ESYT2 - extended synaptotagmin 2 Gene

Also Known as E-Syt2; FAM62B; CHR2SYT

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 57488

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
Molecular Function GO Annotation Evidence References 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 References 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

C2

C2: C2 domain (359 - 443)

C2

C2: C2 domain (516 - 583)

C2

C2: C2 domain (776 - 854)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 893 a.a.
Protein Preferred Names Protein Names

extended synaptotagmin-2

  • chr2 synaptotagmin

ESYT2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
ESYT2 A0FGR8 ESYT2 Homo sapiens A0FGR8 23791178
Intra
ESYT2 A0FGR8 ESYT2 Homo sapiens A0FGR8 24847877
Intra
ESYT2 A0FGR8 ESYT2 Homo sapiens A0FGR8 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

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
Others ESYT2 NCBI