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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	65117
Gene name	Arginine and serine rich coiled-coil 2
Gene symbol	RSRC2
Synonyms (NCBI Gene)	-
Chromosome	12
Chromosome location	12q24.31

Show/Hide all (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

219

Show/Hide all (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
MIRT572971	hsa-miR-6884-3p	PAR-CLIP	20371350
MIRT572970	hsa-miR-1228-3p	PAR-CLIP	20371350
MIRT572971	hsa-miR-6884-3p	PAR-CLIP	20371350
MIRT468828	hsa-miR-490-3p	PAR-CLIP	20371350
MIRT468827	hsa-miR-649	PAR-CLIP	20371350
MIRT468826	hsa-miR-6838-3p	PAR-CLIP	20371350
MIRT468825	hsa-miR-6748-3p	PAR-CLIP	20371350
MIRT468824	hsa-miR-4421	PAR-CLIP	20371350
MIRT468823	hsa-miR-5699-3p	PAR-CLIP	20371350
MIRT468820	hsa-miR-4795-5p	PAR-CLIP	20371350
MIRT468819	hsa-miR-629-5p	PAR-CLIP	20371350
MIRT468818	hsa-miR-6793-5p	PAR-CLIP	20371350
MIRT468816	hsa-miR-4540	PAR-CLIP	20371350
MIRT468815	hsa-miR-6839-3p	PAR-CLIP	20371350
MIRT468814	hsa-miR-552-5p	PAR-CLIP	20371350
MIRT468828	hsa-miR-490-3p	PAR-CLIP	21572407
MIRT468827	hsa-miR-649	PAR-CLIP	21572407
MIRT468826	hsa-miR-6838-3p	PAR-CLIP	21572407
MIRT468825	hsa-miR-6748-3p	PAR-CLIP	21572407
MIRT468824	hsa-miR-4421	PAR-CLIP	21572407
MIRT468823	hsa-miR-5699-3p	PAR-CLIP	21572407
MIRT468822	hsa-miR-1237-3p	PAR-CLIP	21572407
MIRT468821	hsa-miR-1248	PAR-CLIP	21572407
MIRT468820	hsa-miR-4795-5p	PAR-CLIP	21572407
MIRT468819	hsa-miR-629-5p	PAR-CLIP	21572407
MIRT468818	hsa-miR-6793-5p	PAR-CLIP	21572407
MIRT468816	hsa-miR-4540	PAR-CLIP	21572407
MIRT468817	hsa-miR-6868-3p	PAR-CLIP	21572407
MIRT468815	hsa-miR-6839-3p	PAR-CLIP	21572407
MIRT468814	hsa-miR-552-5p	PAR-CLIP	21572407
MIRT468828	hsa-miR-490-3p	PAR-CLIP	23592263
MIRT468827	hsa-miR-649	PAR-CLIP	23592263
MIRT468826	hsa-miR-6838-3p	PAR-CLIP	23592263
MIRT468825	hsa-miR-6748-3p	PAR-CLIP	23592263
MIRT468824	hsa-miR-4421	PAR-CLIP	23592263
MIRT468823	hsa-miR-5699-3p	PAR-CLIP	23592263
MIRT468822	hsa-miR-1237-3p	PAR-CLIP	23592263
MIRT468821	hsa-miR-1248	PAR-CLIP	23592263
MIRT468820	hsa-miR-4795-5p	PAR-CLIP	23592263
MIRT468819	hsa-miR-629-5p	PAR-CLIP	23592263
MIRT468818	hsa-miR-6793-5p	PAR-CLIP	23592263
MIRT468816	hsa-miR-4540	PAR-CLIP	23592263
MIRT468817	hsa-miR-6868-3p	PAR-CLIP	23592263
MIRT468815	hsa-miR-6839-3p	PAR-CLIP	23592263
MIRT468814	hsa-miR-552-5p	PAR-CLIP	23592263
MIRT572970	hsa-miR-1228-3p	PAR-CLIP	20371350
MIRT572971	hsa-miR-6884-3p	PAR-CLIP	20371350
MIRT572970	hsa-miR-1228-3p	PAR-CLIP	20371350
MIRT572971	hsa-miR-6884-3p	PAR-CLIP	20371350
MIRT468828	hsa-miR-490-3p	PAR-CLIP	20371350
