TAB2

TAB2
Strwythurau
PDB	Human UniProt search: PDBe RCSB
Rhestr o ddynodwyr PDB
	2DAE, 2WWZ, 2WX0, 2WX1
Dynodwyr
Cyfenwau	TAB2, CHTD2, MAP3K7IP2, TAB-2, TGF-beta activated kinase 1/MAP3K7 binding protein 2, TGF-beta activated kinase 1 (MAP3K7) binding protein 2
Dynodwyr allanol	OMIM: 605101 HomoloGene: 9019 GeneCards: TAB2
Patrwm RNA pattern
	; ;
	Rhagor o gyfeiriadau
Ontoleg y genyn
Gweithrediad moleciwlaidd	• metal ion binding; • K63-linked polyubiquitin modification-dependent protein binding; • GO:0001948, GO:0016582 protein binding;
Cydrannau o'r gell	• endosome membrane; • cytoplasm; • bilen; • Cellbilen; • cytosol; • nucleoplasm;
Prosesau biolegol	• JNK cascade; • positive regulation of NF-kappaB transcription factor activity; • positive regulation of protein kinase activity; • Fc-epsilon receptor signaling pathway; • heart development; • nucleotide-binding oligomerization domain containing signaling pathway; • MyD88-dependent toll-like receptor signaling pathway; • stimulatory C-type lectin receptor signaling pathway; • I-kappaB kinase/NF-kappaB signaling; • negative regulation of autophagy; • positive regulation of I-kappaB kinase/NF-kappaB signaling; • T cell receptor signaling pathway; • interleukin-1-mediated signaling pathway; • response to lipopolysaccharide;
	Sources:Amigo / QuickGO
Orthologau
	23118
	n/a
	ENSG00000055208
	n/a
	Q9NYJ8
	n/a
	NM_001292034; NM_001292035; NM_015093; NM_145342; NM_001369506
	n/a
	NP_001278963; NP_001278964; NP_055908; NP_001356435
	n/a
	Wicidata
Gweld/Golygu Bod dynol

Protein sy'n cael ei godio yn y corff dynol gan y genyn TAB2 yw TAB2 a elwir hefyd yn TGF-beta-activated kinase 1 and MAP3K7-binding protein 2 a TGF-beta activated kinase 1/MAP3K7 binding protein 2 (Saesneg). Segment o DNA yw'r genyn, sy'n amgodio ffwythiant arbennig. Mae'r genyn yma wedi ei leoli ar yr edefyn blaen o gromosom dynol 6, band 6q25.1.^[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 TAB2.

CHTD2
TAB-2
MAP3K7IP2

Llyfryddiaeth

"HTLV-1 Tax-mediated TAK1 activation involves TAB2 adapter protein. ". Biochem Biophys Res Commun. 2008. PMID 17986383.
"A 212-kb region on chromosome 6q25 containing the TAB2 gene is associated with susceptibility to type 1 diabetes. ". Diabetes. 2004. PMID 15220215.
"Whole Exome Sequencing, Familial Genomic Triangulation, and Systems Biology Converge to Identify a Novel Nonsense Mutation in TAB2-encoded TGF-beta Activated Kinase 1 in a Child with Polyvalvular Syndrome. ". Congenit Heart Dis. 2016. PMID 27452334.
"Familial TAB2 microdeletion and congenital heart defects including unusual valve dysplasia and tetralogy of fallot. ". Am J Med Genet A. 2015. PMID 26139517.
"A de novo 0.63â€‰Mb 6q25.1 deletion associated with growth failure, congenital heart defect, underdeveloped cerebellar vermis, abnormal cutaneous elasticity and joint laxity.". Am J Med Genet A. 2015. PMID 25940952.

Cyfeiriadau

[1] "Human PubMed Reference:".

[2] TAB2 - Cronfa NCBI

[1]

[2]