FLNB

FLNB
Strwythurau
PDB	Human UniProt search: PDBe RCSB
Rhestr o ddynodwyr PDB
	2DI8, 2DI9, 2DIA, 2DIB, 2DIC, 2DJ4, 2DLG, 2DMB, 2DMC, 2E9I, 2E9J, 2EE6, 2EE9, 2EEA, 2EEB, 2EEC, 2EED, 2WA5, 2WA6, 2WA7, 3FER, 4B7L
Dynodwyr
Cyfenwau	FLNB, ABP-278, ABP-280, AOI, FH1, FLN-B, FLN1L, LRS1, SCT, TABP, TAP, filamin B
Dynodwyr allanol	OMIM: 603381 HomoloGene: 37480 GeneCards: FLNB
Patrwm RNA pattern
	; ;
	Rhagor o gyfeiriadau
Ontoleg y genyn
Gweithrediad moleciwlaidd	• identical protein binding; • GO:0001948, GO:0016582 protein binding; • actin binding; • RNA binding; • cadherin binding;
Cydrannau o'r gell	• integral component of membrane; • Cytosgerbwd; • brush border; • actin cytoskeleton; • extracellular exosome; • stress fiber; • Cellbilen; • Z discdkac; • cytoplasm; • cell cortex; • focal adhesion; • GO:0005578 extracellular matrix; • cytosol; • cnewyllyn cell; • neuron projection; • soma; • phagocytic vesicle;
Prosesau biolegol	• muscle organ development; • skeletal muscle tissue development; • actin cytoskeleton organization; • epithelial cell morphogenesis; • multicellular organism development; • cell differentiation; • GO:0072468 signal transduction; • keratinocyte development; • cellular response to interferon-gamma;
	Sources:Amigo / QuickGO
Orthologau
	2317
	n/a
	ENSG00000136068
	n/a
	O75369
	n/a
	NM_001164317; NM_001164318; NM_001164319; NM_001457
	n/a
	NP_001157789; NP_001157790; NP_001157791; NP_001448
	n/a
	Wicidata
Gweld/Golygu Bod dynol

Protein sy'n cael ei godio yn y corff dynol gan y genyn FLNB yw FLNB a elwir hefyd yn Filamin B (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 3, band 3p14.3.^[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 FLNB.

AOI
FH1
SCT
TAP
LRS1
TABP
FLN-B
FLN1L
ABP-278
ABP-280

Llyfryddiaeth

"Filamin B Loss-of-Function Mutation in Dimerization Domain Causes Autosomal-Recessive Spondylocarpotarsal Synostosis Syndrome with Rib Anomalies. ". Hum Mutat. 2017. PMID 28145000.
"Differential expression of filamin B splice variants in giant cell tumor cells. ". Oncol Rep. 2016. PMID 27779699.
"F-actin clustering and cell dysmotility induced by the pathological W148R missense mutation of filamin B at the actin-binding domain. ". Am J Physiol Cell Physiol. 2016. PMID 26491051.
"Conditional testing of multiple variants associated with bone mineral density in the FLNB gene region suggests that they represent a single association signal. ". BMC Genet. 2013. PMID 24176111.
"Clinical report: Two patients with atelosteogenesis type I caused by missense mutations affecting the same FLNB residue.". Am J Med Genet A. 2013. PMID 23401428.

Cyfeiriadau

[1] "Human PubMed Reference:".

[2] FLNB - Cronfa NCBI

[1]

[2]