CPEB2
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Summary
CPEB2 (cytoplasmic polyadenylation element binding protein 2, HGNC:21745) is a protein-coding gene on chromosome 4p15.32, encoding Cytoplasmic polyadenylation element-binding protein 2 (Q7Z5Q1). May play a role in translational regulation of stored mRNAs in transcriptionally inactive haploid spermatids.
The protein encoded by this gene is highly similar to cytoplasmic polyadenylation element binding protein (CPEB), an mRNA-binding protein that regulates cytoplasmic polyadenylation of mRNA as a trans factor in oogenesis and spermatogenesis. Studies of the similar gene in mice suggested a possible role of this protein in transcriptionally inactive haploid spermatids. Alternatively spliced transcript variants encoding distinct isoforms have been described.
Source: NCBI Gene 132864 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 170 total
- GTEx eGene: eQTL in 14 tissues, sQTL in 5 (q < 0.05)
- Constraint (gnomAD): pLI 0.00 (LoF-tolerant), LOEUF 1.33 (unconstrained)
- MANE Select transcript:
NM_001177382 - Notable: 170 clinical variants but no curated precision-oncology (CIViC) evidence yet
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:21745 |
| Approved symbol | CPEB2 |
| Name | cytoplasmic polyadenylation element binding protein 2 |
| Location | 4p15.32 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000137449 |
| Ensembl biotype | protein_coding |
| OMIM | 610605 |
| Entrez | 132864 |
Gene structure
Transcript identifiers
Ensembl transcripts: 8 — 7 protein_coding, 1 retained_intron
MANE Select: ENST00000538197
Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 4, TSL 3: 2, TSL 5: 2
ENST00000538197, ENST00000345451, ENST00000382395, ENST00000382401, ENST00000442003, ENST00000503926, ENST00000507071, ENST00000509684
RefSeq mRNA: 6 — MANE Select: NM_001177382
NM_001177381, NM_001177382, NM_001177383, NM_001177384, NM_182485, NM_182646
CCDS: CCDS56325, CCDS56326, CCDS93479, CCDS93480
Canonical transcript exons
ENST00000538197 — 12 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000927352 | 15062079 | 15062260 |
| ENSE00001293264 | 15052414 | 15052584 |
| ENSE00001312682 | 15017188 | 15017278 |
| ENSE00001318425 | 15054128 | 15054217 |
| ENSE00001338033 | 15008338 | 15008427 |
| ENSE00001338035 | 15033161 | 15033211 |
| ENSE00001338038 | 15007305 | 15007586 |
| ENSE00001491992 | 15040464 | 15040487 |
| ENSE00001692146 | 15058421 | 15058539 |
| ENSE00001718573 | 15059187 | 15059301 |
| ENSE00002040018 | 15066153 | 15070151 |
| ENSE00003908489 | 15002481 | 15004335 |
Expression profiles
Bgee: expression breadth ubiquitous, 256 present calls, max score 98.68.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 37.5769 / max 670.7050, expressed in 1803 samples.
Highest expression (Bgee): sperm, upper arm skin, buccal mucosa cell, endothelial cell, upper leg skin.
