ADA2

ADA2
Strwythurau PDB Human UniProt search: PDBe RCSB Rhestr o ddynodwyr PDB 3LGD, 3LGG
Dynodwyr
Cyfenwau	ADA2, ADGF, IDGFL, PAN, SNEDS, CECR1, cat eye syndrome chromosome region, candidate 1, adenosine deaminase 2, VAIHS
Dynodwyr allanol	OMIM: 607575 HomoloGene: 81852 GeneCards: ADA2
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • deaminase activity • zinc ion binding • adenosine receptor binding • adenosine deaminase activity • heparin binding • hydrolase activity • protein homodimerization activity • metal ion binding • proteoglycan binding • growth factor activity Cydrannau o'r gell • extracellular region • extracellular space • azurophil granule lumen • cytosol Prosesau biolegol • multicellular organism development • neutrophil degranulation • hypoxanthine salvage • inosine biosynthetic process • adenosine catabolic process • regulation of signaling receptor activity • GO:0072468 signal transduction Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	51816	n/a
Ensembl	ENSG00000093072	n/a
UniProt	Q9NZK5	n/a
RefSeq (mRNA)	NM_001282225 NM_001282226 NM_001282227 NM_001282228 NM_001282229 NM_017424 NM_177405	n/a
RefSeq (protein)	NP_001269154 NP_001269155 NP_001269156 NP_001269157 NP_001269158 NP_803124	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 ADA2 yw ADA2 a elwir hefyd yn Adenosine deaminase CECR1 ac Adenosine deaminase 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 22, band 22q11.1.

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 ADA2.

• PAN
• ADGF
• CECR1
• IDGFL
• SNEDS

Llyfryddiaeth

• "Monogenic polyarteritis: the lesson of ADA2 deficiency. ". Pediatr Rheumatol Online J. 2016. PMID 27609179.
• "Deficiency of Adenosine Deaminase Type 2: A Description of Phenotype and Genotype in Fifteen Cases. ". Arthritis Rheumatol. 2016. PMID 27059682.
• "Hematopoietic stem cell transplantation rescues the hematological, immunological, and vascular phenotype in DADA2. ". Blood. 2017. PMID 28974505.
• "CECR1-mediated cross talk between macrophages and vascular mural cells promotes neovascularization in malignant glioma. ". Oncogene. 2017. PMID 28534507.
• "Screening of 181 Patients With Antibody Deficiency for Deficiency of Adenosine Deaminase 2 Sheds New Light on the Disease in Adulthood.". Arthritis Rheumatol. 2017. PMID 28493328.