1. Gene
  2. SYTL2 - synaptotagmin like 2 Gene

SYTL2 - synaptotagmin like 2 Gene

中文名称:突触结合蛋白 2

种属: Homo sapiens

同用名: EXO4; SLP2; SLP2A; SGA72M; CHR11SYT; PPP1R151

基因 ID: 54843 | 基因类型: protein coding

关于 SYTL2

Cytogenetic location: 11q14.1 Genomic coordinates (GRCh38): 11:85,694,229-85,854,870 (from NCBI)

This gene has 29 transcripts (splice variants), 199 orthologues and 31 paralogues. Broad expression in stomach (RPKM 22.4), colon (RPKM 16.3) and 17 other tissues.

功能概要

该基因编码的蛋白质是一种突触结合蛋白 (SLP) ,属于包含 C2 结构域的蛋白质家族。该蛋白的 SLP 同源结构域 (SHD) 已显示可特异性结合 Ras 相关蛋白 Rab-27A (RAB27A) 的 GTP 结合形式。这种蛋白质在 RAB27A 依赖性囊泡运输中发挥作用,并控制细胞外周的黑素体分布。可变剪接导致编码不同异构体的多个转录变体。[RefSeq 提供,2009 年 6 月]

The protein encoded by this gene is a synaptotagmin-like protein (SLP) that belongs to a C2 domain-containing protein family. The SLP homology domain (SHD) of this protein has been shown to specifically bind the GTP-bound form of Ras-related protein Rab-27A (RAB27A). This protein plays a role in RAB27A-dependent vesicle trafficking and controls melanosome distribution in the cell periphery. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Jun 2009]

SYTL2 基因产物(47)

mRNA Protein Name
NM_001162951.4 NP_001156423.1 synaptotagmin-like protein 2 isoform g
NM_001162952.3 NP_001156424.1 synaptotagmin-like protein 2 isoform h
NM_001162953.4 NP_001156425.1 synaptotagmin-like protein 2 isoform i
NM_001289608.2 NP_001276537.1 synaptotagmin-like protein 2 isoform j
NM_001289609.2 NP_001276538.1 synaptotagmin-like protein 2 isoform k
NM_001289610.2 NP_001276539.1 synaptotagmin-like protein 2 isoform h
NM_001365826.2 NP_001352755.1 synaptotagmin-like protein 2 isoform l
NM_001365827.2 NP_001352756.1 synaptotagmin-like protein 2 isoform m
NM_001365828.2 NP_001352757.1 synaptotagmin-like protein 2 isoform b
NM_001365829.2 NP_001352758.1 synaptotagmin-like protein 2 isoform b
NM_001365830.2 NP_001352759.1 synaptotagmin-like protein 2 isoform b
NM_001365831.2 NP_001352760.1 synaptotagmin-like protein 2 isoform n
NM_001365832.2 NP_001352761.1 synaptotagmin-like protein 2 isoform o
NM_001365833.2 NP_001352762.1 synaptotagmin-like protein 2 isoform f
NM_001365834.2 NP_001352763.1 synaptotagmin-like protein 2 isoform p
NM_001365835.2 NP_001352764.1 synaptotagmin-like protein 2 isoform q
NM_001394447.1 NP_001381376.1 synaptotagmin-like protein 2 isoform r
NM_001394448.1 NP_001381377.1 synaptotagmin-like protein 2 isoform s
NM_001394449.1 NP_001381378.1 synaptotagmin-like protein 2 isoform s
NM_001394450.1 NP_001381379.1 synaptotagmin-like protein 2 isoform t
NM_001394451.1 NP_001381380.1 synaptotagmin-like protein 2 isoform u
NM_001394452.1 NP_001381381.1 synaptotagmin-like protein 2 isoform v
NM_001394453.1 NP_001381382.1 synaptotagmin-like protein 2 isoform w
NM_001394454.1 NP_001381383.1 synaptotagmin-like protein 2 isoform w
NM_001394455.1 NP_001381384.1 synaptotagmin-like protein 2 isoform x
NM_001394456.1 NP_001381385.1 synaptotagmin-like protein 2 isoform x
NM_001394457.1 NP_001381386.1 synaptotagmin-like protein 2 isoform g
NM_001394458.1 NP_001381387.1 synaptotagmin-like protein 2 isoform g
NM_001394459.1 NP_001381388.1 synaptotagmin-like protein 2 isoform g
NM_001394460.1 NP_001381389.1 synaptotagmin-like protein 2 isoform y
NM_001394461.1 NP_001381390.1 synaptotagmin-like protein 2 isoform z
NM_001394462.1 NP_001381391.1 synaptotagmin-like protein 2 isoform aa
NM_001394464.1 NP_001381393.1 synaptotagmin-like protein 2 isoform bb
NM_001394465.1 NP_001381394.1 synaptotagmin-like protein 2 isoform cc
NM_001394466.1 NP_001381395.1 synaptotagmin-like protein 2 isoform dd
NM_001394467.1 NP_001381396.1 synaptotagmin-like protein 2 isoform ee
NM_001394468.1 NP_001381397.1 synaptotagmin-like protein 2 isoform ff
NM_001394469.1 NP_001381398.1 synaptotagmin-like protein 2 isoform gg
NM_001394470.1 NP_001381399.1 synaptotagmin-like protein 2 isoform hh
NM_001394471.1 NP_001381400.1 synaptotagmin-like protein 2 isoform ii
NM_001394472.1 NP_001381401.1 synaptotagmin-like protein 2 isoform ii
NM_001394473.1 NP_001381402.1 synaptotagmin-like protein 2 isoform jj
NM_032943.5 NP_116561.1 synaptotagmin-like protein 2 isoform a
NM_206927.4 NP_996810.2 synaptotagmin-like protein 2 isoform c
NM_206928.4 NP_996811.2 synaptotagmin-like protein 2 isoform d
NM_206929.4 NP_996812.1 synaptotagmin-like protein 2 isoform b
NM_206930.4 NP_996813.1 synaptotagmin-like protein 2 isoform f
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables phosphatase binding IDA
IDA: 通过直接分析推断
19389623 GOA
enables phosphatidylinositol-4,5-bisphosphate binding IMP
IMP: 通过突变表型推断
17182843 GOA
enables phosphatidylserine binding IMP
IMP: 通过突变表型推断
17182843 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
15231748 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in exocytosis IDA
IDA: 通过直接分析推断
18812475 GOA
involved in vesicle docking involved in exocytosis IDA
IDA: 通过直接分析推断
18812475 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
18812475 GOA
located in exocytic vesicle IDA
IDA: 通过直接分析推断
18812475 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
17182843 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

