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    ESYT2 extended synaptotagmin 2 [ Homo sapiens (human) ]

    Gene ID: 57488, updated on 9-Dec-2024

    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; AllianceGenome:HGNC:22211
    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
    Summary
    Enables calcium ion binding activity; identical protein binding activity; and phospholipid binding activity. Predicted to be involved in endocytosis; endoplasmic reticulum-plasma membrane tethering; and lipid transport. Located in several cellular components, including cytoplasmic side of plasma membrane; endoplasmic reticulum membrane; and endoplasmic reticulum-plasma membrane contact site. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in fat (RPKM 29.7), thyroid (RPKM 27.6) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ESYT2 in Genome Data Viewer
    Location:
    7q36.3
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (158730997..158829509, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (159954852..160053446, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (158523688..158622200, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene non-SMC condensin II complex subunit G2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:158455355-158455856 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:158455857-158456356 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:158456637-158457836 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:158496256-158496834 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18866 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18867 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18868 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:158526538-158527737 Neighboring gene ribosomal protein L21 pseudogene 76 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:158589571-158590070 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:158593246-158593746 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:158593747-158594247 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:158596845-158597436 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:158604138-158604712 Neighboring gene Sharpr-MPRA regulatory region 8416 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26931 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26932 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18870 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18869 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18871 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18872 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18873 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26933 Neighboring gene uncharacterized LOC124901796 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18874 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:158650125-158650666 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:158654251-158654750 Neighboring gene dynein 2 intermediate chain 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:158670703-158671380 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:158671381-158672057 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:158702850-158704049 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:158735855-158736701 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:158749944-158750515 Neighboring gene uncharacterized LOC124901794

    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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA1228

    Gene Ontology Provided by GOA

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

    NEW Try the new Transcript table

    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
      Consensus CDS
      CCDS94243.1
      UniProtKB/Swiss-Prot
      A0FGR8, A4D229, Q69YJ2, Q6UKI4, Q6ZTU0, Q6ZVU1, Q9BQS0, Q9NW47, Q9ULJ2
      UniProtKB/TrEMBL
      H7BXI1
      Related
      ENSP00000275418.8, ENST00000275418.13
    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
      CCDS34791.2
      UniProtKB/Swiss-Prot
      A0FGR8, A4D229, Q69YJ2, Q6UKI4, Q6ZTU0, Q6ZVU1, Q9BQS0, Q9NW47, Q9ULJ2
      UniProtKB/TrEMBL
      A0A499FIX8
      Related
      ENSP00000251527.6, ENST00000251527.10

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      158730997..158829509 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024446846.2XP_024302614.2  extended synaptotagmin-2 isoform X1

      UniProtKB/Swiss-Prot
      A0FGR8, A4D229, Q69YJ2, Q6UKI4, Q6ZTU0, Q6ZVU1, Q9BQS0, Q9NW47, Q9ULJ2
    2. XM_047420659.1XP_047276615.1  extended synaptotagmin-2 isoform X5

    3. XM_024446847.2XP_024302615.1  extended synaptotagmin-2 isoform X5

      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_047420658.1XP_047276614.1  extended synaptotagmin-2 isoform X5

    5. XM_047420660.1XP_047276616.1  extended synaptotagmin-2 isoform X3

    6. XM_024446848.2XP_024302616.1  extended synaptotagmin-2 isoform X2

      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
    7. XM_024446849.2XP_024302617.2  extended synaptotagmin-2 isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      159954852..160053446 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054358714.1XP_054214689.1  extended synaptotagmin-2 isoform X1

      UniProtKB/Swiss-Prot
      A0FGR8, A4D229, Q69YJ2, Q6UKI4, Q6ZTU0, Q6ZVU1, Q9BQS0, Q9NW47, Q9ULJ2
    2. XM_054358716.1XP_054214691.1  extended synaptotagmin-2 isoform X3

    3. XM_054358715.1XP_054214690.1  extended synaptotagmin-2 isoform X2

    4. XM_054358717.1XP_054214692.1  extended synaptotagmin-2 isoform X4