SRSF2 (serine and arginine rich splicing factor 2) - Rat Genome Database

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Gene: SRSF2 (serine and arginine rich splicing factor 2) Homo sapiens
Analyze
Symbol: SRSF2
Name: serine and arginine rich splicing factor 2
RGD ID: 1343626
HGNC Page HGNC:10783
Description: Enables RNA binding activity. Predicted to be involved in mRNA splicing, via spliceosome. Predicted to act upstream of or within regulation of alternative mRNA splicing, via spliceosome. Located in cytosol and nuclear speck. Implicated in acute myeloid leukemia; congestive heart failure; hepatocellular carcinoma; and myelodysplastic syndrome. Biomarker of carcinoma (multiple) and lung cancer (multiple).
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: PR264; SC-35; SC35; serine/arginine-rich splicing factor 2; SFRS2; SFRS2A; splicing component, 35 kDa; splicing factor SC35; splicing factor, arginine/serine-rich 2; SR splicing factor 2; SRp30b
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: SRSF2P1   SRSF8BP  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381776,734,115 - 76,737,411 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1776,734,115 - 76,737,333 (-)EnsemblGRCh38hg38GRCh38
GRCh371774,730,197 - 74,733,413 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361772,241,792 - 72,245,007 (-)NCBINCBI36Build 36hg18NCBI36
Build 341772,241,793 - 72,245,007NCBI
Celera1771,322,570 - 71,325,785 (-)NCBICelera
Cytogenetic Map17q25.1NCBI
HuRef1770,157,912 - 70,161,208 (-)NCBIHuRef
CHM1_11774,795,009 - 74,798,305 (-)NCBICHM1_1
T2T-CHM13v2.01777,631,102 - 77,634,398 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (EXP)
(R,R,R)-alpha-tocopherol  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
14-Deoxy-11,12-didehydroandrographolide  (EXP)
17beta-estradiol  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3-dimethoxynaphthalene-1,4-dione  (EXP)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
3',5'-cyclic UMP  (EXP)
6-propyl-2-thiouracil  (ISO)
acrolein  (EXP)
acrylamide  (ISO)
aflatoxin B1  (EXP,ISO)
alpha-pinene  (EXP)
amitrole  (ISO)
aristolochic acid A  (EXP)
Aroclor 1254  (ISO)
artesunate  (EXP)
azoxystrobin  (EXP)
benzene  (EXP)
benzo[a]pyrene  (EXP,ISO)
beta-lapachone  (EXP)
bexarotene  (EXP)
bis(2-chloroethyl) sulfide  (EXP)
bisphenol A  (EXP,ISO)
buspirone  (ISO)
butan-2-one  (EXP)
butyric acid  (EXP)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
caffeine  (EXP)
carbamazepine  (EXP)
carbon nanotube  (ISO)
chloropicrin  (EXP)
chromium atom  (EXP)
chromium(6+)  (ISO)
cisplatin  (EXP)
clofibric acid  (ISO)
clozapine  (EXP)
cobalt dichloride  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
coumestrol  (EXP)
Cuprizon  (EXP)
curcumin  (EXP)
cyclosporin A  (EXP)
DDE  (EXP)
deoxynivalenol  (ISO)
Dibutyl phosphate  (EXP)
dibutyl phthalate  (ISO)
diuron  (ISO)
ethyl methanesulfonate  (EXP)
flutamide  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
FR900359  (EXP)
gamma-hexachlorocyclohexane  (ISO)
gentamycin  (ISO)
glafenine  (ISO)
haloperidol  (EXP)
Heptachlor epoxide  (ISO)
isoprenaline  (ISO)
ivermectin  (EXP)
kojic acid  (EXP)
lead diacetate  (ISO)
leflunomide  (EXP,ISO)
mercury atom  (EXP)
mercury(0)  (EXP)
methyl methanesulfonate  (EXP)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (EXP)
N-methyl-4-phenylpyridinium  (EXP)
nickel atom  (EXP)
nickel dichloride  (EXP)
niclosamide  (EXP)
oxaliplatin  (ISO)
ozone  (EXP,ISO)
paracetamol  (ISO)
paraquat  (EXP)
parathion  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phenobarbital  (ISO)
PhIP  (ISO)
piroxicam  (EXP)
potassium dichromate  (EXP)
quercetin  (EXP)
rotenone  (EXP)
silver atom  (EXP)
silver(0)  (EXP)
sodium arsenite  (EXP)
sodium fluoride  (ISO)
Soman  (ISO)
tetrachloromethane  (ISO)
thapsigargin  (EXP)
thioacetamide  (ISO)
titanium dioxide  (ISO)
topotecan  (ISO)
Tributyltin oxide  (ISO)
trichloroethene  (ISO)
trimellitic anhydride  (ISO)
triphenyl phosphate  (EXP)
triptonide  (ISO)
trovafloxacin  (ISO)
tunicamycin  (EXP)
urethane  (EXP)
