DLGAP4 (DLG associated protein 4)

2014-08-01  

Identity

HGNC
DLGAP4
LOCATION
20q11.23
LOCUSID
22839
ALIAS
DAP-4,DAP4,DLP4,SAPAP-4,SAPAP4
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 22839
MIM: 616191
HGNC: 24476
Ensembl: ENSG00000080845

Variants:

dbSNP: 22839
ClinVar: 22839
TCGA: ENSG00000080845
COSMIC: DLGAP4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000080845ENST00000339266Q9Y2H0
ENSG00000080845ENST00000340491Q9Y2H0
ENSG00000080845ENST00000373907Q9Y2H0
ENSG00000080845ENST00000373913Q9Y2H0
ENSG00000080845ENST00000401952Q9Y2H0
ENSG00000080845ENST00000475894A0A0B4J2C2
ENSG00000080845ENST00000482872A0A087WWE6
ENSG00000080845ENST00000489701F8WF49
ENSG00000080845ENST00000495241A0A087X246

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
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
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
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
91152571997SAPAPs. A family of PSD-95/SAP90-associated proteins localized at postsynaptic density.109
190860532009Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment.34
105214851999nArgBP2, a novel neural member of ponsin/ArgBP2/vinexin family that interacts with synapse-associated protein 90/postsynaptic density-95-associated protein (SAPAP).23
249869222014Epigenetic remodelling and dysregulation of DLGAP4 is linked with early-onset cerebellar ataxia.8

Citation

Dessen P

DLGAP4 (DLG associated protein 4)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54256/dlgap4