SH3BP2
(
NM_003023.4
)
sequence variants
(3BP2/CRBM/CRPM/RES4-23/FLJ42079/FLJ54978/SH3-domain binding protein 2)
Editor(s):
Ernst REICHENBERGER
H
ome Page
V
ariants list
S
equences
D
ownload
U
seful links
S
tatistics
B
uild your graph
C
ontact
Submit a novel sequence variant
Submit a novel complex allele
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_1334
DNA
NC_000004.12
GRCh38.p13
ENSG00000087266
GRCh38.p13
NC_000004.11
GRCh37.p13
ENSG00000087266
GRCh37.p13
NG_011609.1
mRNA
NM_003023.4
CCDS
CCDS33944.1
Protein
NP_003014.3
NCBI Gene
6452
OMIM Gene
602104
OMIM Disease
118400
Nomenclature
HGNC
PubMed of the initial paper:
Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism.
Ueki Y & al.
Other links:
MAP VIEW
ORPHANET: Orphan disease database