SYTL2 蛋白结构

FYVE_2

FYVE_2: FYVE-type zinc finger (6 - 52)

C2

C2: C2 domain (645 - 733)

C2

C2: C2 domain (795 - 879)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 934 a.a.
蛋白主名 其他名称

synaptotagmin-like protein 2

breast cancer-associated antigen SGA-72M

SYTL2 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
SYTL2 Q9HCH5 PPP1CA Homo sapiens P62136
Pull Down
19389623
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Griscelli Syndrome

Chediak-Higashi-Like Syndrome

Griscelli-Prunieras Syndrome

Partial Albinism-Immunodeficiency Syndrome

Griscelli Disease

Gs

Hypopigmentation Immunodeficiency Disease

Partial Albinism With Immunodeficiency

Immunodeficiency Syndrome With Hypopigmentation

Hypopigmentation-Immunodeficiency Disease

Griscelli Syndrome, Type 2

Griscelli Syndrome Type 2

GS2

Griscelli Syndrome With Hemophagocytic Syndrome

Partial Albinism And Immunodeficiency Syndrome

Paid Syndrome

Hypopigmentation-Immunodeficiency With Or Without Neurologic Impairment Syndrome

Griscelli-Prunieras Syndrome Type 2

Griscelli-Pruniéras Syndrome Type 2

Griscelli Syndrome 2

Tinea Nigra

Microsporosis Nigra

Infection By Cladosporium Werneckii

Keratomycosis Nigricans

Tinea Palmaris Nigra

Keratomycosis Nigricans Palmaris

Piebald Trait

Piebaldism

PBT

Partial Albinism

Albinoidism, Oculocutaneous, Autosomal Dominant

Griscelli Syndrome, Type 3

Griscelli Syndrome Type 3

GS3

Griscelli-Prunieras Syndrome Type 3

Hypomelanosis With No Immunologic Or Neurologic Manifestations

Griscelli Syndrome 3

Hermansky-Pudlak Syndrome

Hps

Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells

Hermanski-Pudlak Syndrome

Hermansky Pudlak Syndrome

Platelet Storage Pool Deficiency

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta SYTL2 VGNC VGNC:78123
Felis catus SYTL2 VGNC VGNC:81930
Rattus norvegicus SYTL2 RGD RGD:1307647
Canis familiaris SYTL2 VGNC VGNC:52293
Mus musculus SYTL2 MGD MGI:1933366