ESPR2 is an epithelial cell-type-specific splicing regulator (Warzecha et al., 2009 [PubMed 19285943]).[supplied by OMIM, Aug 2009] See more...

Aliases for ESRP2 Gene

Aliases for ESRP2 Gene

  • Epithelial Splicing Regulatory Protein 2 2 3 4 5
  • RNA-Binding Motif Protein 35B 3 4
  • RNA-Binding Protein 35B 3 4
  • RBM35B 3 4
  • RNA Binding Motif Protein 35A 3
  • RNA Binding Motif Protein 35B 2

External Ids for ESRP2 Gene

Previous HGNC Symbols for ESRP2 Gene

  • RBM35B

Previous GeneCards Identifiers for ESRP2 Gene

  • GC16M066821
  • GC16M068259
  • GC16M054135
  • GC16M068263

Summaries for ESRP2 Gene

Entrez Gene Summary for ESRP2 Gene

  • ESPR2 is an epithelial cell-type-specific splicing regulator (Warzecha et al., 2009 [PubMed 19285943]).[supplied by OMIM, Aug 2009]

GeneCards Summary for ESRP2 Gene

ESRP2 (Epithelial Splicing Regulatory Protein 2) is a Protein Coding gene. Diseases associated with ESRP2 include Atrial Septal Defect 1 and Cleft Palate, Isolated. Among its related pathways are Signaling by GPCR and Formation of HIV-1 elongation complex containing HIV-1 Tat. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and nucleotide binding. An important paralog of this gene is ESRP1.

UniProtKB/Swiss-Prot Summary for ESRP2 Gene

  • mRNA splicing factor that regulates the formation of epithelial cell-specific isoforms. Specifically regulates the expression of FGFR2-IIIb, an epithelial cell-specific isoform of FGFR2. Also regulates the splicing of CD44, CTNND1, ENAH, 3 transcripts that undergo changes in splicing during the epithelial-to-mesenchymal transition (EMT). Acts by directly binding specific sequences in mRNAs. Binds the GU-rich sequence motifs in the ISE/ISS-3, a cis-element regulatory region present in the mRNA of FGFR2.

Additional gene information for ESRP2 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ESRP2 Gene

Genomics for ESRP2 Gene

GeneHancer (GH) Regulatory Elements for ESRP2 Gene

Promoters and enhancers for ESRP2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16J068233 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 501.9 +2.2 2172 5.3 EP300 ZBTB40 ZNF217 ZSCAN5C MYC POLR2G USF1 SP1 NCOR1 PHF8 ESRP2 ENSG00000261469 CTCF CENPT EDC4 PRMT7 ENSG00000263276 DUS2 ZDHHC1 ENSG00000270165
GH16J068239 Promoter/Enhancer 1.2 Ensembl ENCODE dbSUPER 500.7 -2.0 -1998 1.4 ZNF217 CTCF GABPA RAD21 TRIM22 HDAC2 SIN3A TCF12 SMC3 MYC ESRP2 PRMT7 PLA2G15 L13708-003
GH16J068238 Promoter 0.3 Ensembl 500.7 -0.9 -899 0.4 ENSG00000261469 ESRP2 PLA2G15 L13708-003
GH16J068200 Enhancer 0.9 Ensembl dbSUPER 11.4 +37.8 37801 1.4 ZBTB40 FOS OSR2 FOXA2 FOSL2 FOSL1 FOXA1 NR2F1 IKZF1 DPF2 ENSG00000262514 ENSG00000279621 ESRP2 PLA2G15 SLC7A6 PRMT7 SLC7A6OS L13708-003 NFATC3
GH16J068201 Enhancer 0.8 ENCODE dbSUPER 11.4 +36.1 36147 1.4 ZNF623 TRIM28 RBM22 ZBTB11 ZNF426 CTCF SCRT1 FEZF1 ZNF34 ZNF781 ENSG00000279621 SLC7A6OS ZFP90 SNTB2 ESRP2 PLA2G15 SLC7A6 PRMT7 RPS12P27 L13708-003
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ESRP2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ESRP2

Top Transcription factor binding sites by QIAGEN in the ESRP2 gene promoter:
  • C/EBPalpha
  • COMP1
  • GR
  • GR-alpha
  • NF-E2
  • NF-E2 p45
  • Nkx2-5
  • SREBP-1a
  • Zic1
  • Zic3

