Gene Gene information from NCBI Gene database.
Entrez ID 6431
Gene name Serine and arginine rich splicing factor 6
Gene symbol SRSF6
Synonyms (NCBI Gene)
B52HEL-S-91SFRS6SRP55
Chromosome 20
Chromosome location 20q13.11
Summary The protein encoded by this gene is involved in mRNA splicing and may play a role in the determination of alternative splicing. The encoded nuclear protein belongs to the splicing factor SR family and has been shown to bind with and modulate another membe
miRNA miRNA information provided by mirtarbase database.
836
miRTarBase ID miRNA Experiments Reference
MIRT021143 hsa-miR-186-5p Sequencing 20371350
MIRT023804 hsa-miR-1-3p Proteomics 18668040
MIRT029475 hsa-miR-26b-5p Sequencing 20371350
MIRT050719 hsa-miR-18a-5p CLASH 23622248
MIRT295983 hsa-miR-6835-3p PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
30
GO ID Ontology Definition Evidence Reference
GO:0000375 Process RNA splicing, via transesterification reactions IEA
GO:0000380 Process Alternative mRNA splicing, via spliceosome IDA 22767602
GO:0000381 Process Regulation of alternative mRNA splicing, via spliceosome IBA
GO:0000381 Process Regulation of alternative mRNA splicing, via spliceosome IDA 23132731
GO:0000381 Process Regulation of alternative mRNA splicing, via spliceosome IMP 24440982
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601944 10788 ENSG00000124193
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q13247
Protein name Serine/arginine-rich splicing factor 6 (Pre-mRNA-splicing factor SRP55) (Splicing factor, arginine/serine-rich 6)
Protein function Plays a role in constitutive splicing and modulates the selection of alternative splice sites. Plays a role in the alternative splicing of MAPT/Tau exon 10. Binds to alternative exons of TNC pre-mRNA and promotes the expression of alternatively
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00076 RRM_1 4 66 RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) Domain
PF00076 RRM_1 112 177 RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) Domain
Sequence
MPRVYIGRLSYNVREKDIQRFFSGYGRLLEVDLKNGYGFVEFEDSRDADDAVYELNGKEL
CGERVI
VEHARGPRRDRDGYSYGSRSGGGGYSSRRTSGRDKYGPPVRTEYRLIVENLSSR
CSWQDLKDFMRQAGEVTYADAHKERTNEGVIEFRSYSDMKRALDKLDGTEINGRNIR
LIE
DKPRTSHRRSYSGSRSRSRSRRRSRSRSRRSSRSRSRSISKSRSRSRSRSKGRSRSRSKG
RKSRSKSKSKPKSDRGSHSHSRSRSKDEYEKSRSRSRSRSPKENGKGDIKSKSRSRSQSR
SNSPLPVPPSKARSVSPPPKRATSRSRSRSRSKSRSRSRSSSRD
Sequence length 344
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Spliceosome
Herpes simplex virus 1 infection
  Transport of Mature mRNA derived from an Intron-Containing Transcript
mRNA Splicing - Major Pathway
mRNA Splicing - Minor Pathway
mRNA 3'-end processing
RNA Polymerase II Transcription Termination
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
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)
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.
Phenotype Name Clinical Significance Source Evidence Score
NECROTIZING ENTEROCOLITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PROLIFERATIVE DIABETIC RETINOPATHY Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SPERMATOGENIC FAILURE 3 Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Azoospermia Nonobstructive Stimulate 24661730
★☆☆☆☆
Found in Text Mining only
Azoospermia Nonobstructive Associate 24661730
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Associate 29246973
★☆☆☆☆
Found in Text Mining only
Colitis Ulcerative Associate 12211531, 21709638
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Associate 28276498
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Associate 29246973, 33376132
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Type 2 Associate 33212780
★☆☆☆☆
Found in Text Mining only
DNA Virus Infections Associate 32901876
★☆☆☆☆
Found in Text Mining only
Down Syndrome Associate 31201803
★☆☆☆☆
Found in Text Mining only
Graves Ophthalmopathy Associate 37875358
★☆☆☆☆
Found in Text Mining only