypes with ESYT3: view

Animal Models for ESYT3 Gene

MGI Knock Outs for ESYT3:

Animal Model Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for ESYT3

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for ESYT3 Gene

Localization for ESYT3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ESYT3 Gene

Cell membrane; Peripheral membrane protein. Endoplasmic reticulum membrane; Multi-pass membrane protein. Note=Detected at sites of contact between the endoplasmic reticulum membrane and the cell membrane. Recruited to the cell membrane via the third C2 domain.

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 ESYT3 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 5
nucleus 2
cytosol 2
extracellular 1
mitochondrion 1
peroxisome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for ESYT3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005886 plasma membrane IEA --
GO:0005887 integral component of plasma membrane IDA 17360437
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ESYT3: view

Pathways & Interactions for ESYT3 Gene

genes like me logo Genes that share pathways with ESYT3: view

Pathways by source for ESYT3 Gene

Gene Ontology (GO) - Biological Process for ESYT3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006869 lipid transport IEA --
genes like me logo Genes that share ontologies with ESYT3: view

No data available for SIGNOR curated interactions for ESYT3 Gene

Drugs & Compounds for ESYT3 Gene

(1) Drugs for ESYT3 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0
genes like me logo Genes that share compounds with ESYT3: view

Transcripts for ESYT3 Gene

Unigene Clusters for ESYT3 Gene

Extended synaptotagmin-like protein 3:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for ESYT3

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ESYT3 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16a · 16b ^ 17 ^ 18a · 18b ^ 19a · 19b ^ 20 ^ 21 ^ 22 ^
SP1: - -
SP2: - - - -
SP3:
SP4:

ExUns: 23
SP1:
SP2:
SP3:
SP4:

Relevant External Links for ESYT3 Gene

GeneLoc Exon Structure for
ESYT3
ECgene alternative splicing isoforms for
ESYT3

Expression for ESYT3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ESYT3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ESYT3 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x5.0), Brain - Cerebellum (x4.8), and Skin - Sun Exposed (Lower leg) (x4.3).

Protein differential expression in normal tissues from HIPED for ESYT3 Gene

This gene is overexpressed in Frontal cortex (66.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ESYT3 Gene



Protein tissue co-expression partners for ESYT3 Gene

NURSA nuclear receptor signaling pathways regulating expression of ESYT3 Gene:

ESYT3

SOURCE GeneReport for Unigene cluster for ESYT3 Gene:

Hs.477711

mRNA Expression by UniProt/SwissProt for ESYT3 Gene:

A0FGR9-ESYT3_HUMAN
Tissue specificity: Widely expressed with high level in cerebellum and skin.
genes like me logo Genes that share expression patterns with ESYT3: view

Primer Products

Orthologs for ESYT3 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ESYT3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ESYT3 34 35
  • 99.32 (n)
dog
(Canis familiaris)
Mammalia ESYT3 34 35
  • 90.5 (n)
cow
(Bos Taurus)
Mammalia ESYT3 34 35
  • 88.7 (n)
mouse
(Mus musculus)
Mammalia Esyt3 34 16 35
  • 85.25 (n)
rat
(Rattus norvegicus)
Mammalia Esyt3 34
  • 84.93 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ESYT3 35
  • 83 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ESYT3 35
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves FAM62C 34
  • 61.93 (n)
ESYT3 35
  • 55 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ESYT3 35
  • 48 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia esyt3 34
  • 60.86 (n)
Str.16348 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.10001 34
zebrafish
(Danio rerio)
Actinopterygii esyt3 34 35
  • 53.15 (n)
fruit fly
(Drosophila melanogaster)
Insecta Esyt2 35
  • 26 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea esyt-2 35
  • 30 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons NTMC2T2.1 34
  • 43.17 (n)
rice
(Oryza sativa)
Liliopsida Os08g0300200 34
  • 43.05 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 30 (a)
OneToMany
Species where no ortholog for ESYT3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ESYT3 Gene

ENSEMBL:
Gene Tree for ESYT3 (if available)
TreeFam:
Gene Tree for ESYT3 (if available)

Paralogs for ESYT3 Gene

Paralogs for ESYT3 Gene

(3) SIMAP similar genes for ESYT3 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with ESYT3: view

Variants for ESYT3 Gene

Sequence variations from dbSNP and Humsavar for ESYT3 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs10513053 -- 138,435,521(-) TTTGC(A/G)TCCGG intron-variant
rs10935281 -- 138,454,109(+) AATGC(A/G)TGGTG intron-variant
rs10935282 -- 138,472,390(+) AGCTG(A/G)GGAGC nc-transcript-variant, reference, missense
rs1109088 -- 138,435,953(-) AGCAC(C/T)GGAGA intron-variant
rs111258956 -- 138,445,764(+) GGAAG(C/G)ATACC intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for ESYT3 Gene

Variant ID Type Subtype PubMed ID
nsv999041 CNV gain 25217958
nsv591853 CNV loss 21841781
nsv522517 CNV loss 19592680
nsv428422 CNV gain+loss 18775914
esv3597915 CNV loss 21293372
esv3597914 CNV loss 21293372
esv3350188 CNV duplication 20981092
esv3302999 CNV tandem duplication 20981092

Variation tolerance for ESYT3 Gene

Residual Variation Intolerance Score: 98.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 14.49; 96.44% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ESYT3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ESYT3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ESYT3 Gene

Disorders for ESYT3 Gene

Relevant External Links for ESYT3

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ESYT3

No disorders were found for ESYT3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ESYT3 Gene

Publications for ESYT3 Gene

  1. Genomic analysis of synaptotagmin genes. (PMID: 11543631) Craxton M.A. (Genomics 2001) 2 3 4 64
  2. PI(4,5)P(2)-dependent and Ca(2+)-regulated ER-PM interactions mediated by the extended synaptotagmins. (PMID: 23791178) Giordano F. … De Camilli P. (Cell 2013) 3 4 64
  3. Evolutionary genomics of plant genes encoding N-terminal-TM-C2 domain proteins and the similar FAM62 genes and synaptotagmin genes of metazoans. (PMID: 17672888) Craxton M. (BMC Genomics 2007) 2 3 64
  4. E-Syts, a family of membranous Ca2+-sensor proteins with multiple C2 domains. (PMID: 17360437) Min S.-W. … Suedhof T.C. (Proc. Natl. Acad. Sci. U.S.A. 2007) 3 4 64
  5. Extended Synaptotagmin Interaction with the Fibroblast Growth Factor Receptor Depends on Receptor Conformation, Not Catalytic Activity. (PMID: 25922075) Tremblay M.G. … Moss T. (J. Biol. Chem. 2015) 3 64

Products for ESYT3 Gene

Sources for ESYT3 Gene

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