Genetic regulation across tissues (GTEx eQTL / sQTL)
CPEB2 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 |
|---|---|---|---|---|
| Esophagus Mucosa | eqtl | 8.0e-19 | +0.28 | 4:15042115:G:A |
| Whole Blood | eqtl | 1.6e-11 | +0.14 | 4:15007608:C:T |
| Nerve Tibial | eqtl | 1.1e-07 | +0.15 | 4:15081256:T:C |
| Skin Sun Exposed Lower leg | eqtl | 1.3e-05 | -0.14 | 4:15023994:C:G |
| Testis | sqtl | 2.1e-05 | -0.31 | 4:14989265:T:G |
| Skin Not Sun Exposed Suprapubic | sqtl | 2.5e-05 | +0.33 | 4:15079063:T:C |
| Skin Not Sun Exposed Suprapubic | eqtl | 7.7e-05 | +0.16 | 4:15088829:C:T |
| Esophagus Muscularis | eqtl | 8.2e-05 | +0.18 | 4:14990530:C:T |
| Cells EBV-transformed lymphocytes | eqtl | 1.3e-04 | +0.24 | 4:15018602:A:G |
| Skin Sun Exposed Lower leg | sqtl | 1.6e-03 | +0.30 | 4:14968359:T:G |
| Artery Tibial | sqtl | 8.0e-03 | +0.28 | 4:15071954:A:G |
| Breast Mammary Tissue | eqtl | 1.1e-02 | +0.16 | 4:15114312:G:A |
| Brain Hippocampus | eqtl | 1.6e-02 | +1.38 | 4:14849808:G:C |
| Stomach | eqtl | 3.2e-02 | +0.39 | 4:15146624:A:G |
| Cells Cultured fibroblasts | eqtl | 3.3e-02 | -0.15 | 4:14108896:T:C |
| Brain Cerebellar Hemisphere | eqtl | 3.3e-02 | -0.20 | 4:15169420:G:A |
| Brain Cerebellum | eqtl | 4.1e-02 | -0.25 | 4:15169420:G:A |
| Nerve Tibial | sqtl | 4.5e-02 | -1.06 | 4:15479961:G:C |
| Thyroid | eqtl | 4.6e-02 | +0.23 | 4:15127607:G:T |
FANTOM5 promoters
10 alternative TSS:
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 46967 | 21.5741 | 1753 |
| 46960 | 5.0416 | 1388 |
| 46963 | 3.8394 | 1239 |
| 46971 | 3.4597 | 1364 |
| 46966 | 1.3408 | 677 |
| 46964 | 1.2686 | 584 |
| 46962 | 0.3589 | 188 |
| 46965 | 0.2727 | 124 |
| 46961 | 0.2399 | 125 |
| 46970 | 0.1814 | 68 |
Top tissues by expression
showing 100 of 256 tissues by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| sperm | CL:0000019 | 98.68 | gold quality |
| upper arm skin | UBERON:0004263 | 97.90 | gold quality |
| buccal mucosa cell | CL:0002336 | 97.55 | gold quality |
| endothelial cell | CL:0000115 | 97.42 | gold quality |
| upper leg skin | UBERON:0004262 | 97.29 | gold quality |
| gingival epithelium | UBERON:0001949 | 97.28 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 96.91 | gold quality |
| gingiva | UBERON:0001828 | 96.80 | gold quality |
| oviduct epithelium | UBERON:0004804 | 96.43 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 96.26 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 95.87 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 95.75 | gold quality |
| corpus callosum | UBERON:0002336 | 95.51 | gold quality |
| medulla oblongata | UBERON:0001896 | 95.37 | gold quality |
| adult organism | UBERON:0007023 | 95.35 | gold quality |
| saphenous vein | UBERON:0007318 | 95.34 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 95.28 | gold quality |
| penis | UBERON:0000989 | 95.11 | gold quality |
| trigeminal ganglion | UBERON:0001675 | 95.09 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 95.03 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 94.95 | gold quality |
| skin of hip | UBERON:0001554 | 94.85 | gold quality |
| entorhinal cortex | UBERON:0002728 | 94.81 | gold quality |
| dorsal plus ventral thalamus | UBERON:0001897 | 94.75 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 94.75 | gold quality |
| cauda epididymis | UBERON:0004360 | 94.71 | gold quality |
| mammalian vulva | UBERON:0000997 | 94.62 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 94.38 | gold quality |
