ESYT2 extended synaptotagmin 2 [Homo sapiens (human)] - Gene

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 endoplasmic reticulum-plasma membrane contact site. Is extrinsic component of cytoplasmic side of plasma membrane; integral component of plasma membrane; and intrinsic component of endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in fat (RPKM 29.7), thyroid (RPKM 27.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7q36.3

Exon count:: 28

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (158730997..158829509, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (159954852..160053446, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (158523688..158622200, complement)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The short isoform of extended synaptotagmin-2 controls Ca(2+) dynamics in T cells via interaction with STIM1.
Title: The short isoform of extended synaptotagmin-2 controls Ca(2+) dynamics in T cells via interaction with STIM1.
ESyt2 and ESyt3, but not ESyt1, interact with activated FGFR1.
Title: Extended Synaptotagmin Interaction with the Fibroblast Growth Factor Receptor Depends on Receptor Conformation, Not Catalytic Activity.
2.44 A resolution the crystal structure of a fragment of extended synaptotagmin 2, including an SMP domain and two adjacent C2 domains; evidence for a role of SMP-domain-containing proteins in the control of lipid transfer at membrane contact sites
Title: Structure of a lipid-bound extended synaptotagmin indicates a role in lipid transfer.
The extended synaptotagmins (E-Syt1, E-Syt2, and E-Syt3) are endoplasmic reticulum-anchored proteins. They form homo- and heteromeric complexes that mediate contacts with the plasma membrane. Such contacts are critically dependent on the presence of PI(4,5)P2 in this membrane and are additionally regulated by cytosolic Ca2+ via the Ca2+-sensing property of E-Syt1.
Title: PI(4,5)P(2)-dependent and Ca(2+)-regulated ER-PM interactions mediated by the extended synaptotagmins.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D7S2310 (e-PCR)
- UniSTS:80906

D11S2921 (e-PCR)
- UniSTS:152074

WI-11602 (e-PCR)
- UniSTS:76304

D7S68 (e-PCR)
- UniSTS:29734

D11S2560 (e-PCR)
- UniSTS:37928

STS-N29903 (e-PCR)
- UniSTS:55082

GDB:1318102 (e-PCR)
- UniSTS:16456

GDB:1317774 (e-PCR)
- UniSTS:58196

D7S2781 (e-PCR)
- UniSTS:30293

L18426 (e-PCR)
- UniSTS:34648

D7S2077E (e-PCR)
- UniSTS:17517

D1S1423 (e-PCR)
- UniSTS:149619

WIAF-1620 (e-PCR)
- UniSTS:14708

G35510 (e-PCR)
- UniSTS:44150

STS-AA037744 (e-PCR)
- UniSTS:25765

RH92435 (e-PCR)
- UniSTS:90026

A008Y29 (e-PCR)
- UniSTS:70571

G59316 (e-PCR)
- UniSTS:136631

D5S1597E (e-PCR)
- UniSTS:151019

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cadherin binding	HDA more info	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

Component	Evidence Code	Pubs
located_in cytoplasmic side of plasma membrane	IMP Inferred from Mutant Phenotype more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
is_active_in endoplasmic reticulum membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info
located_in endoplasmic reticulum-plasma membrane contact site	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	HDA more info	PubMed
located_in organelle membrane contact site	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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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)

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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)

NM_001367773.1 → NP_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
NM_020728.3 → NP_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_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000007.14 Reference GRCh38.p14 Primary Assembly

Range

158730997..158829509 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_024446846.2 → XP_024302614.2 extended synaptotagmin-2 isoform X1
XM_047420659.1 → XP_047276615.1 extended synaptotagmin-2 isoform X5
XM_024446847.2 → XP_024302615.1 extended synaptotagmin-2 isoform X5

Conserved Domains (4) summary

cd04030
Location:603 → 728

C2C_KIAA1228; C2 domain third repeat present in uncharacterized human KIAA1228-like proteins

cd04050
Location:333 → 459

C2B_Synaptotagmin-like; C2 domain second repeat present in Synaptotagmin-like proteins

cd08391
Location:181 → 301

C2A_C2C_Synaptotagmin_like; C2 domain first and third repeat in Synaptotagmin-like proteins

cl27773
Location:1 → 166

SMP_LBD; Synaptotagmin-like mitochondrial-lipid-binding domain
XM_047420658.1 → XP_047276614.1 extended synaptotagmin-2 isoform X5
XM_047420660.1 → XP_047276616.1 extended synaptotagmin-2 isoform X3
XM_024446848.2 → XP_024302616.1 extended synaptotagmin-2 isoform X2

Conserved Domains (4) summary

cd04030
Location:562 → 687

C2C_KIAA1228; C2 domain third repeat present in uncharacterized human KIAA1228-like proteins

cd04050
Location:292 → 418

C2B_Synaptotagmin-like; C2 domain second repeat present in Synaptotagmin-like proteins

cd08391
Location:140 → 260

C2A_C2C_Synaptotagmin_like; C2 domain first and third repeat in Synaptotagmin-like proteins

cl27773
Location:16 → 125

SMP_LBD; Synaptotagmin-like mitochondrial-lipid-binding domain
XM_024446849.2 → XP_024302617.2 extended synaptotagmin-2 isoform X4