Genomic Locations for ESRP2 Gene

Genomic Locations for ESRP2 Gene
chr16:68,228,547-68,238,102
(GRCh38/hg38)
Size:
9,556 bases
Orientation:
Minus strand
chr16:68,262,450-68,272,005
(GRCh37/hg19)
Size:
9,556 bases
Orientation:
Minus strand

Genomic View for ESRP2 Gene

Genes around ESRP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ESRP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ESRP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ESRP2 Gene

Proteins for ESRP2 Gene

  • Protein details for ESRP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H6T0-ESRP2_HUMAN
    Recommended name:
    Epithelial splicing regulatory protein 2
    Protein Accession:
    Q9H6T0
    Secondary Accessions:
    • Q8N6H8
    • Q8WZ15
    • Q9H6I4

    Protein attributes for ESRP2 Gene

    Size:
    727 amino acids
    Molecular mass:
    78401 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAL55761.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=BAB15275.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for ESRP2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ESRP2 Gene

Post-translational modifications for ESRP2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ESRP2 Gene

Domains & Families for ESRP2 Gene

Gene Families for ESRP2 Gene

Protein Domains for ESRP2 Gene

Blocks:
  • RNA-binding region RNP-1 (RNA recognition motif)
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ESRP2 Gene

GenScript: Design optimal peptide antigens:
  • RNA-binding protein 35B (ESRP2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9H6T0

UniProtKB/Swiss-Prot:

ESRP2_HUMAN :
  • Belongs to the ESRP family.
Family:
  • Belongs to the ESRP family.
genes like me logo Genes that share domains with ESRP2: view

Function for ESRP2 Gene

Molecular function for ESRP2 Gene

UniProtKB/Swiss-Prot Function:
mRNA splicing factor that regulates the formation of epithelial cell-specific isoforms. Specifically regulates the expression of FGFR2-IIIb, an epithelial cell-specific isoform of FGFR2. Also regulates the splicing of CD44, CTNND1, ENAH, 3 transcripts that undergo changes in splicing during the epithelial-to-mesenchymal transition (EMT). Acts by directly binding specific sequences in mRNAs. Binds the GU-rich sequence motifs in the ISE/ISS-3, a cis-element regulatory region present in the mRNA of FGFR2.
UniProtKB/Swiss-Prot Induction:
Down-regulated during the epithelial-to-mesenchymal transition (EMT).

Phenotypes From GWAS Catalog for ESRP2 Gene

Gene Ontology (GO) - Molecular Function for ESRP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003723 RNA binding IEA,HDA 22658674
GO:0003729 mRNA binding IDA 19285943
genes like me logo Genes that share ontologies with ESRP2: view
genes like me logo Genes that share phenotypes with ESRP2: view

Animal Models for ESRP2 Gene

MGI Knock Outs for ESRP2:
  • Esrp2 Esrp2<tm1(KOMP)Vlcg>

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ESRP2 Gene

Localization for ESRP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ESRP2 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ESRP2 gene
Compartment Confidence
nucleus 5
plasma membrane 2
cytoskeleton 2
cytosol 2
extracellular 1
mitochondrion 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ESRP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 19285943
GO:0005654 nucleoplasm TAS --
genes like me logo Genes that share ontologies with ESRP2: view

Pathways & Interactions for ESRP2 Gene

genes like me logo Genes that share pathways with ESRP2: view

Pathways by source for ESRP2 Gene

Gene Ontology (GO) - Biological Process for ESRP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000380 alternative mRNA splicing, via spliceosome IEA --
GO:0006397 mRNA processing IEA --
GO:0008380 RNA splicing IEA --
GO:0008543 fibroblast growth factor receptor signaling pathway TAS --
GO:0043484 regulation of RNA splicing IDA,IEA 19285943
genes like me logo Genes that share ontologies with ESRP2: view

No data available for SIGNOR curated interactions for ESRP2 Gene

Drugs & Compounds for ESRP2 Gene

No Compound Related Data Available

Transcripts for ESRP2 Gene

mRNA/cDNA for ESRP2 Gene

3 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ESRP2 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b · 3c ^ 4a · 4b · 4c ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c · 7d ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b
SP1: - - - - -
SP2: - - - - - -
SP3: - - - -
SP4: - - -
SP5: - - -
SP6: - - -
SP7: -
SP8:

Relevant External Links for ESRP2 Gene

GeneLoc Exon Structure for
ESRP2

Expression for ESRP2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ESRP2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ESRP2 Gene

This gene is overexpressed in Esophagus - Mucosa (x8.8) and Liver (x5.4).