MIRT468827	hsa-miR-649	PAR-CLIP	20371350
MIRT468826	hsa-miR-6838-3p	PAR-CLIP	20371350
MIRT468825	hsa-miR-6748-3p	PAR-CLIP	20371350
MIRT468824	hsa-miR-4421	PAR-CLIP	20371350
MIRT468823	hsa-miR-5699-3p	PAR-CLIP	20371350
MIRT468820	hsa-miR-4795-5p	PAR-CLIP	20371350
MIRT468819	hsa-miR-629-5p	PAR-CLIP	20371350
MIRT468818	hsa-miR-6793-5p	PAR-CLIP	20371350
MIRT468816	hsa-miR-4540	PAR-CLIP	20371350
MIRT468815	hsa-miR-6839-3p	PAR-CLIP	20371350
MIRT468814	hsa-miR-552-5p	PAR-CLIP	20371350
MIRT468828	hsa-miR-490-3p	PAR-CLIP	21572407
MIRT468827	hsa-miR-649	PAR-CLIP	21572407
MIRT468826	hsa-miR-6838-3p	PAR-CLIP	21572407
MIRT468825	hsa-miR-6748-3p	PAR-CLIP	21572407
MIRT468824	hsa-miR-4421	PAR-CLIP	21572407
MIRT468823	hsa-miR-5699-3p	PAR-CLIP	21572407
MIRT468822	hsa-miR-1237-3p	PAR-CLIP	21572407
MIRT468821	hsa-miR-1248	PAR-CLIP	21572407
MIRT468820	hsa-miR-4795-5p	PAR-CLIP	21572407
MIRT468819	hsa-miR-629-5p	PAR-CLIP	21572407
MIRT468818	hsa-miR-6793-5p	PAR-CLIP	21572407
MIRT468816	hsa-miR-4540	PAR-CLIP	21572407
MIRT468817	hsa-miR-6868-3p	PAR-CLIP	21572407
MIRT468815	hsa-miR-6839-3p	PAR-CLIP	21572407
MIRT468814	hsa-miR-552-5p	PAR-CLIP	21572407
MIRT468828	hsa-miR-490-3p	PAR-CLIP	23592263
MIRT468827	hsa-miR-649	PAR-CLIP	23592263
MIRT468826	hsa-miR-6838-3p	PAR-CLIP	23592263
MIRT468825	hsa-miR-6748-3p	PAR-CLIP	23592263
MIRT468824	hsa-miR-4421	PAR-CLIP	23592263
MIRT468823	hsa-miR-5699-3p	PAR-CLIP	23592263
MIRT468822	hsa-miR-1237-3p	PAR-CLIP	23592263
MIRT468821	hsa-miR-1248	PAR-CLIP	23592263
MIRT468820	hsa-miR-4795-5p	PAR-CLIP	23592263
MIRT468819	hsa-miR-629-5p	PAR-CLIP	23592263
MIRT468818	hsa-miR-6793-5p	PAR-CLIP	23592263
MIRT468816	hsa-miR-4540	PAR-CLIP	23592263
MIRT468817	hsa-miR-6868-3p	PAR-CLIP	23592263
MIRT468815	hsa-miR-6839-3p	PAR-CLIP	23592263
MIRT468814	hsa-miR-552-5p	PAR-CLIP	23592263
MIRT1321499	hsa-miR-1237	CLIP-seq
MIRT1321500	hsa-miR-1915	CLIP-seq
MIRT1321501	hsa-miR-200b	CLIP-seq
MIRT1321502	hsa-miR-200c	CLIP-seq
MIRT1321503	hsa-miR-2052	CLIP-seq
MIRT1321504	hsa-miR-3145-3p	CLIP-seq
MIRT1321505	hsa-miR-3149	CLIP-seq
MIRT1321506	hsa-miR-3163	CLIP-seq
MIRT1321507	hsa-miR-34c-3p	CLIP-seq
MIRT1321508	hsa-miR-3591-3p	CLIP-seq
MIRT1321509	hsa-miR-362-5p	CLIP-seq
MIRT1321510	hsa-miR-3691-3p	CLIP-seq
MIRT1321511	hsa-miR-4282	CLIP-seq
MIRT1321512	hsa-miR-429	CLIP-seq
MIRT1321513	hsa-miR-4328	CLIP-seq
MIRT1321514	hsa-miR-4420	CLIP-seq
MIRT1321515	hsa-miR-4427	CLIP-seq
MIRT1321516	hsa-miR-4699-3p	CLIP-seq
MIRT1321517	hsa-miR-4724-5p	CLIP-seq
MIRT1321518	hsa-miR-4726-3p	CLIP-seq
MIRT1321519	hsa-miR-494	CLIP-seq
MIRT1321520	hsa-miR-500b	CLIP-seq
