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SF3B2 Gene

protein-coding GIFtS: 59
GCID: GC11P065827

Splicing Factor 3b, Subunit 2, 145kDa

(Previous names: splicing factor 3b, subunit 2, 145kD)

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disease database

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
About This Section

Aliases
Splicing Factor 3b, Subunit 2, 145kDa¹ ²		Splicing Factor 3b, Subunit 2, 145kD¹
SAP145² ³ ⁵		Cus1²
Pre-MRNA-Splicing Factor SF3b 145 KDa Subunit² ³		SF3b1²
Spliceosome-Associated Protein 145² ³		Pre-MRNA Splicing Factor SF3b 145 KDa Subunit²
SF3b150² ³		Spliceosome Associated Protein 145²
SAP 145² ³		Splicing Factor 3B Subunit 2²
SF3B145² ⁵		SF3b145³

External Ids:	HGNC: 10769¹	Entrez Gene: 10992²	Ensembl: ENSG00000087365⁷	OMIM: 605591⁵	UniProtKB: Q13435³

Export aliases for SF3B2 gene to outside databases

Previous GC identifers: GC11P068353 GC11P067501 GC11P066069 GC11P065594 GC11P065576 GC11P065825 GC11P062145

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SF3B2 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-mRNA upstream of the intron's branch site in a sequence-independent manner and may

anchor the U2 snRNP to the pre-mRNA. Splicing factor 3b is also a component of the minor U12-type spliceosome.

Subunit 2 associates with pre-mRNA upstream of the branch site at the anchoring site. Subunit 2 also interacts

directly with subunit 4 of the splicing factor 3b complex. Subunit 2 is a highly hydrophilic protein with a

proline-rich N-terminus and a glutamate-rich stretch in the C-terminus. (provided by RefSeq, Jul 2008)

GeneCards Summary for SF3B2 Gene:

SF3B2 (splicing factor 3b, subunit 2, 145kDa) is a protein-coding gene. GO annotations related to this gene include nucleic acid binding.

UniProtKB/Swiss-Prot: SF3B2_HUMAN, Q13435

Function: Subunit of the splicing factor SF3B required for 'A' complex assembly formed by the stable binding of U2

snRNP to the branchpoint sequence (BPS) in pre-mRNA. Sequence independent binding of SF3A/SF3B complex upstream

of the branch site is essential, it may anchor U2 snRNP to the pre-mRNA. May also be involved in the assembly of

the 'E' complex. Belongs also to the minor U12-dependent spliceosome, which is involved in the splicing of rare

class of nuclear pre-mRNA intron

Gene Wiki entry for SF3B2 Gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence at NCBI GenBank:

NC_000011.9 NT_167190.2 NC_018922.2

Regulatory elements:

Regulatory transcription factor binding sites in the SF3B2 gene promoter:
Max1 RFX1 NF-1/L NF-1 Elk-1 Pax-5 AP-1 ATF-2 MIF-1 c-Jun
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: SF3B2 promoter sequence

Search Chromatin IP Primers for SF3B2

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SF3B2

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11q13.1 Ensembl cytogenetic band: 11q13.1 HGNC cytogenetic band: 11q13

SF3B2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SF3B2 gene location

GeneLoc information about chromosome 11 GeneLoc Exon Structure

GeneLoc location for GC11P065827: view genomic region (about GC identifiers)

Start:	65,818,200 bp from pter	End:	65,836,779 bp from pter
Size:	18,580 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, antibodies-online, and/or GeneTex,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
About This Section

UniProtKB/Swiss-Prot: SF3B2_HUMAN, Q13435 (See protein sequence)

Recommended Name: Splicing factor 3B subunit 2

Size: 895 amino acids; 100228 Da

Subunit: Identified in the spliceosome C complex. Component of the U11/U12 snRNPs that are part of the U12-type

spliceosome. Component of splicing factor SF3B which is composed of at least eight subunits;

SF3B1/SAP155/SF3B155, SF3B2/SAP145/SF3B145, SF3B3/SAP130/SF3B130, SF3B4/SAP49/SF3B49, SF3B14A, PHF5A/SF3B14B,

SF3B10 and SF3B125. SF3B associates with the splicing factor SF3A and a 12S RNA unit to form the U2 small nuclear

ribonucleoproteins complex (U2 snRNP). SF3B2 interacts directly with SF3B4. Interacts with HIV-1 Vpr

