DLG2 (discs large MAGUK scaffold protein 2)

2014-11-01  

Identity

HGNC
DLG2
LOCATION
11q14.1
LOCUSID
1740
ALIAS
PPP1R58,PSD-93,PSD93,chapsyn-110
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 1740
MIM: 603583
HGNC: 2901
Ensembl: ENSG00000150672

Variants:

dbSNP: 1740
ClinVar: 1740
TCGA: ENSG00000150672
COSMIC: DLG2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000150672ENST00000280241Q15700
ENSG00000150672ENST00000330014F8VYC1
ENSG00000150672ENST00000376104Q15700
ENSG00000150672ENST00000398299A8MUT9
ENSG00000150672ENST00000398301Q6ZSU2
ENSG00000150672ENST00000398304A8MVA8
ENSG00000150672ENST00000398309Q15700
ENSG00000150672ENST00000404783B5MCC5
ENSG00000150672ENST00000418306Q15700
ENSG00000150672ENST00000420775F8W750
ENSG00000150672ENST00000426717Q15700
ENSG00000150672ENST00000434967C9JFF9
ENSG00000150672ENST00000457267H7C325
ENSG00000150672ENST00000472545A0A3B3ITF4
ENSG00000150672ENST00000524601E9PRL2
ENSG00000150672ENST00000524982E9PN83
ENSG00000150672ENST00000527088E9PIJ9
ENSG00000150672ENST00000529399E9PQT9
ENSG00000150672ENST00000529401E9PRX3
ENSG00000150672ENST00000530800E9PPV7
ENSG00000150672ENST00000531015E9PIW2
ENSG00000150672ENST00000532653B7Z2T4
ENSG00000150672ENST00000648622A0A3B3ISW2
ENSG00000150672ENST00000650630A0A3B3ITF1

Expression (GTEx)

0
5
10
15
20
25
30
35
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

Pathways

PathwaySourceExternal ID
Tight junctionKEGGko04530
Tight junctionKEGGhsa04530
Hippo signaling pathwayKEGGhsa04390
Hippo signaling pathwayKEGGko04390
Neuronal SystemREACTOMER-HSA-112316
Protein-protein interactions at synapsesREACTOMER-HSA-6794362
Interactions of neurexins and neuroligins at synapsesREACTOMER-HSA-6794361

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
378609692024DLG2 intragenic exonic deletions reinforce the link to neurodevelopmental disorders and suggest a potential association with congenital anomalies and dysmorphism.0
382340422024Glioma stem cell-derived exosomes induce the transformation of astrocytes via the miR-3065-5p/DLG2 signaling axis.3
378609692024DLG2 intragenic exonic deletions reinforce the link to neurodevelopmental disorders and suggest a potential association with congenital anomalies and dysmorphism.0
382340422024Glioma stem cell-derived exosomes induce the transformation of astrocytes via the miR-3065-5p/DLG2 signaling axis.3
350316072022Transcriptional programs regulating neuronal differentiation are disrupted in DLG2 knockout human embryonic stem cells and enriched for schizophrenia and related disorders risk variants.8
352174962022DLG2 impairs dsDNA break repair and maintains genome integrity in neuroblastoma.2
352466342022Region-based analysis of rare genomic variants in whole-genome sequencing datasets reveal two novel Alzheimer's disease-associated genes: DTNB and DLG2.9
356272442022Enhancing DLG2 Implications in Neuropsychiatric Disorders: Analysis of a Cohort of Eight Patients with 11q14.1 Imbalances.3
350316072022Transcriptional programs regulating neuronal differentiation are disrupted in DLG2 knockout human embryonic stem cells and enriched for schizophrenia and related disorders risk variants.8
352174962022DLG2 impairs dsDNA break repair and maintains genome integrity in neuroblastoma.2
352466342022Region-based analysis of rare genomic variants in whole-genome sequencing datasets reveal two novel Alzheimer's disease-associated genes: DTNB and DLG2.9
356272442022Enhancing DLG2 Implications in Neuropsychiatric Disorders: Analysis of a Cohort of Eight Patients with 11q14.1 Imbalances.3
346958222021DLG2 Mutations in the Etiology of Pubertal Delay and Idiopathic Hypogonadotropic Hypogonadism.2
346958222021DLG2 Mutations in the Etiology of Pubertal Delay and Idiopathic Hypogonadotropic Hypogonadism.2
323122692020Low DLG2 gene expression, a link between 11q-deleted and MYCN-amplified neuroblastoma, causes forced cell cycle progression, and predicts poor patient survival.9

Citation

Dessen P

DLG2 (discs large MAGUK scaffold protein 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62515/js/lib/img/haematological-explorer/