ESRP2

Summary

ESRP2 (epithelial splicing regulatory protein 2, HGNC:26152) is a protein-coding gene on chromosome 16q22.1, encoding Epithelial splicing regulatory protein 2 (Q9H6T0). mRNA splicing factor that regulates the formation of epithelial cell-specific isoforms.

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

Source: NCBI Gene 80004 — RefSeq curated summary.

At a glance

• Gene–disease (curated): orofacial cleft (Moderate, GenCC)
• GWAS associations: 3
• Clinical variants (ClinVar): 145 total — 2 likely-pathogenic
• MANE Select transcript: NM_024939

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26152
Approved symbol	ESRP2
Name	epithelial splicing regulatory protein 2
Location	16q22.1
Locus type	gene with protein product
Status	Approved
Aliases	FLJ21918
Ensembl gene	ENSG00000103067
Ensembl biotype	protein_coding
OMIM	612960
Entrez	80004

Gene structure

Transcript identifiers

Ensembl transcripts: 19 — 11 protein_coding, 7 retained_intron, 1 nonsense_mediated_decay

ENST00000251366, ENST00000473183, ENST00000562567, ENST00000562724, ENST00000562738, ENST00000563159, ENST00000564382, ENST00000564465, ENST00000565213, ENST00000565858, ENST00000566774, ENST00000569964, ENST00000889113, ENST00000889114, ENST00000889115, ENST00000889116, ENST00000889117, ENST00000889118, ENST00000929965

RefSeq mRNA: 3 — MANE Select: NM_024939 NM_001365264, NM_001365265, NM_024939

CCDS: CCDS10863, CCDS92181

Canonical transcript exons

ENST00000473183 — 15 exons

Exon	Start	End
ENSE00000691931	68232371	68232503
ENSE00000844357	68232577	68232687
ENSE00001881383	68235848	68236127
ENSE00002680855	68229033	68230315
ENSE00003460432	68231178	68231376
ENSE00003508917	68232246	68232288
ENSE00003511509	68231482	68231694
ENSE00003557492	68232761	68232815
ENSE00003579861	68233327	68233425
ENSE00003606689	68233768	68233882
ENSE00003626766	68230389	68230554
ENSE00003631692	68230841	68231027
ENSE00003634232	68235634	68235762
ENSE00003653820	68231802	68232103
ENSE00003671787	68233994	68234107

Expression profiles

Bgee: expression breadth ubiquitous, 137 present calls, max score 97.81.

FANTOM5 (CAGE): breadth broad, TPM avg 7.3451 / max 118.0436, expressed in 526 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
157851	6.6839	507
157852	0.2828	168
157850	0.2597	154
157854	0.0663	25
157853	0.0523	18

Top tissues by expression

140 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
lower esophagus mucosa	UBERON:0035834	97.81	gold quality
esophagus mucosa	UBERON:0002469	96.59	gold quality
right lobe of liver	UBERON:0001114	95.17	gold quality
right lobe of thyroid gland	UBERON:0001119	95.02	gold quality
body of pancreas	UBERON:0001150	95.00	gold quality
mucosa of transverse colon	UBERON:0004991	94.69	gold quality
liver	UBERON:0002107	94.21	gold quality
skin of abdomen	UBERON:0001416	94.15	gold quality
left lobe of thyroid gland	UBERON:0001120	94.12	gold quality
thyroid gland	UBERON:0002046	93.67	gold quality
zone of skin	UBERON:0000014	93.49	gold quality
metanephros cortex	UBERON:0010533	93.06	gold quality
skin of leg	UBERON:0001511	92.98	gold quality
rectum	UBERON:0001052	92.71	gold quality
minor salivary gland	UBERON:0001830	91.44	gold quality
saliva-secreting gland	UBERON:0001044	91.38	gold quality
pancreas	UBERON:0001264	90.43	gold quality
right uterine tube	UBERON:0001302	90.28	gold quality
adult mammalian kidney	UBERON:0000082	87.85	gold quality
duodenum	UBERON:0002114	87.68	gold quality
prostate gland	UBERON:0002367	87.62	gold quality
transverse colon	UBERON:0001157	87.31	gold quality
upper lobe of left lung	UBERON:0008952	87.02	gold quality
body of stomach	UBERON:0001161	86.95	gold quality
stomach	UBERON:0000945	86.48	gold quality
vagina	UBERON:0000996	86.20	gold quality
tonsil	UBERON:0002372	86.01	gold quality
lung	UBERON:0002048	85.93	gold quality
kidney	UBERON:0002113	85.65	gold quality
placenta	UBERON:0001987	85.23	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	10.44
E-MTAB-7008	no	62.74

