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  2. SRSF2 - serine and arginine rich splicing factor 2 Gene

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

SRSF2 Protein Structure

RRM_1

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

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  • 221 a.a.
Protein Preferred Names Protein Names

serine/arginine-rich splicing factor 2

SR splicing factor 2

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