| amniotic fluid | UBERON:0000173 | 94.15 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 94.07 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 93.76 | gold quality |
| jejunal mucosa | UBERON:0000399 | 93.51 | gold quality |
| postcentral gyrus | UBERON:0002581 | 93.39 | gold quality |
| kidney epithelium | UBERON:0004819 | 93.39 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 93.35 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 93.14 | gold quality |
| dorsal root ganglion | UBERON:0000044 | 93.13 | gold quality |
| nipple | UBERON:0002030 | 93.03 | gold quality |
| seminal vesicle | UBERON:0000998 | 92.91 | gold quality |
| parietal lobe | UBERON:0001872 | 92.89 | gold quality |
| visceral pleura | UBERON:0002401 | 92.67 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 92.59 | gold quality |
| corpus epididymis | UBERON:0004359 | 92.40 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 92.38 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 92.28 | gold quality |
| ventral tegmental area | UBERON:0002691 | 92.18 | gold quality |
| myocardium | UBERON:0002349 | 92.04 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 92.00 | gold quality |
| renal medulla | UBERON:0000362 | 91.92 | gold quality |
| layer of synovial tissue | UBERON:0007616 | 91.89 | gold quality |
| globus pallidus | UBERON:0001875 | 91.76 | gold quality |
| oral cavity | UBERON:0000167 | 91.75 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 91.62 | gold quality |
| secondary oocyte | CL:0000655 | 91.52 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 91.23 | gold quality |
| pons | UBERON:0000988 | 91.19 | gold quality |
| cardia of stomach | UBERON:0001162 | 91.02 | gold quality |
| jejunum | UBERON:0002115 | 91.01 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 91.01 | gold quality |
| left testis | UBERON:0004533 | 90.83 | gold quality |
| medial globus pallidus | UBERON:0002477 | 90.77 | gold quality |
| biceps brachii | UBERON:0001507 | 90.74 | gold quality |
| ileal mucosa | UBERON:0000331 | 90.70 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 90.60 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 90.60 | gold quality |
| right testis | UBERON:0004534 | 90.54 | gold quality |
| colonic mucosa | UBERON:0000317 | 90.48 | gold quality |
| caput epididymis | UBERON:0004358 | 90.48 | gold quality |
| deltoid | UBERON:0001476 | 90.38 | gold quality |
| occipital lobe | UBERON:0002021 | 90.38 | gold quality |
| testis | UBERON:0000473 | 90.30 | gold quality |
| heart right ventricle | UBERON:0002080 | 90.25 | gold quality |
| superficial temporal artery | UBERON:0001614 | 90.16 | gold quality |
| primary visual cortex | UBERON:0002436 | 89.86 | gold quality |
| urethra | UBERON:0000057 | 89.34 | gold quality |
| parietal pleura | UBERON:0002400 | 89.20 | gold quality |
| pancreatic ductal cell | CL:0002079 | 88.94 | gold quality |
| zone of skin | UBERON:0000014 | 88.89 | gold quality |
| lower lobe of lung | UBERON:0008949 | 88.87 | gold quality |
| synovial joint | UBERON:0002217 | 88.64 | gold quality |
| epithelium of mammary gland | UBERON:0003244 | 88.59 | gold quality |
| mammary duct | UBERON:0001765 | 88.51 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 88.50 | gold quality |
| tibialis anterior | UBERON:0001385 | 88.48 | gold quality |
| bone marrow | UBERON:0002371 | 88.23 | gold quality |
| skin of leg | UBERON:0001511 | 88.01 | gold quality |
