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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	25949
Gene name	SYF2 pre-mRNA splicing factor
Gene symbol	SYF2
Synonyms (NCBI Gene)	CBPINNTC31P29fSAP29
Chromosome	1
Chromosome location	1p36.11
Summary	This gene encodes a nuclear protein that interacts with cyclin D-type binding-protein 1, which is thought to be a cell cycle regulator at the G1/S transition. Alternate transcriptional splice variants, encoding different isoforms, have been characterized.

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Show/Hide all (100)

miRTarBase ID	miRNA	Experiments	Reference
MIRT031481	hsa-miR-16-5p	Proteomics	18668040
MIRT044386	hsa-miR-320a	CLASH	23622248
MIRT044386	hsa-miR-320a	CLASH	23622248
MIRT546371	hsa-miR-300	PAR-CLIP	21572407
MIRT546370	hsa-miR-381-3p	PAR-CLIP	21572407
MIRT546369	hsa-miR-376c-3p	PAR-CLIP	21572407
MIRT546368	hsa-miR-5692a	PAR-CLIP	21572407
MIRT546367	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT546366	hsa-miR-5692b	PAR-CLIP	21572407
MIRT546365	hsa-miR-5692c	PAR-CLIP	21572407
MIRT546364	hsa-miR-4666a-3p	PAR-CLIP	21572407
MIRT546363	hsa-miR-520d-5p	PAR-CLIP	21572407
MIRT546362	hsa-miR-524-5p	PAR-CLIP	21572407
MIRT338286	hsa-let-7a-3p	PAR-CLIP	21572407
MIRT338287	hsa-let-7b-3p	PAR-CLIP	21572407
MIRT338288	hsa-let-7f-1-3p	PAR-CLIP	21572407
MIRT338290	hsa-miR-98-3p	PAR-CLIP	21572407
MIRT546371	hsa-miR-300	PAR-CLIP	21572407
MIRT546370	hsa-miR-381-3p	PAR-CLIP	21572407
MIRT546369	hsa-miR-376c-3p	PAR-CLIP	21572407
MIRT546368	hsa-miR-5692a	PAR-CLIP	21572407
MIRT546367	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT546366	hsa-miR-5692b	PAR-CLIP	21572407
MIRT546365	hsa-miR-5692c	PAR-CLIP	21572407
MIRT546364	hsa-miR-4666a-3p	PAR-CLIP	21572407
MIRT546363	hsa-miR-520d-5p	PAR-CLIP	21572407
MIRT546362	hsa-miR-524-5p	PAR-CLIP	21572407
MIRT338286	hsa-let-7a-3p	PAR-CLIP	21572407
MIRT338287	hsa-let-7b-3p	PAR-CLIP	21572407
MIRT338288	hsa-let-7f-1-3p	PAR-CLIP	21572407
MIRT338290	hsa-miR-98-3p	PAR-CLIP	21572407
MIRT1405230	hsa-miR-1253	CLIP-seq
MIRT1405231	hsa-miR-3185	CLIP-seq
MIRT1405232	hsa-miR-3622b-5p	CLIP-seq
MIRT1405233	hsa-miR-3688-3p	CLIP-seq
MIRT1405234	hsa-miR-3910	CLIP-seq
MIRT1405235	hsa-miR-4263	CLIP-seq
MIRT1405236	hsa-miR-4663	CLIP-seq
MIRT1405237	hsa-miR-4694-3p	CLIP-seq
MIRT1405238	hsa-miR-4728-3p	CLIP-seq
MIRT1405239	hsa-miR-4765	CLIP-seq
MIRT1405240	hsa-miR-4799-5p	CLIP-seq
MIRT1405241	hsa-miR-522	CLIP-seq
MIRT1405242	hsa-miR-548a-5p	CLIP-seq
MIRT1405243	hsa-miR-548ab	CLIP-seq
MIRT1405244	hsa-miR-548ak	CLIP-seq
MIRT1405245	hsa-miR-548b-5p	CLIP-seq
MIRT1405246	hsa-miR-548c-5p	CLIP-seq
MIRT1405247	hsa-miR-548d-5p	CLIP-seq
MIRT1405248	hsa-miR-548h	CLIP-seq
MIRT1405249	hsa-miR-548i	CLIP-seq
MIRT1405250	hsa-miR-548j	CLIP-seq
MIRT1405251	hsa-miR-548w	CLIP-seq
MIRT1405252	hsa-miR-548y	CLIP-seq
MIRT1405253	hsa-miR-559	CLIP-seq
MIRT1405254	hsa-miR-576-5p	CLIP-seq
MIRT2121564	hsa-miR-1538	CLIP-seq
MIRT2121565	hsa-miR-3198	CLIP-seq
MIRT2121566	hsa-miR-3677-5p	CLIP-seq
MIRT2121567	hsa-miR-3691-3p	CLIP-seq
MIRT2121568	hsa-miR-4305	CLIP-seq
MIRT2121569	hsa-miR-4309	CLIP-seq
MIRT2121570	hsa-miR-4731-3p	CLIP-seq
MIRT2121571	hsa-miR-4745-3p	CLIP-seq
MIRT2121572	hsa-miR-4801	CLIP-seq
MIRT1405254	hsa-miR-576-5p	CLIP-seq
MIRT2121573	hsa-miR-663b	CLIP-seq
MIRT2343621	hsa-miR-1208	CLIP-seq
MIRT2343622	hsa-miR-1910	CLIP-seq
MIRT2343623	hsa-miR-3925-3p	CLIP-seq
MIRT2343624	hsa-miR-4252	CLIP-seq
MIRT2343625	hsa-miR-4701-5p	CLIP-seq
MIRT2343626	hsa-miR-4769-3p	CLIP-seq
MIRT2343627	hsa-miR-548c-3p	CLIP-seq
MIRT1405254	hsa-miR-576-5p	CLIP-seq
MIRT2343628	hsa-miR-588	CLIP-seq
MIRT2466201	hsa-miR-483-3p	CLIP-seq
MIRT2466202	hsa-miR-513a-5p	CLIP-seq
MIRT2343621	hsa-miR-1208	CLIP-seq
MIRT2637255	hsa-miR-3133	CLIP-seq
MIRT2637256	hsa-miR-3163	CLIP-seq
MIRT2637257	hsa-miR-3613-3p	CLIP-seq
MIRT2637258	hsa-miR-4282	CLIP-seq
MIRT2637259	hsa-miR-4511	CLIP-seq
MIRT2637260	hsa-miR-513a-3p	CLIP-seq
MIRT2637261	hsa-miR-513c	CLIP-seq
MIRT2637262	hsa-miR-514b-5p	CLIP-seq
MIRT2637263	hsa-miR-607	CLIP-seq
MIRT2637264	hsa-miR-621	CLIP-seq
MIRT2343621	hsa-miR-1208	CLIP-seq
MIRT2637255	hsa-miR-3133	CLIP-seq
MIRT2637256	hsa-miR-3163	CLIP-seq
MIRT2637257	hsa-miR-3613-3p	CLIP-seq
MIRT2637258	hsa-miR-4282	CLIP-seq
MIRT2637259	hsa-miR-4511	CLIP-seq
MIRT2637260	hsa-miR-513a-3p	CLIP-seq
MIRT2637261	hsa-miR-513c	CLIP-seq
MIRT2637262	hsa-miR-514b-5p	CLIP-seq
MIRT2637263	hsa-miR-607	CLIP-seq
MIRT2637264	hsa-miR-621	CLIP-seq

