ADA2

Protein identityUniProt · HPA

UniProt accession

Q9NZK5

Gene

ADA2

Ensembl

ENSG00000093072

Chromosome

22

Canonical length

511 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins, Predicted secreted proteins

Secretome location

Secreted to blood

Quaternary structure

Homodimer

OverviewNCBI Gene

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. [provided by RefSeq, Aug 2013]

Canonical amino-acid sequenceUniProt

511 residues, UniProt reviewed canonical sequence.

>Q9NZK5|ADA2
     1  MLVDGPSERP ALCFLLLAVA MSFFGSALSI DETRAHLLLK EKMMRLGGRL VLNTKEELAN
    61  ERLMTLKIAE MKEAMRTLIF PPSMHFFQAK HLIERSQVFN ILRMMPKGAA LHLHDIGIVT
   121  MDWLVRNVTY RPHCHICFTP RGIMQFRFAH PTPRPSEKCS KWILLEDYRK RVQNVTEFDD
   181  SLLRNFTLVT QHPEVIYTNQ NVVWSKFETI FFTISGLIHY APVFRDYVFR SMQEFYEDNV
   241  LYMEIRARLL PVYELSGEHH DEEWSVKTYQ EVAQKFVETH PEFIGIKIIY SDHRSKDVAV
   301  IAESIRMAMG LRIKFPTVVA GFDLVGHEDT GHSLHDYKEA LMIPAKDGVK LPYFFHAGET
   361  DWQGTSIDRN ILDALMLNTT RIGHGFALSK HPAVRTYSWK KDIPIEVCPI SNQVLKLVSD
   421  LRNHPVATLM ATGHPMVISS DDPAMFGAKG LSYDFYEVFM GIGGMKADLR TLKQLAMNSI
   481  KYSTLLESEK NTFMEIWKKR WDKFIADVAT K

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ADA2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Secreted

Secreted

Yes

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.24

Highest tissue expression

106 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ADA2.

Disease | AllUniProt

Conditions ADA2 is implicated in, by any mechanism.

• Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome (VAIHS) MIM:615688
• Sneddon syndrome (SNDNS) MIM:182410

Disease | GeneticClinVar

91 pathogenic / likely-pathogenic of 613 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Deficiency of adenosine deaminase 2
• Sneddon syndrome
• ADA2-related disorder
• Autoinflammatory syndrome
• Inherited Immunodeficiency Diseases

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.07

gnomAD pLI

0

DepMap mean gene effect

-0.04

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• adenosine catabolic process
• inosine biosynthetic process

Molecular functions

• adenosine deaminase activity
• adenosine receptor binding
• growth factor activity
• heparin binding
• protein homodimerization activity
• proteoglycan binding
• zinc ion binding

Cellular components

• azurophil granule lumen
• extracellular region
• extracellular space

Protein domainsUniProt · Pfam · InterPro

• Adenosine deaminase domain
• Adenosine/adenine deaminase
• Metal-dependent hydrolase
• Adenosine deaminase
• Adenosine deaminase-related growth factor
• Adenosine/AMP deaminase N-terminal
• Adenosine/AMP deaminase N-terminal

KeywordsUniProt

• Disulfide bond
• Glycoprotein
• Heparin-binding
• Hydrolase
• Metal-binding
• Secreted
• Signal
• Zinc

InteractionsUniProt · HPA

Protein binding partners of ADA2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• KAT2A