CELF2

Summary

CELF2 (CUGBP Elav-like family member 2, HGNC:2550) is a protein-coding gene on chromosome 10p14, encoding CUGBP Elav-like family member 2 (O95319). RNA-binding protein implicated in the regulation of several post-transcriptional events.

Members of the CELF/BRUNOL protein family contain two N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM domain, and a divergent segment of 160-230 aa between the second and third RRM domains. Members of this protein family regulate pre-mRNA alternative splicing and may also be involved in mRNA editing, and translation. Alternative splicing results in multiple transcript variants encoding different isoforms.

Source: NCBI Gene 10659 — RefSeq curated summary.

At a glance

• Gene–disease (curated): developmental and epileptic encephalopathy 97 (Strong, GenCC) — +2 more curated relationships
• GWAS associations: 32 (top 4% of genes corpus-wide)
• Clinical variants (ClinVar): 144 total — 10 pathogenic, 8 likely-pathogenic
• Regional missense constraint (gnomAD): 1 of 3 regions constrained (≈19% of expected missense variation)
• GTEx eGene: eQTL in 14 tissues, sQTL in 5 (q < 0.05)
• Phenotypes (HPO): 62
• Constraint (gnomAD): pLI 1.00 (loss-of-function intolerant), LOEUF 0.29 (highly constrained)
• MANE Select transcript: NM_001326342

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:2550
Approved symbol	CELF2
Name	CUGBP Elav-like family member 2
Location	10p14
Locus type	gene with protein product
Status	Approved
Aliases	Etr-3, NAPOR-2, BRUNOL3
Ensembl gene	ENSG00000048740
Ensembl biotype	protein_coding
OMIM	602538
Entrez	10659

Gene structure

Transcript identifiers

Ensembl transcripts: 27 — 24 protein_coding, 3 nonsense_mediated_decay

MANE Select: ENST00000633077

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 6, TSL 2: 3, TSL 5: 8

ENST00000633077, ENST00000354897, ENST00000399850, ENST00000416382, ENST00000417956, ENST00000542579, ENST00000608830, ENST00000609692, ENST00000609870, ENST00000631460, ENST00000631816, ENST00000632065, ENST00000632728, ENST00000633200, ENST00000636488, ENST00000637215, ENST00000638035, ENST00000904654, ENST00000904655, ENST00000978918, ENST00000978919, ENST00001015164, ENST00001015165, ENST00001119149, ENST00001123441, ENST00001123442, ENST00001123443

RefSeq mRNA: 41 — MANE Select: NM_001326342 NM_001025076, NM_001025077, NM_001083591, NM_001326317, NM_001326318, NM_001326319, NM_001326320, NM_001326321, NM_001326323, NM_001326324, NM_001326325, NM_001326326, NM_001326327, NM_001326328, NM_001326329, NM_001326330, NM_001326331, NM_001326332, NM_001326333, NM_001326334, NM_001326335, NM_001326336, NM_001326337, NM_001326338, NM_001326339, NM_001326340, NM_001326341, NM_001326342, NM_001326343, NM_001326344, NM_001326345, NM_001326346, NM_001326347, NM_001326348, NM_001326349, NM_001394502, NM_001394513, NM_001394517, NM_001394518, NM_001394519, NM_006561

CCDS: CCDS41488, CCDS44354, CCDS44355, CCDS44356, CCDS86069, CCDS86070, CCDS86071, CCDS86072

Canonical transcript exons

ENST00000633077 — 13 exons

Exon	Start	End
ENSE00000915134	11217425	11217507
ENSE00001605469	11314139	11314258
ENSE00001628998	11321189	11321386
ENSE00001649912	11275057	11275120
ENSE00001667240	11288418	11288552
ENSE00001677747	11266598	11266677
ENSE00001754622	11270666	11270824
ENSE00001772482	11257738	11257872
ENSE00001779816	11249153	11249201
ENSE00001794829	11325836	11325979
ENSE00003633961	11165486	11165682
ENSE00003776970	11017872	11018163
ENSE00003777692	11328926	11336675

Expression profiles

Bgee: expression breadth ubiquitous, 289 present calls, max score 99.28.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 75.9814 / max 2360.2953, expressed in 1516 samples.

Highest expression (Bgee): CA1 field of hippocampus, orbitofrontal cortex, entorhinal cortex, trabecular bone tissue, middle temporal gyrus.

Genetic regulation across tissues (GTEx eQTL / sQTL)

CELF2 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 14 tissues and its splicing (sQTL) in 5 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

19 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Cells Cultured fibroblasts	eqtl	7.7e-15	+0.19	10:10837181:A:G
Muscle Skeletal	eqtl	2.2e-07	-0.15	10:10895275:G:A
Artery Tibial	eqtl	1.0e-06	+0.13	10:10798886:A:C
Artery Aorta	eqtl	5.6e-06	+0.17	10:10798199:A:T
Whole Blood	sqtl	1.3e-05	-0.22	10:11276850:T:C
Adipose Subcutaneous	eqtl	3.8e-05	+0.09	10:11093252:AGTTTGGT:A
Lung	eqtl	6.7e-05	+0.12	10:10823740:A:G
Nerve Tibial	eqtl	5.1e-04	-0.09	10:11049893:G:C
Adipose Visceral Omentum	eqtl	8.7e-04	+0.10	10:10799741:G:T
Cells EBV-transformed lymphocytes	eqtl	1.1e-03	-0.23	10:11250836:T:C
Brain Cerebellar Hemisphere	eqtl	3.7e-03	-0.20	10:11043112:T:C
Artery Aorta	sqtl	6.5e-03	+0.41	10:10798572:G:A
Breast Mammary Tissue	eqtl	8.3e-03	+0.09	10:11792352:G:A
Artery Tibial	sqtl	9.9e-03	-0.33	10:10798572:G:A
Cells Cultured fibroblasts	sqtl	2.6e-02	+0.59	10:11696038:C:G
Colon Transverse	eqtl	2.9e-02	+0.09	10:11156185:G:A
Skin Sun Exposed Lower leg	eqtl	3.1e-02	+0.05	10:11046340:A:G
Pancreas	eqtl	3.1e-02	+0.44	10:10913177:A:T
Cells EBV-transformed lymphocytes	sqtl	3.6e-02	+0.36	10:11278629:A:G

FANTOM5 promoters

showing 10 of 39 alternative TSS:

Promoter ID	TPM avg	Samples expressed
103865	33.4832	691
103857	13.6412	1191
103846	5.5064	985
103840	4.5271	233
103849	3.0211	824
103862	1.6712	414
103864	1.6266	359
103854	1.5323	346
103863	1.1176	279
103826	1.0700	70

