SF3B2 - splicing factor 3b subunit 2 Gene

Homo sapiens

Also known as CFM; Cus1; SF3b1; SAP145; SF3B145; SF3b150

Gene ID: 10992 | Gene type: protein coding

About SF3B2

Cytogenetic location: 11q13.1 Genomic coordinates (GRCh38): 11:66,052,364-66,069,308 (from NCBI)

This gene has 16 transcripts (splice variants), 200 orthologues and is associated with 1 phenotype. Ubiquitous expression in testis (RPKM 65.1), ovary (RPKM 47.8) and 25 other tissues.

Summary

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]

SF3B2 Products(1)

mRNA	Protein	Name
NM_006842.3	NP_006833.2	splicing factor 3B subunit 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	16189514	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in mRNA splicing, via spliceosome	IDA IDA: Inferred from direct assay	27720643	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of U12-type spliceosomal complex	IDA IDA: Inferred from direct assay	15146077	GOA
part of U2-type precatalytic spliceosome	IDA IDA: Inferred from direct assay	29360106	GOA
part of U2-type spliceosomal complex	IDA IDA: Inferred from direct assay	32494006	GOA
part of U2-type spliceosomal complex	IPI IPI: Inferred from physical interaction	27720643	GOA
part of catalytic step 2 spliceosome	IDA IDA: Inferred from direct assay	11991638	GOA
located in nucleus	IDA IDA: Inferred from direct assay	27720643	GOA
part of spliceosomal complex	IDA IDA: Inferred from direct assay	9731529	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SF3B2 Protein Structure

SAP

DUF382

PSP

0
200
400
600
800
895 a.a.

Protein Preferred Names

Protein Names

splicing factor 3B subunit 2

SAP 145

Related Diseases

Diseases

Alias

Craniofacial Microsomia

Goldenhar Syndrome	Hemifacial Microsomia
Oculoauriculovertebral Spectrum	Oavs
Oculo-Auriculo-Vertebral Spectrum	CFM
Oav Dysplasia	Facioauriculovertebral Sequence
Fav Sequence	First And Second Branchial Arch Syndrome
Otomandibular Dysostosis	Hfm
Oculoauriculovertebral Dysplasia	Facio-Auriculo-Vertebral Spectrum
Facioauriculovertebral Dysplasia	Oculo-Auriculo-Vertebral Dysplasia
First Arch Syndrome	Oav Dysplasia
Goldenhar Disease	Expanded Spectrum Hemifacial Microsomia
Expanded Spectrum Of Hemifacial Microsomia	Oculoauriculovertebral Syndrome
Oavd	Asymmetric Hypoplasia Of Facial Structures
Auriculobranchiogenic Dysplasia	Fav
First And Second Pharyngeal Arch Syndromes	Goldenhar-Gorlin Syndrome
Lateral Facial Dysplasia	Oav Complex
Oral-Mandibular-Auricular Syndrome	Unilateral Intrauterine Facial Necrosis
Unilateral Mandibulofacial Dysostosis	Oav Spectrum
Oculoauricular Vertebral Dysplasia	Microsomia, Hemifacial
Goldenhar Syndrome With Ipsilateral Radial Defect

Pancreatic Adenocarcinoma

Adenocarcinoma Of The Pancreas	Adenocarcinoma Of Pancreas
Pancreas Adenocarcinoma	Malignant Exocrine Neoplasm
Primary Pancreatic Adenocarcinoma	Adenocarcinoma Of Islet Cell Of Pancreas
Islet Cell Adenocarcinoma Of Unspecified Site	Mixed Adenocarcinoma Islet Cell With Exocrine Of Unspecified Site

Myelodysplastic Syndrome

Myelodysplastic Syndromes	Myelodysplasia
MDS	Myelodysplastic Syndrome Included
Myelodysplastic Syndrome, Susceptibility To, Included	Myelodysplastic Syndrome, Somatic
Myelodysplastic Syndrome, Susceptibility To

