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Aliases for ESYT2 Gene

Aliases for ESYT2 Gene

  • Extended Synaptotagmin 2 2 3 5
  • Family With Sequence Similarity 62 (C2 Domain Containing), Member B 2 3
  • CHR2SYT 3 4
  • FAM62B 3 4
  • E-Syt2 3 4
  • Extended Synaptotagmin-Like Protein 2 2
  • Extended Synaptotagmin Like Protein 2 3
  • Extended Synaptotagmin Protein 2 3
  • Extended Synaptotagmin-2 3
  • Chr2 Synaptotagmin 3
  • KIAA1228 4

External Ids for ESYT2 Gene

Previous HGNC Symbols for ESYT2 Gene

  • FAM62B

Previous GeneCards Identifiers for ESYT2 Gene

  • GC07M158217
  • GC07M158523
  • GC07M152262

Summaries for ESYT2 Gene

GeneCards Summary for ESYT2 Gene

ESYT2 (Extended Synaptotagmin 2) is a Protein Coding gene. Among its related pathways are Metabolism and Sphingolipid metabolism. GO annotations related to this gene include calcium ion binding and phosphatidylinositol binding. An important paralog of this gene is ESYT1.

UniProtKB/Swiss-Prot for ESYT2 Gene

  • Tethers the endoplasmic reticulum to the cell membrane and promotes the formation of appositions between the endoplasmic reticulum and the cell membrane. Binds glycerophospholipids in a barrel-like domain and may play a role in cellular lipid transport. Plays a role in FGF signaling via its role in the rapid internalization of FGFR1 that has been activated by FGF1 binding; this occurs most likely via the AP-2 complex.

Gene Wiki entry for ESYT2 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ESYT2 Gene

Genomics for ESYT2 Gene

Regulatory Elements for ESYT2 Gene

Enhancers for ESYT2 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
GH07G158782 1.4 Ensembl ENCODE dbSUPER 24.8 +46.4 46445 3.0 ATF1 ZNF493 SIN3A RAD21 ZNF335 ZNF138 ZNF354C FOS ZNF202 ZNF680 ESYT2 NCAPG2 WDR60 PIR61971 GC07P158720
GH07G158809 2 FANTOM5 Ensembl ENCODE dbSUPER 16.7 +12.5 12497 16.6 DMAP1 FEZF1 YY1 ZNF143 ZNF263 TBX21 SSRP1 ZNF610 RCOR2 NBN ESYT2 WDR60 NCAPG2 PIR38782
GH07G158778 1.2 Ensembl ENCODE dbSUPER 26.8 +50.6 50593 1.4 CTCF LEF1 ESRRA NFIB NFIA RAD21 ZKSCAN1 ZNF121 ZNF664 MEF2D ESYT2 NCAPG2 WDR60 PIR61971 GC07P158720
GH07G158739 1.2 Ensembl ENCODE 24.3 +89.3 89337 2.7 TCF12 ZNF766 CBX5 GATA2 FOS KDM4B JUNB NCOA1 ZNF592 MBD2 ESYT2 NCAPG2 GC07P158720 PIR61971
GH07G158801 1.6 FANTOM5 Ensembl ENCODE dbSUPER 17.8 +26.5 26457 3.9 PKNOX1 CBX3 SIN3A YBX1 CBX5 FOS SMARCC1 CEBPB ZNF217 MAFF ESYT2 NCAPG2 WDR60 PIR38782 PIR61971
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ESYT2 on UCSC Golden Path with GeneCards custom track

Promoters for ESYT2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000220327 1053 2801 MLX CREB3L1 AGO1 DMAP1 YY1 ZNF143 ZNF263 SP3 NFYC TBX21

Genomic Location for ESYT2 Gene

Chromosome:
7
Start:
158,730,995 bp from pter
End:
158,830,253 bp from pter
Size:
99,259 bases
Orientation:
Minus strand

Genomic View for ESYT2 Gene

Genes around ESYT2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ESYT2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ESYT2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ESYT2 Gene