Top tissues by expression

showing 100 of 294 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
CA1 field of hippocampus	UBERON:0003881	99.28	gold quality
orbitofrontal cortex	UBERON:0004167	99.26	gold quality
entorhinal cortex	UBERON:0002728	99.20	gold quality
trabecular bone tissue	UBERON:0002483	99.17	gold quality
middle temporal gyrus	UBERON:0002771	99.12	gold quality
postcentral gyrus	UBERON:0002581	99.11	gold quality
parietal lobe	UBERON:0001872	99.00	gold quality
Brodmann (1909) area 46	UBERON:0006483	98.95	gold quality
lateral nuclear group of thalamus	UBERON:0002736	98.84	gold quality
Brodmann (1909) area 23	UBERON:0013554	98.83	gold quality
cortical plate	UBERON:0005343	98.70	gold quality
germinal epithelium of ovary	UBERON:0001304	98.60	gold quality
heart right ventricle	UBERON:0002080	98.57	gold quality
superficial temporal artery	UBERON:0001614	98.42	gold quality
skin of hip	UBERON:0001554	98.41	gold quality
adult organism	UBERON:0007023	98.33	gold quality
synovial joint	UBERON:0002217	98.32	gold quality
lower lobe of lung	UBERON:0008949	98.32	gold quality
superior frontal gyrus	UBERON:0002661	98.31	gold quality
endothelial cell	CL:0000115	98.30	gold quality
olfactory bulb	UBERON:0002264	98.19	gold quality
nipple	UBERON:0002030	98.10	gold quality
pigmented layer of retina	UBERON:0001782	98.09	gold quality
parietal pleura	UBERON:0002400	97.97	gold quality
trigeminal ganglion	UBERON:0001675	97.84	gold quality
blood	UBERON:0000178	97.73	gold quality
pleura	UBERON:0000977	97.48	gold quality
visceral pleura	UBERON:0002401	97.47	gold quality
secondary oocyte	CL:0000655	97.44	gold quality
ventral tegmental area	UBERON:0002691	97.28	gold quality
dorsal motor nucleus of vagus nerve	UBERON:0002870	97.20	gold quality
vena cava	UBERON:0004087	97.12	gold quality
urethra	UBERON:0000057	97.03	gold quality
bone marrow	UBERON:0002371	96.89	gold quality
mammalian vulva	UBERON:0000997	96.77	gold quality
upper leg skin	UBERON:0004262	96.74	gold quality
pylorus	UBERON:0001166	96.54	gold quality
ganglionic eminence	UBERON:0004023	96.53	gold quality
saphenous vein	UBERON:0007318	96.48	gold quality
lateral globus pallidus	UBERON:0002476	96.43	gold quality
dorsal root ganglion	UBERON:0000044	96.39	gold quality
occipital lobe	UBERON:0002021	96.38	gold quality
cauda epididymis	UBERON:0004360	96.31	gold quality
pericardium	UBERON:0002407	96.05	gold quality
pons	UBERON:0000988	95.92	gold quality
medulla oblongata	UBERON:0001896	95.91	gold quality
blood vessel layer	UBERON:0004797	95.78	gold quality
dorsal plus ventral thalamus	UBERON:0001897	95.76	gold quality
primary visual cortex	UBERON:0002436	95.57	gold quality
superior vestibular nucleus	UBERON:0007227	95.54	gold quality
mammary duct	UBERON:0001765	95.52	gold quality
bone marrow cell	CL:0002092	95.44	gold quality
ventricular zone	UBERON:0003053	95.26	gold quality
decidua	UBERON:0002450	95.23	gold quality
substantia nigra pars compacta	UBERON:0001965	95.22	gold quality
epithelium of mammary gland	UBERON:0003244	94.96	gold quality
leukocyte	CL:0000738	94.95	gold quality
mononuclear cell	CL:0000842	94.91	gold quality
thymus	UBERON:0002370	94.85	gold quality
cranial nerve II	UBERON:0000941	94.80	gold quality
monocyte	CL:0000576	94.79	gold quality
subthalamic nucleus	UBERON:0001906	94.66	gold quality
mucosa of sigmoid colon	UBERON:0004993	94.61	gold quality
penis	UBERON:0000989	94.60	gold quality
myocardium	UBERON:0002349	94.45	gold quality
caecum	UBERON:0001153	94.44	gold quality
epithelium of nasopharynx	UBERON:0001951	94.13	gold quality
substantia nigra pars reticulata	UBERON:0001966	94.00	gold quality
thoracic mammary gland	UBERON:0005200	93.93	gold quality
mammary gland	UBERON:0001911	93.91	gold quality
lymph node	UBERON:0000029	93.86	gold quality
vermiform appendix	UBERON:0001154	93.81	gold quality
granulocyte	CL:0000094	93.74	gold quality
colonic mucosa	UBERON:0000317	93.71	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	93.69	gold quality
inferior vagus X ganglion	UBERON:0005363	93.57	gold quality
inferior olivary complex	UBERON:0002127	93.51	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	93.51	gold quality
cardia of stomach	UBERON:0001162	93.45	gold quality
sural nerve	UBERON:0015488	93.31	gold quality
oral cavity	UBERON:0000167	93.20	gold quality
temporal lobe	UBERON:0001871	93.20	gold quality
biceps brachii	UBERON:0001507	93.06	gold quality
cerebral cortex	UBERON:0000956	93.01	gold quality
jejunum	UBERON:0002115	93.00	gold quality
caput epididymis	UBERON:0004358	92.95	gold quality
frontal cortex	UBERON:0001870	92.92	gold quality
lung	UBERON:0002048	92.88	gold quality
cardiac muscle of right atrium	UBERON:0003379	92.82	gold quality
mucosa of paranasal sinus	UBERON:0005030	92.67	gold quality
Brodmann (1909) area 9	UBERON:0013540	92.61	gold quality
prefrontal cortex	UBERON:0000451	92.55	gold quality
ileal mucosa	UBERON:0000331	92.53	gold quality
adipose tissue	UBERON:0001013	92.49	gold quality
telencephalon	UBERON:0001893	92.49	gold quality
neocortex	UBERON:0001950	92.45	gold quality
Ammon’s horn	UBERON:0001954	92.43	gold quality
embryo	UBERON:0000922	92.35	gold quality
globus pallidus	UBERON:0001875	92.27	gold quality
nucleus accumbens	UBERON:0001882	92.27	gold quality

Single-cell (SCXA)

Detected in 14 experiment(s), a significant marker in 10.

Experiment	Marker?	Max mean expression
E-GEOD-131882	yes	5509.93
E-CURD-119	yes	5019.96
E-HCAD-35	yes	2711.32
E-HCAD-25	yes	2483.89
E-HCAD-5	yes	48.78
E-CURD-46	yes	38.06
E-MTAB-10287	yes	29.59
E-CURD-122	yes	21.56
E-ANND-3	yes	19.91
E-HCAD-10	yes	9.42
E-HCAD-30	no	2966.78
E-MTAB-6075	no	819.00
E-HCAD-6	no	29.19
E-MTAB-5061	no	3.80