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): CTCF, ZEB1, ZEB2

miRNA regulators (miRDB)

97 targeting ESRP2, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-4692	100.00	67.32	2066
HSA-MIR-3120-5P	100.00	65.56	965
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-LET-7A-5P	99.98	72.29	1790
HSA-LET-7B-5P	99.98	72.31	1790
HSA-LET-7C-5P	99.98	72.29	1790
HSA-LET-7E-5P	99.98	72.29	1790
HSA-LET-7F-5P	99.98	72.56	1784
HSA-LET-7G-5P	99.98	72.37	1784
HSA-LET-7I-5P	99.98	72.37	1788
HSA-MIR-98-5P	99.98	72.33	1787
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-512-3P	99.97	67.35	1049
HSA-MIR-493-5P	99.96	72.47	2382
HSA-LET-7D-5P	99.96	71.76	1632
HSA-MIR-4458	99.96	71.64	1650
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-6835-3P	99.93	70.49	2904
HSA-MIR-3119	99.92	71.34	2390
HSA-MIR-8087	99.90	69.55	1351
HSA-MIR-548E-5P	99.89	72.73	4486
HSA-MIR-5003-3P	99.85	69.29	2517
HSA-MIR-383-3P	99.85	65.84	1359
HSA-MIR-520F-3P	99.82	71.32	1216
HSA-MIR-3121-3P	99.82	71.96	3630

Literature-anchored findings (GeneRIF, showing 16)

• ESRP1 and ESRP2 are epithelial cell-type-specific regulators of FGFR2 splicing. (PMID:19285943)
• results further establish ESRP1 and ESRP2 as global regulators of an epithelial splicing regulatory network. (PMID:19829082)
• ESRP2 coordinates a complex alternative splicing network that adds an important post-transcriptional layer to the changes in gene expression that underlie epithelial-mesenchymal transitions during development and disease. (PMID:20711167)
• functions of the ESRP2 in an epithelial posttranscriptional gene expression program. (PMID:22354987)
• ESRP1 and ESRP2 suppress cancer cell motility via different mechanisms. (PMID:25143390)
• 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). (PMID:26522722)
• Findings define a direct role for ESRP2 in the generation of conserved repertoires of adult splice isoforms that facilitate terminal differentiation and maturation of hepatocytes. (PMID:26531099)
• The molecular mechanisms by which ESRP1 and ESPR2 exert positive as well as negative effects on cancer progression have been summarized. (Review) (PMID:27401076)
• 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. (PMID:27911856)
• In conclusion, our findings suggested that IFNG-AS1 may function as an oncogene in pituitary adenoma by interacting with ESRP2. (PMID:30322807)
• 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. (PMID:31478829)
• Epithelial splicing regulatory protein 2-mediated alternative splicing reprograms hepatocytes in severe alcoholic hepatitis. (PMID:31945016)
• Epithelial splicing regulatory protein 1 and 2 (ESRP1 and ESRP2) upregulation predicts poor prognosis in prostate cancer. (PMID:33339518)
• Genetic information from discordant sibling pairs points to ESRP2 as a candidate trans-acting regulator of the CF modifier gene SCNN1B. (PMID:33384439)
• The epithelial splicing regulator ESRP2 is epigenetically repressed by DNA hypermethylation in Wilms tumour and acts as a tumour suppressor. (PMID:34520622)
• Loss of ESRP2 Activates TAK1-MAPK Signaling through the Fetal RNA-Splicing Program to Promote Hepatocellular Carcinoma Progression. (PMID:37985644)

