SRSF2 - serine and arginine rich splicing factor 2 Gene

Homo sapiens

Also known as SC35; PR264; SC-35; SFRS2; SFRS2A; SRp30b

Gene ID: 6427 | Gene type: protein coding

About SRSF2

Cytogenetic location: 17q25.1 Genomic coordinates (GRCh38): 17:76,734,115-76,737,411 (from NCBI)

This gene has 11 transcripts (splice variants), 226 orthologues, 3 paralogues and is associated with 81 phenotypes. Ubiquitous expression in bone marrow (RPKM 91.7), lymph node (RPKM 69.7) and 25 other tissues.

Summary

The protein encoded by this gene is a member of the serine/arginine (SR)-rich family of pre-mRNA splicing factors, which constitute part of the spliceosome. Each of these factors contains an RNA recognition motif (RRM) for binding RNA and an RS domain for binding Other proteins. The RS domain is rich in serine and arginine residues and facilitates interaction between different SR splicing factors. In addition to being critical for mRNA splicing, the SR proteins have also been shown to be involved in mRNA export from the nucleus and in translation. Two transcript variants encoding the same protein and one non-coding transcript variant have been found for this gene. In addition, a pseudogene of this gene has been found on chromosome 11. [provided by RefSeq, Sep 2010]

SRSF2 Products(2)

mRNA	Protein	Name
NM_001195427.2	NP_001182356.1	serine/arginine-rich splicing factor 2
NM_003016.4	NP_003007.2	serine/arginine-rich splicing factor 2

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	9237760	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
NOT located in PML body	IDA IDA: Inferred from direct assay	15652350	GOA
located in nuclear speck	IDA IDA: Inferred from direct assay	12799190	GOA
located in nucleus	IDA IDA: Inferred from direct assay	15652350	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

SRSF2 Protein Structure

RRM_1

0
100
200
221 a.a.

Protein Preferred Names

Protein Names

serine/arginine-rich splicing factor 2

SR splicing factor 2

SRSF2 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	SRSF2	Q01130	KAT5	Homo sapiens	Q92993	Anti Tag CoIP	21157427
Intra	SRSF2	Q01130	CIR1	Homo sapiens	Q86X95	IF	15652350
Intra	SRSF2	Q01130	CIR1	Homo sapiens	Q86X95	Anti Tag CoIP	15652350
Intra	SRSF2	Q01130	U2AF1	Homo sapiens	Q01081	FRET	18559666
Intra	SRSF2	Q01130	RANGRF	Homo sapiens	Q9HD47	Anti Tag CoIP	33961781

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Aggressive Systemic Mastocytosis

Asm	Lymphadenopathic Mastocytosis With Eosinophilia

Systemic Mastocytosis With Associated Hematologic Neoplasm

Systemic Mastocytosis With An Associated Clonal Hematologic Non-Mast Cell Lineage Disease	Sm-Ahn
Sm-Ahnmd	Systemic Mastocytosis With Associated Clonal, Hematologic Non-Mast-Cell Lineage Disease

Chronic Myelomonocytic Leukemia

Leukemia, Myelomonocytic, Chronic	Cmml
Leukemia Myelomonocytic Chronic	Cmml - [Chronic Myelomonocytic Leukaemia]
Chronic Myelomonocytic Leukaemia Without Mention Of Remission	Chronic Monocytic Leukaemia
Chronic Monocytoid Leukaemia

Acute Megakaryoblastic Leukemia In Down Syndrome

Ds-Amkl

Mastocytosis, Cutaneous

Urticaria Pigmentosa	Cutaneous Mastocytosis
Diffuse Cutaneous Mastocytosis	Maculopapular Cutaneous Mastocytosis
Mastocytosis, Diffuse Cutaneous	MASTC
Mastocytosis, Maculopapular Cutaneous	Mastocytosis, Systemic, Somatic
Mastocytoma	Dcm
Diffuse Cutaneous Maculopapulous Mastocytosis	Up/Mpcm
Cm	Mastocytosis, Systemic
MASTSYS	Mast Cell Disease
Mast-Cell Disease	Mast Cell Leukemia
Mastocytosis, Indolent	Mastocytosis With Associated Hematologic Disorder
Mast Cell Neoplasm	Benign Mastocytoma

Holt-Oram Syndrome

HOS	Atriodigital Dysplasia
Heart-Hand Syndrome	Atrio-Digital Syndrome
Cardiac-Limb Syndrome	Heart-Hand Syndrome, Type 1
Ventriculo-Radial Syndrome	Hos1
Heart Hand Syndrome	Atrio Digital Syndrome
Hos 1	Atriodigital Dysplasia Type 1
Heart-Hand Syndrome Type 1	Holt Oram Syndrome