Proteins for ESYT2 Gene

  • Protein details for ESYT2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A0FGR8-ESYT2_HUMAN
    Recommended name:
    Extended synaptotagmin-2
    Protein Accession:
    A0FGR8
    Secondary Accessions:
    • A4D229
    • Q69YJ2
    • Q6UKI4
    • Q6ZTU0
    • Q6ZVU1
    • Q9BQS0
    • Q9NW47
    • Q9ULJ2

    Protein attributes for ESYT2 Gene

    Size:
    921 amino acids
    Molecular mass:
    102357 Da
    Quaternary structure:
    • Homodimer. Interacts with ESYT1 and ESYT3. Interacts with FGFR1 that has been activated by FGF1 binding. Interacts with the AP-2 complex; identified in a complex with the AP-2 complex and FGFR1.
    SequenceCaution:
    • Sequence=BAA91539.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAC85769.1; Type=Frameshift; Positions=800; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ESYT2 Gene

    Alternative splice isoforms for ESYT2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ESYT2 Gene

Post-translational modifications for ESYT2 Gene

  • Ubiquitination at Lys239, isoforms=2, 4, 6405, and isoforms=2, 4, 6411
  • Modification sites at PhosphoSitePlus

Other Protein References for ESYT2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ESYT2 Gene

Domains & Families for ESYT2 Gene

Gene Families for ESYT2 Gene

Protein Domains for ESYT2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ESYT2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

A0FGR8

UniProtKB/Swiss-Prot:

ESYT2_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 (PubMed:24373768). 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).
  • The SMP-LBD domain is a barrel-like domain that binds glycerophospholipids in its interior; can bind two lipid molecules simultaneously. Binds a variety of lipids, including phosphatidylethanolamine, phosphatidylcholine and phosphatidylinositol (PubMed:24847877).
Family:
  • Belongs to the extended synaptotagmin family.
genes like me logo Genes that share domains with ESYT2: view

Function for ESYT2 Gene

Molecular function for ESYT2 Gene

UniProtKB/Swiss-Prot Function:
Tethers the endoplasmic reticulum to the cell membrane and promotes the formation of appositions between the endoplasmic reticulum and the cell membrane. Binds glycerophospholipids in a barrel-like domain and may play a role in cellular lipid transport. Plays a role in FGF signaling via its role in the rapid internalization of FGFR1 that has been activated by FGF1 binding; this occurs most likely via the AP-2 complex.

Gene Ontology (GO) - Molecular Function for ESYT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IDA 24373768
GO:0005515 protein binding IPI 23791178
GO:0005544 calcium-dependent phospholipid binding IDA 17360437
GO:0008289 lipid binding IEA --
GO:0008429 phosphatidylethanolamine binding IDA 24847877
genes like me logo Genes that share ontologies with ESYT2: view
genes like me logo Genes that share phenotypes with ESYT2: view

Animal Models for ESYT2 Gene

MGI Knock Outs for ESYT2:

Animal Model Products

CRISPR Products

miRNA for ESYT2 Gene

miRTarBase miRNAs that target ESYT2

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for ESYT2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ESYT2 Gene

Localization for ESYT2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ESYT2 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 ESYT2 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 5
cytosol 4
nucleus 2
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for ESYT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IEA,TAS --
GO:0005886 plasma membrane IEA --
GO:0005887 integral component of plasma membrane IDA 17360437
GO:0016020 membrane IDA,IEA 19946888
genes like me logo Genes that share ontologies with ESYT2: view

Pathways & Interactions for ESYT2 Gene

genes like me logo Genes that share pathways with ESYT2: view

Pathways by source for ESYT2 Gene

Gene Ontology (GO) - Biological Process for ESYT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006687 glycosphingolipid metabolic process TAS --
GO:0006810 transport IEA --
GO:0006869 lipid transport IEA --
GO:0006897 endocytosis IEA --
genes like me logo Genes that share ontologies with ESYT2: view

