SPTBN2

SPTBN2
Strwythurau
PDB	Human UniProt search: PDBe RCSB
Rhestr o ddynodwyr PDB
	1WJM, 1WYQ
Dynodwyr
Cyfenwau	SPTBN2, GTRAP41, SCA5, SCAR14, spectrin beta, non-erythrocytic 2
Dynodwyr allanol	OMIM: 604985 HomoloGene: 48482 GeneCards: SPTBN2
Patrwm RNA pattern
	Rhagor o gyfeiriadau
Ontoleg y genyn
Gweithrediad moleciwlaidd	• actin binding; • phospholipid binding; • structural constituent of cytoskeleton; • cadherin binding; • structural constituent of synapse;
Cydrannau o'r gell	• cell junction; • soma; • cell cortex; • apical plasma membrane; • Cytosgerbwd; • spectrin; • extracellular space; • cytoplasm; • cytosol; • parallel fiber to Purkinje cell synapse; • presynapse; • glutamatergic synapse; • postsynaptic spectrin-associated cytoskeleton;
Prosesau biolegol	• antigen processing and presentation of exogenous peptide antigen via MHC class II; • multicellular organism growth; • MAPK cascade; • axon guidance; • cerebellar Purkinje cell layer morphogenesis; • endoplasmic reticulum to Golgi vesicle-mediated transport; • adult behavior; • actin filament capping; • synapse assembly; • vesicle-mediated transport; • cytoskeleton organization; • regulation of molecular function; • postsynapse organization;
	Sources:Amigo / QuickGO
Orthologau
	6712
	n/a
	ENSG00000173898
	n/a
	O15020
	n/a
	NM_006946
	n/a
	NP_008877
	n/a
	Wicidata
Gweld/Golygu Bod dynol

Protein sy'n cael ei godio yn y corff dynol gan y genyn SPTBN2 yw SPTBN2 a elwir hefyd yn Spectrin beta, non-erythrocytic 2 (Saesneg). Segment o DNA yw'r genyn, sy'n amgodio ffwythiant arbennig. Mae'r genyn yma wedi ei leoli ar yr edefyn ôl o gromosom dynol 11, band 11q13.2.^[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 SPTBN2.

SCA5
SCAR14
GTRAP41

Llyfryddiaeth

"Dysfunction of the β2-spectrin-based pathway in human heart failure. ". Am J Physiol Heart Circ Physiol. 2016. PMID 27106045.
"Caspase-3/7-mediated Cleavage of β2-spectrin is Required for Acetaminophen-induced Liver Damage. ". Int J Biol Sci. 2016. PMID 26884715.
"Progressive SCAR14 with unclear speech, developmental delay, tremor, and behavioral problems caused by a homozygous deletion of the SPTBN2 pleckstrin homology domain. ". Am J Med Genet A. 2017. PMID 28636205.
"βIII Spectrin Is Necessary for Formation of the Constricted Neck of Dendritic Spines and Regulation of Synaptic Activity in Neurons. ". J Neurosci. 2017. PMID 28576936.
"A Novel Missense Mutation in the Spectrin Beta Nonerythrocytic 2 Gene Likely Associated with Spinocerebellar Ataxia Type 5.". Chin Med J (Engl). 2016. PMID 27748352.

Cyfeiriadau

[1] "Human PubMed Reference:".

[2] SPTBN2 - Cronfa NCBI

[1]

[2]