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

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

2014-11-01 Affiliation

Identity

HGNC

LOCATION

15q24.3

LOCUSID

ALIAS

IDDRP,MSTP063,ZNF291,Zfp291

FUSION GENES

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Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000140386	ENST00000324767	Q9BY12
ENSG00000140386	ENST00000538941	Q9BY12
ENSG00000140386	ENST00000563290	Q9BY12
ENSG00000140386	ENST00000563919	H3BPB0
ENSG00000140386	ENST00000564022	H3BT27
ENSG00000140386	ENST00000564177	H3BTY2
ENSG00000140386	ENST00000564590	H3BS25
ENSG00000140386	ENST00000564757	H3BTL8
ENSG00000140386	ENST00000565372	H3BQF3
ENSG00000140386	ENST00000565507	H3BQ61
ENSG00000140386	ENST00000565970	H3BPM0
ENSG00000140386	ENST00000568382	H3BR40
ENSG00000140386	ENST00000568549	H3BU24

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

References

Pubmed ID	Year	Title	Citations
32527956	2021	Absence of SCAPER causes male infertility in humans and Drosophila by modulating microtubule dynamics during meiosis.	6
32527956	2021	Absence of SCAPER causes male infertility in humans and Drosophila by modulating microtubule dynamics during meiosis.	6
32510560	2020	Male sterility and reduced female fertility in SCAPER-deficient mice.	3
32510560	2020	Male sterility and reduced female fertility in SCAPER-deficient mice.	3
30561111	2019	SCAPER-associated nonsyndromic autosomal recessive retinitis pigmentosa.	9
30723319	2019	SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome.	21
31069901	2019	Homozygous variants in the gene SCAPER cause syndromic intellectual disability.	7
31192531	2019	Delineating the expanding phenotype associated with SCAPER gene mutation.	8
30561111	2019	SCAPER-associated nonsyndromic autosomal recessive retinitis pigmentosa.	9
30723319	2019	SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome.	21
31069901	2019	Homozygous variants in the gene SCAPER cause syndromic intellectual disability.	7
31192531	2019	Delineating the expanding phenotype associated with SCAPER gene mutation.	8
18245951	2008	Double identity of SCAPER: a substrate and regulator of cyclin A/Cdk2.	7
18245951	2008	Double identity of SCAPER: a substrate and regulator of cyclin A/Cdk2.	7
17553665	2007	Detection 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/js/web-card-_common.js