Cross-species orthologs

8 orthologs

Organism	Symbol	Gene ID
danio_rerio	esrp2	ENSDARG00000018814
mus_musculus	Esrp2	ENSMUSG00000084128
rattus_norvegicus	Esrp2	ENSRNOG00000023177
drosophila_melanogaster	fus	FBGN0023441
drosophila_melanogaster	glo	FBGN0259139
caenorhabditis_elegans		WBGENE00006367
caenorhabditis_elegans	rbm-12	WBGENE00013703
caenorhabditis_elegans		WBGENE00022253

Paralogs (8): HNRNPH3 (ENSG00000096746), ESRP1 (ENSG00000104413), HNRNPH2 (ENSG00000126945), GRSF1 (ENSG00000132463), HNRNPH1 (ENSG00000169045), HNRNPF (ENSG00000169813), RBM12B (ENSG00000183808), RBM12 (ENSG00000244462)

Protein

Protein identifiers

Epithelial splicing regulatory protein 2 — Q9H6T0 (reviewed: Q9H6T0)

Alternative names: RNA-binding motif protein 35B, RNA-binding protein 35B

All UniProt accessions (4): Q9H6T0, J3KRF2, J3QKU3, J3QQJ9

UniProt curated annotations — full annotation on UniProt →

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.

Subunit / interactions. Interacts with RBPMS.

Subcellular location. Nucleus.

Tissue specificity. Epithelial cell-specific.

Induction. Down-regulated during the epithelial-to-mesenchymal transition (EMT).

Similarity. Belongs to the ESRP family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9H6T0-1	1	yes
Q9H6T0-2	2

RefSeq proteins (3): NP_001352193, NP_001352194, NP_079215* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000504	RRM_dom	Domain
IPR012337	RNaseH-like_sf	Homologous_superfamily
IPR012677	Nucleotide-bd_a/b_plait_sf	Homologous_superfamily
IPR035979	RBD_domain_sf	Homologous_superfamily
IPR036397	RNaseH_sf	Homologous_superfamily
IPR050666	ESRP	Family

UniProt features (12 total): domain 3, sequence variant 3, modified residue 2, chain 1, sequence conflict 1, region of interest 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9H6T0-F1	73.87	0.38

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (2): 83, 573

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-6803529	FGFR2 alternative splicing

MSigDB gene sets: 184 (showing top): GOBP_MORPHOGENESIS_OF_AN_EPITHELIUM, GOBP_EPITHELIUM_DEVELOPMENT, FARMER_BREAST_CANCER_CLUSTER_7, GOBP_GLAND_MORPHOGENESIS, HNF3ALPHA_Q6, chr16q22, GOBP_SALIVARY_GLAND_DEVELOPMENT, JAEGER_METASTASIS_DN, GOBP_EPITHELIAL_TUBE_BRANCHING_INVOLVED_IN_LUNG_MORPHOGENESIS, GOBP_ALTERNATIVE_MRNA_SPLICING_VIA_SPLICEOSOME, REACTOME_SIGNALING_BY_FGFR, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GOBP_LUNG_MORPHOGENESIS, AREB6_01, AAAYRNCTG_UNKNOWN

GO Biological Process (8): alternative mRNA splicing, via spliceosome (GO:0000380), regulation of RNA splicing (GO:0043484), epithelial cell proliferation (GO:0050673), positive regulation of epithelial cell proliferation (GO:0050679), epithelial tube branching involved in lung morphogenesis (GO:0060441), branching involved in salivary gland morphogenesis (GO:0060445), mRNA processing (GO:0006397), RNA splicing (GO:0008380)

GO Molecular Function (4): RNA binding (GO:0003723), mRNA binding (GO:0003729), nucleic acid binding (GO:0003676), protein binding (GO:0005515)

GO Cellular Component (3): nucleus (GO:0005634), nucleoplasm (GO:0005654), ribonucleoprotein complex (GO:1990904)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Signaling by FGFR2	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
RNA processing	2
binding	2
mRNA splicing, via spliceosome	1
RNA splicing	1
regulation of gene expression	1
regulation of primary metabolic process	1
cell population proliferation	1
positive regulation of cell population proliferation	1
epithelial cell proliferation	1
regulation of epithelial cell proliferation	1
branching morphogenesis of an epithelial tube	1
lung morphogenesis	1
salivary gland morphogenesis	1
morphogenesis of a branching epithelium	1
mRNA metabolic process	1
nucleic acid binding	1
RNA binding	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
cellular anatomical structure	1
protein-containing complex	1

