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FLASH GENE

Symbol

TRAPPC2

contributors: mct/npt - updated : 31-01-2017

HGNC name	trafficking protein particle complex 2
HGNC id	23068

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	SEDL spondyloepiphyseal dysplasia, late
Location	Xp22.2      Physical location : 13.730.360 - 13.752.754
Synonym name	sedlin
	spondyloepiphyseal dysplasia, late
	MBP-1-interacting protein 2A
Synonym symbol(s)	SEDT, SEDL, TRS20, MIP-2A, ZNF547L, hYP38334, MIP2A, SEDTP1

DNA

TYPE	functioning gene
SPECIAL FEATURE	opposite orientation, escaping inactivation, tail to tail
text	tail to tail and distal to CXorf5
STRUCTURE	22.38 kb     5 Exon(s)

motif	repetitive sequence   ALU
text structure	four alu sequences in the 3' utr
	non-canonical splice-site

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

text	two transcript variants encoding the same protein

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001011658 5 splicing 2857 NP_001011658 16 140 - 2001 11595175 NM_014563 5 splicing 2715 NP_055378 16 140 - 2001 11595175 differing in the 5' UTR compared to variant 1 NM_001128835 4 - 1600 NP_001122307 - 90 - 2001 11595175

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart       moderately   vessel       moderately Digestive liver         Lymphoid/Immune lymph node       moderately   thymus       highly Reproductive female system uterus cervix   highly Urinary kidney       moderately

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective         Muscular striatum skeletal

cells

System Cell Pubmed Species Stage Rna symbol   digestive

cell lineage	lymphoblasts
cell lines
fluid/secretion

at STAGE

physiological period

fetal, pregnancy

Text	cartilage, pancreas

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

seven SEDLP

HOMOLOGY

interspecies

homolog to murine Trappc2 (97.1 pc)

Homologene

FAMILY	TRAPP small subunits family
	sedlin subfamily

CATEGORY

regulatory , transport

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,cytoplasm,organelle,Golgi
	intracellular,cytoplasm,cytosolic
	intracellular,nucleus,nucleoplasm
text	perinuclear structure partly overlapping with the intermediate ER-Golgi compartment (ERGIC)
	be present in both soluble
	cytoplasmic fraction and in the membrane fraction (Choi 2009)

basic FUNCTION	playing a putative role in endoplamsic reticulum (ER) to Golgi vesicular transport
	preventing MBP1-mediated transcriptional repression
	antagonizing MBP1-mediated cell death
	nucleus-localized TRAPPC2 may play a role in regulation of transcriptional activities of the MRG family of transcription factors via binding to MRFAP1
	joint action of MIA3 and TRAPPC2 sustained the ER export of Procollagen (PC), and its derangement may explain the defective chondrogenesis underlying SEDL

CELLULAR PROCESS	cell life, antiapoptosis
	nucleotide, transcription, regulation

PHYSIOLOGICAL PROCESS

development , cellular trafficking transport , ossification

text	skeletal development

PATHWAY

metabolism

signaling

a component

part of the multisubunit TRAPP (transport protein particle) complex

INTERACTION

DNA

RNA

small molecule

protein	TRAPPC2 is physically associated with protein associated with MRG 14 kDa (MRFAP1), a nuclear protein that interacts with the transcription factor MORF4L1
	interaction with the transcription factors ENO1, PITX1 and SF1
	associates with the RAB8A N-terminal domain and its subunits colocalize with centrosomal RAB8A and are required for RAB8A preciliary targeting and ciliogenesis
	MIA3 recruited TRAPPC2, a TRAPP component and TRAPPC2 was required for the ER export of Procollagen (PC)
	bound and promoted efficient cycling of SAR1A, a guanosine triphosphatase that can constrict membranes, and thus allowed nascent carriers to grow and incorporate PC prefibrils
	interact with HIVEP1, a repressor of the MYC promoter (pMID: 24098805)

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

SEDL

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed cancer     simultaneous targeting of NCAPG2 and TRAPPC2 is a promising strategy for the development of antitumor drugs as a treatment for intractable tumours

ANIMAL & CELL MODELS