ESRP2

epithelial splicing regulatory protein 2, the group of MicroRNA protein coding host genes|RNA binding motif containing

Basic information

Region (hg38): 16:68229033-68238102

Previous symbols: [ "RBM35B" ]

Links

ENSG00000103067 ∙ NCBI:80004 ∙ OMIM:612960 ∙ HGNC:26152 ∙ Uniprot:Q9H6T0 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ESRP2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ESRP2 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous					1	1
missense			68	1	1	70
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	68	1	2

Variants in ESRP2

This is a list of pathogenic ClinVar variants found in the ESRP2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
16-68230251-G-A		not specified	Uncertain significance (Jun 29, 2023)
16-68230267-G-A		not specified	Uncertain significance (Oct 12, 2024)
16-68230298-G-A		ESRP2-related disorder	Likely benign (Feb 21, 2019)
16-68230306-C-G		ESRP2-related disorder	Likely benign (Jun 22, 2023)
16-68230309-C-G		not specified	Likely benign (Dec 13, 2023)
16-68230309-C-T		ESRP2-related disorder	Benign (Dec 31, 2019)
16-68230412-G-A		ESRP2-related disorder • not specified	Uncertain significance (Jan 16, 2024)
16-68230427-C-T		not specified	Uncertain significance (May 15, 2024)
16-68230431-C-T		ESRP2-related disorder	Benign (Sep 04, 2024)
16-68230432-G-A		not specified	Uncertain significance (Jun 29, 2023)
16-68230523-G-A		not specified	Uncertain significance (Aug 21, 2023)
16-68230890-G-A		ESRP2-related disorder	Likely benign (Sep 18, 2019)
16-68230951-G-A		ESRP2-related disorder	Likely benign (Apr 26, 2019)
16-68230967-G-A		not specified	Uncertain significance (Jun 17, 2024)
16-68231008-G-A		ESRP2-related disorder	Benign (May 20, 2019)
16-68231010-A-T		not specified	Uncertain significance (Jun 11, 2024)
16-68231180-G-A		not specified	Uncertain significance (Nov 30, 2022)
16-68231180-G-T		not specified	Uncertain significance (Dec 28, 2022)
16-68231214-G-A		not specified	Uncertain significance (Nov 17, 2022)
16-68231240-C-T		not specified	Uncertain significance (Nov 14, 2023)
16-68231243-C-G		not specified	Uncertain significance (Mar 14, 2025)
16-68231247-TCTC-T		Cleft lip with or without cleft palate	Uncertain significance (-)
16-68231282-C-T		not specified	Uncertain significance (Jul 30, 2023)
16-68231302-A-G		ESRP2-related disorder	Likely benign (Jan 04, 2021)
16-68231303-T-C		not specified	Uncertain significance (Aug 15, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ESRP2	protein_coding	protein_coding	ENST00000473183	15	8992

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.33e-7	0.999	125680	0	68	125748	0.000270

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.824	400	449	0.891	0.0000278	4535
Missense in Polyphen		167	196.07	0.85175		2034
Synonymous	1.37	166	190	0.874	0.0000118	1593
Loss of Function	2.90	17	35.7	0.476	0.00000204	363

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000603	0.000603
Ashkenazi Jewish	0.000199	0.000198
East Asian	0.000109	0.000109
Finnish	0.000832	0.000786
European (Non-Finnish)	0.000265	0.000264
Middle Eastern	0.000109	0.000109
South Asian	0.0000795	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: 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. {ECO:0000269|PubMed:19285943}.
• Pathway: FGFR2 alternative splicing;Signaling by FGFR2;Signal Transduction;Signaling by FGFR;Signaling by Receptor Tyrosine Kinases (Consensus)

Intolerance Scores

• loftool: 0.741
• rvis_EVS: -0.73
• rvis_percentile_EVS: 14.14

Haploinsufficiency Scores

• pHI: 0.876
• hipred: Y
• hipred_score: 0.554
• ghis: 0.556

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: H
• gene_indispensability_pred: N
• gene_indispensability_score: 0.138

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Esrp2
• Phenotype: embryo phenotype; respiratory system phenotype; liver/biliary system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); limbs/digits/tail phenotype; digestive/alimentary phenotype; homeostasis/metabolism phenotype; renal/urinary system phenotype; skeleton phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); growth/size/body region phenotype; endocrine/exocrine gland phenotype; craniofacial phenotype; cellular phenotype

Gene ontology

• Biological process: alternative mRNA splicing, via spliceosome;fibroblast growth factor receptor signaling pathway;regulation of RNA splicing;positive regulation of epithelial cell proliferation;epithelial tube branching involved in lung morphogenesis;branching involved in salivary gland morphogenesis
• Cellular component: nucleus;nucleoplasm
• Molecular function: RNA binding;mRNA binding