MDGA1 (MAM domain containing glycosylphosphatidylinositol anchor 1)

2014-08-01  

Identity

HGNC
MDGA1
LOCATION
6p21.2
LOCUSID
266727
ALIAS
GPIM,MAMDC3
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 266727
MIM: 609626
HGNC: 19267
Ensembl: ENSG00000112139

Variants:

dbSNP: 266727
ClinVar: 266727
TCGA: ENSG00000112139
COSMIC: MDGA1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000112139ENST00000418178H0Y4Q2
ENSG00000112139ENST00000434837Q8NFP4
ENSG00000112139ENST00000502298H0YA23
ENSG00000112139ENST00000505425Q8NFP4
ENSG00000112139ENST00000508399D6RHU8
ENSG00000112139ENST00000515437D6RFG6
ENSG00000112139ENST00000650466A0A3B3IU48

Expression (GTEx)

0
50
100
150
200
250
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

Pathways

PathwaySourceExternal ID
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Post-translational modification: synthesis of GPI-anchored proteinsREACTOMER-HSA-163125

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
183840592008Association analysis of schizophrenia on 18 genes involved in neuronal migration: MDGA1 as a new susceptibility gene.44
183840592008Association analysis of schizophrenia on 18 genes involved in neuronal migration: MDGA1 as a new susceptibility gene.44
286411122017Molecular Mechanism of MDGA1: Regulation of Neuroligin 2:Neurexin Trans-synaptic Bridges.11
120825412002Genomic organization of a novel glycosylphosphatidylinositol MAM gene expressed in human tissues and tumors.0
159227292005Characterization of MDGA1, a novel human glycosylphosphatidylinositol-anchored protein localized in lipid rafts.0
200362972009WITHDRAWN: Common polymorphisms in the MDGA1 gene are associated with bipolar disorder and schizophrenia in the Chinese Han population.0
211469592011The MDGA1 gene confers risk to schizophrenia and bipolar disorder.0

Citation

Dessen P

MDGA1 (MAM domain containing glycosylphosphatidylinositol anchor 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54447/mdga1