HPA expression

RNA tissue specificity: Tissue enhanced

showing 60 of 76 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM	Protein (IHC)
Olfactory bulb	tissue	221.7
Prefrontal cortex	tissue	196.7
Cerebral cortex	tissue	196.7	high
Occipital cortex	tissue	194.0
Motor cortex	tissue	192.9
Somatosensory cortex	tissue	188.8
Hippocampal formation	tissue	185.7
Entorhinal cortex	tissue	185.7
Insular cortex	tissue	185.6
Temporal cortex	tissue	184.3
Retrosplenial and cingulate cortex	tissue	177.7
Retrosplenial cortex	tissue	172.0
Putamen	tissue	162.0
Basal ganglia	tissue	157.5	high
Amygdala	tissue	146.1
Hippocampus	tissue	138.3	high
Postcentral gyrus	tissue	131.8
Ventral forebrain	tissue	131.5
Caudate putamen	tissue	129.6
Frontal cortex	tissue	115.5
Nucleus accumbens	tissue	108.5
Septum	tissue	106.6
Thalamus	tissue	82.4
Cerebellum	tissue	80.0	high
Midbrain	tissue	76.1
Bone marrow	tissue	73.5	high
Superior colliculi	tissue	65.2
Pons	tissue	63.4
Hypothalamus	tissue	57.2
Thymus	tissue	56.5
Locus coeruleus	tissue	48.7
Spinal cord	tissue	45.8
Choroid plexus	tissue	44.8
Substantia nigra	tissue	43.8
Medulla oblongata	tissue	43.6
Periaqueductal gray	tissue	42.4
Lymph node	tissue	38.7	medium
Corpus callosum	tissue	38.0
Adipose tissue	tissue	37.0	not detected
Heart muscle	tissue	35.1	not detected
Ovary	tissue	34.4	low
Retina	tissue	32.8
Appendix	tissue	29.0	high
Spleen	tissue	28.4	medium
Tonsil	tissue	27.6	medium
Lung	tissue	26.5	high
Smooth muscle	tissue	21.7	not detected
Esophagus	tissue	20.1	not detected
Rectum	tissue	16.8	medium
Gallbladder	tissue	16.1	not detected
Urinary bladder	tissue	15.2	not detected
Colon	tissue	14.5	medium
Endometrium 1	tissue	14.0	not detected
Tongue	tissue	14.0
Cervix	tissue	13.4	not detected
Prostate	tissue	13.2	not detected
Breast	tissue	13.1	not detected
Small intestine	tissue	12.7	medium
Fallopian tube	tissue	12.5	medium
Seminal vesicle	tissue	11.5	not detected

Brain sub-regions (HPA Brain Atlas): detected in 189; highest nTPM — Subiculum (172.8), Dorsal hippocampus (161.1), Ventral hippocampus (160.2), Hippocampus, CA1 (159.3), Perirhinal gyrus (158.3).

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): IRX1

miRNA regulators (miRDB)

Targeting CELF2 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

showing 30 of 233 miRNAs:

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-3925-3P	100.00	69.95	1237
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-4510	100.00	66.60	2050
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-574-5P	100.00	66.01	989
HSA-MIR-513A-5P	100.00	69.77	2465
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-548P	99.98	72.25	3784

Functional genomics

gnomAD constraint: pLI 1, LOEUF 0.294, missense Z 4.15 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD)

ENST00000633077 splits into 3 regions with different missense tolerance; 1 is missense-constrained (≈19% of the expected missense variation). Missense variants in a constrained region (low observed/expected) are more likely to be pathogenic. gnomAD

Region (GRCh38)	Missense obs / exp	o/e	Constrained
10:11,018,090–11,165,503	45 / 39.8	1.13	no
10:11,165,504–11,321,345	253 / 503.0	0.50	no
10:11,321,346–11,329,050	35 / 128.1	0.27	yes (p 1.9e-16)

Literature-anchored findings (GeneRIF, showing 37)

• BRUNOL3 appears to be an important factor for thymus development and is therefore a candidate gene for the thymus hypoplasia/aplasia seen in partial monosomy 10p patients. (PMID:12110949)
• Determination of ETR-3 protein domains required for RNA splicing. (PMID:14973222)
• data suggest that CUGBP2 is a critical regulator of the apoptotic response to genotoxic injury in breast cancer cells (PMID:15033780)
• Developmental upregulation of apoB mRNA editing from approximately 3% to 88% begins with decreased levels of inhibitory CUG binding protein 2 (CUGBP2) expression. (PMID:16920700)
• CUGBP2 overrides HuR and suppresses COX-2 mRNA translation. (PMID:17383427)
• Data demonstrate that cells expressing CUGBP2 variant 1 undergo apoptosis during mitosis, suggesting mitotic catastrophe. (PMID:18258790)
• Demonstrate that CUGBP2 inhibits Mcl-1 expression by inhibiting Mcl-1 mRNA translation, resulting in driving the cells to apoptosis during the G(2) phase of the cell cycle. (PMID:18292181)
• There was evidence of association for recently-reported late-onset Alzheimer’s disease risk loci, including BIN1 and CLU and CUGBP2 with APOE. (PMID:21379329)
• results indicate the occurrence of a mis-splicing event in myotonic dystrophy type 1 that is induced neither by a loss of muscleblind-like 1 (MBNL1) function nor by a gain of CUGBP1 (PMID:21439371)
• Alternative splicing of LEF1 exon 6 is regulated during pre-TCR signaling in thymic development and in response to activation of the JSL1 T-cell line and this is driven by the activity of CELF2. (PMID:21444716)
• The A allele of rs2242451 in CUGBP2 might decrease Alzheimer disease risk in the Chinese Han population. (PMID:25801238)
• novel mechanisms for CELF2 regulation that may broadly impact CELF2 expression across diverse cell types. (PMID:25870297)
• Data show miR95 expression level positively related to glioma grade and its downregulation affects proliferation, invasion and apoptosis by targeting CELF2. MiR95 is identified as a putative therapeutic target and CELF2 as a potential tumor suppressor. (PMID:26165303)
• the genetic variant rs3740194 in CELF2 gene might be a valuable predictor for NPC prognosis (PMID:26314850)
• a widespread role for the JNK-CELF2 axis in controlling splicing during T-cell activation, including a specific role in propagating JNK signaling. (PMID:26443849)
• CUGBP2 expression at the messenger RNA (mRNA) level was 2.2-fold lower and could be associated with high chemoresistance and early dissemination of pancreatic cancer. (PMID:26691217)
• Study provides evidence for a generalized position- dependent activity of CELF2 in splicing that can be used to predict its consequence on alternative splicing in a cell-type independent manner. (PMID:27096301)
• Haplotype-dependent allele-specific methylation of CELF2 gene is associated with neurological disorders. (PMID:27153397)
• These data suggest an interplay between CELF2 and hnRNP C as the mechanistic basis for activation-dependent alternative splicing of TRAF3 exon 8. (PMID:28031331)
• CUG-BP2 binds to AU-rich motifs found in the COX-2 mRNA 3’-UTR. (PMID:28935965)
• Overexpression of CELF2 could reverse miR-615-3p’s oncogenic functions. (PMID:29501762)
• These studies elucidate an unrecognized role for CELF2 in inducing autophagy and potentiating the effects of radiotherapy in colorectal cancer. (PMID:31020708)
• CELF2 suppresses non-small cell lung carcinoma growth by inhibiting the PREX2-PTEN interaction. (PMID:31241130)
• CELF2 hypermethylation is associated with breast cancer. (PMID:31409895)
• RNA Binding Protein CELF2 Regulates Signal-Induced Alternative Polyadenylation by Competing with Enhancers of the Polyadenylation Machinery. (PMID:31509743)
• STYXL1 promotes malignant progression of hepatocellular carcinoma via downregulating CELF2 through the PI3K/Akt pathway. (PMID:32271415)
• De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy. (PMID:33131106)
• LncRNA-SNHG16 promotes proliferation and migration of acute myeloid leukemia cells via PTEN/PI3K/AKT axis through suppressing CELF2 protein. (PMID:33576342)
• Genome-wide association analysis of cognitive function in Danish long-lived individuals. (PMID:33607172)
• LncRNA RHPN1-AS1 promotes the progression of nasopharyngeal carcinoma by targeting CELF2 expression. (PMID:34358519)
• miR-363-3p induces EMT via the Wnt/beta-catenin pathway in glioma cells by targeting CELF2. (PMID:34636136)
• MiR-210-3p targets CELF2 to facilitate progression of lung squamous carcinoma through PI3K/AKT pathway. (PMID:35972577)
• CircLIFR Inhibits Non-small Cell Lung Cancer Progression by Acting as a miR-429 Sponge to Enhance CELF2 Expression. (PMID:36104590)
• Natural Antisense Long Noncoding RNA HHIP-AS1 Suppresses Non-Small-Cell Lung Cancer Progression by Increasing HHIP Stability via Interaction with CELF2. (PMID:36374812)
• Hypoxia-induced lncRNA MRVI1-AS1 accelerates hepatocellular carcinoma progression by recruiting RNA-binding protein CELF2 to stabilize SKA1 mRNA. (PMID:36973749)
• Role of CELF2 in ferroptosis: Potential targets for cancer therapy (Review). (PMID:37594127)
• miR-208a-3p regulated by circUQCRC2 suppresses ischemia/reperfusion-induced acute kidney injury by inhibiting CELF2-mediated tubular epithelial cell apoptosis, inflammation and ferroptosis. (PMID:38664873)