No data available for SIGNOR curated interactions for ESYT2 Gene

Drugs & Compounds for ESYT2 Gene

(1) Drugs for ESYT2 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 ESYT2: view

Transcripts for ESYT2 Gene

Unigene Clusters for ESYT2 Gene

Extended synaptotagmin-like protein 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for ESYT2

Alternative Splicing Database (ASD) splice patterns (SP) for ESYT2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18 ^ 19a · 19b ^ 20a · 20b ^ 21a ·
SP1: - - -
SP2: -
SP3: - -
SP4:
SP5: -
SP6:
SP7:
SP8: - -
SP9:
SP10:
SP11:

ExUns: 21b ^ 22a · 22b · 22c ^ 23a · 23b ^ 24a · 24b ^ 25a · 25b ^ 26 ^ 27a · 27b · 27c · 27d
SP1: - - - - -
SP2: - - - - -
SP3: - - - - -
SP4:
SP5:
SP6: - - - - - -
SP7:
SP8:
SP9:
SP10: -
SP11:

Relevant External Links for ESYT2 Gene

GeneLoc Exon Structure for
ESYT2
ECgene alternative splicing isoforms for
ESYT2

Expression for ESYT2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ESYT2 Gene

Protein differential expression in normal tissues from HIPED for ESYT2 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (12.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ESYT2 Gene



Protein tissue co-expression partners for ESYT2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ESYT2 Gene:

ESYT2

SOURCE GeneReport for Unigene cluster for ESYT2 Gene:

Hs.490795

mRNA Expression by UniProt/SwissProt for ESYT2 Gene:

A0FGR8-ESYT2_HUMAN
Tissue specificity: Widely expressed with high level in cerebellum.

Evidence on tissue expression from TISSUES for ESYT2 Gene

  • Nervous system(4.7)
  • Intestine(4.5)
  • Liver(4.3)
genes like me logo Genes that share expression patterns with ESYT2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for ESYT2 Gene

Orthologs for ESYT2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ESYT2 Gene

Organism Taxonomy Gene Similarity Type Details
platypus
(Ornithorhynchus anatinus)
Mammalia ESYT2 35
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ESYT2 35 34
  • 88.75 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Esyt2 34 16 35
  • 87.78 (n)
cow
(Bos Taurus)
Mammalia ESYT2 35 34
  • 85.38 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Esyt2 34
  • 84.68 (n)
oppossum
(Monodelphis domestica)
Mammalia ESYT2 35
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves NCAPG2 34
  • 79.27 (n)
ESYT2 35
  • 77 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 77 (a)
OneToMany
-- 35
  • 75 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia esyt2 34
  • 71.06 (n)
Str.9611 34
African clawed frog
(Xenopus laevis)
Amphibia kiaa1228-prov 34
zebrafish
(Danio rerio)
Actinopterygii ESYT2 (3 of 3) 35
  • 75 (a)
OneToMany
ESYT2 (2 of 3) 35
  • 58 (a)
OneToMany
esyt2a 35
  • 55 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8376 34
fruit fly
(Drosophila melanogaster)
Insecta Esyt2 34 35
  • 48.05 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003725 34
  • 47.63 (n)
worm
(Caenorhabditis elegans)
Secernentea esyt-2 34 35
  • 47.9 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons SYTB 34
  • 45.41 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 33 (a)
OneToMany
Species where no ortholog for ESYT2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • chimpanzee (Pan troglodytes)
  • 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)
  • rice (Oryza sativa)
  • 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 ESYT2 Gene

ENSEMBL:
Gene Tree for ESYT2 (if available)
TreeFam:
Gene Tree for ESYT2 (if available)

Paralogs for ESYT2 Gene

Paralogs for ESYT2 Gene

(5) SIMAP similar genes for ESYT2 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with ESYT2: view