| temporal lobe | UBERON:0001871 | 88.01 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 87.95 | gold quality |
| skin of abdomen | UBERON:0001416 | 87.79 | gold quality |
| mammary gland | UBERON:0001911 | 87.73 | gold quality |
| thoracic mammary gland | UBERON:0005200 | 87.65 | gold quality |
| Ammon’s horn | UBERON:0001954 | 87.58 | gold quality |
| spinal cord | UBERON:0002240 | 87.53 | gold quality |
| calcaneal tendon | UBERON:0003701 | 87.06 | gold quality |
| body of tongue | UBERON:0011876 | 86.82 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 86.70 | gold quality |
| quadriceps femoris | UBERON:0001377 | 86.68 | gold quality |
| vastus lateralis | UBERON:0001379 | 86.66 | gold quality |
| midbrain | UBERON:0001891 | 86.62 | gold quality |
| cerebellar vermis | UBERON:0004720 | 86.40 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-135922 | yes | 9.81 |
| E-ANND-3 | no | 0.00 |
HPA expression
RNA tissue specificity: Low tissue specificity
showing 60 of 76 HPA tissues / cells by nTPM:
| Tissue / cell | Axis | nTPM |
|---|---|---|
| Locus coeruleus | tissue | 53.9 |
| Nucleus accumbens | tissue | 53.7 |
| Corpus callosum | tissue | 47.8 |
| Hippocampus | tissue | 41.9 |
| Postcentral gyrus | tissue | 38.5 |
| Spinal cord | tissue | 37.4 |
| Thalamus | tissue | 36.8 |
| Midbrain | tissue | 36.6 |
| Medulla oblongata | tissue | 36.2 |
| Pons | tissue | 35.6 |
| Testis | tissue | 35.4 |
| Choroid plexus | tissue | 33.2 |
| Periaqueductal gray | tissue | 31.8 |
| Hypothalamus | tissue | 31.6 |
| Substantia nigra | tissue | 31.3 |
| Superior colliculi | tissue | 30.5 |
| Ventral forebrain | tissue | 27.5 |
| Septum | tissue | 26.7 |
| Cerebral cortex | tissue | 25.8 |
| Motor cortex | tissue | 25.8 |
| Putamen | tissue | 25.5 |
| Amygdala | tissue | 25.3 |
| Bone marrow | tissue | 25.1 |
| Retrosplenial cortex | tissue | 24.9 |
| Hippocampal formation | tissue | 24.2 |
| Retrosplenial and cingulate cortex | tissue | 22.8 |
| Prefrontal cortex | tissue | 22.7 |
| Insular cortex | tissue | 22.6 |
| Frontal cortex | tissue | 21.4 |
| Occipital cortex | tissue | 21.4 |
| Somatosensory cortex | tissue | 21.0 |
| Skin 1 | tissue | 20.4 |
| Entorhinal cortex | tissue | 20.1 |
| Caudate putamen | tissue | 20.1 |
| Temporal cortex | tissue | 20.0 |
| Liver | tissue | 16.4 |
| Basal ganglia | tissue | 16.0 |
| Parathyroid gland | tissue | 15.3 |
| Cerebellum | tissue | 15.0 |
| Olfactory bulb | tissue | 15.0 |
| Retina | tissue | 14.9 |
| Breast | tissue | 11.5 |
| Kidney | tissue | 11.2 |
| Esophagus | tissue | 10.9 |
| Vagina | tissue | 10.4 |
| Seminal vesicle | tissue | 10.1 |
| Rectum | tissue | 9.1 |
| Gallbladder | tissue | 8.9 |
| Stomach 1 | tissue | 8.6 |
| Adipose tissue | tissue | 8.5 |
| Small intestine | tissue | 8.2 |
| Smooth muscle | tissue | 8.1 |
| Lung | tissue | 8.0 |
| Duodenum | tissue | 7.9 |
| Prostate | tissue | 7.9 |
| Epididymis | tissue | 7.8 |
| Urinary bladder | tissue | 7.3 |
| Colon | tissue | 7.1 |
| Salivary gland | tissue | 6.9 |
| Heart muscle | tissue | 6.8 |
Brain sub-regions (HPA Brain Atlas): detected in 189; highest nTPM — Parieto-temporal junction (white matter) (112.1), Corpus callosum, genu (white matter) (98.7), Corpus callosum, splenium (white matter) (96.4), Temporal white matter (87.2), Occipital cortex (white matter) (77.2).
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
Targeting CPEB2 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).
