Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	49855
Gene name Gene Name - the full gene name approved by the HGNC.	S-phase cyclin A associated protein in the ER
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	SCAPER
Synonyms (NCBI Gene) Gene synonyms aliases	IDDRP, MSTP063, ZNF291, Zfp291
Chromosome Chromosome number	15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	15q24.3

Show/Hide all(16)

SNP ID	Visualize variation	Clinical significance	Consequence
rs777893794	G>A	Likely-pathogenic	Stop gained, genic upstream transcript variant, coding sequence variant, non coding transcript variant
rs978336151	G>A,T	Likely-pathogenic	Non coding transcript variant, synonymous variant, coding sequence variant, stop gained
rs1239725461	G>A	Likely-pathogenic, pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1303625185	GA>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant, non coding transcript variant
rs1305542291	C>T	Likely-pathogenic, pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs1395475624	CTT>-	Likely-pathogenic, pathogenic	Non coding transcript variant, coding sequence variant, genic upstream transcript variant, inframe deletion
rs1462082548	T>-,TT	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1484749107	G>A,C	Likely-pathogenic	Stop gained, coding sequence variant, missense variant, non coding transcript variant, 5 prime UTR variant, genic upstream transcript variant
rs1555447569	ATTG>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, frameshift variant
rs1555558169	T>C	Pathogenic	Splice acceptor variant
rs1567499068	G>-	Pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, stop gained
rs1596596355	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant, downstream transcript variant, non coding transcript variant
rs1597752941	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant, non coding transcript variant
rs1598279469	G>C	Likely-pathogenic	Intron variant
rs1598598205	C>T	Likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs1598632432	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant, non coding transcript variant

Show/Hide all(4)

miRTarBase ID	miRNA	Experiments	Reference
MIRT439702	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT439702	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT1328386	hsa-miR-3671	CLIP-seq
MIRT1328387	hsa-miR-888	CLIP-seq

Show/Hide all(17)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001541	Process	Ovarian follicle development	IEA
GO:0001547	Process	Antral ovarian follicle growth	IEA
GO:0003676	Function	Nucleic acid binding	IEA
GO:0005515	Function	Protein binding	IPI	17698606, 32814053
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005829	Component	Cytosol	IDA
GO:0007283	Process	Spermatogenesis	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0016607	Component	Nuclear speck	IDA
GO:0046872	Function	Metal ion binding	IEA
GO:0060041	Process	Retina development in camera-type eye	IMP	28794130
GO:0061827	Component	Sperm head	IEA
GO:0072520	Process	Seminiferous tubule development	IEA
GO:1990917	Component	Ooplasm	IEA

MIM	HGNC	e!Ensembl
611611	13081	ENSG00000140386

Protein

UniProt ID

Q9BY12

Protein name

S phase cyclin A-associated protein in the endoplasmic reticulum (S phase cyclin A-associated protein in the ER) (Zinc finger protein 291)

Protein function

CCNA2/CDK2 regulatory protein that transiently maintains CCNA2 in the cytoplasm.

PDB

8BPO

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF16501	SCAPER_N	89 → 186	S phase cyclin A-associated protein in the endoplasmic reticulum	Family
PF12874	zf-met	792 → 816		Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed with high expression in testis. Isoform 1 is detected in various tissues, including retina, fetal and adult brain. Isoform 2 is expressed in the retina at high levels, and in the brain at very low levels (PubMed:287941

