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.

100

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 (6)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Carcinoma Ovarian Epithelial	Associate	25623116	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Associate	25034528	★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Associate	26176707	★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Associate	26176707	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	25034528, 34245111	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Associate	31522605	★★★★★ ★☆☆☆☆ Found in Text Mining only

SYF2 (SYF2 pre-mRNA splicing factor)