Variants for ESYT2 Gene

Sequence variations from dbSNP and Humsavar for ESYT2 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs1000045701 -- 158,824,738(+) TTTAT(C/T)GGCAA intron-variant
rs1000065802 -- 158,742,524(+) GGGGT(C/T)TCCAC intron-variant
rs1000097392 -- 158,809,582(+) AAAAG(A/C)TGCTC intron-variant
rs1000118006 -- 158,781,434(+) GAAGT(-/GTGA)GTGTG intron-variant, utr-variant-3-prime
rs1000140436 -- 158,753,144(+) GTGGG(A/G)CTTTA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ESYT2 Gene

Variant ID Type Subtype PubMed ID
dgv11804n54 CNV gain 21841781
dgv3728n106 CNV deletion 24896259
dgv4029e59 CNV duplication 20981092
dgv6772n100 CNV gain 25217958
esv1040592 CNV deletion 17803354
esv1110311 CNV deletion 17803354
esv1449096 CNV insertion 17803354
esv2025911 CNV deletion 18987734
esv2588508 CNV deletion 19546169
esv2598484 CNV insertion 19546169
esv2660287 CNV deletion 23128226
esv2660913 CNV deletion 23128226
esv2667452 CNV deletion 23128226
esv2671217 CNV deletion 23128226
esv2736032 CNV deletion 23290073
esv2736033 CNV deletion 23290073
esv2736034 CNV deletion 23290073
esv2736035 CNV deletion 23290073
esv2736036 CNV deletion 23290073
esv2736037 CNV deletion 23290073
esv2736038 CNV deletion 23290073
esv2736040 CNV deletion 23290073
esv27406 CNV loss 19812545
esv3311 CNV loss 18987735
esv3542819 CNV deletion 23714750
esv3576497 CNV gain 25503493
esv3615729 CNV gain 21293372
esv3615738 CNV gain 21293372
esv3615739 CNV loss 21293372
esv3615740 CNV gain 21293372
esv3615741 CNV gain 21293372
esv3615742 CNV loss 21293372
esv3615743 CNV gain 21293372
esv3615744 CNV gain 21293372
esv3615746 CNV gain 21293372
esv3891247 CNV gain 25118596
esv4476 CNV loss 18987735
esv988575 CNV deletion 20482838
nsv1075081 CNV deletion 25765185
nsv1076637 CNV duplication 25765185
nsv1124305 CNV deletion 24896259
nsv1124307 CNV deletion 24896259
nsv1128388 CNV deletion 24896259
nsv1130873 CNV deletion 24896259
nsv1137326 CNV deletion 24896259
nsv1140209 CNV insertion 24896259
nsv1142676 CNV deletion 24896259
nsv1145881 CNV deletion 26484159
nsv1146181 CNV deletion 26484159
nsv1148708 CNV duplication 26484159
nsv1154056 CNV deletion 26484159
nsv366251 CNV deletion 16902084
nsv366535 CNV deletion 16902084
nsv518319 CNV gain 19592680
nsv609363 CNV loss 21841781
nsv609419 CNV gain 21841781
nsv819866 CNV loss 19587683
nsv824429 CNV loss 20364138
nsv824430 CNV loss 20364138
nsv957631 CNV deletion 24416366

Variation tolerance for ESYT2 Gene

Residual Variation Intolerance Score: 13.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 17.12; 98.06% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ESYT2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ESYT2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ESYT2 Gene

Disorders for ESYT2 Gene

Relevant External Links for ESYT2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ESYT2

No disorders were found for ESYT2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ESYT2 Gene

Publications for ESYT2 Gene

  1. Structure of a lipid-bound extended synaptotagmin indicates a role in lipid transfer. (PMID: 24847877) Schauder C.M. … Reinisch K.M. (Nature 2014) 3 4 64
  2. Structure and Ca(2+)-binding properties of the tandem C(2) domains of E-Syt2. (PMID: 24373768) Xu J. … Rizo J. (Structure 2014) 3 4 64
  3. 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
  4. 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
  5. 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

Products for ESYT2 Gene

  • Addgene plasmids for ESYT2

Sources for ESYT2 Gene

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