CECR1

Cat eye syndrome critical region protein 1 is a protein that in humans is encoded by the CECR1 gene.^[3][4]

ADA2
Available structures PDB Human UniProt search: PDBe RCSB List of PDB id codes 3LGD, 3LGG
Identifiers
Aliases	ADA2, ADGF, IDGFL, PAN, SNEDS, CECR1, cat eye syndrome chromosome region, candidate 1, adenosine deaminase 2, VAIHS
External IDs	OMIM: 607575; HomoloGene: 81852; GeneCards: ADA2; OMA:ADA2 - orthologs
Gene location (Human) Chr. Chromosome 22 (human)[1] Band 22q11.1 Start 17,178,790 bp[1] End 17,258,235 bp[1]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in monocyte granulocyte bone marrow cells right uterine tube spleen blood lymph node thymus sperm gallbladder n/a More reference expression data BioGPS More reference expression data
Gene ontology Molecular function 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 Cellular component extracellular region extracellular space azurophil granule lumen cytosol Biological process multicellular organism development neutrophil degranulation hypoxanthine salvage inosine biosynthetic process adenosine catabolic process regulation of signaling receptor activity signal transduction Sources:Amigo / QuickGO
Orthologs Species Human Mouse 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 Location (UCSC) Chr 22: 17.18 – 17.26 Mb n/a PubMed search [2] n/a
Wikidata
View/Edit Human

This gene encodes a member of a subfamily of the adenosine deaminase protein family. The encoded protein may act as a growth factor and have adenosine deaminase activity. It may be responsible for some of the phenotypic features associated with cat eye syndrome. Two transcript variants encoding distinct isoforms have been identified for this gene.^[4]