showing 30 of 399 miRNAs:
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-9-5P | 100.00 | 72.28 | 2361 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-3924 | 100.00 | 72.09 | 2394 |
| HSA-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-4668-3P | 100.00 | 68.74 | 2635 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-6873-3P | 100.00 | 71.42 | 2626 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-4789-3P | 99.99 | 70.75 | 2484 |
| HSA-MIR-4531 | 99.99 | 69.70 | 3181 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-4500 | 99.99 | 72.72 | 2367 |
| HSA-MIR-33A-5P | 99.99 | 68.62 | 1055 |
| HSA-MIR-33B-5P | 99.99 | 68.58 | 1062 |
| HSA-MIR-3185 | 99.99 | 68.12 | 1959 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-6077 | 99.99 | 68.04 | 2299 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
Functional genomics
gnomAD constraint: pLI 2.39e-16, LOEUF 1.33, missense Z -3.92 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD
Regional missense constraint (gnomAD)
ENST00000538197 splits into 2 regions with different missense tolerance; 0 are missense-constrained. Missense variants in a constrained region (low observed/expected) are more likely to be pathogenic. gnomAD
| Region (GRCh38) | Missense obs / exp | o/e | Constrained |
|---|---|---|---|
| 4:15,002,674–15,052,509 | 1411 / 1056.0 | 1.34 | no |
| 4:15,052,510–15,066,377 | 168 / 339.1 | 0.50 | no |
Literature-anchored findings (GeneRIF, showing 13)
- Functional studies of the mouse homolog (PMID:12672660)
- findings demonstrate that the regulation of CPEB2 mRNA splicing is a key mechanism in AnR and a driving force in TNBC metastasis (PMID:26304115)
- CPEB1, 2, and 4, are essential to successful mitotic cell division. (PMID:26398195)
- Long non-coding RNA TUG1 mediates methotrexate resistance in colorectal cancer via miR-186/CPEB2 axis. (PMID:28302487)
- Our findings demonstrated the overexpression of miR-885-5p in liver metastasis and its roles in inducing CRC metastasis, potentiating development of miR-885-5p inhibitor to treat advanced CRC in the future. (PMID:28460469)
- Data demonstrated an increased occurrence of both SRSF3 and the CPEB2B isoform in triple negative breast cancer (TNBC), and identified a consensus binding motif for SRSF3 in the exon promoting the CPEB2B isoform. The study also suggests that the splicing event, which promotes the expression of CPEB2B, is driven by SRSF3 as well as linked to aggressive growth in metastatic TNBC. (PMID:31138601)
- CPEB2, presumably the isoform A, plays a key role in suppressing tumorigenesis in mammary epithelial cells by repressing EMT, migration, invasion, proliferation and stem-like cells phenotype, via multiple targets, including a newly-identified translational target p53. (PMID:31185986)
- A positive feedback self-regulatory loop between miR-210 and HIF-1alpha mediated by CPEB2 is involved in trophoblast syncytialization: implication of trophoblast malfunction in preeclampsiadagger. (PMID:31616934)
- The RNA binding protein CPEB2 regulates hormone sensing in mammary gland development and luminal breast cancer. (PMID:32440535)
- A p53/CPEB2 negative feedback loop regulates renal cancer cell proliferation and migration. (PMID:34362680)
- CPEB2 m6A methylation regulates blood-tumor barrier permeability by regulating splicing factor SRSF5 stability. (PMID:36064747)
- CPEB2 enhances cell growth and angiogenesis by upregulating ARPC5 mRNA stability in multiple myeloma. (PMID:37231521)
- CPEB2 inhibit cell proliferation through upregulating p21 mRNA stability in glioma. (PMID:38158431)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | cpeb2 | ENSDARG00000052604 |
| mus_musculus | Cpeb2 | ENSMUSG00000039782 |
| rattus_norvegicus | Cpeb2 | ENSRNOG00000005043 |
| drosophila_melanogaster | orb2 | FBGN0264307 |
| caenorhabditis_elegans | WBGENE00000770 | |
| caenorhabditis_elegans | WBGENE00000771 |
Paralogs (3): CPEB3 (ENSG00000107864), CPEB4 (ENSG00000113742), CPEB1 (ENSG00000214575)
Mouse-model phenotypes
Observed phenotypes of the mouse ortholog (MGI:2442640) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 13 distinct phenotype terms.
