ADA2
(
NM_001282225.2
)
sequence variants
(PAN, ADGF, CECR1, IDGFL, SNEDS)
Editor(s):
Ivona AKSENTIJEVICH
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A to H
genes
ADA2
ADAM17
ALPK1
AP1S3
CARD14
CDC42
CEBPE
COPA
ELF4
F12
HCK
I to L
genes
IKBKG
IL1R1
IL1RN
IL36RN
LACC1
LPIN2
LYN
M to O
genes
MEFV
MVK
NCSTN
NLRC4
NLRP1
NLRP12
NLRP3
NLRP7
NOD2
OTULIN
P to Q
genes
PLCG1
PLCG2
POMP
PSMA3
PSMB10
PSMB4
PSMB8
PSMB9
PSMG2
PSTPIP1
R to S
genes
RBCK1
RELA
RIPK1
SAMD9L
SH3BP2
SLC29A3
STING1
T to Z
genes
TNFAIP3
TNFRSF11A
TNFRSF1A
TRAP1
TRNT1
UBA1
WDR1
Close
A to H genes
ADA2
ADAM17
ALPK1
AP1S3
CARD14
CDC42
CEBPE
COPA
ELF4
F12
HCK
I to L genes
IKBKG
IL1R1
IL1RN
IL36RN
LACC1
LPIN2
LYN
M to O genes
MEFV
MVK
NCSTN
NLRC4
NLRP1
NLRP12
NLRP3
NLRP7
NOD2
OTULIN
P to Q genes
PLCG1
PLCG2
POMP
PSMA3
PSMB10
PSMB4
PSMB8
PSMB9
PSMG2
PSTPIP1
R to S genes
RBCK1
RELA
RIPK1
SAMD9L
SH3BP2
SLC29A3
STING1
T to Z genes
TNFAIP3
TNFRSF11A
TNFRSF1A
TRAP1
TRNT1
UBA1
WDR1
General web sites
LRG
LRG_1217
DNA
NC_000022.11
GRCh38.p13
ENSG00000093072
GRCh38.p13
NC_000022.10
GRCh37.p13
ENSG00000093072
GRCh37.p13
NG_033943.1
mRNA
NM_001282225.2
ENST00000399837.8
CCDS
CCDS13742.1
Protein
NP_001269154.1
ENSP00000382731.2
NCBI Gene
51816
OMIM Gene
607575
OMIM Disease
615688
Nomenclature
HGNC
PubMed of the initial paper:
Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2.
Zhou Q & al
Mutant Adenosine Deaminase 2 in a Polyarteritis Nodosa Vasculopathy.
Elkan PN & al
Variants review:
Human adenosine deaminase 2 deficiency: A multi-faceted inborn error of immunity
Moens L & al
Other links:
ORPHANET: Orphan disease database
MAP VIEW