Tissue expression of MAGEL2 - Summary - The Human Protein Atlas

GENERAL INFORMATION
Gene name	MAGEL2
Gene description	Melanoma antigen family L2
Protein class	Disease related genes Predicted intracellular proteins
Predicted localization	Intracellular
Number of transcripts	1
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category

HPA:	Tissue enhanced (cerebral cortex)
GTEx:	Group enriched (hypothalamus, pituitary gland)
FANTOM5:	Tissue enhanced (pituitary gland, caudate)

Protein evidence

Evidence at protein level

DATA RELIABILITY
Reliability score	Pending normal tissue annotation.

RNA AND PROTEIN EXPRESSION SUMMARY

RNA expression (TPM)

Protein expression (score)

Brain

N/A

Cerebral cortex

N/A

Hippocampus

N/A

Caudate

N/A

Cerebellum

N/A

Endocrine tissues

N/A

Thyroid gland

N/A

Parathyroid gland

N/A

Adrenal gland

N/A

Bone marrow & immune system

N/A

Appendix

N/A

Bone marrow

N/A

Lymph node

N/A

Tonsil

N/A

Spleen

N/A

Muscle tissues

N/A

Heart muscle

N/A

Skeletal muscle

N/A

Smooth muscle

N/A

Lung

N/A

Nasopharynx

N/A

Bronchus

N/A

Lung

N/A

Liver & gallbladder

N/A

Liver

N/A

Gallbladder

N/A

Pancreas

N/A

Pancreas

N/A

Gastrointestinal tract

N/A

Oral mucosa

N/A

Salivary gland

N/A

Esophagus

N/A

Stomach

N/A

Duodenum

N/A

Small intestine

N/A

Colon

N/A

Rectum

N/A

Kidney & urinary bladder

N/A

Kidney

N/A

Urinary bladder

N/A

Male tissues

N/A

Testis

N/A

Epididymis

N/A

Prostate

N/A

Seminal vesicle

N/A

Female tissues

N/A

Breast

N/A

Vagina

N/A

Cervix, uterine

N/A

Endometrium

N/A

Fallopian tube

N/A

Ovary

N/A

Placenta

N/A

Adipose & soft tissue

N/A

Adipose tissue

N/A

Soft tissue

N/A

Skin

N/A

Skin

N/A

PROTEIN EXPRESSION OVERVIEW
Pending normal tissue annotation.

RNA EXPRESSION OVERVIEW
HPA dataset Organ Expression Alphabetical RNA tissue category: Tissue enhanced (cerebral cortex)
GTEx dataset Organ Expression Alphabetical RNA tissue category: Group enriched (hypothalamus, pituitary gland)
FANTOM5 dataset Organ Expression Alphabetical RNA tissue category: Tissue enhanced (pituitary gland, caudate)

GENE INFORMATION
Gene name	MAGEL2 (HGNC Symbol)
Synonyms	NDNL1, nM15
Description	Melanoma antigen family L2 (HGNC Symbol)
Entrez gene 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]
Chromosome	15
Cytoband	q11.2
Chromosome location (bp)	23643544 - 23647841
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000254585 (version 83.38)
Entrez gene	54551
UniProt	Q9UJ55 (UniProt - Evidence at protein level)
neXtProt	NX_Q9UJ55
Antibodypedia	MAGEL2 antibodies

PROTEIN BROWSER

MAGEL2-001

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
MAGEL2-001 ENSP00000433433 ENST00000532292	Q9UJ55 [Direct mapping] MAGE-like protein 2 Show all	MEMSAT3 predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Disease related genes Show all	GO:0004842 [ubiquitin-protein transferase activity] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005737 [cytoplasm] GO:0005768 [endosome] GO:0005769 [early endosome] GO:0006351 [transcription, DNA-templated] GO:0030904 [retromer complex] GO:0034314 [Arp2/3 complex-mediated actin nucleation] GO:0042147 [retrograde transport, endosome to Golgi] GO:0042752 [regulation of circadian rhythm] GO:0045892 [negative regulation of transcription, DNA-templated] GO:0048511 [rhythmic process] GO:0051127 [positive regulation of actin nucleation] GO:0070534 [protein K63-linked ubiquitination] Show all	1249 aa 132.8 kDa	No	0