| Mouse phenotype (MP) | Records |
|---|---|
| abnormal parasympathetic neuron morphology | 1 |
| bronchoconstriction | 1 |
| abnormal breathing pattern | 1 |
| increased airway responsiveness | 1 |
| respiratory failure | 1 |
| apnea | 1 |
| abnormal whole-body plethysmography | 1 |
| decreased heart rate | 1 |
| decreased pulmonary respiratory rate | 1 |
| abnormal parasympathetic nervous system physiology | 1 |
| postnatal lethality, incomplete penetrance | 1 |
| increased brain choline acetyltransferase activity | 1 |
| increased acetylcholine level | 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 |
|---|---|---|---|
| Pongo abelii | Q5R733 | 98.4% | Diamond |
| Xenopus laevis | Q52KN7 | 96.8% | Diamond |
| Carassius auratus | Q9DED5 | 95.3% | Diamond |
| Xenopus tropicalis | Q28CH2 | 86.0% | Diamond |
| Caenorhabditis briggsae | Q6E3F3 | 72.0% | Diamond |
| Caenorhabditis remanei | Q6E3F2 | 71.3% | Diamond |
| Aplysia californica | Q967R6 | 66.8% | Diamond |
| Caenorhabditis japonica | Q6E3F0 | 65.4% | 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 |
|---|---|---|
| C1QTNF7 | protein-coding | 114905 |
| LINC00504 | ncRNA | 201853 |
| FBXL5 | protein-coding | 26234 |
| CPEB2-DT | ncRNA | 441009 |
| CC2D2A | protein-coding | 57545 |
| C1QTNF7-AS1 | ncRNA | 101929095 |
| LINC01085 | ncRNA | 152742 |
Protein
Protein identifiers
Cytoplasmic polyadenylation element-binding protein 2 — Q7Z5Q1 (reviewed: Q7Z5Q1)
All UniProt accessions (6): A0A5K1VW61, A0A5K1VW71, A0A5K1VW79, A0A5K1VW93, Q7Z5Q1, H0Y9D9
UniProt curated annotations — full annotation on UniProt →
Function. May play a role in translational regulation of stored mRNAs in transcriptionally inactive haploid spermatids. Binds to poly(U) RNA oligomers. Required for cell cycle progression, specifically for the transition from metaphase to anaphase.
Subunit / interactions. Interacts with TENT2/GLD2.
Subcellular location. Cytoplasm.
Similarity. Belongs to the RRM CPEB family.
Isoforms (8)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q7Z5Q1-2 | 1 | yes |
| Q7Z5Q1-3 | 2 | |
| Q7Z5Q1-4 | 3 | |
| Q7Z5Q1-5 | 4, CPEB2b | |
| Q7Z5Q1-6 | 5 | |
| Q7Z5Q1-7 | 6 | |
| Q7Z5Q1-8 | 7 | |
| Q7Z5Q1-9 | 8 |
RefSeq proteins (6): NP_001170852, NP_001170853, NP_001170854, NP_001170855, NP_872291, NP_872587 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000504 | RRM_dom | Domain |
| IPR012677 | Nucleotide-bd_a/b_plait_sf | Homologous_superfamily |
| IPR032296 | CEBP_ZZ | Domain |
| IPR034819 | CPEB | Family |
| IPR035979 | RBD_domain_sf | Homologous_superfamily |
| IPR038446 | CEBP_ZZ_sf | Homologous_superfamily |
Pfam: PF16366, PF16367
UniProt features (17 total): splice variant 5, compositionally biased region 5, domain 2, region of interest 2, chain 1, modified residue 1, sequence conflict 1
Structure
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q7Z5Q1-F1 | 61.86 | 0.37 |
Human Protein Atlas
Protein class: Predicted intracellular proteins, UniProt - Evidence at transcript level
Protein evidence: Evidence at protein level
Subcellular location (HPA, imaging): cytosol
Antibody reliability (HPA): IF approved
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 (1)
| Type | Positions |
|---|---|
| Phosphoserine | 89 |
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: 399 (showing top):
GOBP_CYTOPLASMIC_TRANSLATION, GOBP_RESPONSE_TO_NITROGEN_COMPOUND, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, TGCACTT_MIR519C_MIR519B_MIR519A, TTTGTAG_MIR520D, ATACCTC_MIR202, GOZGIT_ESR1_TARGETS_DN, GAUSSMANN_MLL_AF4_FUSION_TARGETS_A_DN, GTTAAAG_MIR302B, GOBP_REGULATION_OF_TRANSLATIONAL_ELONGATION, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, AATGGAG_MIR136, BONCI_TARGETS_OF_MIR15A_AND_MIR16_1, GOBP_CELLULAR_RESPONSE_TO_INSULIN_STIMULUS, GOBP_NEGATIVE_REGULATION_OF_TRANSLATION
