SCAPER (S-phase cyclin A associated protein in the ER)

2014-11-01  

Identity

HGNC
SCAPER
LOCATION
15q24.3
LOCUSID
49855
ALIAS
IDDRP,MSTP063,ZNF291,Zfp291
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 49855
MIM: 611611
HGNC: 13081
Ensembl: ENSG00000140386

Variants:

dbSNP: 49855
ClinVar: 49855
TCGA: ENSG00000140386
COSMIC: SCAPER

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000140386ENST00000324767Q9BY12
ENSG00000140386ENST00000538941Q9BY12
ENSG00000140386ENST00000563290Q9BY12
ENSG00000140386ENST00000563919H3BPB0
ENSG00000140386ENST00000564022H3BT27
ENSG00000140386ENST00000564177H3BTY2
ENSG00000140386ENST00000564590H3BS25
ENSG00000140386ENST00000564757H3BTL8
ENSG00000140386ENST00000565372H3BQF3
ENSG00000140386ENST00000565507H3BQ61
ENSG00000140386ENST00000565970H3BPM0
ENSG00000140386ENST00000568382H3BR40
ENSG00000140386ENST00000568549H3BU24

Expression (GTEx)

0
5
10
15
20
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
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
176986062007SCAPER, a novel cyclin A-interacting protein that regulates cell cycle progression.24
182459512008Double identity of SCAPER: a substrate and regulator of cyclin A/Cdk2.5
307233192019SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome.3
175536652007Detection of an unstable non-coding tandem repeat in the ZNF291 gene.1
305611112019SCAPER-associated nonsyndromic autosomal recessive retinitis pigmentosa.1
310699012019Homozygous variants in the gene SCAPER cause syndromic intellectual disability.0

Citation

Dessen P

SCAPER (S-phase cyclin A associated protein in the ER)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/73001/scaper