MIRT1321521	hsa-miR-501-5p	CLIP-seq
MIRT1321522	hsa-miR-514	CLIP-seq
MIRT1321523	hsa-miR-514b-3p	CLIP-seq
MIRT1321524	hsa-miR-520d-5p	CLIP-seq
MIRT1321525	hsa-miR-524-5p	CLIP-seq
MIRT1321526	hsa-miR-580	CLIP-seq
MIRT1321527	hsa-miR-621	CLIP-seq
MIRT1321528	hsa-miR-656	CLIP-seq
MIRT2095444	hsa-miR-1287	CLIP-seq
MIRT2095445	hsa-miR-21	CLIP-seq
MIRT2095446	hsa-miR-3135b	CLIP-seq
MIRT2095447	hsa-miR-3920	CLIP-seq
MIRT2095448	hsa-miR-3924	CLIP-seq
MIRT2095449	hsa-miR-4668-3p	CLIP-seq
MIRT2095450	hsa-miR-548c-3p	CLIP-seq
MIRT2095451	hsa-miR-590-5p	CLIP-seq
MIRT2319819	hsa-miR-1178	CLIP-seq
MIRT2319820	hsa-miR-1183	CLIP-seq
MIRT2319821	hsa-miR-1184	CLIP-seq
MIRT2319822	hsa-miR-1224-3p	CLIP-seq
MIRT1321499	hsa-miR-1237	CLIP-seq
MIRT2095444	hsa-miR-1287	CLIP-seq
MIRT2319823	hsa-miR-129-5p	CLIP-seq
MIRT2319824	hsa-miR-1301	CLIP-seq
MIRT2319825	hsa-miR-197	CLIP-seq
MIRT2095445	hsa-miR-21	CLIP-seq
MIRT2319826	hsa-miR-2277-3p	CLIP-seq
MIRT2095446	hsa-miR-3135b	CLIP-seq
MIRT2319827	hsa-miR-3136-5p	CLIP-seq
MIRT1321504	hsa-miR-3145-3p	CLIP-seq
MIRT1321507	hsa-miR-34c-3p	CLIP-seq
MIRT1321508	hsa-miR-3591-3p	CLIP-seq
MIRT1321509	hsa-miR-362-5p	CLIP-seq
MIRT2319828	hsa-miR-3667-3p	CLIP-seq
MIRT2095448	hsa-miR-3924	CLIP-seq
MIRT2319829	hsa-miR-4279	CLIP-seq
MIRT2319830	hsa-miR-4286	CLIP-seq
MIRT1321514	hsa-miR-4420	CLIP-seq
MIRT1321515	hsa-miR-4427	CLIP-seq
MIRT2319831	hsa-miR-4439	CLIP-seq
MIRT2319832	hsa-miR-4660	CLIP-seq
MIRT2095449	hsa-miR-4668-3p	CLIP-seq
MIRT2319833	hsa-miR-4712-3p	CLIP-seq
MIRT2319834	hsa-miR-4716-5p	CLIP-seq
MIRT2319835	hsa-miR-4731-3p	CLIP-seq
MIRT2319836	hsa-miR-4801	CLIP-seq
MIRT1321520	hsa-miR-500b	CLIP-seq
MIRT1321521	hsa-miR-501-5p	CLIP-seq
MIRT2319837	hsa-miR-5047	CLIP-seq
MIRT2095450	hsa-miR-548c-3p	CLIP-seq
MIRT2319838	hsa-miR-548k	CLIP-seq
MIRT2319839	hsa-miR-548n	CLIP-seq
MIRT2095451	hsa-miR-590-5p	CLIP-seq
MIRT2319840	hsa-miR-595	CLIP-seq
MIRT2319841	hsa-miR-624	CLIP-seq
MIRT2319842	hsa-miR-629	CLIP-seq
MIRT2319843	hsa-miR-943	CLIP-seq
MIRT2615674	hsa-miR-1305	CLIP-seq
MIRT1321501	hsa-miR-200b	CLIP-seq
MIRT1321502	hsa-miR-200c	CLIP-seq
MIRT2615675	hsa-miR-2054	CLIP-seq
MIRT1321504	hsa-miR-3145-3p	CLIP-seq
MIRT1321505	hsa-miR-3149	CLIP-seq
MIRT1321506	hsa-miR-3163	CLIP-seq
MIRT1321507	hsa-miR-34c-3p	CLIP-seq
MIRT1321508	hsa-miR-3591-3p	CLIP-seq
MIRT1321510	hsa-miR-3691-3p	CLIP-seq
MIRT2615676	hsa-miR-369-3p	CLIP-seq
MIRT2615677	hsa-miR-374a	CLIP-seq
MIRT2615678	hsa-miR-374b	CLIP-seq
MIRT2615679	hsa-miR-380	CLIP-seq
MIRT2615680	hsa-miR-3913-3p	CLIP-seq
MIRT1321511	hsa-miR-4282	CLIP-seq
MIRT1321512	hsa-miR-429	CLIP-seq
