Gene Gene information from NCBI Gene database.
Entrez ID 65117
Gene name Arginine and serine rich coiled-coil 2
Gene symbol RSRC2
Synonyms (NCBI Gene)
-
Chromosome 12
Chromosome location 12q24.31
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs752134549 C>T Likely-pathogenic Missense variant, non coding transcript variant, 5 prime UTR variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
219
miRTarBase ID miRNA Experiments Reference
MIRT021137 hsa-miR-186-5p Sequencing 20371350
MIRT023747 hsa-miR-1-3p Proteomics;Microarray 18668037
MIRT029387 hsa-miR-26b-5p Sequencing 20371350
MIRT048096 hsa-miR-197-3p CLASH 23622248
MIRT572970 hsa-miR-1228-3p PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
2
GO ID Ontology Definition Evidence Reference
GO:0003723 Function RNA binding HDA 22681889
GO:0005515 Function Protein binding IPI 23602568, 25416956, 32296183, 33961781
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
619996 30559 ENSG00000111011
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q7L4I2
Protein name Arginine/serine-rich coiled-coil protein 2
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15477 SMAP 354 423 Small acidic protein family Family
Sequence
MAASDTERDGLAPEKTSPDRDKKKEQSEVSVSPRASKHHYSRSRSRSRERKRKSDNEGRK
HRSRSRSKEGRRHESKDKSSKKHKSEEHNDKEHSSDKGRERLNSSENGEDRHKRKERKSS
RGRSHSRSRSRERRHRSRSRERKKSRSRSRERKKSRSRSRERKKSRSRSRERKRRIRSRS
RSRSRHRHRTRSRSRTRSRSRDRKKRIEKPRRFSRSLSRTPSPPPFRGRNTAMDAQEALA
RRLERAKKLQEQREKEMVEKQKQQEIAAAAATGGSVLNVAALLASGTQVTPQIAMAAQMA
ALQAKALAETGIAVPSYYNPAAVNPMKFAEQEKKRKMLWQGKKEGDKSQSAEIWEKLNFG
NKDQNVKFRKLMGIKSEDEAGCSSVDEESYKTLKQQEEVFRNLDAQYEMARSQTHTQRGM
GLG
FTSSMRGMDAV
Sequence length 434
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
RSRC2-related disorder Uncertain significance rs2547268877 RCV003982627
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Metabolism Inborn Errors Associate 30013183
Neoplasms Inhibit 21036922
Neuroblastoma Associate 20444257