full name
adenosine deaminase

synonyms
ADA, ENSG00000196839

HGNC
HGNC:186

Entrez Gene
Gene:100

ENSEMBL
ENSG00000196839

location
chr: 20
start: 43248160
stop: 43280376
strand: -

OMIM
OMIM:608958: ADA (Autosomal recessive inheritance,Somatic mosaicism)
OMIM:102700: Adenosine deaminase deficiency, partial
OMIM:102700: Severe combined immunodeficiency due to ADA deficiency

transcripts
ENST00000372874.4

pathways
C-MYB transcription factor network [NCBI:138073] [Pathway Interaction Database:cmyb_pathway] [PUBMED:17152050] [PUBMED:1944282] [PUBMED:7964503] [PUBMED:8598284] [PUBMED:15608679] [PUBMED:10619021] [PUBMED:2233716] [PUBMED:9244354] [PUBMED:8654374] [PUBMED:10590070] [PUBMED:17587615] [PUBMED:12424255] [PUBMED:1679531] [PUBMED:17077080] [PUBMED:8946914] [PUBMED:16055116] [PUBMED:11259163] [PUBMED:9659917] [PUBMED:9135152] [PUBMED:7721782] [PUBMED:11290610] [PUBMED:12244173] [PUBMED:11792321] [PUBMED:17242210] [PUBMED:10722757] [PUBMED:8264615] [PUBMED:15687240] [PUBMED:14761981] [PUBMED:10542314] [PUBMED:12673198] [PUBMED:11779867] [PUBMED:8756344] [PUBMED:11427482] [PUBMED:9809063] [PUBMED:10523863] [PUBMED:11094072] [PUBMED:15356292] [PUBMED:11781241] [PUBMED:15778089] [PUBMED:9096387] [PUBMED:17931383] [PUBMED:14576818] [PUBMED:11259170] [PUBMED:8491193] [PUBMED:11581319] [PUBMED:10644988] [PUBMED:7565722] [PUBMED:9490676] [PUBMED:9244356] [PUBMED:17641686] [PUBMED:16407849] [PUBMED:1594249] [PUBMED:17822556] [PUBMED:15867358] [PUBMED:17959653] [PUBMED:7509358] [PUBMED:11287612] [PUBMED:15082531] [PUBMED:10766162] [PUBMED:8756629] [PUBMED:11115410] [PUBMED:7684005] [PUBMED:9566892]
Metabolic pathways [NCBI:132956] [KEGG:hsa01100]
Metabolism [NCBI:1269956] [REACTOME:R-HSA-1430728]
Metabolism of nucleotides [NCBI:1270133] [REACTOME:R-HSA-15869] [PUBMED:17266529] [PUBMED:8283301] [PUBMED:20494131]
Primary immunodeficiency [NCBI:83125] [KEGG:hsa05340] [PUBMED:11941303] [PUBMED:18093537] [PUBMED:11058677] [PUBMED:17952897] [PUBMED:14699405] [PUBMED:15661024] [PUBMED:14647478] [PUBMED:17960151] [PUBMED:16261175]
Purine metabolism [NCBI:82944] [KEGG:hsa00230] [NCBI:1270134] [REACTOME:R-HSA-73847] [PUBMED:4620886] [PUBMED:10986234] [PUBMED:10601204]
Purine salvage [NCBI:1270136] [REACTOME:R-HSA-74217] [PUBMED:4620886]
adenine and adenosine salvage III [NCBI:547495] [BIOCYC:HUMAN_PWY-6609] [PUBMED:15812856]
adenosine nucleotides degradation [NCBI:142279] [BIOCYC:HUMAN_SALVADEHYPOX-PWY]
purine deoxyribonucleosides degradation [NCBI:1108783] [BIOCYC:HUMAN_PWY-7179-1] [PUBMED:12180982]
purine nucleotides degradation [NCBI:545362] [BIOCYC:HUMAN_PWY-6353]
purine ribonucleosides degradation to ribose-1-phosphate [NCBI:142432] [BIOCYC:HUMAN_PWY0-1296]
superpathway of purine nucleotide salvage [NCBI:907942] [BIOCYC:HUMAN_PWY66-409] [PUBMED:18712276] [PUBMED:18365665] [PUBMED:16176880] [PUBMED:23575936] [PUBMED:1301916]