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MAGEL2 Gene

protein-coding GIFtS: 50

GC15M021439

MAGE-like 2
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: NDNL1)

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
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Aliases
NDNL1 ^², ³, ⁵
nM15 ^¹, ²

Descriptions
MAGE-like 2 ^²
MAGE-like protein 2 ^²
Necdin-like protein 1 ^³
Protein nM15 ^³

External Ids
HGNC: 6814¹
Entrez Gene: 54551²
UniProtKB: Q9UJ55³
Ensembl: ENSG00000179449⁷

Search outside databases for aliases for MAGEL2 gene

Previous GC identifers: GC15M021024 GC15M016778 GC15M021306 GC15M021436

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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EntrezGene summary for MAGEL2:

Prader-Willi syndrome (PWS) is caused by the loss of expression of imprinted genes in chromosome

15q11-q13. Affected individuals exhibit neonatal hypotonia, developmental delay, and

childhood-onset obesity. Necdin (NDN), a gene involved in the terminal differentiation of neurons,

localizes to this region of the genome and has been implicated as one of the genes responsible for

the etiology of PWS. This gene is structurally similar to NDN, is also localized to the PWS

chromosomal region, and is paternally imprinted, suggesting a possible role for it in PWS.

[provided by RefSeq]

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
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Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the MAGEL2 gene

Entrez Gene cytogenetic band: 15q11-q12 Ensembl cytogenetic band: 15q11.2 HGNC cytogenetic band: 15q11-q12

MAGEL2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 15 GeneLoc Exon Structure

GeneLoc location for GC15M021439: (about GC identifiers)

Start:	21,439,789 bp from pter
End:	21,442,268 bp from pter
Size:	2,480 bases
Orientation:	minus strand

RefSeq DNA sequence:

NC_000015.8 NT_026446.13

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: MAGL2_HUMAN, Q9UJ55 (See protein sequence)

Recommended Name: MAGE-like protein 2

Size: 529 amino acids; 58669 Da

REFSEQ proteins: NP_061939.2
Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
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	Recombinant Proteins from Abcam (MAGEL2)
	Browse Abnova for Human Recombinant Proteins

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

1 Gene Ontology (GO) cellular component term (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005575	cellular_component	ND	--

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Antibodies for MAGEL2:

	Browse Antibodies Central at Invitrogen
	Millipore Mono- and Polyclonal Antibodies for the study of MAGEL2
	Browse Antibodies at Sigma-Aldrich
	Browse R&D Systems for Antibodies
	Antibodies from Abcam (MAGEL2), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (MAGEL2)
	Search Novus for antibodies for MAGEL2

Assays for MAGEL2:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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Graphical View of Domain Structure for InterPro Entry Q9UJ55

ProtoNet protein and cluster: Q9UJ55

1 Blocks protein family: IPB002190 MAGE protein

UniProtKB/Swiss-Prot: MAGL2_HUMAN, Q9UJ55

Similarity: Contains 1 MAGE domain

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (MAGEL2)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_019066

Applied Biosystems Silencer® siRNAs for MAGEL2

Sigma-Aldrich siRNA for MAGEL2

Sigma-Aldrich shRNA for MAGEL2

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Browse Clone Ranger at Invitrogen for clones
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clone in CMV expression vector: NM_019066
Myc/DDK tagged cDNA clone in CMV expression vector: NM_019066
untagged cDNA clones in CMV expression vector (see all 2): NM_019066

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_019066

Genatlas biochemistry entry for MAGEL2:

melanoma antigen (MAGE)-like 2,intronless located in the PWCR region,(paternally) expressed in

brain,fetal and adult,maternally imprinted

9 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Magel2):

behavior/neurological	cellular	endocrine/exocrine gland	growth/size	homeostasis/metabolism
lethality-postnatal	life span-post-weaning/aging	reproductive system	taste/olfaction

1 Gene Ontology (GO) molecular function term (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003674	molecular_function	ND	--

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(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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1 Gene Ontology (GO) biological process term (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0008150	biological_process	ND	--

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for MAGEL2

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (MAGEL2)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_019066

Sigma-Aldrich siRNA for MAGEL2

Sigma-Aldrich shRNA for MAGEL2

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_019066

REFSEQ mRNAs for MAGEL2 gene:

NM_019066.3

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_019066

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_019066
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_019066
                                 untagged cDNA clones in CMV expression vector (see all 2): NM_019066

Additional cDNA sequence:

AJ243531.1 BC035839.1 BC063834.1 BC112257.1 BC112259.1 CR592043.1

1 DOTS entry:

DT.431115

24/32 AceView cDNA sequences (see all 32 ):

AA939255 AI202090 CR592043 AI702224 AL528236 BM547670 BC063834 BC035839

BQ884030 AI375768 AI129312 AA451737 BX108950 BG914365 AJ243531 NM_019066

BI912687 AA418718 BF968700 BF058258 AI206611 AV751488 BM887989 AA027026

highest scoring ESTs for MAGEL2:

AA451737 AI741115 AJ243531 BC035839 BC063834 BM547670 AA418718 AA418761 AA424172 AA939255

Unigene Cluster for MAGEL2:

MAGE-like 2

Hs.141496 [show with all ESTs]

Unigene Representative Sequence: BC063834

GeneLoc Exon Structure

1 Ensembl transcript including schematic representation:

ENST00000314233

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
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MAGEL2 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for MAGEL2

¹ / ² / ³

3 probe-sets matching MAGEL2 gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
76963_at²^{, 3}	U95-E	1	1.00	1.00	1.00	1.00	AI741115	0.80	1.00	0.91	1
219894_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_019066	0.40	1.00	0.76	1
219894_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

GeneDecks MAGEL2 for binary patterns associated with the probe-sets selected above

About GeneDecksing

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Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: TAGCATTGTA

SOURCE GeneReport for Unigene cluster: Hs.141496
UniProtKB/Swiss-Prot: MAGL2_HUMAN, Q9UJ55
Tissue specificity: Expressed in placenta, fetal and adult brain. Not detected in heart and small
intestine, very low levels in fibroblasts. Not expressed in brain of a Prader-Willi patient

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for MAGEL2 gene from 3 species

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
cow (Bos taurus)	MAGEL2¹	--	MAGE-like 2	81.6(n) 74.34(a)	538665 XM_581873.3 XP_581873.3
rat (Rattus norvegicus)	Magel2¹	--	MAGE-like 2	75.74(n) 62.97(a)	679875 XM_001054803.1 XP_001054803.1
mouse (Mus musculus)	Magel2^{1, 5}	7 (28.00 cM)⁵	melanoma antigen, family L, 2^{1, 5}	76.37(n)¹ 64.4(a)¹	27385¹ XM_622091.3¹ XP_622091.2¹ AA049350⁵ AA198619⁵ (see all 16)

About this table Species with no ortholog for MAGEL2

ENSEMBL Gene Tree for MAGEL2

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
About This Section

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
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10/25 NCBI SNPs in MAGEL2 are shown (see all 25 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 36)

AB	SNP ID	Valid	Chr 15 pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--				--
	rs850823^1,2	A,C,F,H,O	21439402(-)	`CGTGGG/CGGGGT`	1	--	ng5¹		5		MN EU EA WA	602
	rs8920^1,2	A,C,F,H	21439984(-)	`GTGTTA/TTAATT`	1	--	ut3¹		11		MN EU EA WA CSAM	1186
	rs11161318^1,2	A,C,F,H	21439359(+)	`CGGTAG/ACAGTG`	1	--	ng5¹		14		EU EA WA	1438
	rs9785^1,2	A,C,F	21440126(-)	`GTGTAA/CGTTTG`	1	--	ut3¹		7		MN CSAM EA	768
	rs34875116^1,2	C,F	21440293(+)	`TCATCC/GTCATC`	1	E/D	mis¹		5		NA EU EA WA	498
	rs2233070^1,2	C,F	21440832(-)	`TCATCC/ATCCGA`	1	I/L	mis¹ ese³		1		NA	76
	rs2233067^1,2	H	21441350(-)	`CGAGCC/TGCCAC`	1	P/L	mis¹ ese³		4		EU EA WA	410
--	rs10739^1,2	C	21440081(+)	`AAAAAT/AGTACA`	1	--	ut3¹		6		MN CSAM EA	580
--	rs34498210^1,2	--	21440198(+)	`GGCCA-/GGGGAA`	1	--	ut3¹		0	--	--	--	--
	rs2233061^1,2	--	21442697(-)	`ACCACC/TGGTGC`	1	--	ng3¹		0	--	--	--	--

About this table

HapMap Linkage Disequilibrium images for MAGEL2 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 605283

UniProtKB/Swiss-Prot: MAGL2_HUMAN, Q9UJ55

Defects in MAGEL2 may be a cause of the Prader-Willi syndrome (PWS) which is a contiguous

gene syndrome resulting from inactivity of the paternal copies of a number of genes on 15q11,

through deletion or disruption of these genes or maternal uniparental disomy 15. The PWS syndrome

is characterized by muscular hypotonia, mental retardation, short stature, obesity,

hypogonadotropic hypogonadism, and small hands and feet

2 Novoseek disease relationships for MAGEL2 gene

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
angelman syndrome	86.05	1	14593116 (1)
prader-willi syndrome	85.69	2	14593116 (2)

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(Possibly Related Articles in Doctor's Guide)
About This Section