Renal Cell Carcinoma, Papillary, 1

Papillary Renal Cell Carcinoma	Hereditary Papillary Renal Cell Carcinoma
Papillary Renal Cell Carcinoma, Sporadic	Papillary Renal Cell Adenocarcinoma
RCCP	RCCP1
Renal Cell Carcinoma, Papillary	Renal Cell Carcinoma, Papillary, 1, Familial And Somatic
Chromophil Carcinoma Of Kidney	Papillary Kidney Carcinoma
Sporadic Papillary Renal Cell Carcinoma	Chromophil Renal Cell Carcinoma
Papillary Renal Carcinoma, Malignant -	Papillary Renal Cell Carcinoma, Bilateral -
Papillary Renal Cell Carcinoma, Familial -	Papillary Renal Cell Carcinoma, Multiple -
Papillary Renal Cell Carcinoma, Sporadic -	Renal Adenocarcinoma
Chromophil Rcc	Hprcc
Renal Cell Carcinoma Papillary	Chromophilic Renal Cell Carcinoma
Prcc	Carcinoma, Renal Cell, Papillary, Type 1
Type 1 Papillary Renal Cell Carcinoma	Renal Cell Carcinoma
Hereditary Papillary Renal Carcinoma

Medulloblastoma

MDB	Cpnet
Localized Primitive Neuroectodermal Tumor	Classic Medulloblastoma
Medulloblastoma Predisposition Syndrome	Medulloblastoma, Somatic
Brain Medulloblastoma	Cns Pnet
Infratentorial Primitive Neuroectodermal Tumor	Neuroectodermal Tumors, Primitive
Medulloblastomas	Desmoplastic Medulloblastoma
Medulloblastoma, With Extensive Nodularity	Medulloblastoma Of Unspecified Site
Medullomyoblastoma Of Unspecified Site

Skin Melanoma

Cutaneous Melanoma	Malignant Ear Melanoma
Malignant Lip Melanoma	Malignant Lower Limb Melanoma
Malignant Melanoma Of Ear And/Or External Auricular Canal	Malignant Melanoma Of Skin Of Lower Limb
Malignant Melanoma Of Skin Of Trunk Except Scrotum	Malignant Melanoma Of Skin Of Upper Limb
Malignant Neck Melanoma	Malignant Scalp Melanoma
Malignant Trunk Melanoma	Malignant Upper Limb Melanoma
Melanoma, Cutaneous Malignant	Melanoma
Malignant Melanoma Of Skin	Melanoma Nos
Malignant Mole, Meaning Melanoma Of Unspecified Site	Melanoma Of Unspecified Site
Cutaneous Malignant Melanoma	Mm - [Malignant Melanoma]

Leukemia, Chronic Lymphocytic

Chronic Lymphocytic Leukemia	B-Cell Chronic Lymphocytic Leukemia
CLL	B-Cell Chronic Lymphoid Leukemia
Chronic Lymphatic Leukemia	Chronic Lymphocytic Leukaemia
Lymphoplasmacytic Leukemia	Small Lymphocytic Lymphoma
Leukemia, Chronic Lymphatic	B-Cell Chronic Lymphocytic Leukaemia
Chronic Lymphatic Leukaemia	Lymphoplasmacytic Leukaemia
B Cell Chronic Lymphocytic Leukemia	Chronic B-Cell Lymphocytic Leukemia
Leukemia, Lymphocytic, Chronic	B-Cll
Chronic Lymphoid Leukemia	Leukemia Lymphocytic Chronic
Lymphoma Small Lymphocytic	Leukemia, Lymphocytic, Chronic, B-Cell