Sequence caution: Sequence=AAA97461.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

Sequence=AAA97461.1; Type=Frameshift; Positions=28; Sequence=AAH53577.1; Type=Miscellaneous discrepancy;

Note=Contaminating sequence. Potential poly-A sequence; Sequence=BAG61831.1; Type=Erroneous initiation;

Note=Translation N-terminally extended;

1 PDB 3D structure from and Proteopedia for SF3B2:

2DO5 (3D)

Secondary accessions: A8K485 B4DT19 Q7L4T5 Q7Z627 Q969K1 Q96CM6 Q9BWD2

Explore the universe of human proteins at neXtProt for SF3B2: NX_Q13435

Explore proteomics data for SF3B2 at MOPED

Post-translational modifications:

Ubiquitination² at Lys275, Lys280, Lys466, Lys486, Lys492, Lys529, Lys570, Lys577, Lys790

Modification sites at PhosphoSitePlus

See SF3B2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_006833.2

ENSEMBL proteins:

ENSP00000432655 ENSP00000318861 ENSP00000435495 ENSP00000431908 ENSP00000431520

ENSP00000435765 ENSP00000436757

Reactome Protein details: Q13435

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GenesLikeMe)
About This Section

3 InterPro protein domains:

IPR006568 PSP

IPR007180 DUF382

IPR003034 SAP_dom

Graphical View of Domain Structure for InterPro Entry Q13435

ProtoNet protein and cluster: Q13435

2 Blocks protein domains:

IPB003034 DNA-binding SAP

IPB006568 PSP

UniProtKB/Swiss-Prot: SF3B2_HUMAN, Q13435

Similarity: Contains 1 SAP domain

Find genes that share domains with SF3B2 About GenesLikeMe

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: SF3B2_HUMAN, Q13435

Function: Subunit of the splicing factor SF3B required for 'A' complex assembly formed by the stable binding of U2

snRNP to the branchpoint sequence (BPS) in pre-mRNA. Sequence independent binding of SF3A/SF3B complex upstream

of the branch site is essential, it may anchor U2 snRNP to the pre-mRNA. May also be involved in the assembly of

the 'E' complex. Belongs also to the minor U12-dependent spliceosome, which is involved in the splicing of rare

class of nuclear pre-mRNA intron

Gene Ontology (GO): 3 molecular function terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003676	nucleic acid binding	--	--
GO:0005515	protein binding	IPI	16189514
GO:0044822	poly(A) RNA binding	IDA	--

Find genes that share ontologies with SF3B2 About GenesLikeMe

Phenotypes:
4 GenomeRNAi human phenotypes for SF3B2:

Decreased influenza A virus in

Decreased viability

Decreased viability of wild-ty

Increased gamma-H2AX phosphory

Animal Models:

genOway: Develop your customized and physiologically relevant rodent model for SF3B2

miRNA Products:		miRTarBase miRNAs that target SF3B2: hsa-mir-484 (MIRT041928), hsa-mir-331-3p (MIRT043563), hsa-mir-193b-3p (MIRT041282), hsa-mir-93-3p (MIRT038862), hsa-mir-324-5p (MIRT043182), hsa-mir-26b-5p (MIRT029398), hsa-mir-18a-3p (MIRT040893), hsa-mir-877-3p (MIRT036927), hsa-mir-615-3p (MIRT039791), hsa-mir-342-3p (MIRT043738)

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In Situ Assay
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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
About This Section

Subcellular locations from UniProtKB/Swiss-Prot

SF3B2_HUMAN, Q13435: Nucleus (By similarity)

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
nucleus	5
cytosol	2

About this image

Gene Ontology (GO): Selected cellular component terms (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IDA	--
GO:0005654	nucleoplasm	TAS	--
GO:0005681	spliceosomal complex	IDA	9731529
GO:0005689	U12-type spliceosomal complex	IDA	15146077
GO:0005730	NOT nucleolus	IDA	--

Find genes that share ontologies with SF3B2 About GenesLikeMe

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GenesLikeMe, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
About This Section

