MCFD2

MCFD2
Strwythurau PDB Human UniProt search: PDBe RCSB Rhestr o ddynodwyr PDB 2VRG, 3A4U, 3LCP, 3WHT, 3WHU, 3WNX, 4YGE, 4YGD, 4YGB, 4YGC
Dynodwyr
Cyfenwau	MCFD2, F5F8D, F5F8D2, LMAN1IP, SDNSF, multiple coagulation factor deficiency 2, multiple coagulation factor deficiency 2, ER cargo receptor complex subunit
Dynodwyr allanol	OMIM: 607788 HomoloGene: 44552 GeneCards: MCFD2
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • calcium ion binding • metal ion binding • GO:0001948, GO:0016582 protein binding Cydrannau o'r gell • ER to Golgi transport vesicle membrane • Golgi apparatus • endoplasmic reticulum membrane • Reticwlwm endoplasmig • endoplasmic reticulum-Golgi intermediate compartment membrane • endoplasmic reticulum-Golgi intermediate compartment • Golgi membrane Prosesau biolegol • protein transport • endoplasmic reticulum to Golgi vesicle-mediated transport • COPII vesicle coating • vesicle-mediated transport • protein N-linked glycosylation via asparagine Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	90411	n/a
Ensembl	ENSG00000180398	n/a
UniProt	Q8NI22	n/a
RefSeq (mRNA)	NM_139279 NM_001171506 NM_001171507 NM_001171508 NM_001171509 NM_001171510 NM_001171511	n/a
RefSeq (protein)	NP_001164977 NP_001164978 NP_001164979 NP_001164980 NP_001164981 NP_001164982 NP_644808	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 MCFD2 yw MCFD2 a elwir hefyd yn Multiple coagulation factor deficiency 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 2, band 2p21.

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 MCFD2.

• F5F8D
• SDNSF
• F5F8D2
• LMAN1IP

Llyfryddiaeth

• "A novel missense mutation causing abnormal LMAN1 in a Japanese patient with combined deficiency of factor V and factor VIII. ". Am J Hematol. 2009. PMID 19787799.
• "The first case of combined coagulation factor V and coagulation factor VIII deficiency in Poland due to a novel p.Tyr135Asn missense mutation in the MCFD2 gene. ". Blood Coagul Fibrinolysis. 2008. PMID 18685427.
• "Combined FV and FVIII deficiency (F5F8D) in a Chinese family with a novel missense mutation in MCFD2 gene. ". Haemophilia. 2014. PMID 25354775.
• "Identification of a novel mutation in the MCFD2 gene in a Tunisian family with combined factor V and VIII deficiency. ". Tunis Med. 2012. PMID 22535353.
• "Structural analysis of two novel mutations in MCFD2 gene causing combined coagulation factors V and VIII deficiency.". Blood Cells Mol Dis. 2010. PMID 20004600.