Mastocytosis

Mast Cell Disease	Mast Cell Hyperplasia
Urticaria Pigmentosa	Malignant Mastocytoma
Malignant Mast Cell Tumours	Malignant Mastocytosis

Myelofibrosis

Primary Myelofibrosis	Agnogenic Myeloid Metaplasia
Idiopathic Myelofibrosis	Myeloid Metaplasia
Myelofibrosis With Myeloid Metaplasia	Osteomyelofibrosis
Megakaryocytic Myelosclerosis	Myelosclerosis
Chronic Idiopathic Myelofibrosis	Myelofibrosis, Idiopathic
Myelofibrosis With Myeloid Metaplasia, Somatic	Myelofibrosis, Somatic
Aleukemic Myelosis	Bone Marrow Fibrosis
MYELOF	MMM
Agnogenic Myeloid Metaplasia With Myelofibrosis	Ammm
Myelosclerosis With Myeloid Metaplasia	Myelofibrosis Nos

Myelophthisic Anemia

Myelophthisis	Anemia Leukoerythroblastic
Anemia, Leukoerythroblastic	Leukoerythroblastosis
Anemia, Myelophthisic	Leukoerythroblastic Anemia

Atypical Chronic Myeloid Leukemia, Bcr-Abl1 Negative

Atypical Chronic Myeloid Leukemia	Atypical Chronic Myeloid Leukaemia
Leukemia, Myeloid, Chronic, Atypical, Bcr-Abl Negative	Acml
Atypical Chronic Myeloid Leukaemia Bcr-Abl1 Negative	Atypical Chronic Myeloid Leukemia Bcr-Abl1 Negative
Atypical Cml	Subacute Myeloid Leukemia
Subacute Myelogenous Leukaemia	Subacute Myeloid Leukaemia
Subacute Myelosis	Atypical Chronic Myeloid Leukaemia, Bcr-Abl-Negative Without Mention Of Remission
Subacute Monocytic Leukaemia Without Mention Of Remission	Subacute Monocytic Leukaemia

Lactic Acidosis

Acidosis, Lactic

Acidosis Lactic

Chronic Leukemia

Adult Chronic Leukemia	Cll
Cml

Diamond-Blackfan Anemia 11

DBA11	Rpl26-Related Diamond-Blackfan Anemia
Anemia, Diamond-Blackfan, Type 11

Sm-Ahnmd

Systemic Mastocytosis With Associated Clonal, Hematologic Non-Mast-Cell Lineage Disease	Systemic Mastocytosis With Associated Clonal Haematological Non-Mast Cell Lineage Disease
Systemic Mastocytosis With Associated Clonal Hematological Non-Mast-Cell Lineage Disease

Myelodysplastic/Myeloproliferative Neoplasm

Myelodysplastic-Myeloproliferative Diseases	Myelodysplastic/Myeloproliferative Disease
Myelodysplastic Myeloproliferative Cancer	Myelodysplastic Myeloproliferative Disease
Myeloproliferative/Myelodysplastic Syndromes

Acute Myeloid Leukemia With Bcr-Abl1

Acute Myeleoid Leukemia With Bcr-Abl1

Extracutaneous Mastocytoma

Mastocytoma	Mast Cell Neoplasm
Benign Mastocytoma

Chronic Neutrophilic Leukemia

Cnl	Leukemia Neutrophilic Chronic

Indolent Systemic Mastocytosis

Ism

Retinal Melanoma

Malignant Retinal Melanoma

Malignant Melanoma Of Retina

Systemic Mastocytosis

Systemic Mast Cell Disease	Systemic Tissue Mast Cell Disease
Mastocytosis, Systemic	Smcd - Systemic Mast Cell Disease
Smcd	Mast Cell Disease, Systemic
Systemic Mast-Cell Disease	Systemic Mastocytoses
Mastocytosis Systemic	Corneal Dystrophy, Subepithelial Mucinous
Smcd - [Systemic Mast Cell Disease]

Bone Marrow Cancer

Malignant Neoplasm Of Bone Marrow	Bone Marrow Neoplasm
Bone Marrow Tumor	Malignant Bone Marrow Tumor
Myeloproliferative Disorders	Bone Marrow Neoplasms
Myeloproliferative Disease	Chronic Myeloproliferative Disorder

Muscular Atrophy

Muscle Wasting	Amyotrophia
Wasting - Muscle	Skeletal Muscle Atrophy

Patau Syndrome

Trisomy 13	Complete Trisomy 13 Syndrome
Trisomy 13 Syndrome	D1 Trisomy
Patau'S Syndrome	Complete Trisomy 13
Chromosome 13, Trisomy 13 Complete	D Trisomy Syndrome
Bartholin-Patau Syndrome	Chromosome 13 Duplication
D1 Trisomy Syndrome	D>1< Trisomy Syndrome
Patau	Chromosome 13 Trisomy
Abnormal Autosomes 13

