PSMG2
(
NM_020232.5
)
sequence variants
(HCCA3, MDS003, MGC15092, CLAST3, HsT1707, PAC2)
Editor(s):
Adriana ALMEIDA DE JESUS
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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
DNA
NC_0000018.10
GRCh38.p13
ENSG00000128789
GRCh38.p13
NC_0000018.9
GRCh37.p13
ENSG00000128789
GRCh37.p13
mRNA
NM_020232.5
ENST00000317615.11
CCDS
CCDS11862.1
Protein
NP_064617.2
ENSP00000325919.6
NCBI Gene
56984
OMIM Gene
609702
OMIM Disease
619183
Nomenclature
HGNC
PubMed of the initial paper:
Novel proteasome assembly chaperone mutations in PSMG2/PAC2 cause the autoinflammatory interferonopathy CANDLE/PRAAS4.
de Jesus AA & al
Other links:
MAP VIEW
ORPHANET: Orphan disease database