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SF3B2 (splicing factor 3b subunit 2)
Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10992
Gene nameGene Name - the full gene name approved by the HGNC.
Splicing factor 3b subunit 2
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
SF3B2
SynonymsGene synonyms aliases
CFM, Cus1, HFM, SAP145, SF3B145, SF3b1, SF3b150
ChromosomeChromosome number
11
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q13.1
SummarySummary of gene provided in NCBI Entrez Gene.
This gene encodes subunit 2 of the splicing factor 3b protein complex. Splicing factor 3b, together with splicing factor 3a and a 12S RNA unit, forms the U2 small nuclear ribonucleoproteins complex (U2 snRNP). The splicing factor 3b/3a complex binds pre-m
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
SNP ID Visualize variation Clinical significance Consequence
rs1057519959 A>C Likely-pathogenic Missense variant, coding sequence variant
rs1057519960 A>G Likely-pathogenic Missense variant, coding sequence variant
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
miRTarBase ID miRNA Experiments Reference
MIRT029398 hsa-miR-26b-5p Microarray 19088304
MIRT043738 hsa-miR-342-3p CLASH 23622248
MIRT043563 hsa-miR-331-3p CLASH 23622248
MIRT043182 hsa-miR-324-5p CLASH 23622248
MIRT041928 hsa-miR-484 CLASH 23622248
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
GO ID Ontology Definition Evidence Reference
GO:0000398 Process MRNA splicing, via spliceosome IBA 21873635
GO:0000398 Process MRNA splicing, via spliceosome IC 9731529, 11991638
GO:0000398 Process MRNA splicing, via spliceosome IDA 29360106
GO:0000398 Process MRNA splicing, via spliceosome TAS
GO:0003723 Function RNA binding HDA 22658674, 22681889
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q13435
Protein name Splicing factor 3B subunit 2 (Pre-mRNA-splicing factor SF3b 145 kDa subunit) (SF3b145) (Spliceosome-associated protein 145) (SAP 145)
Protein function Component of the 17S U2 SnRNP complex of the spliceosome, a large ribonucleoprotein complex that removes introns from transcribed pre-mRNAs (PubMed:12234937, PubMed:32494006, PubMed:34822310). The 17S U2 SnRNP complex (1) directly participates i
PDB 2DO5 , 5Z56 , 5Z57 , 5Z58 , 6AH0 , 6AHD , 6FF4 , 6FF7 , 6QX9 , 6Y50 , 6Y53 , 6Y5Q , 7ABG , 7ABH , 7ABI , 7DVQ , 7EVO , 7ONB , 7Q3L , 7Q4O , 7Q4P , 7QTT , 7VPX , 8CH6 , 8H6E , 8H6J , 8H6K , 8H6L , 8HK1 , 8I0P , 8I0R , 8I0S , 8I0T , 8I0U , 8I0V , 8QO9 , 8QXD , 8QZS , 8R08 , 8R09 , 8R0A , 8R0B , 8RM5 , 8Y7E
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02037 SAP
24 → 58
SAP domain
 Family
PF04037 DUF382
470 → 596
Domain of unknown function (DUF382)
Family
PF04046 PSP
605 → 655
PSP
 Family
Sequence 
MATEHPEPPKAELQLPPPPPPGHYGAWAAQELQAKLAEIGAPIQGNREELVERLQSYTRQ
TGIVLNRPVLRGEDGDKAAPPPMSAQLPGIPMPPPPLGLPPLQPPPPPPPPPPGLGLGFP
MAHPPNLGPPPPLRVGEPVALSEEERLKLAQQQAALLMQQEERAKQQGDHSLKEHELLEQ
QKRAAVLLEQERQQEIAKMGTPVPRPPQDMGQIGVRTPLGPRVAAPVGPVGPTPTVLPMG
APVPRPRGPPPPPGDENREMDDPSVGPKIPQALEKILQLKESRQEEMNSQQEEEEMETDA
RSSLGQSASETEEDTVSVSKKEKNRKRRNRKKKKKPQRVRGVSSESSGDREKDSTRSRGS
DSPAADVEIEYVTEEPEIYEPNFIFFKRIFEAFKLTDDVKKEKEKEPEKLDKLENSAAPK
KKGFEEEHKDSDDDSSDDEQEKKPEAPKLSKKKLRRMNRFTVAELKQLVARPDVVEMHDV
TAQDPKLLVHLKATRNSVPVPRHWCFKRKYLQGKRGIEKPPFELPDFIKRTGIQEMREAL
QEKEEQKTMKSKMREKVRPKMGKIDIDYQKLHDAFFKWQTKPKLTIHGDLYYEGKEFETR
LKEKKPGDLSDELRISLGMPVGPNAHKVPPPWLIAMQRYGPPPSYPNLKIPGLNSPIPES
CSFGYHAGGWGKPPVDETGKPLYGDVFGTNAAEFQTKTEEEEIDRTPWGELEPSDEESSE
EEEEEESDEDKPDETGFITPADSGLITPGGFSSVPAGMETPELIELRKKKIEEAMDGSET
PQLFTVLPEKRTATVGGAMMGSTHIYDMSTVMSRKGPAPELQGVEVALAPEELELDPMAM
TQKYEEHVREQQAQVEKEDFSDMVAEHAAKQKQKKRKAQPQDSRGGSKKYKEFKF
Sequence length 895
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
 
