Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6431
Gene name Gene Name - the full gene name approved by the HGNC.
Serine and arginine rich splicing factor 6
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SRSF6
Synonyms (NCBI Gene) Gene synonyms aliases
B52, HEL-S-91, SFRS6, SRP55
Chromosome Chromosome number
20
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
20q13.11
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000380 Process Alternative mRNA splicing, via spliceosome IBA 21873635
GO:0000380 Process Alternative mRNA splicing, via spliceosome IDA 22767602
GO:0000381 Process Regulation of alternative mRNA splicing, via spliceosome IDA 23132731
GO:0000381 Process Regulation of alternative mRNA splicing, via spliceosome IMP 24440982
GO:0000398 Process MRNA splicing, via spliceosome IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
601944 10788 ENSG00000124193
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Colorectal cancer Colorectal Carcinoma rs137854568, rs137854573, rs137854575, rs387906234, rs121908380, rs121908702, rs267606674, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800
View all (467 more)
Unknown
Disease term Disease name Evidence References Source
Schizophrenia Schizophrenia GWAS
Associations from Text Mining
Disease Name Relationship Type References
Azoospermia Nonobstructive Stimulate 24661730
Azoospermia Nonobstructive Associate 24661730
Carcinoma Renal Cell Associate 29246973
Colitis Ulcerative Associate 12211531, 21709638
Colorectal Neoplasms Associate 28276498
Diabetes Mellitus Associate 29246973, 33376132
Diabetes Mellitus Type 2 Associate 33212780
DNA Virus Infections Associate 32901876
Down Syndrome Associate 31201803
Graves Ophthalmopathy Associate 37875358