Renal Cell Carcinoma, Nonpapillary

Renal Cell Carcinoma	RCC
Nonpapillary Renal Cell Carcinoma	Clear Cell Renal Cell Carcinoma
Hypernephroma	Adenocarcinoma Of Kidney
Renal Carcinoma, Chromophobe, Somatic	Clear Cell Carcinoma Of Kidney
Clear-Cell Metastatic Renal Cell Carcinoma	Clear Cell Renal Carcinoma
Renal Cell Carcinoma, Somatic	Conventional Renal Cell Carcinoma
Conventional Renal Cell Carcinoma	Renal Clear Cell Carcinoma
Ccrcc	Hereditary Clear Cell Renal Cell Carcinoma
Carcinoma, Renal Cell	Renal Cell Carcinoma, Clear Cell, Somatic
Renal Cell Carcinoma, Clear Cell	Clear Cell Kidney Carcinoma
Clear Cell Rcc	Cystic-Multilocular Variant
Clear Cell Renal Cell Adenocarcinoma	Hereditary Clear Cell Renal Cell Adenocarcinoma
Common Renal Cell Carcinoma	Crcc
Renal Cell Carcinoma Non-Papillary	Carcinoma Renal Cell
Renal Cell Cancer	Carcinoma, Renal Cell, Nonpapillary

Leukemia, Acute Myeloid

Acute Myeloid Leukemia	Leukemia, Acute Myelogenous
Acute Myelogenous Leukemia	AML
Leukemia, Acute Myeloid, Susceptibility To	Acute Myeloblastic Leukemia
Leukemia, Acute Myeloid, Reduced Survival In, Somatic	Acute Myeloid Leukaemia
Leukemia, Myelocytic, Acute	Therapy Related Acute Myeloid Leukemia And Myelodysplastic Syndrome
Secondary Aml	Acute Myelocytic Leukemia
Acute Myeloid Leukemia, Somatic	Leukemia, Acute Myeloid, Somatic
Myeloid Leukemia, Acute, M4/M4eo Subtype, Somatic	Acute Myeloblastic Leukaemia
Acute Myelogenous Leukaemia	Aml - Acute Myeloid Leukemia
Acute Myeloid Leukemia With Cebpa Somatic Mutations	Aml With Cebpa Somatic Mutations
Inherited Acute Myeloid Leukemia	Familial Aml
Inherited Aml	Pure Familial Aml
Pure Familial Acute Myeloid Leukemia	Secondary Acute Myeloid Leukemia
Therapy-Related Aml And Myelodysplastic Syndrome	Acute Myeloid Leukemia, Secondary
Acute Non-Lymphoblastic Leukemia	Acute Non-Lymphocytic Leukemia
Acute Biphenotypic Leukemia	Acute Undifferentiated Leukemia
Acute Myeloblastic Leukaemia With Multilineage Dysplasia	Acute Myeloid Leukaemia With Multilineage Dysplasia Without Mention Of Remission
Acute Myeloid Leukaemia With Myelodysplasia-Related Features

Hepatocellular Carcinoma

Liver Cancer	Primary Liver Cancer
HCC	Hepatoma
Malignant Neoplasm Of Liver	Liver Neoplasms
Cancer, Hepatocellular	Liver Cell Carcinoma
Lcc	Hepatoblastoma, Somatic
Hepatic Cancer	Primary Malignant Neoplasm Of Liver
Rare Tumor Of Liver And Intrahepatic Biliary Tract	Hepatocellular Carcinoma, Somatic
Hepatocellular Carcinoma, Childhood Type, Somatic	Hepatocellular Cancer, Somatic
Ca Liver - Primary	Hepatic Neoplasm
Malignant Hepato-Biliary Neoplasm	Malignant Neoplasm Of Liver, Not Specified As Primary Or Secondary
Malignant Neoplasm Of Liver, Primary	Malignant Tumor Of Liver
Neoplasm Of Liver	Non-Resectable Primary Hepatic Malignant Neoplasm
Resectable Malignant Neoplasm Of Liver	Resectable Malignant Neoplasm Of The Liver
Primary Liver Carcinoma	Primary Malignant Liver Neoplasm
Primary Cancer Of Liver	Primary Tumor Of The Liver
Rare Tumor Of Liver And Ibt	Hepatocellular Cancer
Neoplasm Of The Liver	Carcinoma, Hepatocellular
Hepatomas	Liver Neoplasm
Liver Carcinoma	Liver And Intrahepatic Biliary Tract Carcinoma
Malignant Hepatobiliary Neoplasm	Adult Primary Hepatocellular Carcinoma
Hepatoblastoma	Carcinoma Of Liver
Malignant Liver Tumour	Malignant Hepatic Tumour