Show/Hide all (22)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000398	Process	MRNA splicing, via spliceosome	IC	11991638
GO:0000398	Process	MRNA splicing, via spliceosome	IDA	28076346
GO:0000974	Component	Prp19 complex	IBA
GO:0001701	Process	In utero embryonic development	IEA
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0005515	Function	Protein binding	IPI	25416956, 32296183
GO:0005634	Component	Nucleus	IDA	28076346
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	11118353
GO:0005654	Component	Nucleoplasm	TAS
GO:0005681	Component	Spliceosomal complex	IEA
GO:0006397	Process	MRNA processing	IEA
GO:0007095	Process	Mitotic G2 DNA damage checkpoint signaling	IEA
GO:0007369	Process	Gastrulation	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IEA
GO:0008380	Process	RNA splicing	IEA
GO:0016607	Component	Nuclear speck	IDA
GO:0048568	Process	Embryonic organ development	IEA
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
GO:0071014	Component	Post-mRNA release spliceosomal complex	IBA

MIM	HGNC	e!Ensembl
607090	19824	ENSG00000117614

O95926

Protein name

Pre-mRNA-splicing factor SYF2 (CCNDBP1-interactor) (p29)

Protein function

Involved in pre-mRNA splicing as component of the spliceosome (PubMed:11991638, PubMed:28076346, PubMed:28502770).

PDB

5MQF , 5XJC , 5YZG , 6ICZ , 6ID0 , 6ID1 , 6QDV , 7A5P , 7W59 , 7W5A , 7W5B , 8C6J , 8I0U , 8I0V , 8I0W , 8RO2 , 9FMD

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF08231	SYF2	90 → 238	SYF2 splicing factor	Domain

Tissue specificity

TISSUE SPECIFICITY: Abundantly expressed in the heart, skeletal muscle and kidney. Expressed at lower level other tissues. {ECO:0000269|PubMed:11118353}.

Sequence

MAAIAASEVLVDSAEEGSLAAAAELAAQKREQRLRKFRELHLMRNEARKLNHQEVVEEDK
RLKLPANWEAKKARLEWELKEEEKKKECAARGEDYEKVKLLEISAEDAERWERKKKRKNP
DLGFSDYAAAQLRQYHRLTKQIKPDMETYERLREKHGEEFFPTSNSLLHGTHVPSTEEID
RMVIDLEKQIEKRDKYSRRRPYNDDADIDYINERNAKFNKKAERFYGKYTAEIKQNLERG
TAV

Sequence length

243

Interactions

View interactions

	KEGG		Reactome
	Spliceosome		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)

Show/Hide Unknown Diseases (1)

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.
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (22)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Breast Carcinoma	Breast Carcinoma	BEFREE	29179448		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	25623116	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	25623116		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	BEFREE	26176707, 31257073		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystitis	Cystitis	BEFREE	23273104		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	25623116		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	25034528	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	19748926, 22448250		★★★★★ ★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	19748926, 22448250		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	24985881		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	24985881		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	26260052		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	29179448		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	31522605		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	24985881		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	23284172, 26176707, 31257073		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	26176707	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Melanoma	Pubtator	26176707	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	1451100, 25623116, 26260052, 29179448		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	25433998, 31799663		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	31522605		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	31522605	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

SYF2 (SYF2 pre-mRNA splicing factor)