MAST2 (microtubule associated serine/threonine kinase 2)

2012-02-01 Affiliation

Identity

HGNC

MAST2

LOCATION

1p34.1

LOCUSID

23139

ALIAS

MAST205,MTSSK

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 23139
MIM: 612257
HGNC: 19035
Ensembl: ENSG00000086015

Variants:

dbSNP: 23139
ClinVar: 23139
TCGA: ENSG00000086015
COSMIC: MAST2

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000086015	ENST00000361297	Q6P0Q8
ENSG00000086015	ENST00000372008	V9GXZ1
ENSG00000086015	ENST00000372009	E7ERL6

Expression (GTEx)

100

150

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

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
33465109	2021	A rare coding mutation in the MAST2 gene causes venous thrombosis in a French family with unexplained thrombophilia: The Breizh MAST2 Arg89Gln variant.	3
33465109	2021	A rare coding mutation in the MAST2 gene causes venous thrombosis in a French family with unexplained thrombophilia: The Breizh MAST2 Arg89Gln variant.	3
32198973	2020	MAST1 variant causes mega-corpus-callosum syndrome with cortical malformations but without cerebellar hypoplasia.	7
32198973	2020	MAST1 variant causes mega-corpus-callosum syndrome with cortical malformations but without cerebellar hypoplasia.	7
31882722	2019	High MAST2 mRNA expression and its role in diagnosis and prognosis of liver cancer.	8
31882722	2019	High MAST2 mRNA expression and its role in diagnosis and prognosis of liver cancer.	8
25942057	2015	Deciphering the unconventional peptide binding to the PDZ domain of MAST2.	9
26203179	2015	A Screen for Genomic Disorders of Infertility Identifies MAST2 Duplications Associated with Nonobstructive Azoospermia in Humans.	15
25942057	2015	Deciphering the unconventional peptide binding to the PDZ domain of MAST2.	9
26203179	2015	A Screen for Genomic Disorders of Infertility Identifies MAST2 Duplications Associated with Nonobstructive Azoospermia in Humans.	15
23504457	2013	MAST205 competes with cystic fibrosis transmembrane conductance regulator (CFTR)-associated ligand for binding to CFTR to regulate CFTR-mediated fluid transport.	12
24140425	2013	MAST2 and NOTCH1 translocations in breast carcinoma and associated pre-invasive lesions.	9
23504457	2013	MAST205 competes with cystic fibrosis transmembrane conductance regulator (CFTR)-associated ligand for binding to CFTR to regulate CFTR-mediated fluid transport.	12
24140425	2013	MAST2 and NOTCH1 translocations in breast carcinoma and associated pre-invasive lesions.	9
22609064	2012	Transcriptional regulation of human-specific SVAF₁ retrotransposons by cis-regulatory MAST2 sequences.	17

Citation

Dessen P

MAST2 (microtubule associated serine/threonine kinase 2)

Atlas Genet Cytogenet Oncol Haematol. 2012-02-01

Online version: http://atlasgeneticsoncology.org/gene/52599/meetings/css/favicon/manifest.json