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  2. ESYT2 - extended synaptotagmin 2 Gene

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

ESYT2 Protein Structure

C2

C2: C2 domain (359 - 443)

C2

C2: C2 domain (516 - 583)

C2

C2: C2 domain (776 - 854)

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  • 893 a.a.
Protein Preferred Names Protein Names

extended synaptotagmin-2

chr2 synaptotagmin

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