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    ESRP2 epithelial splicing regulatory protein 2 [ Homo sapiens (human) ]

    Gene ID: 80004, updated on 3-Apr-2024

    Summary

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    Official Symbol
    ESRP2provided by HGNC
    Official Full Name
    epithelial splicing regulatory protein 2provided by HGNC
    Primary source
    HGNC:HGNC:26152
    See related
    Ensembl:ENSG00000103067 MIM:612960; AllianceGenome:HGNC:26152
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    RBM35B
    Summary
    ESPR2 is an epithelial cell-type-specific splicing regulator (Warzecha et al., 2009 [PubMed 19285943]).[supplied by OMIM, Aug 2009]
    Expression
    Ubiquitous expression in skin (RPKM 25.7), esophagus (RPKM 22.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ESRP2 in Genome Data Viewer
    Location:
    16q22.1
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (68229033..68236127, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (74024780..74031874, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (68262936..68270030, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene nuclear factor of activated T cells 3 Neighboring gene small nucleolar RNA SNORA48 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11007 Neighboring gene ribosomal protein S12 pseudogene 27 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11008 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:68270229-68270817 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7641 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:68270818-68271405 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:68271406-68271994 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:68271995-68272581 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:68278082-68278620 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7644 Neighboring gene microRNA 6773 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:68279742-68280242 Neighboring gene phospholipase A2 group XV Neighboring gene uncharacterized LOC124903704 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7645

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. The epithelial splicing regulator ESRP2 is epigenetically repressed by DNA hypermethylation in Wilms tumour and acts as a tumour suppressor. Legge D, et al. Mol Oncol, 2022 Feb. PMID 34520622, Free PMC Article
    2. Androgen-regulated transcription of ESRP2 drives alternative splicing patterns in prostate cancer. Munkley J, et al. Elife, 2019 Sep 3. PMID 31478829, Free PMC Article
    3. Genetic information from discordant sibling pairs points to ESRP2 as a candidate trans-acting regulator of the CF modifier gene SCNN1B. Becker T, et al. Sci Rep, 2020 Dec 31. PMID 33384439, Free PMC Article
    4. Epithelial splicing regulatory protein 1 and 2 (ESRP1 and ESRP2) upregulation predicts poor prognosis in prostate cancer. Freytag M, et al. BMC Cancer, 2020 Dec 18. PMID 33339518, Free PMC Article
    5. Epithelial splicing regulatory protein 2-mediated alternative splicing reprograms hepatocytes in severe alcoholic hepatitis. Hyun J, et al. J Clin Invest, 2020 Apr 1. PMID 31945016, Free PMC Article

