SHANK3

Protein sy'n cael ei godio yn y corff dynol gan y genyn SHANK3 yw SHANK3 a elwir hefyd yn SH3 and multiple ankyrin repeat domains 3 (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 22, band 22q13.33.

SHANK3
Dynodwyr
Cyfenwau	SHANK3, DEL22q13.3, PROSAP2, PSAP2, SCZD15, SPANK-2, SH3 and multiple ankyrin repeat domains 3
Dynodwyr allanol	OMIM: 606230 HomoloGene: 75163 GeneCards: SHANK3
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • SH3 domain binding • scaffold protein binding • zinc ion binding • protein C-terminus binding • GO:0001948, GO:0016582 protein binding • synaptic receptor adaptor activity • actin binding • ionotropic glutamate receptor binding • protein self-association • signaling receptor complex adaptor activity Cydrannau o'r gell • cytoplasm • postsynaptic membrane • cell projection • bilen • Cellbilen • dendritic spine • synapse • cell junction • ciliary membrane • neuron spine • neuron projection • GO:0097483, GO:0097481 postsynaptic density • cytosol • extrinsic component of cytoplasmic side of plasma membrane • ionotropic glutamate receptor complex • dendrite Prosesau biolegol • positive regulation of long-term synaptic potentiation • positive regulation of synapse structural plasticity • NMDA glutamate receptor clustering • regulation of long-term synaptic depression • positive regulation of glutamate receptor signaling pathway • postsynaptic density assembly • negative regulation of actin filament bundle assembly • negative regulation of cell volume • positive regulation of AMPA receptor activity • Cof • learning • positive regulation of dendritic spine development • MAPK cascade • striatal medium spiny neuron differentiation • AMPA glutamate receptor clustering • dendritic spine morphogenesis • vocal learning • vocalization behavior • adult behavior • positive regulation of synaptic transmission, glutamatergic • positive regulation of long-term neuronal synaptic plasticity • regulation of long-term synaptic potentiation • positive regulation of excitatory postsynaptic potential • social behavior • guanylate kinase-associated protein clustering • synapse assembly • regulation of dendritic spine morphogenesis • brain morphogenesis • axon guidance • synaptic assembly at neuromuscular junction • long-term potentiation • regulation of AMPA receptor activity Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	85358	n/a
Ensembl	ENSG00000251322	n/a
UniProt	Q9BYB0	n/a
RefSeq (mRNA)	NM_001080420 NM_001372044	n/a
RefSeq (protein)	NP_277052	n/a
Lleoliad (UCSC)	n/a	n/a
PubMed search		n/a
Wicidata
Gweld/Golygu Bod dynol

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 SHANK3.

• PSAP2
• SCZD15
• PROSAP2
• SPANK-2
• DEL22q13.3

Llyfryddiaeth

• "De novo SHANK3 mutation causes Rett syndrome-like phenotype in a female patient. ". Am J Med Genet A. 2015. PMID 25931020.
• "Whole genome sequencing reveals a de novo SHANK3 mutation in familial autism spectrum disorder. ". PLoS One. 2015. PMID 25646853.
• "The spectrum of epilepsy and electroencephalographic abnormalities due to SHANK3 loss-of-function mutations. ". Epilepsia. 2016. PMID 27554343.
• "Copy number variation analysis in adults with catatonia confirms haploinsufficiency of SHANK3 as a predisposing factor. ". Eur J Med Genet. 2016. PMID 27519580.
• "Evaluating the association between the SHANK3 gene and bipolar disorder.". Psychiatry Res. 2016. PMID 27512916.