Sequence

MMASFQRSNSHDKVRRIVAEEGRTARNLIAWSVPLESKDDDGKPKCQTGGKSKRTIQGTH
KTTKQSTAVDCKITSSTTGDKHFDKSPTKTRHPRKIDLRARYWAFLFDNLRRAVDEIYVT
CESDQSVVECKEVLMMLDNYVRDFKALIDWIQLQEKLEKTDAQSRPTSLAWEVKKMSPGR
HVIPSPSTDRINVTSNARRSLNFGGSTGTVPAPRLAPTGVSWADKVKAHHTGSTASSEIT
PAQSCPPMTVQKASRKNERKDAEGWETVQRGRPIRSRSTAVMPKVSLATEATRSKDDSDK
ENVCLLPDESIQKGQFVGDGTSNTIESHPKDSLHSCDHPLAEKTQFTVSTLDDVKNSGSI
RDNYVRTSEISAVHIDTECVSVMLQAGTPPLQVNEEKFPAEKARIENEMDPSDISNSMAE
VLAKKEELADRLEKANEEAIASAIAEEEQLTREIEAEENNDINIETDNDSDFSASMGSGS
VSFCGMSMDWNDVLADYEARESWRQNTSWGDIVEEEPARPPGHGIHMHEKLSSPSRKRTI
AESKKKHEEKQMKAQQLREKLREEKTLKLQKLLEREKDVRKWKEELLDQRRRMMEEKLLH
AEFKREVQLQAIVKKAQEEEAKVNEIAFINTLEAQNKRHDVLSKLKEYEQRLNELQEERQ
RRQEEKQARDEAVQERKRALEAERQARVEELLMKRKEQEARIEQQRQEKEKAREDAARER
ARDREERLAALTAAQQEAMEELQKKIQLKHDESIRRHMEQIEQRKEKAAELSSGRHANTD
YAPKLTPYERKKQCSLCNVLISSEVYLFSHVKGRKHQQAVRENTSIQGRELSDEEVEHLS
LKKYIIDIVVESTAPAEALKDGEERQKNKKKAKKIKARMNFRAKEYESLMETKNSGSDSP
YKAKLQRLAKDLLKQVQVQDSGSWANNKVSALDRTLGEITRILEKENVADQIAFQAAGGL
TALEHILQAVVPATNVNTVLRIPPKSLCNAINVYNLTCNNCSENCSDVLFSNKITFLMDL
LIHQLTVYVPDENNTILGRNTNKQVFEGLTTGLLKVSAVVLGCLIANRPDGNCQPATPKI
PTQEMKNKPSQGDPFNNRVQDLISYVVNMGLIDKLCACFLSVQGPVDENPKMAIFLQHAA
GLLHAMCTLCFAVTGRSYSIFDNNRQDPTGLTAALQATDLAGVLHMLYCVLFHGTILDPS
TASPKENYTQNTIQVAIQSLRFFNSFAALHLPAFQSIVGAEGLSLAFRHMASSLLGHCSQ
VSCESLLHEVIVCVGYFTVNHPDNQVIVQSGRHPTVLQKLCQLPFQYFSDPRLIKVLFPS
LIAACYNNHQNKIILEQEMSCVLLATFIQDLAQTPGQAENQPYQPKGKCLGSQDYLELAN
RFPQQAWEEARQFFLKKEKK

Sequence length

1400

Interactions

View interactions

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Retinitis Pigmentosa	retinitis pigmentosa, Syndromic retinitis pigmentosa	rs1555558169	N/A

Show/Hide Unknown Diseases (4)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Bardet-Biedl Syndrome	Bardet-Biedl syndrome	N/A	N/A	GenCC
Gout	Gout	N/A	N/A	GWAS
Intellectual Developmental Disorder And Retinitis Pigmentosa	intellectual developmental disorder and retinitis pigmentosa; IDDRP	N/A	N/A	GenCC
Schizophrenia	Schizophrenia	N/A	N/A	GWAS

Show/Hide Text Mining Associations (6)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Attention Deficit Disorder with Hyperactivity	Associate	30561111
Intellectual Disability	Associate	30561111, 37295431
Macular Degeneration	Associate	19412524
Pigmentation Disorders	Associate	31437301
Retinitis Pigmentosa	Associate	30561111, 37295431
RHYNS syndrome	Associate	30561111

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