    See all (42) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Loss of ESRP2 Activates TAK1-MAPK Signaling through the Fetal RNA-Splicing Program to Promote Hepatocellular Carcinoma Progression.
      Title: Loss of ESRP2 Activates TAK1-MAPK Signaling through the Fetal RNA-Splicing Program to Promote Hepatocellular Carcinoma Progression.
    2. The epithelial splicing regulator ESRP2 is epigenetically repressed by DNA hypermethylation in Wilms tumour and acts as a tumour suppressor.
      Title: The epithelial splicing regulator ESRP2 is epigenetically repressed by DNA hypermethylation in Wilms tumour and acts as a tumour suppressor.
    3. Genetic information from discordant sibling pairs points to ESRP2 as a candidate trans-acting regulator of the CF modifier gene SCNN1B.
      Title: Genetic information from discordant sibling pairs points to ESRP2 as a candidate trans-acting regulator of the CF modifier gene SCNN1B.
    4. Epithelial splicing regulatory protein 1 and 2 (ESRP1 and ESRP2) upregulation predicts poor prognosis in prostate cancer.
      Title: Epithelial splicing regulatory protein 1 and 2 (ESRP1 and ESRP2) upregulation predicts poor prognosis in prostate cancer.
    5. Epithelial splicing regulatory protein 2-mediated alternative splicing reprograms hepatocytes in severe alcoholic hepatitis.
      Title: Epithelial splicing regulatory protein 2-mediated alternative splicing reprograms hepatocytes in severe alcoholic hepatitis.
    6. Here the authors find androgens regulate splicing through androgen receptor-mediated transcriptional control of the epithelial-specific splicing regulator ESRP2. Androgen stimulation induces splicing switches in many endogenous ESRP2-controlled mRNA isoforms, including splicing switches correlating with disease progression.
      Title: Androgen-regulated transcription of ESRP2 drives alternative splicing patterns in prostate cancer.
    7. In conclusion, our findings suggested that IFNG-AS1 may function as an oncogene in pituitary adenoma by interacting with ESRP2.
      Title: Long-noncoding RNA IFNG-AS1 exerts oncogenic properties by interacting with epithelial splicing regulatory protein 2 (ESRP2) in pituitary adenomas.
    8. Results showed that the expression patterns of these genes were indicative of the onset of EMT in in-vitro models, but not in tissue samples. However, the ratio between ESRP1 or ESRP2 and RBFOX2 significantly decreased during EMT and positively correlated with the EMT-specific phenotype in cell models. Low ESRP1/RBFOX2 ratio value was associated with a higher risk of metastasis in early breast cancer patients.
      Title: Splicing factor ratio as an index of epithelial-mesenchymal transition and tumor aggressiveness in breast cancer.
    9. Results indicate a tumor-suppressive role of the ring finger protein 111 (Arkadia)-epithelial splicing regulatory protein 2 (ESRP2) axis in clear-cell renal cell carcinoma (ccRCC).
      Title: The Arkadia-ESRP2 axis suppresses tumor progression: analyses in clear-cell renal cell carcinoma.
    10. The molecular mechanisms by which ESRP1 and ESPR2 exert positive as well as negative effects on cancer progression have been summarized. (Review)
      Title: Dual Roles for Epithelial Splicing Regulatory Proteins 1 (ESRP1) and 2 (ESRP2) in Cancer Progression.
    Submit: New GeneRIF Correction See all GeneRIFs (16)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Biological insights from 108 schizophrenia-associated genetic loci.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ21918, FLJ22248

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables mRNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables mRNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in alternative mRNA splicing, via spliceosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in branching involved in salivary gland morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in epithelial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in epithelial tube branching involved in lung morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of epithelial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of RNA splicing IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of RNA splicing IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in nucleoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of ribonucleoprotein complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    epithelial splicing regulatory protein 2
    Names
    RNA binding motif protein 35A
    RNA-binding motif protein 35B
    RNA-binding protein 35B

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001365264.1 → NP_001352193.1  epithelial splicing regulatory protein 2 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC020978, AK025571
      Consensus CDS
      CCDS92181.1
      UniProtKB/Swiss-Prot
      Q8N6H8, Q8WZ15, Q9H6I4, Q9H6T0
      UniProtKB/TrEMBL
      A0A0A1TTP8
      Related
      ENSP00000454554.1, ENST00000565858.5
      Conserved Domains (5) summary
      cd12507
      Location:258 → 332
      RRM1_ESRPs_Fusilli; RNA recognition motif 1 in epithelial splicing regulatory protein ESRP1, ESRP2, Drosophila RNA-binding protein Fusilli and similar proteins
      cd12742
      Location:474 → 554
      RRM3_ESRP1_ESRP2; RNA recognition motif in epithelial splicing regulatory protein ESRP1, ESRP2 and similar proteins
      cl10012
      Location:86 → 214
      DnaQ_like_exo; DnaQ-like (or DEDD) 3'-5' exonuclease domain superfamily
      cl17169
      Location:342 → 448
      RRM_SF; RNA recognition motif (RRM) superfamily
      cl26464
      Location:565 → 676
      Atrophin-1; Atrophin-1 family