valproic acid  (EXP,ISO)
Yessotoxin  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytosol  (IDA)
interchromatin granule  (IEA,ISO)
nuclear speck  (IBA,IDA,IEA,ISO,TAS)
nucleoplasm  (IDA,IEA,TAS)
nucleus  (IDA,IEA)
perichromatin fibrils  (IEA,ISO)
PML body  (IDA)
spliceosomal complex  (IEA)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abdominal cramps  (IAGP)
Abdominal pain  (IAGP)
Abnormal blistering of the skin  (IAGP)
Abnormal mast cell morphology  (IAGP)
Abnormal skin morphology  (IAGP)
Abnormality of the respiratory system  (IAGP)
Acute myeloid leukemia  (IAGP)
Amyloidosis  (IAGP)
Anaphylactic shock  (IAGP)
Anemia  (IAGP)
Anorexia  (IAGP)
Arthralgia  (IAGP)
Ascites  (IAGP)
Bone marrow hypercellularity  (IAGP)
Bone pain  (IAGP)
Chronic lymphatic leukemia  (IAGP)
Chronic myelomonocytic leukemia  (IAGP)
Constitutional symptom  (IAGP)
Decreased liver function  (IAGP)
Diarrhea  (IAGP)
Elevated circulating alkaline phosphatase concentration  (IAGP)
Elevated total serum tryptase  (IAGP)
Eosinophilia  (IAGP)
Fatigue  (IAGP)
Fever  (IAGP)
Flushing  (IAGP)
Gastrointestinal hemorrhage  (IAGP)
Granulocytic hyperplasia  (IAGP)
Headache  (IAGP)
Hematological neoplasm  (IAGP)
Hepatomegaly  (IAGP)
Hepatosplenomegaly  (IAGP)
Hypersplenism  (IAGP)
Hypotension  (IAGP)
Increased basophil count  (IAGP)
Increased proportion of CD25+ mast cells  (IAGP)
Increased susceptibility to fractures  (IAGP)
Leukemia  (IAGP)
Leukocytosis  (IAGP)
Lymphadenopathy  (IAGP)
Lymphoma  (IAGP)
Maculopapular exanthema  (IAGP)
Malabsorption  (IAGP)
Multiple myeloma  (IAGP)
Myalgia  (IAGP)
Myelodysplasia  (IAGP)
Myeloid leukemia  (IAGP)
Myeloproliferative disorder  (IAGP)
Nausea  (IAGP)
Neutropenia  (IAGP)
Neutrophilia  (IAGP)
Normochromic anemia  (IAGP)
Normocytic anemia  (IAGP)
Osteolysis  (IAGP)
Osteoporosis  (IAGP)
Pallor  (IAGP)
Pancytopenia  (IAGP)
Pathologic fracture  (IAGP)
Peptic ulcer  (IAGP)
Portal hypertension  (IAGP)
Pruritus  (IAGP)
Splenomegaly  (IAGP)
Syncope  (IAGP)
Tachycardia  (IAGP)
Thrombocytopenia  (IAGP)
Urticaria  (IAGP)
Weight loss  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Proteomic analysis of in vivo-assembled pre-mRNA splicing complexes expands the catalog of participating factors. Chen YI, etal., Nucleic Acids Res. 2007;35(12):3928-44. Epub 2007 May 30.
2. A new function of the splicing factor SRSF2 in the control of E2F1-mediated cell cycle progression in neuroendocrine lung tumors. Edmond V, etal., Cell Cycle. 2013 Apr 15;12(8):1267-78. doi: 10.4161/cc.24363. Epub 2013 Mar 21.
3. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
4. Abnormal expression of the pre-mRNA splicing regulators SRSF1, SRSF2, SRPK1 and SRPK2 in non small cell lung carcinoma. Gout S, etal., PLoS One. 2012;7(10):e46539. doi: 10.1371/journal.pone.0046539. Epub 2012 Oct 10.
5. Mutational analysis of splicing machinery genes SF3B1, U2AF1 and SRSF2 in myelodysplasia and other common tumors. Je EM, etal., Int J Cancer. 2013 Jul;133(1):260-5. doi: 10.1002/ijc.28011. Epub 2013 Feb 5.
6. Full spectrum of clonal haematopoiesis-driver mutations in chronic heart failure and their associations with mortality. Kiefer KC, etal., ESC Heart Fail. 2021 Jun;8(3):1873-1884. doi: 10.1002/ehf2.13297. Epub 2021 Mar 28.
7. SRSF2 Regulates Alternative Splicing to Drive Hepatocellular Carcinoma Development. Luo C, etal., Cancer Res. 2017 Mar 1;77(5):1168-1178. doi: 10.1158/0008-5472.CAN-16-1919. Epub 2017 Jan 12.
8. Disturbed expression of splicing factors in renal cancer affects alternative splicing of apoptosis regulators, oncogenes, and tumor suppressors. Piekielko-Witkowska A, etal., PLoS One. 2010 Oct 27;5(10):e13690. doi: 10.1371/journal.pone.0013690.
9. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
10. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
11. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
12. Exon 11 skipping of E-cadherin RNA downregulates its expression in head and neck cancer cells. Sharma S, etal., Mol Cancer Ther. 2011 Sep;10(9):1751-9. doi: 10.1158/1535-7163.MCT-11-0248. Epub 2011 Jul 15.
