Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	57703
Gene name	CWC22 spliceosome associated protein
Gene symbol	CWC22
Synonyms (NCBI Gene)	EIF4GLNCMfSAPb
Chromosome	2
Chromosome location	2q31.3

103 Show/Hide all (103)

miRTarBase ID	miRNA	Experiments	Reference
MIRT041798	hsa-miR-484	CLASH	23622248
MIRT039856	hsa-miR-615-3p	CLASH	23622248
MIRT037138	hsa-miR-877-3p	CLASH	23622248
MIRT917383	hsa-miR-1296	CLIP-seq
MIRT917384	hsa-miR-1305	CLIP-seq
MIRT917385	hsa-miR-188-5p	CLIP-seq
MIRT917386	hsa-miR-204	CLIP-seq
MIRT917387	hsa-miR-211	CLIP-seq
MIRT917388	hsa-miR-3115	CLIP-seq
MIRT917389	hsa-miR-3132	CLIP-seq
MIRT917390	hsa-miR-3671	CLIP-seq
MIRT917391	hsa-miR-4299	CLIP-seq
MIRT917392	hsa-miR-4456	CLIP-seq
MIRT917393	hsa-miR-4512	CLIP-seq
MIRT917394	hsa-miR-4775	CLIP-seq
MIRT917395	hsa-miR-548q	CLIP-seq
MIRT917396	hsa-miR-561	CLIP-seq
MIRT917397	hsa-miR-590-3p	CLIP-seq
MIRT917398	hsa-miR-607	CLIP-seq
MIRT2386595	hsa-miR-145	CLIP-seq
MIRT2386596	hsa-miR-198	CLIP-seq
MIRT917384	hsa-miR-1305	CLIP-seq
MIRT917386	hsa-miR-204	CLIP-seq
MIRT917387	hsa-miR-211	CLIP-seq
MIRT917390	hsa-miR-3671	CLIP-seq
MIRT917391	hsa-miR-4299	CLIP-seq
MIRT917392	hsa-miR-4456	CLIP-seq
MIRT917395	hsa-miR-548q	CLIP-seq
MIRT917396	hsa-miR-561	CLIP-seq
MIRT917398	hsa-miR-607	CLIP-seq
MIRT2510969	hsa-miR-1273f	CLIP-seq
MIRT917383	hsa-miR-1296	CLIP-seq
MIRT917384	hsa-miR-1305	CLIP-seq
MIRT2510970	hsa-miR-143	CLIP-seq
MIRT917385	hsa-miR-188-5p	CLIP-seq
MIRT917386	hsa-miR-204	CLIP-seq
MIRT917387	hsa-miR-211	CLIP-seq
MIRT917388	hsa-miR-3115	CLIP-seq
MIRT917389	hsa-miR-3132	CLIP-seq
MIRT2510971	hsa-miR-3163	CLIP-seq
MIRT2510972	hsa-miR-3171	CLIP-seq
MIRT2510973	hsa-miR-340	CLIP-seq
MIRT2510974	hsa-miR-3646	CLIP-seq
MIRT2510975	hsa-miR-3662	CLIP-seq
MIRT917390	hsa-miR-3671	CLIP-seq
MIRT2510976	hsa-miR-3973	CLIP-seq
MIRT2510977	hsa-miR-4275	CLIP-seq
MIRT917391	hsa-miR-4299	CLIP-seq
MIRT917392	hsa-miR-4456	CLIP-seq
MIRT917393	hsa-miR-4512	CLIP-seq
MIRT2510978	hsa-miR-4708-5p	CLIP-seq
MIRT2510979	hsa-miR-4770	CLIP-seq
MIRT917394	hsa-miR-4775	CLIP-seq
MIRT2510980	hsa-miR-513a-3p	CLIP-seq
MIRT2510981	hsa-miR-520g	CLIP-seq
MIRT2510982	hsa-miR-520h	CLIP-seq
MIRT2510983	hsa-miR-548a-5p	CLIP-seq
MIRT2510984	hsa-miR-548ab	CLIP-seq
MIRT2510985	hsa-miR-548ak	CLIP-seq
MIRT2510986	hsa-miR-548b-5p	CLIP-seq
MIRT2510987	hsa-miR-548c-5p	CLIP-seq
MIRT2510988	hsa-miR-548d-5p	CLIP-seq
MIRT2510989	hsa-miR-548h	CLIP-seq
MIRT2510990	hsa-miR-548i	CLIP-seq
MIRT2510991	hsa-miR-548j	CLIP-seq
MIRT917395	hsa-miR-548q	CLIP-seq
MIRT2510992	hsa-miR-548w	CLIP-seq
MIRT2510993	hsa-miR-548y	CLIP-seq
MIRT2510994	hsa-miR-559	CLIP-seq
MIRT917396	hsa-miR-561	CLIP-seq
MIRT2510995	hsa-miR-570	CLIP-seq
MIRT917397	hsa-miR-590-3p	CLIP-seq
MIRT917398	hsa-miR-607	CLIP-seq
MIRT2510969	hsa-miR-1273f	CLIP-seq
MIRT917383	hsa-miR-1296	CLIP-seq
MIRT917384	hsa-miR-1305	CLIP-seq
MIRT2510970	hsa-miR-143	CLIP-seq
MIRT917385	hsa-miR-188-5p	CLIP-seq
MIRT917386	hsa-miR-204	CLIP-seq
MIRT917387	hsa-miR-211	CLIP-seq
MIRT917388	hsa-miR-3115	CLIP-seq
MIRT917389	hsa-miR-3132	CLIP-seq
MIRT2510971	hsa-miR-3163	CLIP-seq
MIRT2510972	hsa-miR-3171	CLIP-seq
MIRT2510973	hsa-miR-340	CLIP-seq
MIRT2510974	hsa-miR-3646	CLIP-seq
MIRT2510975	hsa-miR-3662	CLIP-seq
MIRT917390	hsa-miR-3671	CLIP-seq
MIRT2510977	hsa-miR-4275	CLIP-seq
MIRT917391	hsa-miR-4299	CLIP-seq
MIRT917392	hsa-miR-4456	CLIP-seq
MIRT917393	hsa-miR-4512	CLIP-seq
MIRT2510978	hsa-miR-4708-5p	CLIP-seq
MIRT2510979	hsa-miR-4770	CLIP-seq
MIRT917394	hsa-miR-4775	CLIP-seq
MIRT2510980	hsa-miR-513a-3p	CLIP-seq
MIRT2678826	hsa-miR-520d-5p	CLIP-seq
MIRT2678827	hsa-miR-524-5p	CLIP-seq
MIRT917395	hsa-miR-548q	CLIP-seq
MIRT917396	hsa-miR-561	CLIP-seq
MIRT2510995	hsa-miR-570	CLIP-seq
MIRT917397	hsa-miR-590-3p	CLIP-seq
MIRT917398	hsa-miR-607	CLIP-seq

