DMXL2 (Dmx like 2)

2014-08-01 Affiliation

Identity

HGNC

DMXL2

LOCATION

15q21.2

LOCUSID

23312

ALIAS

DEE81,DFNA71,EIEE81,PEPNS,RC3

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: 23312
MIM: 612186
HGNC: 2938
Ensembl: ENSG00000104093

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000104093	ENST00000251076	Q8TDJ6
ENSG00000104093	ENST00000251076	A0A024R5V2
ENSG00000104093	ENST00000449909	Q8TDJ6
ENSG00000104093	ENST00000543779	Q8TDJ6
ENSG00000104093	ENST00000559059	H0YME1
ENSG00000104093	ENST00000559498	H0YM41
ENSG00000104093	ENST00000560891	H0YLM8

Expression (GTEx)

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
33715530	2021	A novel variant in DMXL2 gene is associated with autosomal dominant non-syndromic hearing impairment (DFNA71) in a Cameroonian family.	6
33715530	2021	A novel variant in DMXL2 gene is associated with autosomal dominant non-syndromic hearing impairment (DFNA71) in a Cameroonian family.	6
30732576	2019	Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disorders.	3
31688942	2019	Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course.	18
30732576	2019	Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disorders.	3
31688942	2019	Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course.	18
27657680	2017	A dominant variant in DMXL2 is linked to nonsyndromic hearing loss.	21
27657680	2017	A dominant variant in DMXL2 is linked to nonsyndromic hearing loss.	21
26093085	2015	DMXL2 drives epithelial to mesenchymal transition in hormonal therapy resistant breast cancer through Notch hyper-activation.	17
26093085	2015	DMXL2 drives epithelial to mesenchymal transition in hormonal therapy resistant breast cancer through Notch hyper-activation.	17
25248098	2014	Haploinsufficiency of Dmxl2, encoding a synaptic protein, causes infertility associated with a loss of GnRH neurons in mouse.	34
25248098	2014	Haploinsufficiency of Dmxl2, encoding a synaptic protein, causes infertility associated with a loss of GnRH neurons in mouse.	34
20810660	2010	Rabconnectin-3 is a functional regulator of mammalian Notch signaling.	42
20810660	2010	Rabconnectin-3 is a functional regulator of mammalian Notch signaling.	42
19023099	2009	Gene variants associated with ischemic stroke: the cardiovascular health study.	20

Citation

Dessen P

DMXL2 (Dmx like 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54258/haematological-explorer/img/logo-atlas-4.svg