13. Serine/arginine rich splicing factor 2 expression and clinic pathological features indicating a prognostic factor in human hepatocellular carcinoma patients. Wang P, etal., Cancer Biomark. 2018 Feb 14;21(3):681-687. doi: 10.3233/CBM-170770.
14. Loss of SRSF2 triggers hepatic progenitor cell activation and tumor development in mice. Zhang C, etal., Commun Biol. 2020 May 5;3(1):210. doi: 10.1038/s42003-020-0893-5.
15. Genetic analysis of patients with leukemic transformation of myeloproliferative neoplasms shows recurrent SRSF2 mutations that are associated with adverse outcome. Zhang SJ, etal., Blood. 2012 May 10;119(19):4480-5. doi: 10.1182/blood-2011-11-390252. Epub 2012 Mar 19.
Additional References at PubMed
PMID:1373910   PMID:1465383   PMID:1557353   PMID:1577277   PMID:3031469   PMID:7543047   PMID:7546906   PMID:8125298   PMID:8139654   PMID:8261509   PMID:8302870   PMID:8361546  
PMID:8530103   PMID:8816452   PMID:9237760   PMID:9358160   PMID:9447963   PMID:9472028   PMID:9473574   PMID:9513048   PMID:9541613   PMID:9601515   PMID:9774382   PMID:10082253  
PMID:10757789   PMID:10893273   PMID:10908574   PMID:10983978   PMID:11090190   PMID:11101529   PMID:11101696   PMID:11239462   PMID:11313942   PMID:11448987   PMID:11683387   PMID:11683997  
PMID:11779509   PMID:11790298   PMID:11967326   PMID:11980906   PMID:11991645   PMID:12226669   PMID:12239324   PMID:12477932   PMID:12565890   PMID:12665590   PMID:12799190   PMID:12837281  
PMID:14559993   PMID:14702039   PMID:14703516   PMID:15123677   PMID:15184380   PMID:15208309   PMID:15302935   PMID:15489334   PMID:15511225   PMID:15652350   PMID:15798186   PMID:15798212  
PMID:15907217   PMID:15988025   PMID:15998806   PMID:16052631   PMID:16159877   PMID:16344560   PMID:16713569   PMID:16761280   PMID:16964243   PMID:16990281   PMID:17081983   PMID:17332742  
PMID:17353911   PMID:17353931   PMID:17361185   PMID:17494991   PMID:18025108   PMID:18559666   PMID:18586677   PMID:18806759   PMID:18976975   PMID:19005234   PMID:19177009   PMID:19592491  
PMID:19608861   PMID:19648116   PMID:19734146   PMID:19843576   PMID:19857271   PMID:20085707   PMID:20360068   PMID:20467437   PMID:20516191   PMID:20547768   PMID:20580447   PMID:20615469  
PMID:20703835   PMID:21081503   PMID:21145461   PMID:21157427   PMID:21182205   PMID:21296756   PMID:21333649   PMID:21504830   PMID:21653549   PMID:21873635   PMID:21907836   PMID:21984414  
PMID:22094256   PMID:22113938   PMID:22140111   PMID:22238327   PMID:22323480   PMID:22365833   PMID:22389253   PMID:22586326   PMID:22658674   PMID:22681889   PMID:22863587   PMID:22919025  
PMID:22932795   PMID:22939629   PMID:22968464   PMID:22990118   PMID:23065512   PMID:23084401   PMID:23335386   PMID:23376485   PMID:23562910   PMID:23602568   PMID:23660863   PMID:23776548  
PMID:24037441   PMID:24115220   PMID:24173428   PMID:24244333   PMID:24389310   PMID:24406341   PMID:24457600   PMID:24711643   PMID:24792892   PMID:24796269   PMID:24813856   PMID:24999758  
PMID:25147182   PMID:25220236   PMID:25231745   PMID:25305095   PMID:25416801   PMID:25416956   PMID:25437307   PMID:25445211   PMID:25496916   PMID:25506695   PMID:25533824   PMID:25541999  
PMID:25550361   PMID:25553291   PMID:25717103   PMID:25765854   PMID:25798074   PMID:25889056   PMID:25921289   PMID:25964599   PMID:26257065   PMID:26261309   PMID:26344197   PMID:26406946  
PMID:26496610   PMID:26534959   PMID:26562302   PMID:26638075   PMID:26641092   PMID:26673895   PMID:26797131   PMID:26820131   PMID:27025967   PMID:27248496   PMID:27416984   PMID:27552991  
PMID:27576135   PMID:27609421   PMID:27639445   PMID:27684187   PMID:27784784   PMID:28065597   PMID:28209919   PMID:28302793   PMID:28377597   PMID:28424161   PMID:28515276   PMID:28592444  
PMID:28655759   PMID:28712387   PMID:28810145   PMID:28953917   PMID:29053956   PMID:29117863   PMID:29133588   PMID:29171022   PMID:29226865   PMID:29298432   PMID:29331391   PMID:29331416  
PMID:29433383   PMID:29507755   PMID:29509190   PMID:29757120   PMID:29797327   PMID:29802200   PMID:29845934   PMID:29858584   PMID:30194306   PMID:30209976   PMID:30320934   PMID:30344098  
PMID:30375398   PMID:30463901   PMID:30472188   PMID:30804502   PMID:30846499   PMID:30884312   PMID:30940648   PMID:30948266   PMID:31030497   PMID:31046837   PMID:31048545   PMID:31124956  
PMID:31239290   PMID:31253590   PMID:31295920   PMID:31343991   PMID:31365120   PMID:31462738   PMID:31527615   PMID:31586073   PMID:31751430   PMID:31822558   PMID:31838573   PMID:31871319  
PMID:31980649   PMID:32001512   PMID:32129710   PMID:32203420   PMID:32332923   PMID:32358566   PMID:32640226   PMID:32707033   PMID:32807901   PMID:32913111   PMID:33050987   PMID:33226137  
PMID:33301849   PMID:33319461   PMID:33349666   PMID:33411704   PMID:33502020   PMID:33644029   PMID:33658012   PMID:33742100   PMID:33838681   PMID:33961781   PMID:34079125   PMID:34133714  