GO Biological Process (6): cellular response to insulin stimulus (GO:0032869), cellular response to hypoxia (GO:0071456), negative regulation of cytoplasmic translational elongation (GO:1900248), negative regulation of cytoplasmic translation (GO:2000766), translation (GO:0006412), regulation of translation (GO:0006417)
GO Molecular Function (11): mRNA regulatory element binding translation repressor activity (GO:0000900), RNA binding (GO:0003723), mRNA 3’-UTR binding (GO:0003730), GTPase inhibitor activity (GO:0005095), translation factor activity, RNA binding (GO:0008135), mRNA 3’-UTR AU-rich region binding (GO:0035925), ribosome binding (GO:0043022), ribosomal large subunit binding (GO:0043023), ribosomal small subunit binding (GO:0043024), nucleic acid binding (GO:0003676), translation regulator activity (GO:0045182)
GO Cellular Component (4): nucleus (GO:0005634), cytoplasm (GO:0005737), neuron projection (GO:0043005), synapse (GO:0045202)
GO top-level categories
41 GO namespaces:
| Category | Terms |
|---|---|
| translation | 2 |
| mRNA binding | 2 |
| ribosome binding | 2 |
| response to insulin | 1 |
| cellular response to peptide hormone stimulus | 1 |
| response to hypoxia | 1 |
| cellular response to stress | 1 |
| cellular response to decreased oxygen levels | 1 |
| cytoplasmic translational elongation | 1 |
| negative regulation of translational elongation | 1 |
| regulation of cytoplasmic translational elongation | 1 |
| negative regulation of cytoplasmic translation | 1 |
| cytoplasmic translation | 1 |
| negative regulation of translation | 1 |
| regulation of cytoplasmic translation | 1 |
| peptidyltransferase activity | 1 |
| translational initiation | 1 |
| translational elongation | 1 |
| translational termination | 1 |
| macromolecule biosynthetic process | 1 |
| protein metabolic process | 1 |
| protein biosynthetic process | 1 |
| post-transcriptional regulation of gene expression | 1 |
| regulation of protein metabolic process | 1 |
| translation repressor activity | 1 |
| nucleic acid binding | 1 |
| GTPase activity | 1 |
| enzyme inhibitor activity | 1 |
| GTPase regulator activity | 1 |
| RNA binding | 1 |
| translation factor activity | 1 |
| mRNA 3’-UTR binding | 1 |
| ribonucleoprotein complex binding | 1 |
| binding | 1 |
| molecular_function | 1 |
| regulation of translation | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
| plasma membrane bounded cell projection | 1 |
| cell junction | 1 |
Experimentally-supported GO annotations
GO terms backed by direct experimental evidence (ECO experimental codes) — 6 of 21 annotations. The rest are phylogenetic / computational / electronic (IEA).
6 experimentally-supported GO terms:
| GO term | NS | Evidence |
|---|---|---|
| cellular response to hypoxia | BP | direct assay |
| cellular response to insulin stimulus | BP | direct assay |
| negative regulation of cytoplasmic translation | BP | mutant phenotype |
| cytoplasm | CC | direct assay |
| nucleus | CC | direct assay |
| RNA binding | MF | high-throughput assay |
Protein interactions and networks
STRING
showing 15 of 678 interactions by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CPEB2 | TENT2 | Q6PIY7 | 565 |
| CPEB2 | FXR2 | P51116 | 492 |
| CPEB2 | FXR1 | P51114 | 477 |
| CPEB2 | FMR1 | Q06787 | 474 |
| CPEB2 | PAPOLG | Q9BWT3 | 451 |
| CPEB2 | PAPOLB | Q9NRJ5 | 450 |
| CPEB2 | PAPOLA | P51003 | 448 |
| CPEB2 | NGDN | Q8NEJ9 | 435 |
| CPEB2 | SYMPK | Q92797 | 424 |
| CPEB2 | EIF4E | P06730 | 381 |
| CPEB2 | ZNF207 | O43670 | 374 |
| CPEB2 | CISD3 | P0C7P0 | 370 |
| CPEB2 | SPAG4 | Q9NPE6 | 369 |
| CPEB2 | RSBN1 | Q5VWQ0 | 368 |
| CPEB2 | TIA1 | P31483 | 365 |
IntAct
Human interaction partners of CPEB2 in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).
