DMXL2 (Dmx like 2)

2014-08-01  

Identity

HGNC
DMXL2
LOCATION
15q21.2
LOCUSID
23312
ALIAS
DEE81,DFNA71,EIEE81,PEPNS,RC3
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 23312
MIM: 612186
HGNC: 2938
Ensembl: ENSG00000104093

Variants:

dbSNP: 23312
ClinVar: 23312
TCGA: ENSG00000104093
COSMIC: DMXL2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000104093ENST00000251076Q8TDJ6
ENSG00000104093ENST00000251076A0A024R5V2
ENSG00000104093ENST00000449909Q8TDJ6
ENSG00000104093ENST00000543779Q8TDJ6
ENSG00000104093ENST00000559059H0YME1
ENSG00000104093ENST00000559498H0YM41
ENSG00000104093ENST00000560891H0YLM8

Expression (GTEx)

0
5
10
15
20
25
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
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
179751192008Association of gene variants with incident myocardial infarction in the Cardiovascular Health Study.65
208106602010Rabconnectin-3 is a functional regulator of mammalian Notch signaling.31
190230992009Gene variants associated with ischemic stroke: the cardiovascular health study.16
252480982014Haploinsufficiency of Dmxl2, encoding a synaptic protein, causes infertility associated with a loss of GnRH neurons in mouse.16
260930852015DMXL2 drives epithelial to mesenchymal transition in hormonal therapy resistant breast cancer through Notch hyper-activation.9
276576802017A dominant variant in DMXL2 is linked to nonsyndromic hearing loss.8
316889422019Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course.1

Citation

Dessen P

DMXL2 (Dmx like 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54258/dmxl2