    2. NM_001365265.1 → NP_001352194.1  epithelial splicing regulatory protein 2 isoform 3

      Status: VALIDATED

      Source sequence(s)
      BC030146, BG721782, LN680438, T36047
      UniProtKB/TrEMBL
      A0A0A1TE42, A0A0A1TTP8
      Conserved Domains (4) summary
      cd12507
      Location:248 → 322
      RRM1_ESRPs_Fusilli; RNA recognition motif 1 in epithelial splicing regulatory protein ESRP1, ESRP2, Drosophila RNA-binding protein Fusilli and similar proteins
      cd12742
      Location:464 → 544
      RRM3_ESRP1_ESRP2; RNA recognition motif in epithelial splicing regulatory protein ESRP1, ESRP2 and similar proteins
      cl10012
      Location:86 → 214
      DnaQ_like_exo; DnaQ-like (or DEDD) 3'-5' exonuclease domain superfamily
      cl17169
      Location:332 → 438
      RRM_SF; RNA recognition motif (RRM) superfamily

    3. NM_024939.3 → NP_079215.2  epithelial splicing regulatory protein 2 isoform 1

      See identical proteins and their annotated locations for NP_079215.2

      Status: VALIDATED

      Source sequence(s)
      BC030146, BG721782, BU943912, T36047
      Consensus CDS
      CCDS10863.1
      UniProtKB/TrEMBL
      A0A0A1TTP8
      Related
      ENSP00000418748.2, ENST00000473183.7
      Conserved Domains (4) summary
      cd12507
      Location:248 → 322
      RRM1_ESRPs_Fusilli; RNA recognition motif 1 in epithelial splicing regulatory protein ESRP1, ESRP2, Drosophila RNA-binding protein Fusilli and similar proteins
      cd12742
      Location:464 → 544
      RRM3_ESRP1_ESRP2; RNA recognition motif in epithelial splicing regulatory protein ESRP1, ESRP2 and similar proteins
      cl10012
      Location:86 → 214
      DnaQ_like_exo; DnaQ-like (or DEDD) 3'-5' exonuclease domain superfamily
      cl17169
      Location:332 → 438
      RRM_SF; RNA recognition motif (RRM) superfamily

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      68229033..68236127 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005256153.6 → XP_005256210.1  epithelial splicing regulatory protein 2 isoform X1

      UniProtKB/TrEMBL
      A0A0A1TTP8
      Conserved Domains (4) summary
      cd12507
      Location:247 → 321
      RRM1_ESRPs_Fusilli; RNA recognition motif 1 in epithelial splicing regulatory protein ESRP1, ESRP2, Drosophila RNA-binding protein Fusilli and similar proteins
      cd12742
      Location:463 → 543
      RRM3_ESRP1_ESRP2; RNA recognition motif in epithelial splicing regulatory protein ESRP1, ESRP2 and similar proteins
      cl10012
      Location:86 → 214
      DnaQ_like_exo; DnaQ-like (or DEDD) 3'-5' exonuclease domain superfamily
      cl17169
      Location:331 → 437
      RRM_SF; RNA recognition motif (RRM) superfamily

    2. XM_006721273.5 → XP_006721336.1  epithelial splicing regulatory protein 2 isoform X2

      See identical proteins and their annotated locations for XP_006721336.1

      UniProtKB/TrEMBL
      A0A0A1TTP8
      Conserved Domains (4) summary
      cd12737
      Location:122 → 201
      RRM1_ESRP2; RNA recognition motif 1 in epithelial splicing regulatory protein 2 (ESRP2) and similar proteins
      cd12742
      Location:338 → 418
      RRM3_ESRP1_ESRP2; RNA recognition motif in epithelial splicing regulatory protein ESRP1, ESRP2 and similar proteins
      cl10012
      Location:2 → 88
      DnaQ_like_exo; DnaQ-like (or DEDD) 3'-5' exonuclease domain superfamily
      cl17169
      Location:206 → 312
      RRM_SF; RNA recognition motif (RRM) superfamily

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      74024780..74031874 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054313967.1 → XP_054169942.1  epithelial splicing regulatory protein 2 isoform X1

    2. XM_054313968.1 → XP_054169943.1  epithelial splicing regulatory protein 2 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H6T0.1 GenPept UniProtKB/Swiss-Prot:Q9H6T0

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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