Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
65117
Gene name Gene Name - the full gene name approved by the HGNC.
Arginine and serine rich coiled-coil 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RSRC2
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q24.31
SNPs SNP information provided by dbSNP.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
619996 30559 ENSG00000111011
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
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.
Disease merge term Disease name Evidence References Source
Neurodevelopmental Disorders complex neurodevelopmental disorder N/A N/A GenCC
Neuroticism Neuroticism N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Metabolism Inborn Errors Associate 30013183
Neoplasms Inhibit 21036922
Neuroblastoma Associate 20444257