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TRAPPC2 - trafficking protein particle complex subunit 2 Gene

Also Known as SEDL; SEDT; MIP2A; TRS20; ZNF547L; hYP38334; TRAPPC2P1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 6399

About 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.

Summary

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 Products (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 Protein Structure

Sedlin_N

0
100
140 a.a.

Protein Preferred Names	Protein Names
trafficking protein particle complex subunit 2	sedlin

TRAPPC2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
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

Cross: Cross-species interaction Intra: Intraspecies interaction

TRAPPC2 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P83542	TRAPPC2 Antibody (YA3287)	WB	Human
HY-P83542A	TRAPPC2 Antibody (YA3287)(PBS only)	WB	Human

Related Diseases

Diseases	Alias
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

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

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14988	TRAPPC2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS14989	TRAPPC2L Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	TRAPPC2	MGD	MGI:1913476
Rattus norvegicus	TRAPPC2	RGD	RGD:1306925