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 • neuronal cell body • 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
Species	Bod dynol	Llygoden
Entrez	6712	n/a
Ensembl	ENSG00000173898	n/a
UniProt	O15020	n/a
RefSeq (mRNA)	NM_006946	n/a
RefSeq (protein)	NP_008877	n/a
Lleoliad (UCSC)	n/a	n/a
PubMed search		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.

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.