SuperPaths for SF3B2 About

See pathways by source

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by

SuperPath

Contained pathways About

mRNA Splicing - Major Pathway

mRNA Splicing - Major Pathway	0.78	mRNA processing	0.44
mRNA Splicing	0.78	mRNA Splicing - Minor Pathway	0.38
Processing of Capped Intron-Containing Pre-mRNA	0.78

Gene Expression

Gene Expression

0.40

Spliceosome

Spliceosome

Find genes that share SuperPaths with SF3B2 About GenesLikeMe

Pathways by source See SuperPaths
Show all pathways

1 BioSystems Pathway for SF3B2

mRNA processing

2 Reactome Pathways for SF3B2

	mRNA Splicing - Major Pathway
	mRNA Splicing - Minor Pathway

1 Kegg Pathway (Kegg details for SF3B2):

Spliceosome

Custom Pathway & Disease-focused RT² Profiler PCR Arrays for SF3B2
Interactions:

GeneGlobe Interaction Network for SF3B2

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

Selected Interacting proteins for SF3B2 (Q13435^{1, 2, 3} ENSP00000318861⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 978)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
SF3B4	Q15427¹^,²^,³, ENSP00000271628⁴	EBI-749111,EBI-348469 MINT-7945693 MINT-8332328 MINT-8333515 I2D: score=5 STRING: ENSP00000271628
SF3B1	O75533²^,³, ENSP00000335321⁴	MINT-7945693 MINT-6488590 MINT-6489355 MINT-7947479 MINT-8207078 I2D: score=1 STRING: ENSP00000335321
PRPF8	Q6P2Q9¹^,², ENSP00000304350⁴	EBI-749111,EBI-538479 MINT-7945693 MINT-8333548 MINT-8331789 MINT-7947479 MINT-8332339 STRING: ENSP00000304350
SF3A2	Q15428²^,³, ENSP00000221494⁴	MINT-5205476 MINT-7947479 I2D: score=2 STRING: ENSP00000221494
SRRM1	Q8IYB3²^,³, ENSP00000326261⁴	MINT-7945693 MINT-7947479 I2D: score=1 STRING: ENSP00000326261

About this table

Gene Ontology (GO): Selected biological process terms (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000398	mRNA splicing, via spliceosome	TAS	--
GO:0006397	mRNA processing	TAS	8566756
GO:0008380	RNA splicing	TAS	--
GO:0010467	gene expression	TAS	--
GO:0016032	viral process	IEA	--

Find genes that share ontologies with SF3B2 About GenesLikeMe

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, Sets of similar genes according to GenesLikeMe)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

Browse Tocris compounds for SF3B2

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
About This Section

REFSEQ mRNAs for SF3B2 gene (2 alternative transcripts):

NM_006842.2 XM_005273726.1

Unigene Cluster for SF3B2:

Splicing factor 3b, subunit 2, 145kDa

Hs.406423 [show with all ESTs]

Unigene Representative Sequence: NM_006842

16 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000529577 ENST00000534307 ENST00000528302 ENST00000322535(uc001ogx.1 uc001ogy.1)

ENST00000524627 ENST00000533595 ENST00000531041 ENST00000531589 ENST00000530322

ENST00000524475 ENST00000533421 ENST00000526653 ENST00000525207 ENST00000529994

ENST00000530981 ENST00000534765

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		QuantiFast Probe-based Assays in human, mouse, rat SF3B2

Additional mRNA sequence:

AK290850.1 AK300016.1 BC000401.2 BC007610.1 BC014125.2 BC051237.1 BC053577.1 BX537771.1

U41371.1

Selected DOTS entries (see all 31):

DT.99980629 DT.448681 DT.100059644 DT.100660663 DT.100660660 DT.95272329 DT.95310541 DT.95272343

DT.100660666 DT.102835748 DT.433578 DT.95272323 DT.86841098 DT.100660665 DT.95259573 DT.100803108

DT.100863040 DT.120715150 DT.91832863 DT.92391931 DT.95107061 DT.95180310 DT.95235736 DT.95272332

Selected AceView cDNA sequences (see all 854):

BQ882957 BU618311 CA417860 U41371 BM993285 BM787595 BE891403 BQ070437

BU500428 BQ944912 BM564647 BM825401 BQ068595 BG940336 BQ679019 CD678819

CD244364 BU860388 BM844726 CF125790 BU165937 BU932073 BU539359 BQ650350

GeneLoc Exon Structure

Selected Alternative Splicing Database (ASD) splice patterns (SP) for SF3B2 (see all 11) About this scheme