23 Show/Hide all (23)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000398	Process	MRNA splicing, via spliceosome	IBA
GO:0000398	Process	MRNA splicing, via spliceosome	IC	11991638
GO:0000398	Process	MRNA splicing, via spliceosome	IDA	29360106
GO:0003723	Function	RNA binding	IBA
GO:0003723	Function	RNA binding	IDA	11991638
GO:0003723	Function	RNA binding	IEA
GO:0005515	Function	Protein binding	IPI	22365833, 22961380, 23084401, 23236153, 29997244, 32296183
GO:0005634	Component	Nucleus	IDA	29360106
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005681	Component	Spliceosomal complex	IDA	11991638
GO:0005681	Component	Spliceosomal complex	IEA
GO:0005829	Component	Cytosol	IDA
GO:0006397	Process	MRNA processing	IEA
GO:0008380	Process	RNA splicing	IEA
GO:0016607	Component	Nuclear speck	IDA	22961380
GO:0016607	Component	Nuclear speck	IEA
GO:0048024	Process	Regulation of mRNA splicing, via spliceosome	IC	11991638
GO:0071005	Component	U2-type precatalytic spliceosome	IDA	29360106
GO:0071006	Component	U2-type catalytic step 1 spliceosome	IDA	29301961
GO:0071007	Component	U2-type catalytic step 2 spliceosome	IDA	28076346
GO:0071013	Component	Catalytic step 2 spliceosome	IBA
GO:0071013	Component	Catalytic step 2 spliceosome	IDA	11991638, 22961380

MIM	HGNC	e!Ensembl
615186	29322	ENSG00000163510

Q9HCG8

Protein name

Pre-mRNA-splicing factor CWC22 homolog (Nucampholin homolog) (fSAPb)