Protein differential expression in normal tissues from HIPED for ESRP2 Gene

This gene is overexpressed in Esophagus (23.4), Pancreas (22.3), and Placenta (15.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ESRP2 Gene



Protein tissue co-expression partners for ESRP2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ESRP2

SOURCE GeneReport for Unigene cluster for ESRP2 Gene:

Hs.592053

mRNA Expression by UniProt/SwissProt for ESRP2 Gene:

Q9H6T0-ESRP2_HUMAN
Tissue specificity: Epithelial cell-specific.

Evidence on tissue expression from TISSUES for ESRP2 Gene

  • Liver(4.3)
genes like me logo Genes that share expression patterns with ESRP2: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for ESRP2 Gene

Orthologs for ESRP2 Gene

This gene was present in the common ancestor of animals.

Orthologs for ESRP2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ESRP2 31 30
  • 99.4 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ESRP2 31 30
  • 91.07 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ESRP2 31 30
  • 90.82 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Esrp2 17 31 30
  • 88.28 (n)
rat
(Rattus norvegicus)
Mammalia Esrp2 30
  • 87.87 (n)
oppossum
(Monodelphis domestica)
Mammalia ESRP2 31
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ESRP2 31
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves ESRP2 31 30
  • 66.28 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ESRP2 31
  • 66 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii esrp2 31 30
  • 65.05 (n)
OneToOne
sbcb404 30
fruit fly
(Drosophila melanogaster)
Insecta fus 31 30
  • 53.03 (n)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea sym-2 31 30
  • 48.52 (n)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10873 31
  • 45 (a)
OneToMany
Species where no ortholog for ESRP2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for ESRP2 Gene

ENSEMBL:
Gene Tree for ESRP2 (if available)
TreeFam:
Gene Tree for ESRP2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ESRP2: view image

Paralogs for ESRP2 Gene

Paralogs for ESRP2 Gene

(1) SIMAP similar genes for ESRP2 Gene using alignment to 4 proteins:

  • ESRP2_HUMAN
  • J3KRF2_HUMAN
  • J3QKU3_HUMAN
  • J3QQJ9_HUMAN
genes like me logo Genes that share paralogs with ESRP2: view

Variants for ESRP2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ESRP2 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
780183 Benign: not provided 68,230,309(-) C/T MISSENSE_VARIANT,SYNONYMOUS_VARIANT
780184 Benign: not provided 68,231,569(-) C/T SYNONYMOUS_VARIANT
rs12597504 - p.Ser111Leu
rs36054935 - p.Pro627Ser
rs3743738 - p.Ala528Val

Additional dbSNP identifiers (rs#s) for ESRP2 Gene

Variation tolerance for ESRP2 Gene

Residual Variation Intolerance Score: 13.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.62; 56.59% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ESRP2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ESRP2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for ESRP2 Gene

Disorders for ESRP2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for ESRP2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
atrial septal defect 1
  • asd1
cleft palate, isolated
  • cpi
- elite association - COSMIC cancer census association via MalaCards
Search ESRP2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ESRP2

genes like me logo Genes that share disorders with ESRP2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ESRP2 Gene

Publications for ESRP2 Gene

  1. ESRP1 and ESRP2 are epithelial cell-type-specific regulators of FGFR2 splicing. (PMID: 19285943) Warzecha CC … Carstens RP (Molecular cell 2009) 2 3 4 54
  2. Epithelial splicing regulatory proteins 1 (ESRP1) and 2 (ESRP2) suppress cancer cell motility via different mechanisms. (PMID: 25143390) Ishii H … Miyazawa K (The Journal of biological chemistry 2014) 2 3 54
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  5. Large-scale cDNA transfection screening for genes related to cancer development and progression. (PMID: 15498874) Wan D … Gu J (Proceedings of the National Academy of Sciences of the United States of America 2004) 3 4 54

Products for ESRP2 Gene

Sources for ESRP2 Gene