TRAPPC2 - trafficking protein particle complex subunit 2 Gene

中文名称：运输蛋白颗粒复合物亚基 2

种属: Homo sapiens

同用名: SEDL; SEDT; MIP2A; TRS20; ZNF547L; hYP38334; TRAPPC2P1

基因 ID: 6399 | 基因类型: protein coding

关于 TRAPPC2

Cytogenetic location: Xp22.2 Genomic coordinates (GRCh38): X:13,712,245-13,734,620 (from NCBI)

This gene has 10 transcripts (splice variants), 138 orthologues, 2 paralogues and is associated with 3 phenotypes. Ubiquitous expression in lymph node (RPKM 4.2), brain (RPKM 3.5) and 25 other tissues.

功能概要

由该基因编码的蛋白质被认为是参与内质网-高尔基体转运囊泡与其受体室的靶向和融合的大型多亚基复合体的一部分。此外，编码的蛋白质可以结合 c-Myc 启动子结合蛋白 1 并阻断其转录抑制能力。该基因的突变是导致脊椎骨骺发育不良迟发症 (SEDT) 的原因。该基因的加工假基因位于 19 号染色体上，其他假基因位于 8 号染色体和 Y 染色体上。已发现该基因的可变剪接转录本变体。[RefSeq 提供，2010 年 3 月]

The protein encoded by this gene is thought to be part of a large multi-subunit complex involved in the targeting and fusion of endoplasmic reticulum-to-Golgi transport vesicles with their acceptor compartment. In addition, the encoded protein can bind c-Myc promoter-binding protein 1 and block its transcriptional repression capability. Mutations in this gene are a cause of spondyloepiphyseal dysplasia tarda (SEDT). A processed pseudogene of this gene is located on chromosome 19, and other pseudogenes are found on chromosomes 8 and Y. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2010]

TRAPPC2 基因产物(3)

mRNA	Protein	Name
NM_001011658.4	NP_001011658.1	trafficking protein particle complex subunit 2 isoform 1
NM_001128835.3	NP_001122307.2	trafficking protein particle complex subunit 2 isoform 2
NM_014563.6	NP_055378.1	trafficking protein particle complex subunit 2 isoform 1

TRAPPC2 蛋白结构

Sedlin_N

0
100
140 a.a.

蛋白主名

其他名称

trafficking protein particle complex subunit 2

sedlin

TRAPPC2 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
Intra	TRAPPC2	P0DI81	EPS15L1	Homo sapiens	Q9UBC2	Y2H Prey Pooling	25416956
Intra	TRAPPC2	P0DI81	TRIM42	Homo sapiens	Q8IWZ5	Validated Y2H	25416956
Intra	TRAPPC2	P0DI81	TRIM42	Homo sapiens	Q8IWZ5	Y2H Array	25416956
Intra	TRAPPC2	P0DI81	KCTD1	Homo sapiens	Q719H9	Y2H Array	25416956

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

Spondyloepiphyseal Dysplasia Tarda, X-Linked

Spondyloepiphyseal Dysplasia Tarda	X-Linked Spondyloepiphyseal Dysplasia Tarda
SEDT	Sed Tarda, X-Linked
Spondyloepiphyseal Dysplasia, Late	Spondyloepiphyseal Dysplasia Tarda X-Linked
Sed	X Linked Spondyloepiphyseal Dysplasia Tarda
X-Linked Spondyloepiphyseal Dysplasia	Late Onset Spondyloepiphyseal Dysplasia
Sed Tarda	X-Linked Sed
X-Linked Sedt	Dysplasia, Spondyloepiphyseal, Tarda
Spondyloepiphyseal Dysplasia

Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations

Spondyloepiphyseal Dysplasia	Chst3-Related Skeletal Dysplasia
Humerospinal Dysostosis	Spondyloepiphyseal Dysplasia, Omani Type
Chondrodysplasia With Multiple Dislocations	SEDCJD
Hsd	Cdmd
Humero-Spinal Dysostosis	Kozlowski Celermajer Tink Syndrome
Chondrodysplasia With Congenital Joint Dislocations, Chst3 Type	Larsen Syndrome, Recessive Type
Humero-Spinal Dysostosis With Congenital Heart Disease	Omani Type
Sed	Chst3 Deficiency
Chst3-Related Dysplasia	Recessive Larsen Syndrome
Autosomal Recessive Larsen Syndrome	Sed With Luxations, Chst3 Type
Sed, Omani Type	Sdcd, Chst3 Type
Spondyloepiphyseal Dysplasia With Congenital Joint Dyslocations, Chst3 Type	Sed Omani Type
Spondyloepiphyseal Dysplasia Omani Type	Larsen Syndrome, Autosomal Recessive
Mucopolysaccharidosis Iv	Spondyloepiphyseal Dysplasia, Congenita

Connective Tissue Disease

Connective Tissue Diseases	Connective Tissue Disorder
Abnormality Of Connective Tissue	Disorder Of Connective Tissue
Connective Tissue Disorders

Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type

Spondyloepimetaphyseal Dysplasia-Short Limb-Abnormal Calcification Syndrome	Smed-Sl
Smed-Sl/Ac	Smed Short Limb-Abnormal Calcification Type
Smed Short Limb-Hand Type	Spondylometaepiphyseal Dysplasia Short Limb-Hand Type
Smed, Type Ii	Smed Type 2
Spondylometaepiphyseal Dysplasia Short Limb-Abnormal Calcification Type	Smed, Short Limb-Hand Type
Spondylometaepiphyseal Dysplasia, Short Limb-Abnormal Calcification Type	Smed, Short Limb-Abnormal Calcification Type
Spondyloepimetaphyseal Dysplasia - Short Limb - Abnormal Calcification	Spondyloepimetaphyseal Dysplasia, Short Limb-Hand Type
SEMD-SL	Smed Type Ii
Dysplasia, Spondylometaepiphyseal, Short Limb-Hand Type

Osteochondrodysplasia

Skeletal Dysplasia	Chondrodystrophy
Congenital Anomaly Of Cartilage	Osteochondrodysplasias
Cartilage Development Disorder	Osteochondrodysplasia Syndrome
Dysplasia, Skeletal	Mucopolysaccharidosis Iv

Dyggve-Melchior-Clausen Disease

Dyggve-Melchior-Clausen Syndrome	DMC
Dmc Disease	Pseudo-Morquio Disease Type I
Dmc Syndrome

Bone Disease

Bone Diseases	Skeletal Disease
Skeletal Disorder	Disorder Of Skeletal System

Craniolenticulosutural Dysplasia

Boyadjiev-Jabs Syndrome	CLSD
Cranio-Lenticulo-Sutural Dysplasia	Cranio-Lenticulo-Sutural Dysplasia, Clsd

Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans

SADDAN	Saddan Dysplasia
Severe Achondroplasia With Developmental Delay And Acanthosis Nigricans	Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Ssb Syndrome	Skeleton Skin Brain Syndrome
Skeleton-Skin-Brain Syndrome	Achondroplasia

Bone Development Disease

Spondyloepiphyseal Dysplasia Congenita

SEDC	Sed Congenita
Spondyloepiphyseal Dysplasia, Congenital Type	Late Spondyloepiphyseal Dysplasia
Sed, Congenital Type	Congenital Spondyloepiphyseal Dysplasia
Spranger-Wiedemann Disease	Spondyloepiphyseal Dysplasia Congenital Type
Dysplasia, Spondyloepiphyseal, Congenita	Spondyloepiphyseal Dysplasia, Congenita
Spondyloepiphyseal Dysplasia Tarda, X-Linked

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS14988	TRAPPC2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否
HY-RS14989	TRAPPC2L Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Mus musculus	TRAPPC2	MGD	MGI:1913476
Rattus norvegicus	TRAPPC2	RGD	RGD:1306925

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