ESRP2 - epithelial splicing regulatory protein 2 Gene

Homo sapiens

Also known as RBM35B

Gene ID: 80004 | Gene type: protein coding

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	Reference	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	Reference	Source
involved in regulation of RNA splicing	IDA IDA: Inferred from direct assay	19285943	GOA

Cellular Component GO Annotation	Evidence	Reference	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

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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04536	ESRP2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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