ExUns:	1a	·	1b	·	1c	·	1d	·	1e	^	2	^	3	^	4a	·	4b	·	4c	·	4d	^	5	^	6a	·	6b	^	7a	·	7b	^	8	^	9a	·	9b	^	10a	·	10b	·	10c	·	10d	^	11	^	12	^	13a	·
SP1:																					-																-		-
SP2:																					-						-		-		-		-				-		-
SP3:																					-
SP4:																					-
SP5:																					-																-		-

ExUns:	13b	^	14	^	15	^	16a	·	16b	^	17	^	18	^	19	^	20	^	21	^	22a	·	22b
SP1:
SP2:
SP3:
SP4:
SP5:

ECgene alternative splicing isoforms for SF3B2

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GenesLikeMe, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

SF3B2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: TTCTTATTTT

About this image

SF3B2 expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database
selected tissues (see all 21) fully expand


Brain (Nervous System) fully expand to see all 4 entries
Cerebral Cortex

Ovary (Reproductive System) fully expand to see all 2 entries
Ovarian Mesenchymal Stroma Cells Ovary Interstitium
Oviduct

Testis (Reproductive System)
Leydig Cells Testis Interstitium

Limb (Muscoskeletal System)
Limb Bud

Trophoblast (Extraembryonic Tissues)
Trophoblast Cells Trophoblast

SF3B2 Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

SF3B2 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.406423

Custom PCR Arrays for SF3B2

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In Situ
Assay Products:

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for SF3B2 gene from Selected species (see all 22) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Sf3b2^{1 , 5}	splicing factor 3b, subunit 2^{1, 5}	89.67(n)¹ 97.72(a)¹		19 (4.29 cM)⁵ 319322¹ NM_030109.2¹ NP_084385.2¹ 5273923⁵
lizard (Anolis carolinensis)	Reptilia	SF3B2⁶	splicing factor 3b, subunit 2, 145kDa	67(a)	1 ↔ 1	GL343832.1(8885-37047)
African clawed frog (Xenopus laevis)	Amphibia	Xl.6684²	Xenopus laevis transcribed sequence with moderate similarity more	77.22(n)		BU901097.1
zebrafish (Danio rerio)	Actinopterygii	wufb53c07²	wufb53c07	78.87(n)		322210 CA471036.1
fruit fly (Drosophila melanogaster)	Insecta	CG3605^{1 , 3}	mRNA splicing pre-mRNA splicing factor³ CG3605¹	64(a)³ 63.55(n)¹ 64.77(a)¹		23C5³ 33514¹ NM_134895.4¹ NP_608739.1¹
worm (Caenorhabditis elegans)	Secernentea	W03F9.10³ CELE_W03F9.10¹	CELE_W03F9.10¹	50(a)³ 57.79(n)¹ 54.83(a)¹		V(127982-129171)³ 178542¹ NM_070740.4¹ NP_503141.1¹
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	CUS1(YMR240C)⁴	Protein required for assembly of U2 snRNP into the more	--		13(751240-749930) 855281 NP_013967.1
thale cress (Arabidopsis thaliana)	eudicotyledons	AT4G21660¹	AT4G21660	56.47(n) 53.52(a)		828253 NM_001203860.1 NP_001190789.1
rice (Oryza sativa)	Liliopsida	Os.26501²	Oryza sativa (japonica cultivar-group) cDNA cloneJ more	71.9(n)		AK069159.1

ENSEMBL Gene Tree for SF3B2 (if available)
TreeFam Gene Tree for SF3B2 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68,Sets of similar genes according to GenesLikeMe)
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Paralogs for SF3B2 gene