PMID:34173324   PMID:34289154   PMID:34349018   PMID:34373451   PMID:34464972   PMID:34650049   PMID:34673031   PMID:35013218   PMID:35013556   PMID:35182466   PMID:35271311   PMID:35337019  
PMID:35563538   PMID:35605301   PMID:35690645   PMID:35831314   PMID:35850772   PMID:35906200   PMID:35944360   PMID:35987950   PMID:36114006   PMID:36215168   PMID:36244648   PMID:36339263  
PMID:36373674   PMID:36424410   PMID:36517590   PMID:36572190   PMID:36597993   PMID:36688959   PMID:37071682   PMID:37335045   PMID:37344641   PMID:37354804   PMID:37616343   PMID:37794589  
PMID:37867192   PMID:38065062   PMID:38113892   PMID:38678322   PMID:38697112   PMID:38713535   PMID:38777146   PMID:38795036   PMID:39238192  


Genomics

Comparative Map Data
SRSF2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381776,734,115 - 76,737,411 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1776,734,115 - 76,737,333 (-)EnsemblGRCh38hg38GRCh38
GRCh371774,730,197 - 74,733,413 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361772,241,792 - 72,245,007 (-)NCBINCBI36Build 36hg18NCBI36
Build 341772,241,793 - 72,245,007NCBI
Celera1771,322,570 - 71,325,785 (-)NCBICelera
Cytogenetic Map17q25.1NCBI
HuRef1770,157,912 - 70,161,208 (-)NCBIHuRef
CHM1_11774,795,009 - 74,798,305 (-)NCBICHM1_1
T2T-CHM13v2.01777,631,102 - 77,634,398 (-)NCBIT2T-CHM13v2.0
Srsf2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3911116,740,723 - 116,744,511 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl11116,740,727 - 116,743,920 (-)EnsemblGRCm39 Ensembl
GRCm3811116,849,897 - 116,853,675 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl11116,849,901 - 116,853,094 (-)EnsemblGRCm38mm10GRCm38
MGSCv3711116,711,211 - 116,714,408 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3611116,665,997 - 116,669,172 (-)NCBIMGSCv36mm8
Celera11128,590,379 - 128,593,569 (-)NCBICelera
Cytogenetic Map11E2NCBI
cM Map1181.49NCBI
Srsf2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr810102,550,962 - 102,554,200 (-)NCBIGRCr8
mRatBN7.210102,052,158 - 102,055,365 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl10102,052,314 - 102,055,338 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx10107,156,134 - 107,159,309 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.010106,619,223 - 106,622,399 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.010101,972,989 - 101,976,169 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.010105,792,779 - 105,795,986 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl10105,792,779 - 105,795,958 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.010105,451,332 - 105,454,538 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.410106,954,365 - 106,956,807 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.110106,968,870 - 106,971,311 (-)NCBI
Celera10100,620,618 - 100,623,797 (-)NCBICelera
Cytogenetic Map10q32.2NCBI
Srsf2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555065,569,302 - 5,570,120 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555065,569,280 - 5,572,164 (+)NCBIChiLan1.0ChiLan1.0
SRSF2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21992,782,655 - 92,786,542 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11797,608,369 - 97,612,256 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01770,809,931 - 70,813,191 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11776,375,957 - 76,379,258 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1776,375,957 - 76,379,759 (-)Ensemblpanpan1.1panPan2
SRSF2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.194,028,414 - 4,032,371 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl94,028,482 - 4,030,793 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha94,709,901 - 4,713,865 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.094,704,238 - 4,708,205 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl94,704,294 - 4,708,202 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.194,730,113 - 4,734,075 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.094,849,750 - 4,853,714 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.094,930,800 - 4,934,764 (+)NCBIUU_Cfam_GSD_1.0
Srsf2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244056024,633,549 - 4,636,547 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365941,777,376 - 1,778,164 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365941,775,412 - 1,778,389 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SRSF2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl124,800,624 - 4,801,675 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1124,800,578 - 4,803,767 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2124,652,818 - 4,653,543 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SRSF2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11644,945,193 - 44,948,496 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1644,945,200 - 44,946,438 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607715,682,841 - 15,686,671 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Srsf2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248016,575,325 - 6,578,468 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248016,575,322 - 6,578,429 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SRSF2