Cross-species orthologs

9 orthologs

Organism	Symbol	Gene ID
danio_rerio		ENSDARG00000114049
mus_musculus	Celf2	ENSMUSG00000002107
rattus_norvegicus	Celf2	ENSRNOG00000023661
drosophila_melanogaster	bru1	FBGN0000114
drosophila_melanogaster	Pof	FBGN0035047
drosophila_melanogaster	bru2	FBGN0262475
caenorhabditis_elegans		WBGENE00017135
caenorhabditis_elegans		WBGENE00017140
caenorhabditis_elegans		WBGENE00020354

Paralogs (6): CELF4 (ENSG00000101489), RBM28 (ENSG00000106344), CELF6 (ENSG00000140488), CELF1 (ENSG00000149187), CELF3 (ENSG00000159409), CELF5 (ENSG00000161082)

Mouse-model phenotypes

Observed phenotypes of the mouse ortholog (MGI:1338822) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 6 distinct phenotype terms.

Mouse phenotype (MP)	Records
decreased body size	1
abnormal axon extension	1
abnormal neuron physiology	1
postnatal lethality, complete penetrance	1
neonatal lethality, incomplete penetrance	1
preweaning lethality, incomplete penetrance	1

Additional cross-species homologs

Sequence homologs in species beyond Ensembl Compara’s model organisms, by Diamond local protein alignment (% sequence identity; best hit per species). Lower-identity rows are more distant homologs. The matched accessions’ gene symbols aren’t in biobtree yet, so each row shows the UniProt accession.

Organism	UniProt	Identity	Method
Drosophila virilis	P23241	100.0%	Diamond
Pongo abelii	Q5NVC8	100.0%	Diamond
Xenopus tropicalis	A4QNI8	99.8%	Diamond
Xenopus laevis	Q7SZT7	99.8%	Diamond
Gallus gallus	Q7T2T1	99.8%	Diamond
Drosophila erecta	B3NGA1	99.5%	Diamond
Drosophila yakuba	B4PIS2	99.5%	Diamond
Oryza sativa Indica Group	B8BCZ8	99.5%	Diamond
Oryza sativa Japonica Group	Q6K271	99.5%	Diamond
Sus scrofa	Q06AT9	98.9%	Diamond
Oryctolagus cuniculus	Q9BDY9	98.9%	Diamond
Drosophila sechellia	B4HUE4	98.6%	Diamond
Drosophila simulans	B4QRJ0	98.6%	Diamond
Bos taurus	Q08E07	98.3%	Diamond
Drosophila grimshawi	B4IX08	97.6%	Diamond
Macaca fascicularis	Q4R535	97.5%	Diamond
Drosophila mojavensis	B4KX02	96.3%	Diamond
Drosophila ananassae	B3M3R5	92.1%	Diamond
Drosophila willistoni	B4MM23	90.1%	Diamond
Arabidopsis thaliana	Q8LFS6	71.2%	Diamond
Plasmodium falciparum	P13824	65.7%	Diamond
Schizosaccharomyces pombe 972h-	Q9P3U1	48.4%	Diamond
Mycosarcoma maydis	Q4PC17	45.8%	Diamond

Genomic neighbors (locus context)

Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).

Symbol	Type	Entrez
CELF2-AS1	ncRNA	414196
USP6NL	protein-coding	9712
USP6NL-AS1	ncRNA	107984208
CELF2-DT	ncRNA	101928322
CELF2-AS4	ncRNA	124902376
CELF2-AS2	ncRNA	439950
LINC00710	ncRNA	254312
ECHDC3	protein-coding	79746

Protein

Protein identifiers

CUGBP Elav-like family member 2 — O95319 (reviewed: O95319)

Alternative names: Bruno-like protein 3, CUG triplet repeat RNA-binding protein 2, CUG-BP- and ETR-3-like factor 2, ELAV-type RNA-binding protein 3, Neuroblastoma apoptosis-related RNA-binding protein, RNA-binding protein BRUNOL-3

All UniProt accessions (10): A0A0J9YX66, A0A0J9YXJ0, A0A0J9YXK1, A0A1B0GU44, A0A1B0GUN8, E9PC62, O95319, Q5VZZ6, V9GY47, V9GYD9

UniProt curated annotations — full annotation on UniProt →

Function. RNA-binding protein implicated in the regulation of several post-transcriptional events. Involved in pre-mRNA alternative splicing, mRNA translation and stability. Mediates exon inclusion and/or exclusion in pre-mRNA that are subject to tissue-specific and developmentally regulated alternative splicing. Specifically activates exon 5 inclusion of TNNT2 in embryonic, but not adult, skeletal muscle. Activates TNNT2 exon 5 inclusion by antagonizing the repressive effect of PTB. Acts both as an activator and as a repressor of a pair of coregulated exons: promotes inclusion of the smooth muscle (SM) exon but exclusion of the non-muscle (NM) exon in actinin pre-mRNAs. Promotes inclusion of exon 21 and exclusion of exon 5 of the NMDA receptor R1 pre-mRNA. Involved in the apoB RNA editing activity. Increases COX2 mRNA stability and inhibits COX2 mRNA translation in epithelial cells after radiation injury. Binds to the muscle-specific splicing enhancer (MSE) intronic sites flanking the TNNT2 alternative exon 5. Binds preferentially to UG-rich sequences, in particular UG repeat and UGUU motifs. Binds to apoB mRNA, specifically to AU-rich sequences located immediately upstream of the edited cytidine. Binds AU-rich sequences in the 3’-UTR of COX2 mRNA. Binds to an intronic RNA element responsible for the silencing of exon 21 splicing. Binds to (CUG)n repeats. May be a specific regulator of miRNA biogenesis. Binds to primary microRNA pri-MIR140 and, with CELF1, negatively regulates the processing to mature miRNA.

Subunit / interactions. Interacts with A1CF.

Subcellular location. Nucleus. Cytoplasm.

