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Aliases for ESYT2 Gene

Aliases for ESYT2 Gene

  • Extended Synaptotagmin Protein 2 2 3
  • Extended Synaptotagmin-Like Protein 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 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 Protein 2) is a Protein Coding gene. GO annotations related to this gene include calcium ion binding and phosphatidylinositol binding. An important paralog of this gene is MCTP1.

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 , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ESYT2 Gene

Genomics for ESYT2 Gene

Regulatory Elements for ESYT2 Gene

Promoters for ESYT2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ESYT2 on UCSC Golden Path with GeneCards custom track

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

Proteomics data for ESYT2 Gene at MOPED

Post-translational modifications for ESYT2 Gene

  • Ubiquitination at Lys 239, Lys 405, and Lys 411
  • 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).
  • Contains 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).
  • Contains 3 C2 domains.
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:0005515 protein binding IEA,IPI 23791178
GO:0008289 lipid binding IEA --
GO:0031210 phosphatidylcholine binding IDA 24847877
GO:0035091 phosphatidylinositol 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 Model Products

miRNA for ESYT2 Gene

miRTarBase miRNAs that target ESYT2

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , 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
Jensen Localization Image for ESYT2 Gene COMPARTMENTS Subcellular localization image for ESYT2 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 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:0016020 membrane IDA 19946888
GO:0016021 integral component of membrane IEA --
GO:0031234 extrinsic component of cytoplasmic side of plasma membrane IMP 23791178
genes like me logo Genes that share ontologies with ESYT2: view

Pathways & Interactions for ESYT2 Gene

SuperPathways for ESYT2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ESYT2 Gene

None

No data available for Pathways by source and 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:

Inhibitory RNA Products

Flow Cytometry Products

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 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



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.
genes like me logo Genes that share expression patterns with ESYT2: view

Protein tissue co-expression partners for ESYT2 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues 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
cow
(Bos Taurus)
Mammalia ESYT2 36
  • 87 (a)
OneToOne
ESYT2 35
  • 85.38 (n)
  • 89.03 (a)
dog
(Canis familiaris)
Mammalia ESYT2 36
  • 90 (a)
OneToOne
ESYT2 35
  • 88.75 (n)
  • 92.47 (a)
mouse
(Mus musculus)
Mammalia Esyt2 16
Esyt2 36
  • 93 (a)
OneToOne
Esyt2 35
  • 87.78 (n)
  • 93.18 (a)
oppossum
(Monodelphis domestica)
Mammalia ESYT2 36
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ESYT2 36
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Esyt2 35
  • 84.68 (n)
  • 88.38 (a)
chicken
(Gallus gallus)
Aves NCAPG2 35
  • 79.27 (n)
  • 88.84 (a)
ESYT2 36
  • 77 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 77 (a)
OneToMany
-- 36
  • 75 (a)
OneToMany
African clawed frog
(Xenopus laevis)
Amphibia kiaa1228-prov 35
tropical clawed frog
(Silurana tropicalis)
Amphibia esyt2 35
  • 71.06 (n)
  • 76.11 (a)
Str.9611 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8376 35
zebrafish
(Danio rerio)
Actinopterygii ESYT2 (2 of 3) 36
  • 58 (a)
OneToMany
ESYT2 (3 of 3) 36
  • 75 (a)
OneToMany
esyt2a 36
  • 55 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003725 35
  • 47.63 (n)
  • 36.53 (a)
fruit fly
(Drosophila melanogaster)
Insecta Esyt2 35
  • 48.05 (n)
  • 37.37 (a)
Esyt2 36
  • 31 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea esyt-2 35
  • 47.9 (n)
  • 37.77 (a)
esyt-2 36
  • 33 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons SYTB 35
  • 45.41 (n)
  • 28.44 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 33 (a)
OneToMany
Species with no ortholog for ESYT2:
  • 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
rs13233513 - 158,798,049(+) TTGGC(A/T)AATGA reference, missense
rs2305473 - 158,743,576(+) GTTAC(C/T)GAGCT reference, missense
rs2013 -- 158,731,197(+) GCTTA(C/T)GTGCC utr-variant-3-prime
rs842432 -- 158,757,307(+) CAAAG(A/G)AAGAA intron-variant
rs842437 -- 158,762,758(+) TACGG(C/T)GGCAG intron-variant

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

Variant ID Type Subtype PubMed ID
dgv7578n71 CNV Gain 21882294
nsv889644 CNV Gain 21882294
esv27406 CNV Loss 19812545
nsv819866 CNV Loss 19587683
esv2598484 CNV Insertion 19546169
esv2736032 CNV Deletion 23290073
esv2736033 CNV Deletion 23290073
esv1449096 CNV Insertion 17803354
nsv889647 CNV Gain 21882294
nsv889648 CNV Gain 21882294
nsv824429 CNV Loss 20364138
nsv824430 CNV Loss 20364138
esv2660913 CNV Deletion 23128226
esv3311 CNV Deletion 18987735
esv2671217 CNV Deletion 23128226
esv2736034 CNV Deletion 23290073
esv2667452 CNV Deletion 23128226
nsv518319 CNV Gain 19592680
esv2660287 CNV Deletion 23128226
esv2736035 CNV Deletion 23290073
esv2588508 CNV Deletion 19546169
esv2736036 CNV Deletion 23290073
esv2025911 CNV Deletion 18987734
esv4476 CNV Deletion 18987735
esv2736037 CNV Deletion 23290073
esv1040592 CNV Deletion 17803354
esv2736038 CNV Deletion 23290073
nsv366535 CNV Loss 16902084
esv2736040 CNV Deletion 23290073
esv1110311 CNV Deletion 17803354
esv988575 CNV Deletion 20482838
nsv889649 CNV Gain 21882294
nsv366251 CNV Loss 16902084

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

HapMap Linkage Disequilibrium report
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 67
  2. 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
  3. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3
  4. 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
  5. Structure and Ca(2+)-binding properties of the tandem C(2) domains of E-Syt2. (PMID: 24373768) Xu J. … Rizo J. (Structure 2014) 3

Products for ESYT2 Gene

Sources for ESYT2 Gene

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