11 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3 copy number gain See cases [RCV000052486] Chr17:69209079..83086677 [GRCh38]
Chr17:67205220..81044553 [GRCh37]
Chr17:64716815..78637842 [NCBI36]
Chr17:17q24.3-25.3
pathogenic
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|See cases [RCV000052483] Chr17:36449220..83086677 [GRCh38]
Chr17:58617905..81044553 [GRCh37]
Chr17:55972687..78637842 [NCBI36]
Chr17:17q23.2-25.3
pathogenic
NM_001195427.1(SRSF2):c.595G>A (p.Glu199Lys) single nucleotide variant Malignant melanoma [RCV000071684] Chr17:76736232 [GRCh38]
Chr17:74732314 [GRCh37]
Chr17:72243909 [NCBI36]
Chr17:17q25.1
not provided
NM_001195427.1(SRSF2):c.579C>T (p.Pro193=) single nucleotide variant Malignant melanoma [RCV000071685] Chr17:76736248 [GRCh38]
Chr17:74732330 [GRCh37]
Chr17:72243925 [NCBI36]
Chr17:17q25.1
not provided
NM_001195427.2(SRSF2):c.284C>G (p.Pro95Arg) single nucleotide variant Acute megakaryoblastic leukemia in down syndrome [RCV001293765] Chr17:76736877 [GRCh38]
Chr17:74732959 [GRCh37]
Chr17:17q25.1
likely pathogenic
GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3 copy number gain See cases [RCV000143342] Chr17:69916435..83102552 [GRCh38]
Chr17:67912576..81048189 [GRCh37]
Chr17:65424171..78653717 [NCBI36]
Chr17:17q24.3-25.3
pathogenic
GRCh37/hg19 17q25.1-25.3(chr17:73951701-81041938)x3 copy number gain See cases [RCV000447539] Chr17:73951701..81041938 [GRCh37]
Chr17:17q25.1-25.3
pathogenic
GRCh37/hg19 17q24.2-25.3(chr17:64241326-81041938)x3 copy number gain See cases [RCV000447577] Chr17:64241326..81041938 [GRCh37]
Chr17:17q24.2-25.3
pathogenic
GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3 copy number gain See cases [RCV000447823] Chr17:42580684..81085615 [GRCh37]
Chr17:17q21.31-25.3
pathogenic
NM_001195427.2(SRSF2):c.550_555del (p.178RS[6]) deletion not provided [RCV000480692] Chr17:76736272..76736277 [GRCh38]
Chr17:74732354..74732359 [GRCh37]
Chr17:17q25.1
uncertain significance
GRCh37/hg19 17q25.1-25.2(chr17:73992637-75099218)x4 copy number gain See cases [RCV000510197] Chr17:73992637..75099218 [GRCh37]
Chr17:17q25.1-25.2
uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17q25.1-25.3(chr17:73951701-81041938)x3 copy number gain See cases [RCV000510919] Chr17:73951701..81041938 [GRCh37]
Chr17:17q25.1-25.3
pathogenic
NM_001195427.2(SRSF2):c.556C>G (p.Arg186Gly) single nucleotide variant not specified [RCV004309067] Chr17:76736271 [GRCh38]
Chr17:74732353 [GRCh37]
Chr17:17q25.1
uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3 copy number gain See cases [RCV000512573] Chr17:67002415..81041938 [GRCh37]
Chr17:17q24.2-25.3
pathogenic
GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3 copy number gain not provided [RCV000683952] Chr17:63689671..81041938 [GRCh37]
Chr17:17q24.1-25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17q24.1-25.2(chr17:64159738-74891024)x3 copy number gain not provided [RCV000762750] Chr17:64159738..74891024 [GRCh37]
Chr17:17q24.1-25.2
likely pathogenic
GRCh37/hg19 17q25.1-25.3(chr17:73261871-78608763)x3 copy number gain not provided [RCV001006919] Chr17:73261871..78608763 [GRCh37]
Chr17:17q25.1-25.3
pathogenic
GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3 copy number gain not provided [RCV000849900] Chr17:62778720..81041938 [GRCh37]
Chr17:17q24.1-25.3
pathogenic
NM_001195427.2(SRSF2):c.284C>T (p.Pro95Leu) single nucleotide variant Acute myeloid leukemia [RCV003234604]|Atypical chronic myeloid leukemia, BCR-ABL1 negative [RCV003232903] Chr17:76736877 [GRCh38]
Chr17:74732959 [GRCh37]
Chr17:17q25.1
pathogenic
GRCh37/hg19 17q25.1-25.3(chr17:74509193-75602123)x1 copy number loss not provided [RCV001006920] Chr17:74509193..75602123 [GRCh37]
Chr17:17q25.1-25.3
uncertain significance
NM_001195427.2(SRSF2):c.92G>A (p.Arg31Lys) single nucleotide variant not specified [RCV004679506] Chr17:76737069 [GRCh38]
Chr17:74733151 [GRCh37]
Chr17:17q25.1
uncertain significance
GRCh37/hg19 17q25.1-25.3(chr17:73481509-81043199)x3 copy number gain not provided [RCV002276051] Chr17:73481509..81043199 [GRCh37]
Chr17:17q25.1-25.3
pathogenic
NM_001195427.2(SRSF2):c.530C>G (p.Ser177Cys) single nucleotide variant not specified [RCV004156187] Chr17:76736297 [GRCh38]
Chr17:74732379 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_001195427.2(SRSF2):c.317C>T (p.Pro106Leu) single nucleotide variant not specified [RCV004215047] Chr17:76736844 [GRCh38]