Tissue specificity. Expressed in frontal cortex. Isoform 1 is expressed in brain and lung. Isoform 2 is expressed in heart, brain, placenta, lung, liver, kidney, skeletal muscle and pancreas. Isoform 4 is expressed in heart, lung, skeletal muscle, kidney and pancreas.

Disease relevance. Developmental and epileptic encephalopathy 97 (DEE97) [MIM:619561] A form of epileptic encephalopathy, a heterogeneous group of early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE97 is an autosomal dominant form. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the CELF/BRUNOL family.

Isoforms (5)

UniProt ID	Names	Canonical?
O95319-1	1, NAPOR-3	yes
O95319-2	2, NAPOR-1
O95319-3	3
O95319-4	4, NAPOR-2
O95319-5	5

RefSeq proteins (41): NP_001020247, NP_001020248, NP_001077060, NP_001313246, NP_001313247, NP_001313248, NP_001313249, NP_001313250, NP_001313252, NP_001313253, NP_001313254, NP_001313255, NP_001313256, NP_001313257, NP_001313258, NP_001313259, NP_001313260, NP_001313261, NP_001313262, NP_001313263, NP_001313264, NP_001313265, NP_001313266, NP_001313267, NP_001313268, NP_001313269, NP_001313270, NP_001313271, NP_001313272, NP_001313273, NP_001313274, NP_001313275, NP_001313276, NP_001313277, NP_001313278, NP_001381431, NP_001381442, NP_001381446, NP_001381447, NP_001381448, NP_006552 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000504	RRM_dom	Domain
IPR002343	Hud_Sxl_RNA	Family
IPR012677	Nucleotide-bd_a/b_plait_sf	Homologous_superfamily
IPR034196	CELF1/2_RRM1	Domain
IPR034198	CELF1/2_RRM2	Domain
IPR034199	CELF1/2_RRM3	Domain
IPR035979	RBD_domain_sf	Homologous_superfamily

Pfam: PF00076

UniProt features (42 total): strand 15, helix 11, splice variant 5, domain 3, sequence variant 3, turn 2, region of interest 2, chain 1

Structure

Experimental structures (PDB)

7 structures by resolution:

PDB	Title	Method	Resolution (Å)
9URH	Structural insight into DNA recognition by RRM1+2 domain of human ETR-3 protein	X-RAY DIFFRACTION	1.82
4TLQ	Crystal structure of C-terminal RNA recognition motif of human ELAV type RNA binding …	X-RAY DIFFRACTION	2.5
4LMZ	Structural insight into RNA recognition by RRM1+2 domain of human ETR-3 protein	X-RAY DIFFRACTION	2.78
4LJM	Crystal structure of C-terminal RNA recognition motif of human ETR3	X-RAY DIFFRACTION	3
2MY7	NMR Structure of unfolding intermediate state of RRM-3 domain of ETR-3	SOLUTION NMR
2MY8	NMR Structure of RRM-3 domain of ETR-3	SOLUTION NMR
5M8I	Solution structure of CUG-BP2 RRM3 in complex with 5’-UUUAA-3’ RNA	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O95319-F1	66.26	0.17

Human Protein Atlas

Protein class: Predicted intracellular proteins, Disease related genes, Human disease related genes, Epilepsy

Protein evidence: Evidence at protein level

Subcellular location (HPA, imaging): nucleoplasm; midbody ring; vesicles

Antibody reliability (HPA): IH enhanced · IF supported

Function

Pathways and Gene Ontology

Reactome pathways

0 curated (TAS) of 0; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

MSigDB gene sets: 503 (showing top): WAMUNYOKOLI_OVARIAN_CANCER_LMP_DN, YAATNRNNNYNATT_UNKNOWN, TAATAAT_MIR126, WALLACE_PROSTATE_CANCER_RACE_UP, GOBP_CIRCULATORY_SYSTEM_PROCESS, MODULE_255, TGCACTT_MIR519C_MIR519B_MIR519A, PEREZ_TP63_TARGETS, TTTGTAG_MIR520D, GOBP_ALTERNATIVE_MRNA_SPLICING_VIA_SPLICEOSOME, MODULE_45, KENNY_CTNNB1_TARGETS_UP, MODULE_317, THEILGAARD_NEUTROPHIL_AT_SKIN_WOUND_DN, MODULE_16

GO Biological Process (6): regulation of alternative mRNA splicing, via spliceosome (GO:0000381), mRNA splice site recognition (GO:0006376), RNA processing (GO:0006396), regulation of heart contraction (GO:0008016), mRNA processing (GO:0006397), mRNA metabolic process (GO:0016071)

GO Molecular Function (4): RNA binding (GO:0003723), mRNA 3’-UTR binding (GO:0003730), pre-mRNA binding (GO:0036002), nucleic acid binding (GO:0003676)

GO Cellular Component (4): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), ribonucleoprotein complex (GO:1990904)

GO top-level categories

21 GO namespaces:

Category	Terms
cellular anatomical structure	2
alternative mRNA splicing, via spliceosome	1
regulation of mRNA splicing, via spliceosome	1
spliceosomal complex assembly	1
protein-RNA complex assembly	1
gene expression	1
RNA biosynthetic process	1
primary metabolic process	1
heart contraction	1
regulation of blood circulation	1
RNA processing	1
mRNA metabolic process	1
RNA metabolic process	1
nucleic acid binding	1
mRNA binding	1
RNA binding	1
binding	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
intracellular anatomical structure	1
protein-containing complex	1

Experimentally-supported GO annotations

GO terms backed by direct experimental evidence (ECO experimental codes) — 5 of 14 annotations. The rest are phylogenetic / computational / electronic (IEA).

5 experimentally-supported GO terms:

GO term	NS	Evidence
mRNA splice site recognition	BP	direct assay
nucleoplasm	CC	direct assay
nucleus	CC	direct assay
RNA binding	MF	high-throughput assay
pre-mRNA binding	MF	direct assay

Protein interactions and networks

STRING

showing 15 of 1,188 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CELF2	CEBPD	P49716	870
CELF2	TNNT2	P45379	737
CELF2	MBNL2	Q5VZF2	715
CELF2	MBNL1	Q9NR56	708
CELF2	PTBP2	Q9UKA9	708
CELF2	PTBP1	P26599	663
CELF2	CHCHD7	Q9BUK0	632
CELF2	DMPK	Q09013	627
CELF2	HNRNPC	P07910	594
CELF2	MBNL3	Q9NUK0	578
CELF2	RBFOX2	O43251	566
CELF2	CLCN1	P35523	543
CELF2	PTGS2	P35354	525
CELF2	RBFOX1	Q9NWB1	523
CELF2	KHSRP	Q92945	522

IntAct

Human interaction partners of CELF2 in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

3 partners by confidence:

Partner	Interaction type	MIscore	Records
GRB2	physical association	0.400	1
CELF1	physical association	0.000	1
PCBP1	physical association	0.000	1

BioGRID (60 interactions; top human partners by supporting records): ELAVL1 (Proximity Label-MS; 4 records), A1CF (Co-fractionation; 2 records), APP (Reconstituted Complex; 2 records), CEBPA (Protein-peptide), CELF1 (Proximity Label-MS), DAZL (Proximity Label-MS), DROSHA (Proximity Label-MS), EIF4ENIF1 (Proximity Label-MS), FAM120C (Proximity Label-MS), FN1 (Affinity Capture-MS), FUBP3 (Proximity Label-MS), HNRNPA1 (Proximity Label-MS), HSD3B7 (Proximity Label-MS), IGF2BP1 (Proximity Label-MS), IGF2BP2 (Proximity Label-MS)

SIGNOR signaling

2 signaling interactions:

A	Effect	B	Mechanism
IRX1	“down-regulates quantity by repression”	CELF2	“transcriptional regulation”
SRC	“up-regulates activity”	CELF2	phosphorylation

Disease & clinical

Genetic variants

Variant evidence for CELF2: 144 ClinVar records (18 pathogenic / likely pathogenic); 32 GWAS associations. Per-variant detail is on Sugi Variant.