Protein interactions and networks

STRING

964 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ESRP2	ENAH	Q8N8S7	904
ESRP2	CTNND1	O60716	841
ESRP2	RRM1	P23921	820
ESRP2	FGFR2	P18443	754
ESRP2	QKI	Q96PU8	678
ESRP2	CD44	P16070	668
ESRP2	RBFOX2	O43251	642
ESRP2	HNRNPM	P52272	591
ESRP2	RBM47	A0AV96	564
ESRP2	RNF111	Q6ZNA4	564
ESRP2	MBNL1	Q9NR56	541
ESRP2	SF3B1	O75533	517
ESRP2	SRRM1	Q8IYB3	515
ESRP2	SRPK1	Q96SB4	508
ESRP2	ARHGEF10L	Q9HCE6	506

IntAct

54 interactions, top by confidence:

A	B	Type	Score
RFXANK	RFXAP	psi-mi:“MI:0914”(association)	0.780
TUBA1B	TXNDC9	psi-mi:“MI:0914”(association)	0.640
ESRP2	HSPA8	psi-mi:“MI:0915”(physical association)	0.560
FOXP3	FOXP2	psi-mi:“MI:0914”(association)	0.530
HSPB8	VWA8	psi-mi:“MI:0914”(association)	0.530
CLEC11A	VWA8	psi-mi:“MI:0914”(association)	0.530
APBA3	CLSTN1	psi-mi:“MI:0914”(association)	0.530
ESRP2	HSP90B1	psi-mi:“MI:0915”(physical association)	0.400
ESRP2	H1-1	psi-mi:“MI:0915”(physical association)	0.400
NUMBL	ESRP2	psi-mi:“MI:0915”(physical association)	0.370
C9orf72	CHD2	psi-mi:“MI:0914”(association)	0.350
HNRNPCL2	SMCHD1	psi-mi:“MI:0914”(association)	0.350
	POLRMT	psi-mi:“MI:0914”(association)	0.350
HNRNPLL	TBX3	psi-mi:“MI:0914”(association)	0.350
B4GALT2	LENG9	psi-mi:“MI:0914”(association)	0.350
ATG7	IFT56	psi-mi:“MI:0914”(association)	0.350
TRMU	IFT56	psi-mi:“MI:0914”(association)	0.350
NPAS1	CIBAR1	psi-mi:“MI:0914”(association)	0.350
INF2	PIPSL	psi-mi:“MI:0914”(association)	0.350
HSPA8	SBNO1	psi-mi:“MI:0914”(association)	0.350
FOXF2	POTEF	psi-mi:“MI:0914”(association)	0.350
PLEKHG7	MROH6	psi-mi:“MI:0914”(association)	0.350
HES6	RGPD3	psi-mi:“MI:0914”(association)	0.350
D2HGDH	ZSWIM8	psi-mi:“MI:0914”(association)	0.350
PLBD1	ZSWIM8	psi-mi:“MI:0914”(association)	0.350
PSG11	ZSWIM8	psi-mi:“MI:0914”(association)	0.350
C9orf163	ZSWIM8	psi-mi:“MI:0914”(association)	0.350
SULT1C4	ZSWIM8	psi-mi:“MI:0914”(association)	0.350
CRYBB3	ARHGAP32	psi-mi:“MI:0914”(association)	0.350
MBNL1	A2ML1	psi-mi:“MI:0914”(association)	0.350

BioGRID (84): ESRP2 (Affinity Capture-MS), ESRP2 (Affinity Capture-MS), ESRP2 (Affinity Capture-MS), ESRP2 (Affinity Capture-Western), ESRP2 (Affinity Capture-MS), ESRP2 (Affinity Capture-MS), ESRP2 (Affinity Capture-MS), ESRP2 (Affinity Capture-MS), ESRP2 (Affinity Capture-MS), ESRP2 (Proximity Label-MS), ESRP2 (Proximity Label-MS), ESRP2 (Proximity Label-MS), ESRP2 (Proximity Label-MS), ESRP2 (Proximity Label-MS), ESRP2 (Proximity Label-MS)