Chr17:74732926 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_001195427.2(SRSF2):c.557G>T (p.Arg186Leu) single nucleotide variant not specified [RCV004260245] Chr17:76736270 [GRCh38]
Chr17:74732352 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_001195427.2(SRSF2):c.183C>T (p.Arg61=) single nucleotide variant not provided [RCV003413347] Chr17:76736978 [GRCh38]
Chr17:74733060 [GRCh37]
Chr17:17q25.1
likely benign
NM_001195427.2(SRSF2):c.504G>A (p.Arg168=) single nucleotide variant not provided [RCV003428498] Chr17:76736323 [GRCh38]
Chr17:74732405 [GRCh37]
Chr17:17q25.1
likely benign
NM_001195427.2(SRSF2):c.144C>T (p.Asp48=) single nucleotide variant SRSF2-related disorder [RCV003979493] Chr17:76737017 [GRCh38]
Chr17:74733099 [GRCh37]
Chr17:17q25.1
benign
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR183hsa-miR-183-5pMirtarbaseexternal_infoImmunoblot//Microarray//qRT-PCRFunctional MTI (Weak)19711202
MIR183hsa-miR-183-5pMirtarbaseexternal_infoSequencingFunctional MTI (Weak)20371350
MIR193Ahsa-miR-193a-3pOncomiRDBexternal_infoNANA22117060

Predicted Target Of
Summary Value
Count of predictions:2395
Count of miRNA genes:768
Interacting mature miRNAs:882
Transcripts:ENST00000358156, ENST00000359995, ENST00000392485, ENST00000452355, ENST00000508921, ENST00000582449, ENST00000583836, ENST00000585202, ENST00000586778, ENST00000589919, ENST00000592676
Prediction methods:Microtar, Miranda, Pita, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407080500GWAS729476_Heye measurement QTL GWAS729476 (human)2e-10eye measurementeye measurement (CMO:0003079)177673732176737322Human

Markers in Region
A004Z40  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371194,802,093 - 94,802,229UniSTSGRCh37
GRCh371129,287,944 - 29,288,080UniSTSGRCh37
Build 361129,244,520 - 29,244,656RGDNCBI36
Celera1129,434,154 - 29,434,290RGD
Celera1192,089,911 - 92,090,047UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map11q22UniSTS
HuRef1128,981,142 - 28,981,278UniSTS
HuRef1190,866,973 - 90,867,109UniSTS
HuRef1770,157,947 - 70,158,083UniSTS
GeneMap99-GB4 RH Map11317.37UniSTS
Whitehead-RH Map11416.2UniSTS
SHGC-12848  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371774,730,847 - 74,731,194UniSTSGRCh37
Build 361772,242,442 - 72,242,789RGDNCBI36
Celera1771,323,220 - 71,323,567RGD
Cytogenetic Map17q25.1UniSTS
HuRef1770,158,562 - 70,158,909UniSTS
Stanford-G3 RH Map173328.0UniSTS
NCBI RH Map17795.0UniSTS
GeneMap99-G3 RH Map173829.0UniSTS
RH11488  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371774,729,733 - 74,729,864UniSTSGRCh37
Build 361772,241,328 - 72,241,459RGDNCBI36
Celera1771,322,106 - 71,322,237RGD
Cytogenetic Map17q25.1UniSTS
HuRef1770,157,448 - 70,157,579UniSTS
GeneMap99-GB4 RH Map17491.9UniSTS
NCBI RH Map17795.0UniSTS
D4S2570E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371774,733,085 - 74,733,191UniSTSGRCh37
Build 361772,244,680 - 72,244,786RGDNCBI36
Celera1771,325,458 - 71,325,564RGD
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map17q25UniSTS
HuRef1770,160,800 - 70,160,906UniSTS
Stanford-G3 RH Map49128.0UniSTS
NCBI RH Map41691.9UniSTS
GeneMap99-G3 RH Map49053.0UniSTS
SHGC-132110  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map17q25.1UniSTS
TNG Radiation Hybrid Map1734295.0UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_032905 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001195427 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003016 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_036608 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017024942 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008484875 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008484876 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008484877 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_429913 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_429914 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC005837 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092489 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK093626 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK097069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK098209 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK123712 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK124792 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK126432 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223252 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297813 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000339 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001303 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC063570 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC066958 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC070086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT007250 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471099 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CQ859722 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA513281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC361254 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EB388696 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L03693 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M90104 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF436150 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF436151 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  PP412808 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X62447 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X75755 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000358156   ⟹   ENSP00000350877
