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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.

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References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Loss of Maged1 results in obesity, deficits of social interactions, impaired sexual behavior and severe alteration of mature oxytocin production in...
Support
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

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN405R001 
 missense_variant 
 c.517G>A 
 p.Ala173Thr 
 Familial 
 Maternal 
  
 GEN405R002 
 missense_variant 
 c.601A>G 
 p.Asn201Asp 
 De novo 
  
  

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
X
Deletion-Duplication
 25
 
X
Duplication
 1
 
X
Deletion-Duplication
 13
 
X
Duplication
 1
 
X
Duplication
 7
 
X
Duplication
 1
 
X
Deletion
 2
 
X
Deletion
 4
 
X
Deletion-Duplication
 1
 
X
Deletion
 1
 
X
Deletion-Duplication
 21
 

No Animal Model Data Available


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

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