ESM2 similar proteins: A0A8M1NHK4, A0AV96, A1L1G1, B2RYD2, B2RYJ8, B4F7E7, E2QY99, O46036, O95758, P86049, Q08BH5, Q22708, Q292F9, Q3US41, Q3ZBA8, Q4U2V3, Q5PR98, Q5R5P4, Q5R9H4, Q5RBN6, Q5XK84, Q5YD48, Q5ZLR4, Q66H68, Q66KM2, Q6DEZ7, Q7JUR6, Q7ZVR8, Q7ZY29, Q7ZY73, Q804S5, Q86X55, Q8BHD7, Q8IVH8, Q8JHF4, Q8K0G8, Q8TBY0, Q8VBU2, Q91WT8, Q923K9

Diamond homologs: A1L1G1, A8WPC5, B2RYD2, B2RYJ8, O35737, P31943, P52597, P55795, P70333, Q12849, Q22708, Q3SZF3, Q3US41, Q5E9J1, Q5RD26, Q5ZLR4, Q60HC3, Q6AY09, Q6DEZ7, Q6NXG1, Q794E4, Q7ZVR8, Q7ZY29, Q8C5Q4, Q8K0G8, Q8R3C6, Q8VHV7, Q9BJZ5, Q9H6T0, Q9Z2X1, P31942, Q9Y4C8

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
RNF111	“up-regulates activity”	ESRP2	ubiquitination

Disease & clinical

Clinical variants and AI predictions

ClinVar

145 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	2
Uncertain significance	115
Likely benign	12
Benign	7

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
834037	NM_024939.3(ESRP2):c.944G>A (p.Arg315His)	Likely pathogenic
834038	NM_024939.3(ESRP2):c.1558C>T (p.Arg520Ter)	Likely pathogenic

SpliceAI

2663 predictions. Top by Δscore:

Variant	Effect	Δscore
16:68230555:C:CC	acceptor_gain	1.0000
16:68231177:CAGGG:C	donor_gain	1.0000
16:68231246:ATCT:A	donor_gain	1.0000
16:68231247:T:C	donor_gain	1.0000
16:68231477:TTCAC:T	donor_loss	1.0000
16:68231481:CCTG:C	donor_gain	1.0000
16:68231692:GACC:G	acceptor_loss	1.0000
16:68231693:ACCT:A	acceptor_loss	1.0000
16:68231694:CCT:C	acceptor_loss	1.0000
16:68232387:C:CA	donor_gain	1.0000
16:68232499:CACCC:C	acceptor_gain	1.0000
16:68232501:CCC:C	acceptor_gain	1.0000
16:68232502:CCC:C	acceptor_gain	1.0000
16:68232502:CCCTG:C	acceptor_loss	1.0000
16:68232504:C:CC	acceptor_gain	1.0000
16:68232572:CCCA:C	donor_loss	1.0000
16:68232573:CCAC:C	donor_loss	1.0000
16:68232574:CACC:C	donor_loss	1.0000
16:68232575:A:AT	donor_loss	1.0000
16:68232613:T:TA	donor_gain	1.0000
16:68232683:TGCTG:T	acceptor_gain	1.0000
16:68232685:CTG:C	acceptor_gain	1.0000
16:68232686:TG:T	acceptor_gain	1.0000
16:68232688:C:CC	acceptor_gain	1.0000
16:68233289:C:A	donor_gain	1.0000
16:68233325:A:AC	donor_gain	1.0000
16:68233326:C:CC	donor_gain	1.0000
16:68233326:CTG:C	donor_gain	1.0000
16:68233766:AC:A	donor_gain	1.0000
16:68233767:CC:C	donor_gain	1.0000