1 SIMAP similar gene for SF3B2 using alignment to 7 protein entries: SF3B2_HUMAN (see all proteins):

DKFZp781L0540

Find genes that share paralogs with SF3B2 About GenesLikeMe

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
About This Section

SNP ID	Valid	Clinical significance	Chr 11 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs560105^1,2	C,F	--	65818832(-)	`AGAGGC/TAGAGA`	1	--	us2k¹		4		NA WA	124
rs139018715^1,2	C	--	65818888(+)	`GTGGGA/GCCCCC`	1	--	us2k¹		0	--	--	--	--
rs2241304^1,2	C,F,H	--	65819014(-)	`GCGTTC/TAAGAG`	1	--	us2k¹		6		NS EA WA	646
rs3217208^1,2	C	--	65819173(-)	`ATGTC-/GTC TTCTCCACTA`	1	--	us2k¹		0	--	--	--	--
rs75435957^1,2	F	--	65819193(+)	`GAGCCG/AGCCTG`	1	--	us2k¹		1		EA	120
rs72932682^1,2		--	65819281(+)	`TCTCCC/GGGCTT`	1	--	us2k¹		0	--	--	--	--
rs141956139^1,2		--	65819310(+)	`TTCATC/TCGGGC`	1	--	us2k¹		0	--	--	--	--
rs35878859^1,2	C	--	65819380(+)	`AGCCTC/TCCGCT`	1	--	us2k¹		1		NA	2
rs11299659^1,2	C	--	65819432(+)	`GGGAC-/TCCCTG`	1	--	us2k¹		0	--	--	--	--
rs146315015^1,2		--	65819444(+)	`GAGCGG/TAAGCG`	1	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for SF3B2 (65818200 - 65836779 bp)

Structural Variations
Database of Genomic Variants (DGV) 2 variations for SF3B2: About this table

Variant ID	Type	Subtype	PubMed ID
nsv897770	CNV	Loss	21882294
dgv1186n71	CNV	Loss	21882294

Site Specific Mutation Identification with PCR Assays

SeqTarget long-range PCR primers for resequencing SF3B2

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB, Sets of similar genes according to GenesLikeMe)
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OMIM gene information: 605591 OMIM disorders: --

Find genes that share disorders with SF3B2 About GenesLikeMe

Export disorders for SF3B2 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for SF3B2 gene, integrated from 10 sources (see all 87):
(articles sorted by number of sources associating them with SF3B2)

Evidence that sequence-independent binding of highly conserved U2 snRNP proteins upstream of the branch site is required for assembly of spliceosomal complex A. (PubMed id 8566756)^{1, 2, 3} Gozani O.... Reed R. (Genes Dev. 1996)
Human immunodeficiency virus type 1 Vpr induces G2 checkpoint activation by interacting with the splicing factor SAP145. (PubMed id 16923959)^{1, 2, 9} Terada Y. and Yasuda Y. (Mol. Cell. Biol. 2006)
Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)^{1, 2} Olsen J.V....Mann M. (Cell 2006)
The human 18S U11/U12 snRNP contains a set of novel proteins not found in the U2-dependent spliceosome. (PubMed id 15146077)^{1, 2} Will C.L.... Luehrmann R. (RNA 2004)
Purification and characterization of native spliceosomes suitable for three-dimensional structural analysis. (PubMed id 11991638)^{1, 2} Jurica M.S.... Moore M.J. (RNA 2002)
Characterization of novel SF3b and 17S U2 snRNP proteins, including a human Prp5p homologue and an SF3b DEAD-box protein. (PubMed id 12234937)^{1, 2} Will C.L.... Luehrmann R. (EMBO J. 2002)
Functional association of U2 snRNP with the ATP-independent spliceosomal complex E. (PubMed id 10882114)^{1, 2} Das R.... Reed R. (Mol. Cell 2000)
The prespliceosome components SAP 49 and SAP 145 interact in a complex implicated in tethering U2 snRNP to the branch site. (PubMed id 7958871)^{1, 9} Champion-Arnaud P. and Reed R. (Genes Dev. 1994)
Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)¹ Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
A Y2H-seq approach defines the human protein methyltransferase interactome. (PubMed id 23455924)¹ Weimann M.... Stelzl U. (Nat. Methods 2013)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 10992	HGNC: 10769	AceView: SF3B2	Ensembl:ENSG00000087365	euGenes: HUgn10992
ECgene: SF3B2	Kegg: 10992	H-InvDB: SF3B2

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for SF3B2	Pharmacogenomics, SNPs, Pathways

Intellectual Property for SF3B2 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for SF3B2 gene:
Search GeneIP for patents involving SF3B2

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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Splicing Factor 3b, Subunit 2, 145kDa

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Splicing Factor 3b, Subunit 2, 145kDa

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