MAGEL2 - MAGE family member L2 Gene

Homo sapiens

Also known as PWLS; nM15; NDNL1; SHFYNG

Gene ID: 54551 | Gene type: protein coding

About MAGEL2

Cytogenetic location: 15q11.2 Genomic coordinates (GRCh38): 15:23,643,549-23,647,867 (from NCBI)

This gene has 1 transcript (splice variant), 1 gene allele, 162 orthologues, 37 paralogues and is associated with 8 phenotypes.

Summary

Prader-Willi syndrome (PWS) is caused by the loss of expression of imprinted genes in chromosome 15q11-q13 region. 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, Oct 2010]

MAGEL2 Products(1)

mRNA	Protein	Name
NM_019066.5	NP_061939.3	MAGE-like protein 2

MAGEL2 Protein Structure

MAGE

0
100
200
300
400
500
600
646 a.a.

Protein Preferred Names

Protein Names

MAGE-like protein 2

melanoma antigen family L2

Related Diseases

Diseases

Alias

Schaaf-Yang Syndrome

Prader-Willi-Like Syndrome	Chitayat-Hall Syndrome
SHFYNG	Pwls
Magel2-Related Prader-Willi-Like Syndrome	Magel2-Related Pwls
Arthrogryposis, Distal, With Hypopituitarism, Mental Retardation, And Facial Anomalies	Distal Arthrogryposis With Hypopituitarism, Intellectual Disability And Facial A
Distal Arthrogryposis With Hypopituitarism, Intellectual Disability And Facial Anomalies	Pws Due To A Point Mutation
Pws Due To Point Mutation	Prader-Willi Syndrome Due To A Point Mutation
Prader-Willi Syndrome Due To Point Mutation	Pws-Like

Prader-Willi Syndrome

Prader-Labhart-Willi Syndrome	PWS
Willi-Prader Syndrome	Prader-Willi Syndrome Due To Translocation
Prader-Willi Syndrome Due To Imprinting Mutation	Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Prader Willi Syndrome	Upd(15)Mat

Hydrocephalus, Congenital, 1

Hydrocephaly	Ventriculomegaly
Hydrocephalus, Nonsyndromic, Autosomal Recessive 1	HYC1
Congenital Non-Communicating Hydrocephalus	Hydrocephalus, Nonsyndromic, Autosomal Recessive 1, Formerly
Congenital Obstructive Hydrocephalus	Hydrocephalus, Non-Syndromic, Autosomal Recessive 1
Hydrocephalus

Prader-Willi Syndrome Due To Paternal Deletion Of 15q11q13 Type 1

Prader-Willi Syndrome Due To Paternal Deletion Of 15q11q13 Type 2

Angelman Syndrome

AS	Happy Puppet Syndrome
Happy Puppet Syndrome, Formerly	Puppetlike Syndrome

Precocious Puberty, Central, 2

CPPB2	Central Precocious Puberty 2
Precocious Puberty, Central 2	Precocious Puberty, Central, Type 2

Developmental And Epileptic Encephalopathy 11

Epileptic Encephalopathy, Early Infantile, 11	DEE11
Eiee11	Developmental And Epileptic Encephalopathy, 11
Early Infantile Epileptic Encephalopathy 11	Encephalopathy, Developmental And Epileptic, Type 11

Central Precocious Puberty

Cpp	Gonadotropin-Dependant Precocious Puberty
Gonadotropin-Dependent Precocious Puberty	Precocious Puberty, Central

Autism

Autistic Disorder	Autism Susceptibility 1
Childhood Autism	Autistic Disorder Of Childhood Onset
Infantile Autism	Kanner'S Syndrome
Autistic

Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay

CLIFAHDD	Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome
Clifahdd Syndrome	Doid:0081048
Contractures, Limbs And Face, Congenital, Hypotonia, And Developmental Delay

Hypopituitarism

Pituitary Hypofunction	Pituitary Insufficiency
Pituitary Hormone Deficiency	Subpituitarism
Hypophyseal Dystrophy	Hypohypophysism
Anterior Pituitary Insufficiency	Deficient Secretion Of One Or More Pituitary Hormones
Hypopituitarism Syndrome	Pituitary Deficiency
Pituitary Failure	Pituitary Insufficiency Nos
Anterior Pituitary Hypofunction	Deficient Secretion Of All Pituitary Hormones
Hypopituitary Dwarfism	Hyposomatotropic Dwarfism
Hypophyseal Dwarfism	Hypopituitary Cachexia
Hypophyseal Short Stature	Panhypopituitarism Syndrome
Pituitary Cachexia	Juvenile Hypopituitarism
Pituitary Dwarfism	Pituitary Gland Hypofunction
Primary Hypopituitarism	Secondary Hypogonadism
Prepubertal Panhypopituitarism	Prepubertal Dwarfism
Postpartum Panhypopituitary Syndrome	Postpartum Hypopituitarism
Pituitary Short Stature	Pituitary Infantilism
Pituitary Hypogonadism	Pituitary Hypoadrenocorticism

Melanoma

Malignant Melanoma	Cutaneous Melanoma
Naevocarcinoma	Malignant Melanomas

Cold-Induced Sweating Syndrome

Crisponi Syndrome	Sohar-Crisponi Syndrome
Ciss	Cntf Receptor-Related Disorders
Muscle Contractions, Tetanoform, With Characteristic Face, Camptodactyly, Hyperthermia, And Sudden Death	Sweating Syndrome, Cold-Induced

