MANEAL (mannosidase endo-alpha like)

2014-11-01  

Identity

HGNC
MANEAL
LOCATION
1p34.3
LOCUSID
149175
ALIAS
-

Other Information

Locus ID:

NCBI: 149175
HGNC: 26452
Ensembl: ENSG00000185090

Variants:

dbSNP: 149175
ClinVar: 149175
TCGA: ENSG00000185090
COSMIC: MANEAL

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000185090ENST00000329006Q5VSG8
ENSG00000185090ENST00000373045Q5VSG8
ENSG00000185090ENST00000397631Q5VSG8
ENSG00000185090ENST00000525897E9PMU5
ENSG00000185090ENST00000532512H0YCZ3

Expression (GTEx)

0
5
10
15
20
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

References

Pubmed IDYearTitleCitations
286128352017Coexisting variants in OSTM1 and MANEAL cause a complex neurodegenerative disorder with NBIA-like brain abnormalities.2

Citation

Dessen P

MANEAL (mannosidase endo-alpha like)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/68785/maneal