SRSF2 - serine and arginine rich splicing factor 2 Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 6427

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

RRM_1: RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) (18 - 86)

  • 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
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
SRSF2 Q01130 KAT5 Homo sapiens Q92993 21157427
Intra
SRSF2 Q01130 CIR1 Homo sapiens Q86X95
IF
15652350
Intra
SRSF2 Q01130 CIR1 Homo sapiens Q86X95 15652350
Intra
SRSF2 Q01130 U2AF1 Homo sapiens Q01081 18559666
Intra
SRSF2 Q01130 RANGRF Homo sapiens Q9HD47 33961781
Cross: Cross-species interaction Intra: Intraspecies interaction

SRSF2 Antibodies

Cat. No. 상품명 신청 Reactivity
HY-P82160 SC35 Antibody (YA1905) WB, IHC-P, IP Human, Rat
HY-P82160A SC35 Antibody (YA1905)(PBS only) WB, IHC-P, IP Human, Rat

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

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
Others SRSF2 NCBI