Acrofacial Dysostosis 1, Nager Type

Nager Syndrome	Nager Acrofacial Dysostosis
AFD1	Preaxial Acrofacial Dysostosis
Mandibulofacial Dysostosis, Treacher Collins Type, With Limb Anomalies	Afd, Nager Type
Nager Acrofacial Dysostosis Syndrome	Nafd
Acrofacial Dysostosis, Nager Type	Afd
Preaxial Manibulofacial Dysostosis	Split Hand Deformity-Mandibulofacial Dysostosis
Preaxial Mandibulofacial Dysostosis	Mandibulofacial Dysostosis With Preaxial Limb Anomalies
Preaxial Acrodysostosis	Afd Nager Type
Mandibulofacial Dysostosis Treacher Collins Type With Limb Anomalies

Trichothiodystrophy

Ttd	Amish Brittle Hair Syndrome
Bids Syndrome	Brittle Hair-Intellectual Impairment-Decreased Fertility-Short Stature Syndrome
Ibids	Pibids
Trichothiodystrophy Syndromes

Breast Cancer

Breast Carcinoma	Male Breast Cancer
Breast Cancer, Familial	Malignant Neoplasm Of Breast
Breast Cancer, Susceptibility To	Breast Cancer, Early-Onset
Malignant Tumor Of Breast	Carcinoma Of Male Breast
Breast Cancer, Invasive Ductal	Breast Cancer, Protection Against
Breast Cancer, Somatic	Breast Cancer, Male
Breast Cancer, Lobular, Somatic	Breast Tumor
Mammary Cancer	Mammary Tumor
Malignant Neoplasm Of Male Breast	Mammary Carcinoma
Male Breast Carcinoma	Familial Cancer Of Breast
Invasive Ductal Breast Carcinoma	Breast Cancer Susceptibility
Breast Cancer, Male, Susceptibility To	Breast Cancer, Early-Onset, Susceptibility To
Malignant Tumor Of The Breast	Mammary Neoplasm
Primary Breast Cancer	Neoplasm Of Male Breast
Carcinoma Of Breast	Breast Cancer In Men
Familial Breast Cancer	Cancer Of Breast
BC	Breast Cancer Familial
Breast Cancer Familial Male	Breast Cancer, Familial Male
Breast Male Carcinoma	Breast Neoplasms
Breast Neoplasms, Male	Mammary Tumors
Mammary Carcinomas	Cancer, Breast
Cancer, Breast, Susceptibility	Invasive Breast Ductal Carcinoma
Breast Neoplasm	Susceptibility To Breast Cancer
Mammary Neoplasms	Animal Mammary Neoplasms
Primary Malignant Neoplasm Of Breast	Infiltrating Ductal Carcinoma Of Breast
Infiltrating Duct Carcinoma Of Unspecified Site	Infiltrating Ductular Carcinoma Of Unspecified Site
Invasive Breast Carcinoma Of No Special Type	Microinvasive Carcinoma Of Breast
Carcinoma With Apocrine Differentiation

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12761	SF3B2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	SF3B2	VGNC	VGNC:34510
Macaca mulatta	SF3B2	VGNC	VGNC:77180
Canis familiaris	SF3B2	VGNC	VGNC:46070
Mus musculus	SF3B2	MGD	MGI:2441856
Rattus norvegicus	SF3B2	RGD	RGD:1307159
Felis catus	SF3B2	VGNC	VGNC:65056

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