Summary Statistics:
ASD Reports: 3
Recent Reports: 0
Annotated variants: 2
Associated CNVs: 11
Evidence score: 2
Gene Score: 5
Relevance to Autism
Maged1-deficient mice develop a complex behavioral syndrome that includes reduced social interactions and memory, deficient sexual behavior, and increased anxiety and self-grooming, as well as progressive obesity associated with hyperphagia and reduced motor activity (Dombret et al., 2012)
Molecular Function
This gene is a member of the melanoma antigen gene (MAGE) family. Most of the genes of this family encode tumor specific antigens that are not expressed in normal adult tissues except testis. Although the protein encoded by this gene shares strong homology with members of the MAGE family, it is expressed in almost all normal adult tissues. This gene has been demonstrated to be involved in the p75 neurotrophin receptor mediated programmed cell death pathway.
References
Primary
Loss of Maged1 results in obesity, deficits of social interactions, impaired sexual behavior and severe alteration of mature oxytocin production in...
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Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing.
ASD, ID
Support
Integrating de novo and inherited variants in 42
ASD
GEN405R001
missense_variant
c.517G>A
p.Ala173Thr
Familial
Maternal
GEN405R002
missense_variant
c.601A>G
p.Asn201Asp
De novo
No Common Variants Available
X
Deletion-Duplication
25
X
Deletion-Duplication
13
X
Deletion-Duplication
21
No Animal Model Data Available
Summary Statistics:
Total Interactions: 34
Total Publications: 7
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Hide non-ASD
Interactor Symbol
Interactor Name
Interactor Organism
Entrez ID
Uniprot ID
Interaction Type
Evidence
Reference
A2BP1
RNA binding protein, fox-1 homolog (C. elegans) 1
54715
Q59HD3
Y2H
Corominas R , et al. 2014
AKAP9
A kinase (PRKA) anchor protein (yotiao) 9
10142
Q99996
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
ANK3
ankyrin 3, node of Ranvier (ankyrin G)
288
Q12955
IP/WB; GST
Kumar S , et al. 2011
BAG3
BCL2-associated athanogene 3
9531
O95817
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
BHLHE40
basic helix-loop-helix family, member e40
8553
O14503
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
BIRC8
baculoviral IAP repeat containing 8
112401
Q6PIA0
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
BRCA2
breast cancer 2, early onset
675
P51587
Y2H; IP/WB
Tian XX , et al. 2005
C1ORF94
chromosome 1 open reading frame 94
84970
Q6P1W5
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
CA8
carbonic anhydrase VIII
767
P35219
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
CCDC33
coiled-coil domain containing 33
80125
Q8N5R6
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
CUL3
cullin 3
8452
B7Z600
IP; MS; COMPASS
Bennett EJ , et al. 2010
DAB1
disabled homolog 1 (Drosophila)
1600
O75553
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
EIF4E2
eukaryotic translation initiation factor 4E family member 2
9470
O60573
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
FMR1
fragile X mental retardation 1
2332
G8JLE9
IP; LC-MS/MS
Li J , et al. 2016
KPNA2
karyopherin alpha 2 (RAG cohort 1, importin alpha 1)
3838
P52292
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
KRTAP19-5
keratin associated protein 19-5
337972
Q3LI72
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
MAGED1
melanoma antigen family D, 1
9500
Q9Y5V3
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
MAPK3
mitogen-activated protein kinase 3
5595
P27361
Y2H
Corominas R , et al. 2014
MDFI
MyoD family inhibitor
4188
Q99750
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
MEOX2
Homeobox protein MOX-2
4223
P50222
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
PITX1
paired-like homeodomain 1
5307
P78337
Y2H
Corominas R , et al. 2014
PRKAB2
protein kinase, AMP-activated, beta 2 non-catalytic subunit
5565
O43741
Y2H
Corominas R , et al. 2014
PRKAB2
protein kinase, AMP-activated, beta 2 non-catalytic subunit
5565
O43741
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
RBFOX1
RNA binding protein, fox-1 homolog (C. elegans) 1
54715
Q9NWB1
Y2H
Lim J , et al. 2006
RBFOX2
RNA binding protein, fox-1 homolog (C. elegans) 2
23543
O43251
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
RBM23
RNA binding motif protein 23
55147
Q86U06
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
RBPMS
RNA binding protein with multiple splicing
11030
Q93062
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
RHOXF2
Rhox homeobox family, member 2
84528
Q9BQY4
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
SMAP2
small ArfGAP2
64744
Q8WU79
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
SNRPC
small nuclear ribonucleoprotein polypeptide C
6631
P09234
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
TFG
TRK-fused gene
10342
Q92734
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
TTC23
tetratricopeptide repeat domain 23
64927
Q5W5X9
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
TTC32
tetratricopeptide repeat domain 32
NM_001008237
Q5I0X7
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
ZNF488
zinc finger protein 488
118738
Q96MN9
Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014