1 partners by confidence:
| Partner | Interaction type | MIscore | Records |
|---|---|---|---|
| CPEB4 | association | 0.350 | 1 |
BioGRID (50 interactions; top human partners by supporting records): EEF2 (Two-hybrid; 3 records), GPX7 (Affinity Capture-Western; 3 records), ATG2A (Two-hybrid), ATP1B2 (Two-hybrid), ATP6 (Two-hybrid), BSCL2 (Two-hybrid), C2CD2L (Two-hybrid), CAPN15 (Two-hybrid), COPS7A (Two-hybrid), CPEB4 (Affinity Capture-MS), CSK (Synthetic Lethality), DMRTB1 (Two-hybrid), DYRK1A (Affinity Capture-MS), ERI3 (Two-hybrid), GAA (Two-hybrid)
Disease & clinical
Genetic variants
Variant evidence for CPEB2: 170 ClinVar records (0 pathogenic / likely pathogenic); 3 GWAS associations.
ClinVar
170 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 164 |
| Likely benign | 0 |
| Benign | 1 |
SpliceAI
Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 28 predictions of 1,621):
| Position(s) | Effect | Δscore | Sites |
|---|---|---|---|
| 4:15007587–15007588 | donor_loss | 1.0000 | 4 |
| 4:15017186–15017187 | acceptor_loss | 1.0000 | 4 |
| 4:15017187 | acceptor_gain | 1.0000 | |
| 4:15017279–15017280 | donor_loss | 1.0000 | 3 |
| 4:15052412–15052413 | acceptor_loss | 1.0000 | 5 |
| 4:15052582 | donor_gain | 1.0000 | |
| 4:15052585–15052586 | donor_loss | 1.0000 | 3 |
| 4:15054126 | acceptor_gain | 1.0000 | |
| 4:15058409 | acceptor_gain | 1.0000 | |
| 4:15058540–15058541 | 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.
2 prognostic cancer types:
| Cancer | Prognostic | p-value |
|---|---|---|
| Cervical Squamous Cell Carcinoma and Endocervical Adenocarcinoma (TCGA) | unfavorable | 8e-05 |
| Glioblastoma Multiforme (validation) | unfavorable | 0.000337 |
Disease associations
OMIM: gene MIM:610605 | disease phenotypes:
GWAS associations
3 associations:
| Study | Trait | p-value |
|---|---|---|
| GCST010244_141 | Triglyceride levels | 2e-8 |
| GCST012042_1 | Type 2 diabetes | 3e-8 |
| GCST006406_3 | Cognitive flexibility | 3e-7 |
EFO canonical traits (from GWAS)
2 canonical traits:
| EFO ID | Trait name |
|---|---|
| EFO:0009332 | executive function measurement |
| EFO:0004530 | triglyceride measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (CPIC guideline: no)
CTD chemical–gene interactions
76 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| methylmercuric chloride | affects cotreatment, increases expression | 3 |
| Estradiol | affects cotreatment, increases expression | 3 |
| trichostatin A | affects cotreatment, increases expression | 2 |
| sodium arsenite | decreases expression, increases expression | 2 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 2 |
| mercuric bromide | increases expression, affects cotreatment | 2 |
| chromium hexavalent ion | increases expression, decreases expression, increases abundance | 2 |
| Air Pollutants | affects expression, increases abundance, increases expression | 2 |
| Calcitriol | increases expression, affects cotreatment | 2 |
| Ozone | affects expression, increases abundance, increases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| Tretinoin | increases expression | 2 |
| Cyclosporine | increases expression | 2 |
| p-Chloromercuribenzoic Acid | affects cotreatment, increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| 3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide | decreases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| bisphenol F | affects cotreatment, decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | affects cotreatment, decreases expression | 1 |
| 2-methyl-4-isothiazolin-3-one | increases expression | 1 |
| arsenite | decreases reaction, affects binding | 1 |
| sulforaphane | decreases methylation | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| zinc chromate | increases abundance, increases expression | 1 |
| epigallocatechin gallate | affects cotreatment, decreases expression | 1 |
| pentanal | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| pentabromodiphenyl ether | increases expression | 1 |
Clinical trials (associated diseases)
Via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.