Protein function

Required for pre-mRNA splicing as component of the spliceosome (PubMed:11991638, PubMed:12226669, PubMed:22961380, PubMed:28076346, PubMed:28502770, PubMed:29301961, PubMed:29360106). As a component of the minor spliceosome, involved in the spli

PDB

4C9B , 5MQF , 5XJC , 5YZG , 5Z56 , 5Z57 , 5Z58 , 6FF7 , 6ICZ , 6QDV , 6YVH , 6ZYM , 7A5P , 7DVQ , 7QTT , 7W59 , 7W5A , 7W5B , 8C6J , 8CH6 , 8I0R , 8I0S , 8I0T , 8I0U , 8I0V , 8I0W , 9FMD

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02847	MA3	455 → 561	MA3 domain	Family

Sequence

MKSSVAQIKPSSGHDRRENLNSYQRNSSPEDRYEEQERSPRDRDYFDYSRSDYEHSRRGR
SYDSSMESRNRDREKRRERERDTDRKRSRKSPSPGRRNPETSVTQSSSAQDEPATKKKKD
ELDPLLTRTGGAYIPPAKLRMMQEQITDKNSLAYQRMSWEALKKSINGLINKVNISNISI
IIQELLQENIVRGRGLLSRSVLQAQSASPIFTHVYAALVAIINSKFPQIGELILKRLILN
FRKGYRRNDKQLCLTASKFVAHLINQNVAHEVLCLEMLTLLLERPTDDSVEVAIGFLKEC
GLKLTQVSPRGINAIFERLRNILHESEIDKRVQYMIEVMFAVRKDGFKDHPIILEGLDLV
EEDDQFTHMLPLEDDYNPEDVLNVFKMDPNFMENEEKYKAIKKEILDEGDTDSNTDQDAG
SSEEDEEEEEEEGEEDEEGQKVTIHDKTEINLVSFRRTIYLAIQSSLDFEECAHKLLKME
FPESQTKELCNMILDCCAQQRTYEKFFGLLAGRFCMLKKEYMESFEGIFKEQYDTIHRLE
TNKLRNVAKMFAHLLYTDSLPWSVLECIKLSEETTTSSSRIFVKIFFQELCEYMGLPKLN
ARLKDETLQPFFEGLLPRDNPRNTRFAINFFTSIGLGGLTDELREHLKNTPKVIVAQKPD
VEQNKSSPSSSSSASSSSESDSSDSDSDSSDSSSESSSEESDSSSISSHSSASANDVRKK
GHGKTRSKEVDKLIRNQQTNDRKQKERRQEHGHQETRTERERRSEKHRDQNSSGSNWRDP
ITKYTSDKDVPSERNNYSRVANDRDQEMHIDLENKHGDPKKKRGERRNSFSENEKHTHRI
KDSENFRRKDRSKSKEMNRKHSGSRSDEDRYQNGAERRWEKSSRYSEQSRESKKNQDRRR
EKSPAKQK

Sequence length

908

Interactions

View interactions

Reactome Pathway
mRNA Splicing - Major Pathway

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)

Phenotype Name	Clinical Significance	Source	Reference	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. Show/Hide Unknown Diseases (20)
ATRIAL FIBRILLATION	—	GWAS catalog	40645996	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	23453885, 35764056	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	23453885, 35764056	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	23453885	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	25866641	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESSENTIAL TREMOR	—	GWAS catalog	34982113	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FEMALE REPRODUCTIVE SYSTEM DISEASE	—	GWAS catalog	40465716	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	39406924	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	23453885	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	39349817	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	21552555	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CANCER	—	GWAS catalog	40465716	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PELVIC ORGAN PROLAPSE	—	GWAS catalog	40465716	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	37612283, 37945903	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	22219177, 37612283, 37945903	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RECTUM CANCER	—	GWAS catalog	25866641	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	23453885, 26198764, 28991256, 30285260, 35396580	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	21408207	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	39349817	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE ADNEXA CANCER	—	GWAS catalog	40465716	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (7)
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	35328793	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	30396755		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	32345988	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	31243111		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	25289862		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polyneuropathy	Polyneuropathy	BEFREE	28250049		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	GWASCAT_DG	28991256, 30285260		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

CWC22 (CWC22 spliceosome associated protein)

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