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

2014-11-01  

Identity

HGNC
LOCATION
15q24.3
LOCUSID
ALIAS
IDDRP,MSTP063,ZNF291,Zfp291
FUSION GENES

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

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
325279562021Absence of SCAPER causes male infertility in humans and Drosophila by modulating microtubule dynamics during meiosis.6
325279562021Absence of SCAPER causes male infertility in humans and Drosophila by modulating microtubule dynamics during meiosis.6
325105602020Male sterility and reduced female fertility in SCAPER-deficient mice.3
325105602020Male sterility and reduced female fertility in SCAPER-deficient mice.3
305611112019SCAPER-associated nonsyndromic autosomal recessive retinitis pigmentosa.9
307233192019SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome.21
310699012019Homozygous variants in the gene SCAPER cause syndromic intellectual disability.7
311925312019Delineating the expanding phenotype associated with SCAPER gene mutation.8
305611112019SCAPER-associated nonsyndromic autosomal recessive retinitis pigmentosa.9
307233192019SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome.21
310699012019Homozygous variants in the gene SCAPER cause syndromic intellectual disability.7
311925312019Delineating the expanding phenotype associated with SCAPER gene mutation.8
182459512008Double identity of SCAPER: a substrate and regulator of cyclin A/Cdk2.7
182459512008Double identity of SCAPER: a substrate and regulator of cyclin A/Cdk2.7
175536652007Detection of an unstable non-coding tandem repeat in the ZNF291 gene.1

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/css/teaching-explorer/gene-explorer/