MAMDC4 (MAM domain containing 4)

2014-11-01  

Identity

HGNC
MAMDC4
LOCATION
9q34.3
LOCUSID
158056
ALIAS
AEGP,EDTB

Other Information

Locus ID:

NCBI: 158056
MIM: 617208
HGNC: 24083
Ensembl: ENSG00000177943

Variants:

dbSNP: 158056
ClinVar: 158056
TCGA: ENSG00000177943
COSMIC: MAMDC4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000177943ENST00000317446Q6UXC1
ENSG00000177943ENST00000445819Q6UXC1
ENSG00000177943ENST00000479475A0A0C4DGF7

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
100
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
78294881995Molecular characterization of an apical early endosomal glycoprotein from developing rat intestinal epithelial cells.4
259561572016Private rare deletions in SEC16A and MAMDC4 may represent novel pathogenic variants in familial axial spondyloarthritis.4

Citation

Dessen P

MAMDC4 (MAM domain containing 4)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/68772/mamdc4