ESYT2 - extended synaptotagmin 2 Gene

Homo sapiens

Also known as E-Syt2; FAM62B; CHR2SYT

Gene ID: 57488 | Gene type: protein coding

About ESYT2

Cytogenetic location: 7q36.3 Genomic coordinates (GRCh38): 7:158,730,997-158,829,509 (from NCBI)

This gene has 6 transcripts (splice variants), 286 orthologues and 2 paralogues. Ubiquitous expression in fat (RPKM 29.7), thyroid (RPKM 27.6) and 25 other tissues.

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]

ESYT2 Products(2)

mRNA	Protein	Name
NM_001367773.1	NP_001354702.1	extended synaptotagmin-2 isoform 1
NM_020728.3	NP_065779.2	extended synaptotagmin-2 isoform 2

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables calcium ion binding	IDA IDA: Inferred from direct assay	24373768	GOA
enables calcium-dependent phospholipid binding	IDA IDA: Inferred from direct assay	17360437	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	23791178	GOA
enables phosphatidylcholine binding	IDA IDA: Inferred from direct assay	24847877	GOA
enables phosphatidylethanolamine binding	IDA IDA: Inferred from direct assay	24847877	GOA
enables phosphatidylinositol binding	IDA IDA: Inferred from direct assay	24847877	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	22119785	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytoplasmic side of plasma membrane	IMP IMP: Inferred from mutant phenotype	23791178	GOA
located in endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	23791178	GOA
located in endoplasmic reticulum-plasma membrane contact site	IDA IDA: Inferred from direct assay	27044890	GOA
located in organelle membrane contact site	IDA IDA: Inferred from direct assay	23791178	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	17360437	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ESYT2 Protein Structure

0
200
400
600
800
893 a.a.

Protein Preferred Names

Protein Names

extended synaptotagmin-2

chr2 synaptotagmin

ESYT2 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	ESYT2	A0FGR8	ESYT2	Homo sapiens	A0FGR8	Anti Tag CoIP	23791178
Intra	ESYT2	A0FGR8	ESYT2	Homo sapiens	A0FGR8	Ion Mobility Mass Spec	24847877
Intra	ESYT2	A0FGR8	ESYT2	Homo sapiens	A0FGR8	X-Ray Diffraction	24847877

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly

SRTD8	Srps6
Short Rib-Polydactyly Syndrome Type Vi	Short Rib-Polydactyly Syndrome, Type Vi
Srps Type Vi

B-Lymphoblastic Leukemia/Lymphoma Mll Rearranged

B-Lymphoblastic Leukemia/Lymphoma Kmt2a Rearranged	B Lymphoblastic Leukemia/Lymphoma With T
Mll Rearranged	B-All Kmt2a Rearranged
B-Lymphoblastic Leukemia/Lymphoma With T	Kmt2a Rearranged

Duane Retraction Syndrome

Stilling-Turk-Duane Syndrome	Duane'S Syndrome
Duane Syndrome	Isolated Duane Retraction Syndrome
Co-Contractive Retraction Syndrome	Duane Anomaly, Isolated
Ocular Retraction Syndrome	Drs
Durs

Asphyxiating Thoracic Dystrophy

Jeune Thoracic Dystrophy	Jeune Syndrome
Asphyxiating Thoracic Dysplasia	Short-Rib Thoracic Dysplasia With Or Without Polydactyly
Thoracic Pelvic Phalangeal Dystrophy	Asphyxiating Thoracic Chondrodystrophy
Atd	Chondroectodermal Dysplasia-Like Syndrome
Infantile Thoracic Dystrophy	Jeune Thoracic Dysplasia
Thoracic Asphyxiant Dystrophy	Thoracic-Pelvic-Phalangeal Dystrophy
Short-Rib Thoracic Dysplasia Without Polydactyly	Asphyxiating Thoracic Dystrophy Of The Newborn
Asphyxiating Thorax Dystrophy

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04549	ESYT2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	ESYT2	VGNC	VGNC:72316
Felis catus	ESYT2	VGNC	VGNC:61972
Bos taurus	ESYT2	VGNC	VGNC:28614
Rattus norvegicus	ESYT2	RGD	RGD:1565705
Canis familiaris	ESYT2	VGNC	VGNC:40484
Mus musculus	ESYT2	MGD	MGI:1261845

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