RAPSN (receptor associated protein of the synapse)

2018-02-01  

Identity

HGNC
RAPSN
LOCATION
11p11.2
LOCUSID
5913
ALIAS
CMS11,CMS4C,FADS,FADS2,RAPSYN,RNF205

Other Information

Locus ID:

NCBI: 5913
MIM: 601592
HGNC: 9863
Ensembl: ENSG00000165917

Variants:

dbSNP: 5913
ClinVar: 5913
TCGA: ENSG00000165917
COSMIC: RAPSN

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000165917ENST00000298854Q13702
ENSG00000165917ENST00000298854A0A0S2Z4F8
ENSG00000165917ENST00000352508Q13702
ENSG00000165917ENST00000352508A0A0S2Z4M9
ENSG00000165917ENST00000524487E9PJP9
ENSG00000165917ENST00000529341E9PK11

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
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
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
368154432023The role of Rapsyn in neuromuscular junction and congenital myasthenic syndrome.0
376467032023Delineation of molecular characteristics of congenital myasthenic syndromes in Indian families and review of literature.0
368154432023The role of Rapsyn in neuromuscular junction and congenital myasthenic syndrome.0
376467032023Delineation of molecular characteristics of congenital myasthenic syndromes in Indian families and review of literature.0
339587112021The association between RAPSN methylation in peripheral blood and breast cancer in the Chinese population.4
340337542021Membraneless condensates by Rapsn phase separation as a platform for neuromuscular junction formation.8
339587112021The association between RAPSN methylation in peripheral blood and breast cancer in the Chinese population.4
340337542021Membraneless condensates by Rapsn phase separation as a platform for neuromuscular junction formation.8
315499612019A mechanism in agrin signaling revealed by a prevalent Rapsyn mutation in congenital myasthenic syndrome.12
315499612019A mechanism in agrin signaling revealed by a prevalent Rapsyn mutation in congenital myasthenic syndrome.12
280248422017Congenital myasthenic syndrome in Israel: Genetic and clinical characterization.17
284952452017Massive parallel sequencing identifies RAPSN and PDHA1 mutations causing fetal akinesia deformation sequence.8
280248422017Congenital myasthenic syndrome in Israel: Genetic and clinical characterization.17
284952452017Massive parallel sequencing identifies RAPSN and PDHA1 mutations causing fetal akinesia deformation sequence.8
275770812016DNA methylation array analysis identifies breast cancer associated RPTOR, MGRN1 and RAPSN hypomethylation in peripheral blood DNA.18

Citation

Dessen P

RAPSN (receptor associated protein of the synapse)

Atlas Genet Cytogenet Oncol Haematol. 2018-02-01

Online version: http://atlasgeneticsoncology.org/gene/57297/js/lib/meetings/favicon/manifest.json