KEGG
  
Reactome
  Spliceosome   mRNA Splicing - Major Pathway
mRNA Splicing - Minor Pathway
Associated diseases
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term dbSNP ID References
Leukemia Leukemia, Myelocytic, Acute rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297, rs11978267, rs4132601 26619011
Medulloblastoma Medulloblastoma rs1589970134, rs587776578, rs587776579, rs17847577, rs111033171, rs80359604, rs80358785, rs80358814, rs863224925, rs1555950011, rs1554231278, rs926177767, rs759412460, rs1564032829, rs761911009 26619011
Melanoma Cutaneous Melanoma rs121913315, rs121913323, rs137853080, rs137853081, rs121909232, rs121913388, rs104894094, rs1563902635, rs104894095, rs104894097, rs104894098, rs104894099, rs104894109, rs137854599, rs11547328, rs104894340, rs398123152, rs587780668, rs587782083, rs587782206, rs587782792, rs180177042, rs121913381, rs730881675, rs730881674, rs730881677, rs730881673, rs1800586, rs768966657, rs587778189, rs786204195, rs121913321, rs45476696, rs864622636, rs864622263, rs869025340, rs876660436, rs876658534, rs876658556, rs878853647, rs878853644, rs878853650, rs886041162, rs121913389, rs1057519852, rs121913384, rs121913387, rs1060501266, rs1060501263, rs1060501262, rs749714198, rs1060501265, rs559848002, rs1064794292, rs1131691187, rs1131691186, rs199907548, rs1554654052, rs1554656411, rs1554656624, rs1554653915, rs1554653956, rs1554656253, rs1554654224, rs754806883, rs1057520039, rs1563889584, rs1563889685, rs1287464120, rs1563888944, rs1563892715, rs1563889847, rs141798398, rs1587332338, rs1587340291, rs11552823, rs561034503, rs138677674, rs1819962958, rs1820531050 26619011
Myelodysplastic syndrome MYELODYSPLASTIC SYNDROME rs193303018, rs387906631, rs1576745225, rs373145711, rs752746786, rs377023736, rs373221034, rs1576749014, rs1600586587 26619011
Unknown
Disease name Disease term dbSNP ID References
Mammary neoplasms Mammary Neoplasms 26619011
Lymphocytic leukemia Chronic Lymphocytic Leukemia 26619011
Liver carcinoma Liver carcinoma 26619011
Pancreatic adenocarcinoma Adenocarcinoma of pancreas rs121908291, rs139375029, rs587780197, rs587780198, rs587780200, rs374741161, rs368806050, rs113676921, rs587780753, rs550499593, rs143544548, rs587780754, rs587780755, rs587780756, rs114593924, rs587780757, rs587780758, rs532961259, rs587780759, rs535155432, rs543821321, rs587780760, rs587780761, rs368350042, rs368890611, rs200060953, rs559000839, rs587780762, rs142116575, rs150764613, rs62333013, rs59633770, rs370602081, rs759105985, rs535118290, rs528879194, rs863224705, rs758706279, rs780516159, rs863224383, rs863224384, rs777359545, rs863224385, rs570874237, rs863224386, rs753092219, rs769161509, rs143417961, rs140360991, rs201707558, rs863224702, rs754158038, rs863224382, rs761530979, rs780692056, rs863224703, rs114250766, rs113515140, rs863224704, rs561750970, rs864622627, rs864622590, rs864622422, rs864622140, rs730882137, rs864622087, rs864622226, rs864622591, rs864622321, rs864622158, rs864622531, rs767729090, rs749041581, rs768485147, rs864622234, rs864622355, rs864622316, rs864622388, rs764242515, rs778134231, rs771679229, rs746599370, rs551131343, rs878854264, rs878854265, rs878854266, rs878854267, rs878854268, rs376654786, rs373500403, rs114171764, rs376394488, rs61051061, rs1806729, rs548068667, rs781516286, rs1059444, rs750112132, rs7673220, rs1060502975, rs778471055, rs925242863, rs143717202, rs372414187, rs927644209, rs764265611, rs1060502976, rs554297134, rs997146277, rs1060502974, rs1060504775, rs200020758, rs1060502973, rs777453756, rs952110792, rs1553965295, rs1553973196, rs1177108180, rs1477864263, rs368472947, rs182571219, rs1553984987, rs1263751006, rs201979617, rs1358006173, rs151071844, rs115937217, rs568490721, rs189021816, rs1319983866, rs1553965480, rs1553969553, rs1385898569, rs1553965526, rs1553968628, rs763802548, rs752296365, rs1553965214, rs1474793366, rs1553965326, rs778313832, rs1318598425, rs1470434769, rs755223646, rs557697540, rs747702421, rs1560940853, rs1560839872, rs1216822754, rs751364707, rs372708613, rs1560929667, rs1306250811, rs774034818, rs551420048, rs1581871066, rs1221751077, rs1220928329, rs759161069, rs757164572, rs115274645, rs769973229, rs115988233, rs767384375, rs778210310, rs1305250587, rs1239099971, rs1025237623, rs1211489449, rs900642927, rs1400689367, rs140584890, rs757885388, rs1231114395, rs996343137, rs1275232115, rs1046350904, rs762267147, rs373066707, rs867266337, rs1460784357, rs748432333, rs769517051, rs1560937938, rs750033888, rs781065277, rs1751999027, rs1246689760, rs1752077261, rs1754079127, rs1754736103, rs1757056910, rs114673468, rs756934356, rs1176026649, rs1762161869, rs200399043, rs1447433925, rs1389221540, rs893660432, rs1762582426 26619011

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