MEI1 (meiotic double-stranded break formation protein 1)

2014-11-01  

Identity

HGNC
MEI1
LOCATION
22q13.2
LOCUSID
150365
ALIAS
HYDM3,SPATA38
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 150365
MIM: 608797
HGNC: 28613
Ensembl: ENSG00000167077

Variants:

dbSNP: 150365
ClinVar: 150365
TCGA: ENSG00000167077
COSMIC: MEI1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000167077ENST00000401548Q5TIA1
ENSG00000167077ENST00000403492Q5TIA1
ENSG00000167077ENST00000423900H0Y787
ENSG00000167077ENST00000540833F5GZT0

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
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
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
384162032024Novel MEI1 mutations cause chromosomal and DNA methylation abnormalities leading to embryonic arrest and implantation failure.0
384162032024Novel MEI1 mutations cause chromosomal and DNA methylation abnormalities leading to embryonic arrest and implantation failure.0
367597192023Bi-allelic MEI1 variants cause meiosis arrest and non-obstructive azoospermia.2
367597192023Bi-allelic MEI1 variants cause meiosis arrest and non-obstructive azoospermia.2
340377562021Novel biallelic mutations in MEI1: expanding the phenotypic spectrum to human embryonic arrest and recurrent implantation failure.6
340377562021Novel biallelic mutations in MEI1: expanding the phenotypic spectrum to human embryonic arrest and recurrent implantation failure.6
296598272018A MEI1 homozygous missense mutation associated with meiotic arrest in a consanguineous family.21
296598272018A MEI1 homozygous missense mutation associated with meiotic arrest in a consanguineous family.21
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
166830552006Polymorphic alleles of the human MEI1 gene are associated with human azoospermia by meiotic arrest.22
166830552006Polymorphic alleles of the human MEI1 gene are associated with human azoospermia by meiotic arrest.22

Citation

Dessen P

MEI1 (meiotic double-stranded break formation protein 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/68897/mei1-(meiotic-double-stranded-break-formation-protein-1)