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1776,734,115 - 76,737,331 (-)Ensembl
Ensembl Acc Id: ENST00000359995   ⟹   ENSP00000353089
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1776,734,115 - 76,737,331 (-)Ensembl
Ensembl Acc Id: ENST00000392485   ⟹   ENSP00000376276
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1776,734,115 - 76,737,333 (-)Ensembl
Ensembl Acc Id: ENST00000452355   ⟹   ENSP00000391278
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1776,734,252 - 76,737,331 (-)Ensembl
Ensembl Acc Id: ENST00000508921   ⟹   ENSP00000441780
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1776,734,577 - 76,737,331 (-)Ensembl
Ensembl Acc Id: ENST00000582449
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1776,734,147 - 76,736,555 (-)Ensembl
Ensembl Acc Id: ENST00000583836   ⟹   ENSP00000463317
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1776,736,380 - 76,737,331 (-)Ensembl
Ensembl Acc Id: ENST00000585202   ⟹   ENSP00000462425
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1776,734,123 - 76,737,308 (-)Ensembl
Ensembl Acc Id: ENST00000586778
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1776,734,163 - 76,735,661 (-)Ensembl
Ensembl Acc Id: ENST00000589919
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1776,734,303 - 76,736,008 (-)Ensembl
Ensembl Acc Id: ENST00000592676
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1776,735,137 - 76,736,154 (-)Ensembl
RefSeq Acc Id: NM_001195427   ⟹   NP_001182356
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381776,734,115 - 76,737,331 (-)NCBI
GRCh371774,730,197 - 74,733,493 (-)ENTREZGENE
HuRef1770,157,912 - 70,161,208 (-)ENTREZGENE
CHM1_11774,795,009 - 74,798,305 (-)NCBI
T2T-CHM13v2.01777,631,102 - 77,634,318 (-)NCBI
Sequence:
RefSeq Acc Id: NM_003016   ⟹   NP_003007
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381776,734,115 - 76,737,331 (-)NCBI
GRCh371774,730,197 - 74,733,493 (-)ENTREZGENE
Build 361772,241,792 - 72,245,007 (-)NCBI Archive
HuRef1770,157,912 - 70,161,208 (-)ENTREZGENE
CHM1_11774,795,009 - 74,798,305 (-)NCBI
T2T-CHM13v2.01777,631,102 - 77,634,318 (-)NCBI
Sequence:
RefSeq Acc Id: NR_036608
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381776,734,115 - 76,737,331 (-)NCBI
GRCh371774,730,197 - 74,733,493 (-)ENTREZGENE
HuRef1770,157,912 - 70,161,208 (-)ENTREZGENE
CHM1_11774,795,009 - 74,798,305 (-)NCBI
T2T-CHM13v2.01777,631,102 - 77,634,318 (-)NCBI
Sequence:
RefSeq Acc Id: XR_002958055
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381776,734,115 - 76,737,411 (-)NCBI
Sequence:
RefSeq Acc Id: XR_008484875
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01777,631,115 - 77,634,398 (-)NCBI
RefSeq Acc Id: XR_008484876
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01777,631,115 - 77,634,398 (-)NCBI
RefSeq Acc Id: XR_008484877
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01777,631,115 - 77,634,398 (-)NCBI
RefSeq Acc Id: XR_429913
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381776,734,115 - 76,737,411 (-)NCBI
Sequence:
RefSeq Acc Id: XR_429914
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381776,734,115 - 76,737,411 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001182356 (Get FASTA)   NCBI Sequence Viewer  
  NP_003007 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA60162 (Get FASTA)   NCBI Sequence Viewer  
  AAA60306 (Get FASTA)   NCBI Sequence Viewer  
  AAH00339 (Get FASTA)   NCBI Sequence Viewer  
  AAH01303 (Get FASTA)   NCBI Sequence Viewer  
  AAH66958 (Get FASTA)   NCBI Sequence Viewer  
  AAH70086 (Get FASTA)   NCBI Sequence Viewer  
  AAP35914 (Get FASTA)   NCBI Sequence Viewer  
  AUR53252 (Get FASTA)   NCBI Sequence Viewer  
  BAC03903 (Get FASTA)   NCBI Sequence Viewer  
  BAC04206 (Get FASTA)   NCBI Sequence Viewer  
  BAD96972 (Get FASTA)   NCBI Sequence Viewer  
  BAG53419 (Get FASTA)   NCBI Sequence Viewer  
  BAG53593 (Get FASTA)   NCBI Sequence Viewer  
  BAG53944 (Get FASTA)   NCBI Sequence Viewer  
  BAG54097 (Get FASTA)   NCBI Sequence Viewer  
  BAG54327 (Get FASTA)   NCBI Sequence Viewer  
  BAG60151 (Get FASTA)   NCBI Sequence Viewer  
  CAA44307 (Get FASTA)   NCBI Sequence Viewer  
  CAA53383 (Get FASTA)   NCBI Sequence Viewer  