ClinVar

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

Classification	Count (floor)
Pathogenic	10
Likely pathogenic	8
Uncertain significance	81
Likely benign	23
Benign	2

Top pathogenic / likely-pathogenic (15)

Showing the 15 best-reviewed of 18 pathogenic / likely-pathogenic ClinVar records, ranked by ClinVar review status (expert panel → multiple submitters → single submitter), then by number of submitting labs.

Variant ID	HGVS	Classification	Review	Submitters
4539930	NM_001326342.2(CELF2):c.1538G>A (p.Arg513His)	Likely pathogenic	criteria provided, multiple submitters, no conflicts	2
1299465	NM_001326342.2(CELF2):c.1562dup (p.Tyr521Ter)	Pathogenic	criteria provided, single submitter	2
1334733	NM_001326342.2(CELF2):c.1517G>A (p.Arg506His)	Pathogenic	criteria provided, single submitter	1
1398077	NM_001326342.2(CELF2):c.1563C>G (p.Tyr521Ter)	Pathogenic	criteria provided, single submitter	1
1685612	NM_001326342.2(CELF2):c.1353del (p.Asp451fs)	Pathogenic	criteria provided, single submitter	1
2579922	NM_001326342.2(CELF2):c.1517G>T (p.Arg506Leu)	Pathogenic	criteria provided, single submitter	1
3359034	NM_001326342.2(CELF2):c.883del (p.Ala295fs)	Pathogenic	criteria provided, single submitter	1
4879431	NM_001326342.2:c.355-6858_403+3281del	Pathogenic	criteria provided, single submitter	1
3338598	NM_001326342.2(CELF2):c.938_939del (p.Ser313fs)	Likely pathogenic	criteria provided, single submitter	1
3375484	NM_001326342.2(CELF2):c.241_262dup (p.Gln88fs)	Likely pathogenic	criteria provided, single submitter	1
4526633	NM_001326342.2(CELF2):c.1412_1415del (p.Lys471fs)	Likely pathogenic	criteria provided, single submitter	1
4854398	NM_001326342.2(CELF2):c.37_38del (p.Met13fs)	Likely pathogenic	criteria provided, single submitter	1
4854577	NM_001326342.2(CELF2):c.1395_1396del (p.Lys466fs)	Likely pathogenic	criteria provided, single submitter	1
4891241	NM_001326342.2(CELF2):c.1537C>T (p.Arg513Cys)	Likely pathogenic	criteria provided, single submitter	1
3391850	GRCh37/hg19 10p15.3-12.31(chr10:100027-18976780)x3	Pathogenic	criteria provided, single submitter	1

Per-variant reference — Sugi Variant

Explore CELF2’s pathogenic and likely-pathogenic variants individually — each with its ClinVar classification and conditions, applied ACMG criteria (ClinGen expert panel, where curated), the calibrated in-silico predictors (AlphaMissense, REVEL, SaProt, conservation), gnomAD frequency, and the predictor-disagreement QC signal — on Sugi Variant.

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 35 predictions of 2,272):

Position(s)	Effect	Δscore	Sites
10:11054700	donor_gain	1.0000
10:11155539	donor_gain	1.0000
10:11165480	acceptor_gain	1.0000
10:11165683–11165684	donor_loss	1.0000	5
10:11257873–11257874	donor_loss	1.0000	5
10:11270825–11270826	donor_loss	1.0000	5
10:11288416–11288417	acceptor_loss	1.0000	6
10:11288553–11288554	donor_loss	1.0000	5
10:11321384	donor_gain	1.0000
10:11321387–11321388	donor_loss	1.0000	5

HPA cancer prognostics

RNA cancer specificity: Low cancer specificity

Human Protein Atlas survival analysis — favorable = higher expression predicts better survival.

1 prognostic cancer types:

Cancer	Prognostic	p-value
Kidney Renal Clear Cell Carcinoma (TCGA)	favorable	0.00061

Disease associations

OMIM: gene MIM:602538 | disease phenotypes: MIM:619561

GenCC curated gene-disease

3 curated gene-disease records:

Disease	Classification	Inheritance	Records
developmental and epileptic encephalopathy 97	Strong	Autosomal dominant	3
undetermined early-onset epileptic encephalopathy	Supportive	Autosomal dominant
complex neurodevelopmental disorder	Limited	Autosomal dominant

Genomics England panels (PanelApp)

Clinical diagnostic gene panels including this gene (7 panels, 7 green/diagnostic-grade). Confidence: green = diagnostic, amber = moderate.

7 panels:

Panel	Rating
DDG2P	green
Early onset or syndromic epilepsy	green
Hypotonic infant	green
Intellectual disability	green
Leukodystrophy, childhood onset	green
Paediatric disorders	green
Unexplained death in infancy and sudden unexplained death in childhood	green

Mondo (4): developmental and epileptic encephalopathy 97 (MONDO:0030453), neurodevelopmental disorder (MONDO:0700092), complex neurodevelopmental disorder (MONDO:0100038), undetermined early-onset epileptic encephalopathy (MONDO:0018614)

HPO phenotypes

showing 60 of 62 phenotypes (HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000252	Microcephaly
HP:0000348	High forehead
HP:0000494	Downslanted palpebral fissures
HP:0000504	Abnormality of vision
HP:0000508	Ptosis
HP:0000546	Retinal degeneration
HP:0000639	Nystagmus
HP:0000648	Optic atrophy
HP:0000668	Hypodontia
HP:0000708	Atypical behavior
HP:0000717	Autism
HP:0000729	Autistic behavior
HP:0000750	Delayed speech and language development
HP:0001249	Intellectual disability
HP:0001250	Seizure
HP:0001251	Ataxia
HP:0001252	Hypotonia
HP:0001257	Spasticity
HP:0001263	Global developmental delay
HP:0001265	Hyporeflexia
HP:0001268	Mental deterioration
HP:0001273	Abnormal corpus callosum morphology
HP:0001288	Gait disturbance
HP:0001290	Generalized hypotonia
HP:0001298	Encephalopathy
HP:0001315	Diminished deep tendon reflex
HP:0001336	Myoclonus
HP:0001337	Tremor
HP:0001508	Failure to thrive
HP:0001558	Decreased fetal movement
HP:0002020	Gastroesophageal reflux
HP:0002059	Cerebral atrophy
HP:0002063	Rigidity
HP:0002119	Ventriculomegaly
HP:0002133	Status epilepticus
HP:0002317	Unsteady gait
HP:0002376	Developmental regression
HP:0002421	Poor head control
HP:0002509	Limb hypertonia
HP:0002521	Hypsarrhythmia
HP:0002540	Inability to walk
HP:0003593	Infantile onset
HP:0003623	Neonatal onset
HP:0004305	Involuntary movements
HP:0004322	Short stature
HP:0007018	Attention deficit hyperactivity disorder
HP:0010844	EEG with multifocal slow activity
HP:0011097	Epileptic spasm
HP:0011443	Abnormality of coordination
HP:0011968	Feeding difficulties
HP:0012171	Stereotypical hand wringing
HP:0012444	Brain atrophy
HP:0012447	Abnormal myelination
HP:0012547	Abnormal involuntary eye movements
HP:0025336	Delayed ability to sit
HP:0031936	Delayed ability to walk
HP:0032989	Delayed ability to roll over
HP:0033128	Delayed ability to crawl
HP:0100660	Dyskinesia