AlphaMissense

4562 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
16:68231351:A:T	I523N	1.000
16:68231358:C:G	A521P	1.000
16:68231363:C:T	G519D	1.000
16:68231588:A:G	L479P	1.000
16:68231829:G:C	F434L	1.000
16:68231829:G:T	F434L	1.000
16:68231831:A:G	F434L	1.000
16:68231913:G:C	F406L	1.000
16:68231913:G:T	F406L	1.000
16:68231914:A:G	F406S	1.000
16:68231915:A:G	F406L	1.000
16:68231918:C:G	A405P	1.000
16:68231923:C:A	G403V	1.000
16:68231923:C:T	G403D	1.000
16:68232263:A:G	F337S	1.000
16:68232375:A:T	I327N	1.000
16:68232450:A:G	L302P	1.000
16:68232459:C:A	G299V	1.000
16:68232459:C:T	G299D	1.000
16:68232460:C:A	G299C	1.000
16:68232460:C:G	G299R	1.000
16:68232632:A:G	W266R	1.000
16:68232632:A:T	W266R	1.000
16:68232637:A:G	L264S	1.000
16:68232640:C:T	G263E	1.000
16:68232641:C:G	G263R	1.000
16:68232641:C:T	G263R	1.000
16:68232646:G:T	A261D	1.000
16:68231353:G:C	F522L	0.999
16:68231353:G:T	F522L	0.999

dbSNP variants (sampled 300 via entrez): RS1000446676 (16:68230144 G>A,C,T), RS1000492569 (16:68236881 G>T), RS1000934696 (16:68230611 C>G), RS1000949812 (16:68236993 C>T), RS1001123353 (16:68236675 C>T), RS1002249707 (16:68236295 T>C), RS1002370272 (16:68229888 G>A), RS1002475580 (16:68234642 G>A,C), RS1002539352 (16:68235315 A>G), RS1002591555 (16:68235041 C>G,T), RS1002896533 (16:68230249 G>A), RS1003109213 (16:68233592 C>T), RS1004049175 (16:68234239 A>C,G), RS1004186929 (16:68237489 C>T), RS1004617572 (16:68236212 C>A,T)

Disease associations

OMIM: gene MIM:612960 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
orofacial cleft	Moderate	Autosomal dominant

Mondo (1): orofacial cleft (MONDO:0000358)

Orphanet (1): Cleft lip with or without cleft palate (Orphanet:1991)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST002539_84	Schizophrenia	2.000000e-08
GCST006803_42	Schizophrenia	4.000000e-08
GCST010002_113	Refractive error	2.000000e-14

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

39 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression	6
trichostatin A	affects cotreatment, increases expression	3
mercuric bromide	increases expression, affects cotreatment	2
entinostat	increases expression, affects cotreatment	2
Panobinostat	affects cotreatment, increases expression	2
Benzo(a)pyrene	decreases expression, decreases methylation	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Smoke	decreases expression	2
aristolochic acid I	decreases expression	1
fluorene-9-bisphenol	decreases expression	1
dicrotophos	increases expression	1
ethyl-p-hydroxybenzoate	increases expression	1
hydroxyhydroquinone	decreases expression	1
beta-lapachone	decreases expression, increases expression	1
sodium arsenite	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
jinfukang	increases expression, affects cotreatment	1
NSC 689534	decreases expression, affects binding	1
Acetaminophen	decreases expression	1
Cisplatin	increases expression, affects cotreatment	1
Copper	affects binding, decreases expression	1
Dimethyl Sulfoxide	increases expression	1
Estradiol	affects cotreatment, decreases expression	1
Hydrogen Peroxide	increases expression	1
Ribonucleotides	affects binding	1
Selenium	affects cotreatment, increases expression	1
Thiram	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B1RK	Abcam HeLa ESRP2 KO	Cancer cell line	Female
CVCL_D9WF	Ubigene HT-29 ESRP2 KO	Cancer cell line	Female

Clinical trials (associated diseases)

5 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT04342234	Not specified	RECRUITING	Neural Network to Calculate Morphology of the Cleft Palate to Reduce Cleft Lip and Palate Treatment Burden.
NCT05867862	Not specified	COMPLETED	Implementation of a Program to Strengthen Oral Hygiene in Patient With Cleft Deformities
NCT06880094	Not specified	RECRUITING	Study of Congenital Orofacial Clefts by Implementing Optical Genome Mapping
NCT07340008	Not specified	RECRUITING	Analgosedation With Ketamine, Nalbuphine, or Dexmedetomidine for Suture Removal in Children After Cleft Surgery
NCT07557576	Not specified	RECRUITING	Effect of Opioid-Free vs Opioid-Based Anesthesia on Postoperative Pain and Emergence Agitation in Children Undergoing Cleft Surgery