  CAH25911 (Get FASTA)   NCBI Sequence Viewer  
  EAW89439 (Get FASTA)   NCBI Sequence Viewer  
  EAW89440 (Get FASTA)   NCBI Sequence Viewer  
  EAW89441 (Get FASTA)   NCBI Sequence Viewer  
  EAW89442 (Get FASTA)   NCBI Sequence Viewer  
  EAW89443 (Get FASTA)   NCBI Sequence Viewer  
  EAW89444 (Get FASTA)   NCBI Sequence Viewer  
  EAW89445 (Get FASTA)   NCBI Sequence Viewer  
  EAW89446 (Get FASTA)   NCBI Sequence Viewer  
  EAW89447 (Get FASTA)   NCBI Sequence Viewer  
  EAW89448 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000350877.7
  ENSP00000353089
  ENSP00000353089.5
  ENSP00000376276
  ENSP00000376276.2
  ENSP00000391278.3
  ENSP00000441780.2
  ENSP00000462425.1
  ENSP00000463317.1
GenBank Protein Q01130 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001182356   ⟸   NM_001195427
- UniProtKB: B4DN89 (UniProtKB/Swiss-Prot),   B3KWD5 (UniProtKB/Swiss-Prot),   H0YG49 (UniProtKB/Swiss-Prot),   Q01130 (UniProtKB/Swiss-Prot),   Q53FN0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_003007   ⟸   NM_003016
- UniProtKB: B4DN89 (UniProtKB/Swiss-Prot),   B3KWD5 (UniProtKB/Swiss-Prot),   H0YG49 (UniProtKB/Swiss-Prot),   Q01130 (UniProtKB/Swiss-Prot),   Q53FN0 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000353089   ⟸   ENST00000359995
Ensembl Acc Id: ENSP00000463317   ⟸   ENST00000583836
Ensembl Acc Id: ENSP00000391278   ⟸   ENST00000452355
Ensembl Acc Id: ENSP00000462425   ⟸   ENST00000585202
Ensembl Acc Id: ENSP00000441780   ⟸   ENST00000508921
Ensembl Acc Id: ENSP00000376276   ⟸   ENST00000392485
Ensembl Acc Id: ENSP00000350877   ⟸   ENST00000358156
Protein Domains
RRM

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q01130-F1-model_v2 AlphaFold Q01130 1-221 view protein structure

Promoters
RGD ID:6794039
Promoter ID:HG_KWN:27193
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000358156,   ENST00000359995,   NM_003016,   UC002JSW.1,   UC002JSX.1,   UC002JSY.2
Position:
Human AssemblyChrPosition (strand)Source
Build 361772,244,506 - 72,245,007 (-)MPROMDB
RGD ID:6853238
Promoter ID:EP74440
Type:initiation region
Name:HS_SFRS2
Description:Splicing factor, arginine/serine-rich 2.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 361772,245,008 - 72,245,068EPD
RGD ID:7236457
Promoter ID:EPDNEW_H23974
Type:initiation region
Name:SRSF2_1
Description:serine and arginine rich splicing factor 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381776,737,331 - 76,737,391EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:10783 AgrOrtholog
COSMIC SRSF2 COSMIC
Ensembl Genes ENSG00000161547 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000358156.7 UniProtKB/TrEMBL
  ENST00000359995 ENTREZGENE
  ENST00000359995.10 UniProtKB/Swiss-Prot
  ENST00000392485 ENTREZGENE
  ENST00000392485.2 UniProtKB/Swiss-Prot
  ENST00000452355.7 UniProtKB/Swiss-Prot
  ENST00000508921.7 UniProtKB/Swiss-Prot
  ENST00000583836.1 UniProtKB/TrEMBL
  ENST00000585202.5 UniProtKB/Swiss-Prot
Gene3D-CATH 3.30.70.330 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000161547 GTEx
HGNC ID HGNC:10783 ENTREZGENE
Human Proteome Map SRSF2 Human Proteome Map
InterPro Nucleotide-bd_a/b_plait_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RBD_domain_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RBM UniProtKB/TrEMBL
  RNA-bind/splicing_reg UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RRM_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RRM_dom_euk UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:6427 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 6427 ENTREZGENE
OMIM 600813 OMIM
PANTHER GLYCINE-RICH RNA-BINDING PROTEIN RZ1A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SC35-LIKE SPLICING FACTOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SERINE_ARGININE-RICH SPLICING FACTOR 2 UniProtKB/TrEMBL
  TRANSFORMER-2 SEX-DETERMINING PROTEIN-RELATED UniProtKB/TrEMBL
Pfam RRM_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA35699 PharmGKB
PROSITE RRM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART RRM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RRM_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF54928 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A2I7N9Z4_HUMAN UniProtKB/TrEMBL
  B3KWD5 ENTREZGENE
  B4DN89 ENTREZGENE
  H0YG49 ENTREZGENE
  J3KP15_HUMAN UniProtKB/TrEMBL
  J3QL05_HUMAN UniProtKB/TrEMBL
  Q01130 ENTREZGENE
  Q53FN0 ENTREZGENE, UniProtKB/TrEMBL
  SRSF2_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B3KWD5 UniProtKB/Swiss-Prot
  B4DN89 UniProtKB/Swiss-Prot
  H0YG49 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-06-14 SRSF2  serine and arginine rich splicing factor 2  SRSF2  serine/arginine-rich splicing factor 2  Symbol and/or name change 5135510 APPROVED
2011-07-27 SRSF2  serine/arginine-rich splicing factor 2  SFRS2  splicing factor, arginine/serine-rich 2  Symbol and/or name change 5135510 APPROVED