MIRT1321514	hsa-miR-4420	CLIP-seq
MIRT1321515	hsa-miR-4427	CLIP-seq
MIRT2615681	hsa-miR-4643	CLIP-seq
MIRT1321516	hsa-miR-4699-3p	CLIP-seq
MIRT1321517	hsa-miR-4724-5p	CLIP-seq
MIRT2615682	hsa-miR-4796-5p	CLIP-seq
MIRT2615683	hsa-miR-489	CLIP-seq
MIRT1321519	hsa-miR-494	CLIP-seq
MIRT1321522	hsa-miR-514	CLIP-seq
MIRT1321523	hsa-miR-514b-3p	CLIP-seq
MIRT1321524	hsa-miR-520d-5p	CLIP-seq
MIRT1321525	hsa-miR-524-5p	CLIP-seq
MIRT1321527	hsa-miR-621	CLIP-seq
MIRT2615674	hsa-miR-1305	CLIP-seq
MIRT1321504	hsa-miR-3145-3p	CLIP-seq
MIRT1321505	hsa-miR-3149	CLIP-seq
MIRT1321507	hsa-miR-34c-3p	CLIP-seq
MIRT1321508	hsa-miR-3591-3p	CLIP-seq
MIRT2615680	hsa-miR-3913-3p	CLIP-seq
MIRT1321511	hsa-miR-4282	CLIP-seq
MIRT1321514	hsa-miR-4420	CLIP-seq
MIRT1321516	hsa-miR-4699-3p	CLIP-seq
MIRT2615682	hsa-miR-4796-5p	CLIP-seq
MIRT2615683	hsa-miR-489	CLIP-seq
MIRT1321524	hsa-miR-520d-5p	CLIP-seq
MIRT1321525	hsa-miR-524-5p	CLIP-seq
MIRT1321527	hsa-miR-621	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0003723	Function	RNA binding	HDA	22681889
GO:0005515	Function	Protein binding	IPI	23602568, 25416956, 32296183, 33961781

MIM	HGNC	e!Ensembl
619996	30559	ENSG00000111011

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
GLGFTSSMRGMDAV

Sequence length

434

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (10)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
AUTISTIC BEHAVIOR	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER	—	GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLOBAL DEVELOPMENTAL DELAY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLOMERULONEPHRITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOPIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RSRC2-related disorder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STRABISMUS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (13)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Autistic behavior	Autism	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	17203224		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	17203224		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	LHGDN	17203224		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	17203224		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neoplasms	Neoplasms	BEFREE	17203224, 21036922		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	20444257	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	17203224		★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	28416606		★★★★★ ★☆☆☆☆ Found in Text Mining only

RSRC2 (arginine and serine rich coiled-coil 2)