Mast Cell Neoplasm

Mastocytoma	Mast Cell Proliferative Disease
Mast Cell Tumor	Benign Mastocytoma

Chronic Eosinophilic Leukemia

Pdgfra-Associated Chronic Eosinophilic Leukemia

Essential Thrombocythemia

Essential Thrombocytosis	Familial Thrombocytosis
Hemorrhagic Thrombocythemia	Hereditary Thrombocythemia
Primary Thrombocytosis	Idiopathic Thrombocythemia
Primary Thrombocythemia	Thrombocythemia, Essential
Essential Thrombocythaemia	Et
Familial Thrombocythemia	Thrombocythemia Essential

Hematuria, Benign Familial

Benign Familial Hematuria	BFH
Thin Membrane Nephropathy	Tmn
Thin Basement Membrane Nephropathy	Thin-Basement-Membrane Nephropathy
Hematuria, Familial Benign	Hematuria Benign Familial
Hematuria, Benign, Familial	Thin Basement Membrane Disease

Myeloproliferative Neoplasm

Myeloproliferative Disorder	Chronic Myeloproliferative Disease
Myeloproliferative Neoplasms	Chronic Myeloproliferative Disorder
Cmpd	Cmpd, U
Chronic Myeloproliferative Disorders	Mpd
Mpn	Myeloproliferative Disorders
Myeloproliferative Disease	Campomelic Dysplasia

Deafness, Autosomal Recessive 110

DFNB110	Autosomal Recessive Nonsyndromic Deafness 110
Autosomal Recessive Deafness 110	Deafness, Autosomal Recessive, 110

Juvenile Myelomonocytic Leukemia

Leukemia, Juvenile Myelomonocytic	JMML
Leukemia, Juvenile Myelomonocytic, Somatic	Juvenile Chronic Myelomonocytic Leukemia
Juvenile Chronic Myelogenous Leukemia	Leukemia, Myelomonocytic, Juvenile
Juvenile Myelomonocytic Leukaemia Without Mention Of Remission

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

Blood Platelet Disease

Platelet Disorder	Blood Platelet Disorders
Thrombocytopathy	Platelet Dysfunction
Platelet Disorders	Qualitative Platelet Deficiency

Melanoma, Uveal

Uveal Melanoma	Choroidal Melanoma
Melanoma Of Uvea	Iris Melanoma
Malignant Melanoma Of Choroid	Malignant Melanoma Of Iris

Myelodysplastic Syndrome

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

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

Immune Deficiency Disease

Immunodeficiency	Primary Immunodeficiency
Primary Immunodeficiency Disease	Immunologic Deficiency Syndromes
Hypoimmunity	Immune Deficiency Disorder
Immunodeficiency Syndrome	Immune Disorder
Primary Immune Deficiency Disorder	Immune System Diseases
Human Immunodeficiency Virus Infection	Hiv - [Human Immunodeficiency Virus Infection]
Hiv Positive Nos	Hiv Disease
Acquired Immune Deficiency Syndrome-Related Complex	Aids-Like Syndrome
Aids-Related Complex Nos	Arc - [Aids-Related Complex]
Immunodeficiency Due To Human Immunodeficiency Virus Infection	Unspecified Human Immunodeficiency Virus Disease
Hiv Disease Nos	Human Immunodeficiency Virus Positive Nos
Hiv Nos	Deficiency Of Complement Initial Pathway
Deficiency Of Complement Terminal Pathway	Cfdd - [Complement Factor D Deficiency]
Immunodeficiency With Nk-Cell - [Natural-Killer Cell] Deficiency	Nonfamilial Hypogammaglobulinaemia
Common Variable Immune Deficiency	Nonfamilial Agammaglobulinaemia
Common Variable Agammaglobulinaemia	Agammaglobulinaemia Nos
Agammaglobulinaemia Antibody Deficiency Syndrome	Hypogammaglobulinaemia Antibody Deficiency Syndrome
Acquired Agammaglobulinaemia Nos	Hypogammaglobulinaemia Nos
Hyper Igm

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

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-RS13793	SRSF2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	SRSF2	VGNC	VGNC:55824
Rattus norvegicus	SRSF2	RGD	RGD:1359422
Mus musculus	SRSF2	MGD	MGI:98284
Macaca mulatta	SRSF2	VGNC	VGNC:77819
Bos taurus	SRSF2	VGNC	VGNC:55875