ESRP2 - epithelial splicing regulatory protein 2 Gene

Also Known as RBM35B

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 80004

About ESRP2

Cytogenetic location: 16q22.1 Genomic coordinates (GRCh38): 16:68,229,033-68,236,127 (from NCBI)

This gene has 12 transcripts (splice variants), 209 orthologues and 8 paralogues. Ubiquitous expression in skin (RPKM 25.7), esophagus (RPKM 22.3) and 25 other tissues.

Summary

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

ESRP2 Products (3)

mRNA Protein Name
NM_001365264.1 NP_001352193.1 epithelial splicing regulatory protein 2 isoform 2
NM_001365265.1 NP_001352194.1 epithelial splicing regulatory protein 2 isoform 3
NM_024939.3 NP_079215.2 epithelial splicing regulatory protein 2 isoform 1

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables mRNA binding IDA
IDA: Inferred from direct assay
19285943 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
30021884 GOA
Biological Process GO Annotation Evidence References Source
involved in regulation of RNA splicing IDA
IDA: Inferred from direct assay
19285943 GOA
Cellular Component GO Annotation Evidence References Source
located in nucleus IDA
IDA: Inferred from direct assay
19285943 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

ESRP2 Protein Structure

(259 - 328)

(360 - 432)

(477 - 549)

  • 0
  • 200
  • 400
  • 600
  • 727 a.a.
Protein Preferred Names Protein Names

epithelial splicing regulatory protein 2

  • RNA binding motif protein 35A

ESRP2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
ESRP2 Q9H6T0 HSPA8 Homo sapiens P11142
Crosslink
30021884
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Cleft Lip With Or Without Cleft Palate

  • Tessier Cleft Number 1,2
Deafness, Autosomal Recessive 109

  • DFNB109

  • Autosomal Recessive Nonsyndromic Deafness 109

  • Autosomal Recessive Deafness 109

  • Deafness, Autosomal Recessive, 109
Dystonia 16

  • DYT16

  • Dyt-Prkra

  • Dystonia-16

  • Young-Onset Dystonia-

  • Early-Onset Dystonia Parkinsonism

  • Dystonia, Type 16
Cleft Palate, Isolated

  • Cleft Palate

  • Isolated Cleft Palate

  • CPI

  • Cp

  • Palatoschisis

  • Cleft Palate Isolated

  • Uranostaphyloschisis

  • Congenital Fissure Of Palate

  • Cleft Of Secondary Palate
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

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS04536 ESRP2 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Canis familiaris ESRP2 VGNC VGNC:40479
Bos taurus ESRP2 VGNC VGNC:28607
Felis catus ESRP2 VGNC VGNC:61966
Mus musculus ESRP2 MGD MGI:1924661
Macaca mulatta ESRP2 VGNC VGNC:72362
Rattus norvegicus ESRP2 RGD RGD:1310855
Others ESRP2 NCBI