TRAPPC2

TRAPPC2
Dynodwyr
Cyfenwau	TRAPPC2, MIP2A, SEDL, SEDT, TRAPPC2P1, TRS20, ZNF547L, hYP38334, trafficking protein particle complex 2, trafficking protein particle complex subunit 2
Dynodwyr allanol	OMIM: 300202 HomoloGene: 5436 GeneCards: TRAPPC2
Patrwm RNA pattern
	; ;
	Rhagor o gyfeiriadau
Ontoleg y genyn
Gweithrediad moleciwlaidd	• transmembrane transporter binding; • transcription factor binding; • GO:0001948, GO:0016582 protein binding;
Cydrannau o'r gell	• cytoplasm; • cytosol; • intracellular anatomical structure; • perinuclear region of cytoplasm; • Golgi membrane; • cnewyllyn cell; • nucleoplasm; • Reticwlwm endoplasmig; • endoplasmic reticulum-Golgi intermediate compartment; • intracellular membrane-bounded organelle; • TRAPP complex;
Prosesau biolegol	• skeletal system development; • GO:0009373 regulation of transcription, DNA-templated; • transcription, DNA-templated; • COPII vesicle coating; • vesicle-mediated transport; • endoplasmic reticulum to Golgi vesicle-mediated transport;
	Sources:Amigo / QuickGO
Orthologau
	6399
	n/a
	ENSG00000196459
	n/a
	P0DI81; P0DI82
	n/a
	NM_001011658; NM_001128835; NM_014563
	n/a
	NP_001011658; NP_001122307; NP_055378; NP_001011658.1; NP_055378.1
	n/a
	Wicidata
Gweld/Golygu Bod dynol

Protein sy'n cael ei godio yn y corff dynol gan y genyn TRAPPC2 yw TRAPPC2 a elwir hefyd yn Trafficking protein particle complex subunit 2B a Trafficking protein particle complex 2 (Saesneg). Segment o DNA yw'r genyn, sy'n amgodio ffwythiant arbennig. Mae'r genyn yma wedi ei leoli ar yr edefyn ôl Q61333, band Xp22.2.^[2]

Cyfystyron

Yn aml mae gan enynnau lawer o gyfystyron. Mae hyn oherwydd eu bod yn aml yn cael eu darganfod gan nifer o bobl mewn cyd-destunau gwahanol heb wybod mai'r un genynnau oeddyn nhw. Hefyd mae gan wahanol gymunedau gwyddonol safonau gwahanol ar gyfer enwi genynnau. Dyma restr o gyfystyron ar gyfer y genyn TRAPPC2.

SEDL
SEDT
MIP2A
TRS20
ZNF547L
hYP38334
TRAPPC2P1

Llyfryddiaeth

"A novel splicing mutation in the SEDL gene causes spondyloepiphyseal dysplasia tarda in a large Chinese pedigree. ". Clin Chim Acta. 2013. PMID 23876379.
"Whole exome sequencing and functional studies identify an intronic mutation in TRAPPC2 that causes SEDT. ". Clin Genet. 2014. PMID 23656395.
"[Mutation analysis of the TRAPPC2 gene in a Chinese family with X-linked spondyloepiphyseal dysplasia tarda]. ". Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015. PMID 26252088.
"[Analysis of SEDL gene mutation in a Chinese pedigree with X-linked spondyloepiphyseal dysplasia tarda]. ". Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2014. PMID 25297591.
"A novel nonsense mutation in the sedlin gene (SEDL) causes severe spondyloepiphyseal dysplasia tarda in a five-generation Chinese pedigree.". Genet Mol Res. 2014. PMID 24841781.

Cyfeiriadau

[1] "Human PubMed Reference:".

[2] TRAPPC2 - Cronfa NCBI

[1]

[2]