Official Symbol

MAGEL2provided by HGNC

Official Full Name

MAGE-like 2provided by HGNC

Primary Source

HGNC:6814

See related

HPRD:12008; MIM:605283

Gene type

protein coding

RefSeq status

VALIDATED

Organism

Homo sapiens

Lineage

Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo

Also known as

nM15; NDNL1; MAGEL2

Summary

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]

(minus strand) Go to reference sequence detailsTry our new Sequence Viewer

chromosome: 15; Location: 15q11-q12See MAGEL2 in MapViewer

Preferred Names

MAGE-like protein 2

Names

MAGE-like protein 2

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

1. NM_019066.4 → NP_061939.3  MAGE-like protein 2

   Source sequence(s)

   AC124309

   Conserved Domains (1) summary

   pfam01454
   Location:1027 – 1197
   Blast Score: 698

   MAGE; MAGE family

RefSeqs of Annotated Genomes: Build 37.1

The following sections contain reference sequences that belong to a specific genome build. Explain

This section includes genomic Reference Sequences (RefSeqs) from all assemblies on which this gene is annotated, such as RefSeqs for chromosomes and scaffolds (contigs) from both reference and alternate assemblies. Model RNAs and proteins are also reported here.

Genome Reference Consortium Human Build 37 (GRCh37), Primary_Assembly

Genomic

1. NC_000015.9

   Range

   23888695..23891174, complement

   Download

   GenBank FASTA Sequence Viewer (Graphics)

2. NT_026446.14 

   Range

   323842..326321, complement

   Download

   GenBank FASTA Sequence Viewer (Graphics)

Alternate assembly (Celera)

Genomic

1. AC_000058.1

   Range

   2049599..2052078, complement

   Download

   GenBank FASTA Sequence Viewer (Graphics)

2. NW_925783.1 

   Range

   270560..273039, complement

   Download

   GenBank FASTA Sequence Viewer (Graphics)

Alternate assembly (HuRef)

Genomic

1. AC_000147.1

   Range

   2024178..2026657, complement

   Download

   GenBank FASTA Sequence Viewer (Graphics)

2. NW_001838194.1 

   Range

   331209..333688, complement

   Download

   GenBank FASTA Sequence Viewer (Graphics)