Acquired Night Blindness

Distal Arthrogryposis

Arthrogryposis Multiplex Congenita	Arthrogryposis
Congenital Multiple Arthrogryposis	Congenital Arthromyodysplasia
Fibrous Ankylosis Of Multiple Joints	Guerin-Stern Syndrome
Guérin-Stern Syndrome	Myodystrophia Fetalis Deformans
Otto Syndrome	Rocher-Sheldon Syndrome
Rossi Syndrome	Amc
Multiple Congenital Arthrogryposis	Arthrogryposis Syndrome
Arthrogryposis, Distal	Distal Arthrogryposis Syndrome
Freeman-Sheldon Syndrome	Arthrogryposis, Distal, Type 2b
Congenital Multiplex Arthrogryposis	Amyoplasia Congenita
Congenital Amyoplasia	Amc - [Arthrogryposis Multiplex Congenita]

Hypotonia

Chromosomal Disease

Chromosomal Disorders

Congenital Chromosomal Disease

Leptin Deficiency Or Dysfunction

Morbid Obesity	Obesity Due To Congenital Leptin Deficiency
LEPD	Congenital Leptin Deficiency
Obesity, Morbid	Obesity, Morbid, Due To Leptin Deficiency
Severe Obesity	Obesity, Morbid, Nonsyndromic 1
Leptin Deficiency	Obesity, Severe, Due To Leptin Deficiency
Leptin	Morbid Obesity Due To Leptin Deficiency
Obesity Morbid	Leptin Dysfunction

Autism Spectrum Disorder

Asd	Autism Spectrum Disorders
Autistic Continuum	Pervasive Developmental Disorder
Pervasive Development Disorder	Autistic Behavior
Autistic Disorder	Autistic
Autistic Disorder Of Childhood Onset	Infantile Autism
Childhood Autism	Kanner Syndrome
Pervasive Developmental Delay Nos	Pervasive Developmental Disorder, Not Otherwise Specified

Temple Syndrome

Uniparental Disomy, Maternal, Chromosome 14	Temple Syndrome Due To Paternal 14q32.2 Microdeletion
Paternal Del(14)(Q32.2)	Temple Syndrome Due To Paternal 14q32.2 Hypomethylation
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Upd(14)Mat

Multiple Pterygium Syndrome, Escobar Variant

Multiple Pterygium Syndrome	Pterygium
Escobar Syndrome	EVMPS
Pterygium Syndrome	Autosomal Recessive Multiple Pterygium Syndrome
Pterygium Colli Syndrome	Pterygium Universale
Autosomal Recessive Non-Lethal Multiple Pterygium Syndrome	Escobar Variant Multiple Pterygium Syndrome
Multiple Pterygium Syndrome, Nonlethal Type	Surfer'S Eye
Multiple Pterygium Syndrome Escobar Type	Multiple Pterygium Syndrome Nonlethal Type
Familial Pterygium Syndrome	Pterygium Colli
Multiple Pterygium Syndrome, Non-Lethal Type	Nonlethal Type Multiple Pterygium Syndrome
Pterygium Syndrome, Multiple, Escobar Type	Pterygium Of Eye
Web Eye

Chromosome 15q13.3 Deletion Syndrome

Chromosome 15q13.3 Microdeletion Syndrome	15q13.3 Microdeletion Syndrome
15q13.3 Microdeletion	Microdeletion 15q13.3 Syndrome
Del(15)(Q13.3)	Monosomy 15q13.3

Silver-Russell Syndrome 1

Silver-Russell Syndrome	Russell-Silver Syndrome
Silver-Russell Dwarfism	Rss
SRS1	Srs
Silver Russell Dwarfism	Russell Silver Syndrome
Silver Russell Syndrome

Cryptorchidism, Unilateral Or Bilateral

Cryptorchidism	Undescended Testicle
Undescended Testis	Cryptorchism
Undescended Testicles	CRYPTO
Impaired Testicular Descent	Cryptosporidiosis
Retained Testis	Unilateral Cryptorchidism
Unilateral Undescended Testis	Nondescent Unilateral Testicle
Unilateral Cryptorchism	Ectopic Testis, Unilateral
Bilateral Cryptorchidism	Bilateral Cryptorchism
Bilateral Nondescent Testicle	Bilateral Undescended Testes
Bilateral Ectopic Testes

Beckwith-Wiedemann Syndrome

Wiedemann-Beckwith Syndrome	BWS
Exomphalos-Macroglossia-Gigantism Syndrome	Emg Syndrome
Beckwith-Wiedemann Syndrome Due To Cdkn1c Mutation	Emg Abnormality
Wbs	Exomphalos Macroglossia Gigantism Syndrome
Beckwith-Wiedemann Syndrome Due To Nsd1 Mutation	Macroglossia Exomphalos Gigantism

Strabismus

Strabismus, Susceptibility To	Strabismus, Susceptibility To, 1
Strabismus 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07980	MAGEL2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	MAGEL2	VGNC	VGNC:31146
Mus musculus	MAGEL2	MGD	MGI:1351648
Rattus norvegicus	MAGEL2	RGD	RGD:1583615
Canis familiaris	MAGEL2	VGNC	VGNC:42927
Felis catus	MAGEL2	VGNC	VGNC:104487

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