Gene Gene information from NCBI Gene database.
Entrez ID 135295
Gene name Serine and arginine rich splicing factor 12
Gene symbol SRSF12
Synonyms (NCBI Gene)
SFRS13BSFRS19SRrp35
Chromosome 6
Chromosome location 6q15
miRNA miRNA information provided by mirtarbase database.
182
miRTarBase ID miRNA Experiments Reference
MIRT019116 hsa-miR-335-5p Microarray 18185580
MIRT716237 hsa-miR-3606-3p HITS-CLIP 19536157
MIRT716236 hsa-miR-513a-3p HITS-CLIP 19536157
MIRT716235 hsa-miR-513c-3p HITS-CLIP 19536157
MIRT716234 hsa-miR-4778-3p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19
GO ID Ontology Definition Evidence Reference
GO:0000244 Process Spliceosomal tri-snRNP complex assembly NAS 11684676
GO:0000381 Process Regulation of alternative mRNA splicing, via spliceosome IBA
GO:0000381 Process Regulation of alternative mRNA splicing, via spliceosome IDA 11684676
GO:0000395 Process MRNA 5'-splice site recognition IDA 11684676
GO:0003676 Function Nucleic acid binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8WXF0
Protein name Serine/arginine-rich splicing factor 12 (35 kDa SR repressor protein) (SRrp35) (Splicing factor, arginine/serine-rich 13B) (Splicing factor, arginine/serine-rich 19)
Protein function Splicing factor that seems to antagonize SR proteins in pre-mRNA splicing regulation.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00076 RRM_1 12 82 RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in testis. {ECO:0000269|PubMed:11684676}.
Sequence
MSRYTRPPNTSLFIRNVADATRPEDLRREFGRYGPIVDVYIPLDFYTRRPRGFAYVQFED
VRDAEDALYNLNRKWVCGRQIE
IQFAQGDRKTPGQMKSKERHPCSPSDHRRSRSPSQRRT
RSRSSSWGRNRRRSDSLKESRHRRFSYSQSKSRSKSLPRRSTSARQSRTPRRNFGSRGRS
RSKSLQKRSKSIGKSQSSSPQKQTSSGTKSRSHGRHSDSIARSPCKSPKGYTNSETKVQT
AKHSHFRSHSRSRSYRHKNSW
Sequence length 261
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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
ARTHRITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Colorectal Neoplasms Associate 37359548
★☆☆☆☆
Found in Text Mining only
Inflammation Associate 37359548
★☆☆☆☆
Found in Text Mining only
Leukemia Myeloid Acute Associate 39463061
★☆☆☆☆
Found in Text Mining only