Gene
MAGEL2
MAGE family member L2
- HGNC 6814↗(opens in a new tab)
- Ensembl gene ENSG00000254585↗(opens in a new tab)
- NCBI Gene 54551↗(opens in a new tab)
Summary
- Cytogenetic location
- 15q11.2
- Coordinates
- Chromosome 15: 23,643,549–23,647,867 (GRCh38)
- Exons
- 1 exon across 4.3 kb
- Protein
- 1,249 amino acids
- Also known as
- nM15
- Previous symbols
- NDNL1
- MANE Select transcript
- ENST00000650528.1NM_019066.5
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome TestCurated reports relevant to this gene
Hypogonadotropic Hypogonadism
Abnormal ovarian or testicular function due to insufficient hormonal stimulation from the hypothalamic-pituitary axis.
- ClinGen rates the link definitive
- 5 GenCC submitters rate it definitive or strong
Imprinting Disorders: Prader-Willi, Silver-Russell and Beckwith-Wiedemann
- Prader-Willi syndrome
A condition caused by loss of the paternally inherited 15q11-q13 region, causing low muscle tone and feeding difficulties in infancy followed by excessive appetite, obesity, short stature, hypogonadism and learning difficulties.
- ClinGen rates the link definitive
- 5 GenCC submitters rate it definitive or strong
What knowing changes
Early diagnosis allows growth hormone treatment, dietary management and hormone monitoring.
How MAGEL2 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 4.3 kb of the gene's 4.3 kb; 3,750 of those bases code for the protein.
How a genome test reads MAGEL2
56
positions in MAGEL2 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 4.3 kb of MAGEL2, introns included, not only the 4.3 kb of exons.
Genes linked to the same conditions
- SNRPNsmall nuclear ribonucleoprotein polypeptide NShares 2 conditions
- ANOS1anosmin 1Shares 1 condition
- ARHGAP35Rho GTPase activating protein 35Shares 1 condition
- CHD7chromodomain helicase DNA binding protein 7Shares 1 condition
- CPEcarboxypeptidase EShares 1 condition
- DCAF17DDB1 and CUL4 associated factor 17Shares 1 condition
- FEZF1FEZ family zinc finger 1Shares 1 condition
- FGF17fibroblast growth factor 17Shares 1 condition
- FGF8fibroblast growth factor 8Shares 1 condition
- FGFR1fibroblast growth factor receptor 1Shares 1 condition
- FOXA2forkhead box A2Shares 1 condition
- FSHBfollicle stimulating hormone subunit betaShares 1 condition
Traits linked to MAGEL2
The Human Phenotype Ontology lists these as features of the rare conditions MAGEL2 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Autism spectrum disorder
- Global developmental delay
- Intellectual disability
- Akinesia
- Decreased muscle movement
- Delayed speech and language development
- Excessive daytime sleepiness
- Increased appetite
Show 39 more traits
- Motor delay
- Neurodevelopmental delay
- Self-injurious behavior
- Specific learning disability
- Ventriculomegaly
- Abnormal temper tantrums
- Attention deficit
- Autism
- Behavioral abnormality
- Binge and purge
- Brain imaging abnormality
- Cognitive impairment
- Difficulty sleeping
- Diminished deep tendon reflex
- Impaired pain sensation
- Intellectual disability, borderline
- Intellectual disability, mild
- IQ between 34 and 49
- Obsessive-compulsive trait
- Occipital cortical atrophy
- Parietal cortical atrophy
- Pauses in breathing while sleeping
- Perisylvian polymicrogyria
- Psychosis
- Skin-picking
- Speech articulation difficulties
- Abnormal rapid eye movement sleep
- Central sleep apnea
- Epilepsy
- Impaired temperature sensation
- Impulsivity
- Lethargy
- Obsessive compulsive behavior
- Obstructive sleep apnea
- Poor fine motor coordination
- Absent speech development
- Delayed ability to walk
- Inability to walk
- Poor gross motor coordination
Abnormality of head or neck
- Abnormal facial shape
- Little lower jaw
- Almond shaped eyes
- Cleft palate
- Cystic hygroma
- Depressed nasal bridge
- Downturned corners of mouth
- Narrow forehead
Show 15 more traits
- Narrow nasal bridge
- Thin red part of the upper lip
- Dandy-Walker malformation
- Decreased salivary flow
- Dental cavities
- Upward slanting of the opening between the eyelids
- Abnormality of the philtrum
- Big lower jaw
- Coarse facial features
- Frontal bossing
- Long, narrow head
- Open mouth
- Receding chin
- Short opening between the eyelids
- Thick eyebrow
Abnormality of the digestive system
- Feeding difficulties
- Feeding difficulties in infancy
- Poor suck
- Tube feeding
- Acid reflux
- Chronic constipation
- Nasogastric tube feeding
- Delayed gastric emptying
Show 2 more traits
Abnormality of the genitourinary system
- Infertility
- Underdevelopment of external reproductive organs
- Undescended testes
- Decreased testicular size
- Light or infrequent menstrual periods
- Primary amenorrhea
- Short penis
- Small clitoris
Show 2 more traits
Abnormality of the eye
- Abnormality of the eye
- Abnormality of vision
- Cross-eyed
- Light eye color
- Wide-set eyes
- Chorioretinal hypopigmentation
- Close sighted
- Inward turning cross eyed
Show 1 more trait
Growth abnormality
- Faltering weight in infancy
- Obesity
- Prenatal growth deficiency
- Short stature
- Abdominal obesity
- Class III obesity
- Faltering weight
- Increased body weight
Show 1 more trait
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). MAGEL2 gene: MAGE family member L2. Retrieved 17 October 2026, from https://dantelabs.com/genes/magel2
Dante Labs. MAGEL2 gene: MAGE family member L2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/magel2
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