GWAS associations

showing 30 of 32 associations:

Study	Trait	p-value
GCST90014325_18	Asthma	2e-47
GCST007993_5	Asthma (adult onset)	5e-29
GCST007995_31	Asthma (childhood onset)	3e-13
GCST006629_104	Pulse pressure	1e-12
GCST006409_14	Allergic rhinitis	3e-12
GCST90002395_634	Mean platelet volume	7e-12
GCST008674_13	Glycemic traits (pleiotropy)	3e-11
GCST90000047_106	Age at first sexual intercourse	5e-11
GCST007995_30	Asthma (childhood onset)	9e-11
GCST002759_21	Motion sickness	1e-10
GCST006862_7	Asthma	2e-10
GCST007325_301	General risk tolerance (MTAG)	2e-10
GCST007324_118	Adventurousness	7e-10
GCST005212_28	Asthma	4e-9
GCST90011770_47	Glaucoma (primary open-angle)	7e-9
GCST010989_33	Body size at age 10	1e-8
GCST90013410_20	Basal cell carcinoma	1e-8
GCST010988_506	Adult body size	2e-8
GCST007879_2	Chronic kidney disease	3e-8
GCST008363_117	Offspring birth weight	3e-8
GCST008719_1	Follicular lymphoma or rheumatoid arthritis	3e-8
GCST012040_1	Activity variability during wake	3e-8
GCST004839_1	Colorectal cancer	9e-8
GCST000980_1	Alzheimer’s disease (late onset)	2e-7
GCST009028_19	Adverse response to drug	2e-7
GCST002208_2	Liver enzyme levels (aspartate transaminase)	4e-7
GCST003255_10	Urinary albumin-to-creatinine ratio	2e-6
GCST001762_289	Obesity-related traits	4e-6
GCST012170_7	Cognitive function in longevity	4e-6
GCST010294_3	Response to lamotrigine in genetic generalized epilepsy	6e-6

EFO canonical traits (from GWAS)

15 canonical traits:

EFO ID	Trait name
EFO:0004736	aspartate aminotransferase measurement
EFO:0006864	breastfeeding duration
EFO:0006928	motion sickness
EFO:0007778	urinary albumin to creatinine ratio
EFO:0005763	pulse pressure measurement
EFO:0008579	risk-taking behaviour
EFO:1002011	adult onset asthma
EFO:0004344	birth weight
EFO:0005939	parental genotype effect measurement
EFO:0004469	HOMA-B
EFO:0009658	adverse effect
EFO:0009819	comparative body size at age 10, self-reported
EFO:0008002	physical activity measurement
EFO:0008354	cognitive function measurement
EFO:0009749	age at first sexual intercourse measurement

MeSH disease descriptors

1 disease descriptors:

Descriptor	Name	Tree numbers
D065886	Neurodevelopmental Disorders	F03.625

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6066989 (SINGLE PROTEIN)

PharmGKB: 1 entry (CPIC guideline: no)

Binding affinities (BindingDB)

1 measured of 1 human assays (1 total across all organisms); most potent 1 below. Values come from heterogeneous assays and are not directly comparable.

Ligand	Measure	Value
CHEMBL5653589	KD	1440 nM

ChEMBL bioactivities

2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
10.34	Kd	0.046	nM	CHEMBL5653589
9.68	ED50	0.21	nM	CHEMBL5653589

PubChem BioAssay actives

1 with measured affinity, of 2 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2148059: Binding affinity to human CELF2 incubated for 45 mins by Kinobead based pull down assay	kd	<0.0001	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	increases mutagenesis, affects methylation, decreases expression, increases expression, increases methylation	5
Valproic Acid	affects cotreatment, increases expression, affects expression, decreases methylation	5
bisphenol A	affects methylation, affects cotreatment, increases methylation, increases expression	3
trichostatin A	affects cotreatment, increases expression	2
sodium arsenite	affects methylation, decreases expression	2
entinostat	decreases expression, affects cotreatment	2
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression, decreases expression	2
Cisplatin	decreases expression, increases expression	2
Tretinoin	decreases expression	2
Aflatoxin B1	decreases methylation, increases methylation	2
aristolochic acid I	decreases expression	1
bisphenol F	increases methylation	1
methylmercuric chloride	decreases expression	1
cobaltous chloride	decreases expression	1
Huang Qi	affects cotreatment, decreases expression, decreases reaction, increases expression	1
aflatoxin B2	increases methylation	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	decreases expression	1
CGP 52608	affects binding, increases reaction	1
Coptidis rhizoma extract	affects cotreatment, decreases expression, decreases reaction, increases expression	1
2-palmitoylglycerol	increases expression	1
2-cyclopentyl-5-(5-isoquinolylsulfonyl)-6-nitro-1H-benzo(D)imidazole	decreases reaction, increases expression	1
dorsomorphin	affects cotreatment, decreases expression, increases expression	1
Centella asiatica extract	increases expression, affects cotreatment, decreases expression, decreases reaction	1
LDN 193189	affects cotreatment, increases expression	1
(+)-JQ1 compound	decreases expression	1
Sugars	affects cotreatment, decreases expression, decreases reaction, increases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Aconitic Acid	affects cotreatment, decreases expression, decreases reaction, increases expression	1
Air Pollutants	increases abundance, increases expression	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5651101	Binding	Binding affinity to human CELF2 incubated for 45 mins by Kinobead based pull down assay	NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — *ChemMedChem*

Cellosaurus cell lines

2 cell lines: 2 induced pluripotent stem cell

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

Cellosaurus	Name	Category	Sex
CVCL_D0P0	UOCi003-A	Induced pluripotent stem cell	Female
CVCL_D0P5	UOCi003-A-1	Induced pluripotent stem cell	Female

Clinical trials (associated diseases)

Via MONDO — disease-level, not drug-specific.

showing 60 of 212 trials:

NCT	Phase	Status	Title
NCT04586348	Phase 4	UNKNOWN	Prenatal Iodine Supplementation and Early Childhood Neurodevelopment
NCT04873115	Phase 4	UNKNOWN	Double-blind, Placebo-controlled, Randomized Clinical Trial Comparing the Efficacy and Safety of Sialanar Plus orAl rehabiLitation Against Placebo Plus Oral Rehabilitation for chIldren and Adolescents With seVere Sialorrhoea and Neurodisabilties,
NCT02559102	Phase 3	COMPLETED	Dexmedetomidine Sedation Versus General Anaesthesia for Inguinal Hernia Surgery in Infants
NCT02757079	Phase 3	COMPLETED	Study of the Efficacy and Safety of NPC-15 for Sleep Disorders of Children With Neurodevelopmental Disorders
NCT06915480	Phase 3	RECRUITING	Reducing Missed Appointments
NCT07377032	Phase 3	RECRUITING	TAP-GRIN: Interventional Study on Patients With GRIN-related Neurodevelopmental Disorders
NCT02909959	Phase 2	COMPLETED	Sulforaphane for the Treatment of Young Men With Autism Spectrum Disorder
NCT06081348	Phase 2	RECRUITING	Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders
NCT06352372	Phase 2	COMPLETED	Safety and Efficacy of tPBM for Epileptiform Activity in Autism
NCT00503191	Phase 1	COMPLETED	NeuroModulation Technique Treatment of Autism
NCT04475848	Phase 1	COMPLETED	A Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Food Effect of RO6953958 in Healthy Participants
NCT06300398	Phase 1	COMPLETED	IAMA-6 Oral Dose Study in Healthy Adults
NCT06310681	Not specified	COMPLETED	Pilot Testing of a Co-adapted Group Programme for Parents/Carers of Children With Complex Neurodisability
NCT07303049	Not specified	NOT_YET_RECRUITING	Cognitive Benefit of Intensive Rehabilitation Using Rhythmic Music Training in Children With Complex Neurodevelopmental Disorder
NCT01783041	Phase 2/3	COMPLETED	Effect of Early L-Carnitine Supplementation on Neurodevelopmental Outcomes in Very Preterm Infants
NCT05767385	Phase 2/3	COMPLETED	Fetal Cerebrovascular Autoregulation in Congenital Heart Disease and Association With Neonatal Neurobehavior
NCT05675098	Early Phase 1	NOT_YET_RECRUITING	Central Nervous System Stimulants and Physical Function in Children With Cerebral Palsy
NCT00783783	Not specified	COMPLETED	CYP2D6 Pharmacogenetics in Risperidone-Treated Children
NCT01778504	Not specified	RECRUITING	Studying Childhood-onset Behavioral, Psychiatric, and Developmental Disorders
NCT01850784	Not specified	UNKNOWN	High Energy Formula Feeding in Infants With Congenital Heart Disease
NCT01922791	Not specified	COMPLETED	Nutrition and Pregnancy Intervention Study
NCT01942525	Not specified	UNKNOWN	Influence of Intrauterine Growth Restriction on Amplitude-integrated EEG in Preterm Infants
NCT02003170	Not specified	COMPLETED	Etiology and Early Diagnosis of Neurodevelopmental Disorders
NCT02118649	Not specified	COMPLETED	Enhancing Behavior and Brain Response to Visual Targets Using a Computer Game
NCT02557191	Not specified	TERMINATED	Biomarkers, Neurodevelopment and Preterm Infants
NCT02690675	Not specified	COMPLETED	Iron Supplement Effect on Child Development
NCT02694003	Not specified	COMPLETED	Better Nights, Better Days for Children With Neurodevelopment Disorders
NCT02792894	Not specified	COMPLETED	Family Networks (FaNs) for Children With Developmental Disorders and Delays
NCT02871674	Not specified	UNKNOWN	Good Night Project: Behavioural Sleep Interventions for Children With ADHD: A Randomised Controlled Trial
NCT02887157	Not specified	COMPLETED	Analyzing Retinal Microanatomy in ROP
NCT02898298	Not specified	COMPLETED	Positive Emotion Regulation Training in Children, Adolescents and Young Adults With and Without Developmental Disorder
NCT02912780	Not specified	UNKNOWN	Introduction of Microsystems in a Level 3 Neonatal Intensive Care Unit
NCT03023293	Not specified	COMPLETED	n-3 PUFAs, Irisin and Maternal Glucose Metabolism From Pregnancy to Postpartum
NCT03023644	Not specified	COMPLETED	Improving Neurodevelopmental Outcomes in Children With Congenital Heart Disease: An Intervention Study
NCT03032991	Not specified	UNKNOWN	Early Biomarkers of Neurodevelopment in Offspring of Diabetic Mothers
NCT03088189	Not specified	TERMINATED	Effect of Parental Peri-conceptional Vitamin B12 Supplementation on Infant Neurocognitive Development in Offspring
NCT03096028	Not specified	COMPLETED	Developmental Origins of Mental Health Disorders
NCT03148782	Not specified	COMPLETED	Brain Plasticity Underlying Acquisition of New Organizational Skills in Children-R61 Phase
NCT03172104	Not specified	COMPLETED	Neurobehavioural Development of Infants Born <30 Weeks Gestational Age Between Birth and Five Years of Age
NCT03222375	Not specified	RECRUITING	SQUED™ Series 28.1 Home-use and Treatment of Autowave Reverberator of Autism
NCT03229928	Not specified	COMPLETED	Clinical Testing of a Real-Time Behavior Measurement Tool: Measuring Outcomes for CHAnge
NCT03232489	Not specified	UNKNOWN	Study for the Evaluation of the Feasibility of Applying Advanced MRI Scanning in Pediatric Clinical Practice
NCT03381027	Not specified	COMPLETED	BABY SMART (Study of Massage Therapy, Sleep And neurodevelopMenT)
NCT03388294	Not specified	COMPLETED	Evaluation of a Novel Intervention for Infants At Risk for Neurodevelopmental Disorders
NCT03410810	Not specified	UNKNOWN	Childhood Outcomes of Preterm Brain Abnormalities
NCT03492060	Not specified	RECRUITING	Longitudinal Study of Neurogenetic Disorders
NCT03577756	Not specified	COMPLETED	Neurodevelopmental Assessment of Infants With Cystic Fibrosis
NCT03654248	Not specified	COMPLETED	Let’s Get Organized in Adult Psychiatric/habilitation Care
NCT03659279	Not specified	COMPLETED	Let’s Get Organized Feasibility Study
NCT03722615	Not specified	COMPLETED	Epidemiology of Congenital Cytomegalovirus in a High HIV Prevalence Setting, South Africa
NCT03770832	Not specified	ACTIVE_NOT_RECRUITING	Wearable Sensors and Video Recordings to Monitor Motor Development
NCT03830879	Not specified	RECRUITING	Shenzhen Birth Cohort Study
NCT03835689	Not specified	COMPLETED	Strongest FamiliesTM Neurodevelopmental
NCT03882788	Not specified	COMPLETED	The Effect of Anesthesia on Neurodevelopmental Outcome (NDO)
NCT03922087	Not specified	COMPLETED	No-worry Baby Project
NCT03977259	Not specified	ACTIVE_NOT_RECRUITING	Targeting Human Milk Fortification to Improve Preterm Infant Growth and Brain Development
NCT04043572	Not specified	UNKNOWN	The Biomarkers of Neurological Disease in Utero Study
NCT04096430	Not specified	RECRUITING	Evaluation of Effectiveness of Child-oriented Goal-setting in Paediatric Rehabilitation (the ENGAGE Approach)
NCT04108273	Not specified	COMPLETED	Brain Plasticity Underlying Acquisition of New Organizational Skills in Children
NCT04201509	Not specified	COMPLETED	Validity of Neurocognitive Assessment Methods in Childhood ADHD

Predicted chemistry — Sugi Predict

The predicted patent-compound landscape for CELF2 across ~30M SureChEMBL compounds — explore on Sugi Predict.