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
About This Section

9 PubMed articles for MAGEL2 gene:

The human MAGEL2 gene and its mouse homologue are paternally expressed and mapped to the Prader-Willi region. (PubMed id 10556298)^{2, 3, 4} Boccaccio I....Muscatelli F. (1999)
Expression and imprinting of MAGEL2 suggest a role in Prader-Willi syndrome and the homologous murine imprinting phenotype. (PubMed id 10915770)^{3, 4} Lee S.... Wevrick R. (2000)
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)³ Strausberg R.L....Marra M.A. (2002)
Necdin-related MAGE proteins differentially interact with the E2F1 transcription factor and the p75 neurotrophin receptor. (PubMed id 14593116)¹ Kuwako K....Yoshikawa K. (2004)
The Prader-Willi syndrome murine imprinting center is not involved in the spatio-temporal transcriptional regulation of the Necdin gene. (PubMed id 15634360)¹ Watrin F....Muscatelli F. (2005)
Exclusion of the C/D box snoRNA gene cluster HBII-52 from a major role in Prader-Willi syndrome. (PubMed id 15565282)¹ Runte M....Buiting K. (2005)
Association of acetylated histones with paternally expressed genes in the Prader--Willi deletion region. (PubMed id 11230184)¹ Fulmer-Smentek S.B. and Francke U. (2001)
Retrotransposed genes such as Frat3 in the mouse Chromosome 7C Prader-Willi syndrome region acquire the imprinted status of their insertion site. (PubMed id 11845283)¹ Chai J.H....Nicholls R.D. (2001)
The IC-SNURF-SNRPN transcript serves as a host for multiple small nucleolar RNA species and as an antisense RNA for UBE3A. (PubMed id 11726556)¹ Runte M....Buiting K. (2001)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
About This Section

Entrez Gene: 54551	HGNC: 6814	AceView: MAGEL2	Ensembl:ENSG00000179449	euGenes: HUgn54551
ECgene: MAGEL2	H-InvDB: MAGEL2

(According to HUGE)
About This Section

(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Licensable Technologies for MAGEL2
(Available from WIS Yeda, Salk, Tufts)

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(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
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Products for MAGEL2:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for MAGEL2-related products

	Millipore Custom Antibody & Bulk Services
	Millipore Preclinical / Clinical Development Services
	Millipore Immunoassay Services
	Millipore Target Screening & Profiling Services

	Predesigned and custom siRNAs for MAGEL2		Browse antibodies at Sigma-Aldrich
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	Lentivirus-delivered shRNAs for MAGEL2		Browse small molecules at Sigma-Aldrich
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MAGEL2 Gene

protein-coding GIFtS: 50

Aliases &
Descriptions
for MAGEL2

Summaries
for MAGEL2

Genomic Location
for MAGEL2

Proteins
for MAGEL2

Protein Domains/
Families
for MAGEL2

Gene Function
for MAGEL2

Pathways & Interactions
for MAGEL2

Drugs & Compounds
for MAGEL2

Transcripts
for MAGEL2

Expression
for MAGEL2

Orthologs
for MAGEL2

Paralogs
for MAGEL2

SNPs/Variants
for MAGEL2

Disorders & Mutations
for MAGEL2

Medical News
for MAGEL2

Publications
for MAGEL2

Search for MAGEL2

Genome Databases showing MAGEL2

Other Databases showing MAGEL2

Specialized Databases showing MAGEL2

Licensable Technologies
for MAGEL2

Services
for MAGEL2

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

MAGEL2 Gene

protein-coding GIFtS: 50

Aliases & Descriptionsfor MAGEL2

Summariesfor MAGEL2

Genomic Locationfor MAGEL2

Proteinsfor MAGEL2

Protein Domains/Familiesfor MAGEL2

Gene Functionfor MAGEL2

Pathways & Interactionsfor MAGEL2

Drugs & Compoundsfor MAGEL2

Transcriptsfor MAGEL2

Expression for MAGEL2

Orthologsfor MAGEL2

Paralogsfor MAGEL2

SNPs/Variantsfor MAGEL2

Disorders & Mutationsfor MAGEL2

Medical Newsfor MAGEL2

Publicationsfor MAGEL2

Search for MAGEL2

Genome Databases showing MAGEL2

Other Databases showing MAGEL2

Specialized Databases showing MAGEL2

Licensable Technologiesfor MAGEL2

Servicesfor MAGEL2

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for MAGEL2

Summaries
for MAGEL2

Genomic Location
for MAGEL2

Proteins
for MAGEL2

Protein Domains/
Families
for MAGEL2

Gene Function
for MAGEL2

Pathways & Interactions
for MAGEL2

Drugs & Compounds
for MAGEL2

Transcripts
for MAGEL2

Expression
for MAGEL2

Orthologs
for MAGEL2

Paralogs
for MAGEL2

SNPs/Variants
for MAGEL2

Disorders & Mutations
for MAGEL2

Medical News
for MAGEL2

Publications
for MAGEL2

Licensable Technologies
for MAGEL2

Services
for MAGEL2