Gene: ADA2

Alternate names for this Gene: ADGF|CECR1|IDGFL|PAN|SNEDS|VAIHS

Gene Summary: This gene encodes a member of a subfamily of the adenosine deaminase protein family. The encoded protein is one of two adenosine deaminases found in humans, which regulate levels of the signaling molecule, adenosine. The encoded protein is secreted from monocytes undergoing differentiation and may regulate cell proliferation and differentiation. This gene may be responsible for some of the phenotypic features associated with cat eye syndrome. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 22

Location in Chromosome : 22q11.1

Description of this Gene: adenosine deaminase 2

Type of Gene: protein-coding

rs2041144 in ADA2 gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.

PMID 30072576 2018 Co-regulatory networks of human serum proteins link genetics to disease.

rs5747035 in ADA2 gene and Memory performance PMID 25648963 2015 Genome-wide studies of verbal declarative memory in nondemented older people: the Cohorts for Heart and Aging Research in Genomic Epidemiology consortium.

rs139750129 in ADA2 gene and POLYARTERITIS NODOSA, CHILDHOOD-ONSET PMID 24552284 2014 Early-onset stroke and vasculopathy associated with mutations in ADA2.

PMID 24552285 2014 Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy.

PMID 28493328 2017 Screening of 181 Patients With Antibody Deficiency for Deficiency of Adenosine Deaminase 2 Sheds New Light on the Disease in Adulthood.

PMID 27059682 2016 Deficiency of Adenosine Deaminase Type 2: A Description of Phenotype and Genotype in Fifteen Cases.

PMID 28983775 2017 Deficiency of Adenosine Deaminase 2 (DADA2), an Inherited Cause of Polyarteritis Nodosa and a Mimic of Other Systemic Rheumatologic Disorders.

PMID 29951947 2018 Deficiency of Adenosine Deaminase 2 (DADA2): Updates on the Phenotype, Genetics, Pathogenesis, and Treatment.

PMID 27252897 2016 ADA2 deficiency: case report of a new phenotype and novel mutation in two sisters.

PMID 28522451 2017 ADA2 deficiency (DADA2) as an unrecognised cause of early onset polyarteritis nodosa and stroke: a multicentre national study.

PMID 26867732 2016 This case series revealed large phenotypic variability in patients with ADA2 deficiency though they were homozygous for the same R169Q mutation inCECR1 Disease modifiers, including epigenetic and environmental factors, thus seem important in determining the phenotype.

PMID 25888558 2015 Unexplained early-onset lacunar stroke and inflammatory skin lesions: Consider ADA2 deficiency.