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

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
Disease Acronyms (UniProt) Disease acronyms from UniProt database
IDDRP
Chromosome Chromosome number
15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q24.3
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
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
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
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
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(7)
GO ID Ontology Definition Evidence Reference
GO:0003676 Function Nucleic acid binding IEA
GO:0005515 Function Protein binding IPI 17698606
GO:0005654 Component Nucleoplasm IDA
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005829 Component Cytosol IDA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
611611 13081 ENSG00000140386
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
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
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (16)
Causal
Disease term Disease name dbSNP ID References
Attention deficit hyperactivity disorder Attention deficit hyperactivity disorder rs786205019 28794130
Brachydactyly Brachydactyly rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852
View all (22 more)		 30723319
Cataract Cataract, Nuclear cataract rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322
View all (150 more)
Diabetes mellitus Diabetes Mellitus, Non-Insulin-Dependent rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237
View all (293 more)
Show/Hide Unknown Diseases (5)
Unknown
Disease term Disease name Evidence References Source
Intellectual Developmental Disorder And Retinitis Pigmentosa intellectual developmental disorder and retinitis pigmentosa; IDDRP GenCC
Retinitis Pigmentosa retinitis pigmentosa GenCC
Bardet-Biedl Syndrome Bardet-Biedl syndrome GenCC
Schizophrenia Schizophrenia GWAS
Show/Hide Text Mining Associations (6)
Associations from Text Mining
Disease Name Relationship Type References
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