BEGAIN (brain enriched guanylate kinase associated)

2014-11-01  

Identity

HGNC
BEGAIN
LOCATION
14q32.2
LOCUSID
57596
ALIAS
-
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 57596
MIM: 618597
HGNC: 24163
Ensembl: ENSG00000183092

Variants:

dbSNP: 57596
ClinVar: 57596
TCGA: ENSG00000183092
COSMIC: BEGAIN

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000183092ENST00000355173Q9BUH8
ENSG00000183092ENST00000443071Q9BUH8
ENSG00000183092ENST00000553553G3V3S3
ENSG00000183092ENST00000554140G3V3A2
ENSG00000183092ENST00000554356G3V600
ENSG00000183092ENST00000556188G3V536
ENSG00000183092ENST00000557378G3V2K4
ENSG00000183092ENST00000637646A0A1B0GTT1
ENSG00000183092ENST00000637716A0A1B0GVM0

Expression (GTEx)

0
10
20
30
40
50
60
70
80
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

References

Pubmed IDYearTitleCitations
380194712023Effects of paternal and chronological age on BEGAIN methylation and its possible role in autism.0
380194712023Effects of paternal and chronological age on BEGAIN methylation and its possible role in autism.0
269621522016Genome-wide association study of biologically informed periodontal complex traits offers novel insights into the genetic basis of periodontal disease.59
269621522016Genome-wide association study of biologically informed periodontal complex traits offers novel insights into the genetic basis of periodontal disease.59
246629272015Astrocytic abnormalities and global DNA methylation patterns in depression and suicide.138
246629272015Astrocytic abnormalities and global DNA methylation patterns in depression and suicide.138

Citation

Dessen P

BEGAIN (brain enriched guanylate kinase associated)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60733/begain-(brain-enriched-guanylate-kinase-associated)