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ESYT2 extended synaptotagmin 2 [ Homo sapiens (human) ]

Gene ID: 57488, updated on 27-Dec-2018

Summary

Official Symbol
ESYT2provided by HGNC
Official Full Name
extended synaptotagmin 2provided by HGNC
Primary source
HGNC:HGNC:22211
See related
Ensembl:ENSG00000117868 MIM:616691
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
Also known as
E-Syt2; FAM62B; CHR2SYT
Expression
Ubiquitous expression in fat (RPKM 29.7), thyroid (RPKM 27.6) and 25 other tissues See more
Orthologs

Genomic context

See ESYT2 in Genome Data Viewer
Location:
7q36.3
Exon count:
26
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 7 NC_000007.14 (158730997..158829628, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (158523688..158622729, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene non-SMC condensin II complex subunit G2 Neighboring gene ribosomal protein L21 pseudogene 76 Neighboring gene uncharacterized LOC105379752 Neighboring gene WD repeat domain 60 Neighboring gene LINC00689 intron CAGE-defined high expression enhancer Neighboring gene long intergenic non-protein coding RNA 689

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

Pathways from BioSystems

  • Glycosphingolipid metabolism, organism-specific biosystem (from REACTOME)
    Glycosphingolipid metabolism, organism-specific biosystemThe steps involved in the synthesis of glycosphingolipids (sphingolipids with one or more sugars attached) are annotated here (Gault et al. 2010).
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
    Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
  • Sphingolipid metabolism, organism-specific biosystem (from REACTOME)
    Sphingolipid metabolism, organism-specific biosystemSphingolipids are derivatives of long chain sphingoid bases such as sphingosine (trans-1,3-dihydroxy 2-amino-4-octadecene), an 18-carbon unsaturated amino alcohol which is the most abundant sphingoid...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA1228

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cadherin binding HDA PubMed 
calcium ion binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calcium ion binding IDA
Inferred from Direct Assay
more info
PubMed 
calcium-dependent phospholipid binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calcium-dependent phospholipid binding IDA
Inferred from Direct Assay
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
phosphatidylcholine binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphatidylcholine binding IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidylethanolamine binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphatidylethanolamine binding IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidylinositol binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphatidylinositol binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
endocytosis IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum-plasma membrane tethering IEA
Inferred from Electronic Annotation
more info
 
lipid transport IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
extended synaptotagmin-2
Names
chr2 synaptotagmin
extended synaptotagmin like protein 2
extended synaptotagmin protein 2
family with sequence similarity 62 (C2 domain containing), member B

NCBI Reference Sequences (RefSeq)

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_001367773.1NP_001354702.1  extended synaptotagmin-2 isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC019084
  2. NM_020728.3NP_065779.2  extended synaptotagmin-2 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AC019084
    Consensus CDS
    CCDS34791.1
    Related
    ENSP00000251527.5, ENST00000251527.9

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p12 Primary Assembly

    Range
    158730997..158829628 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024446846.1XP_024302614.1  extended synaptotagmin-2 isoform X2

    Conserved Domains (4) summary
    cd04030
    Location:733858
    C2C_KIAA1228; C2 domain third repeat present in uncharacterized human KIAA1228-like proteins
    cd04050
    Location:509589
    C2B_Synaptotagmin-like; C2 domain second repeat present in Synaptotagmin-like proteins
    cd08391
    Location:357477
    C2A_C2C_Synaptotagmin_like; C2 domain first and third repeat in Synaptotagmin-like proteins
    pfam17047
    Location:163342
    SMP_LBD; Synaptotagmin-like mitochondrial-lipid-binding domain
  2. XM_024446845.1XP_024302613.1  extended synaptotagmin-2 isoform X1

    Related
    ENSP00000275418.7, ENST00000275418.11
    Conserved Domains (4) summary
    cd04030
    Location:779904
    C2C_KIAA1228; C2 domain third repeat present in uncharacterized human KIAA1228-like proteins
    cd04050
    Location:509635
    C2B_Synaptotagmin-like; C2 domain second repeat present in Synaptotagmin-like proteins
    cd08391
    Location:357477
    C2A_C2C_Synaptotagmin_like; C2 domain first and third repeat in Synaptotagmin-like proteins
    pfam17047
    Location:163342
    SMP_LBD; Synaptotagmin-like mitochondrial-lipid-binding domain
  3. XM_024446847.1XP_024302615.1  extended synaptotagmin-2 isoform X3

    Conserved Domains (4) summary
    cd04030
    Location:603728
    C2C_KIAA1228; C2 domain third repeat present in uncharacterized human KIAA1228-like proteins
    cd04050
    Location:333459
    C2B_Synaptotagmin-like; C2 domain second repeat present in Synaptotagmin-like proteins
    cd08391
    Location:181301
    C2A_C2C_Synaptotagmin_like; C2 domain first and third repeat in Synaptotagmin-like proteins
    cl27773
    Location:1166
    SMP_LBD; Synaptotagmin-like mitochondrial-lipid-binding domain
  4. XM_024446848.1XP_024302616.1  extended synaptotagmin-2 isoform X4

    Conserved Domains (4) summary
    cd04030
    Location:562687
    C2C_KIAA1228; C2 domain third repeat present in uncharacterized human KIAA1228-like proteins
    cd04050
    Location:292418
    C2B_Synaptotagmin-like; C2 domain second repeat present in Synaptotagmin-like proteins
    cd08391
    Location:140260
    C2A_C2C_Synaptotagmin_like; C2 domain first and third repeat in Synaptotagmin-like proteins
    cl27773
    Location:16125
    SMP_LBD; Synaptotagmin-like mitochondrial-lipid-binding domain
  5. XM_024446849.1XP_024302617.1  extended synaptotagmin-2 isoform X5

    Conserved Domains (2) summary
    cd08391
    Location:357477
    C2A_C2C_Synaptotagmin_like; C2 domain first and third repeat in Synaptotagmin-like proteins
    pfam17047
    Location:163342
    SMP_LBD; Synaptotagmin-like mitochondrial-lipid-binding domain

RNA

  1. XR_002956471.1 RNA Sequence

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