NEURL2
gene geneOn this page
Also known as dJ337O18.6FLJ30259OzzOzz-E3
Summary
NEURL2 (neuralized E3 ubiquitin protein ligase 2, HGNC:16156) is a protein-coding gene on chromosome 20q13.12, encoding Neuralized-like protein 2 (Q9BR09). Plays an important role in the process of myofiber differentiation and maturation.
This gene encodes a protein that is involved in the regulation of myofibril organization. This protein is likely the adaptor component of the E3 ubiquitin ligase complex in striated muscle, and it regulates the ubiquitin-mediated degradation of beta-catenin during myogenesis. Alternative splicing of this gene results in multiple transcript variants.
Source: NCBI Gene 140825 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 42 total
- GTEx eGene: eQTL in 21 tissues, sQTL in 6 (q < 0.05)
- Constraint (gnomAD): pLI 0.00 (LoF-tolerant), LOEUF 1.58 (unconstrained)
- MANE Select transcript:
NM_080749
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:16156 |
| Approved symbol | NEURL2 |
| Name | neuralized E3 ubiquitin protein ligase 2 |
| Location | 20q13.12 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | dJ337O18.6, FLJ30259, Ozz, Ozz-E3 |
| Ensembl gene | ENSG00000124257 |
| Ensembl biotype | protein_coding |
| OMIM | 608597 |
| Entrez | 140825 |
Gene structure
Transcript identifiers
Ensembl transcripts: 3 — 3 protein_coding
MANE Select: ENST00000372518
Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 1, TSL 3: 1
ENST00000372518, ENST00000545238, ENST00001133870
RefSeq mRNA: 2 — MANE Select: NM_080749
NM_001278535, NM_080749
CCDS: CCDS13384
Canonical transcript exons
ENST00000372518 — 2 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001458001 | 45888634 | 45888873 |
| ENSE00001458004 | 45890250 | 45891208 |
Expression profiles
Bgee: expression breadth ubiquitous, 185 present calls, max score 94.70.
FANTOM5 (CAGE): breadth broad, TPM avg 0.7910 / max 54.2742, expressed in 443 samples.
Highest expression (Bgee): male germ line stem cell (sensu Vertebrata) in testis, apex of heart, mucosa of stomach, primordial germ cell in gonad, hindlimb stylopod muscle.
Genetic regulation across tissues (GTEx eQTL / sQTL)
NEURL2 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 21 tissues and its splicing (sQTL) in 6 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.
showing 20 of 27 significant tissue × QTL associations:
| Tissue | QTL | q-value | Slope | Lead variant |
|---|---|---|---|---|
| Adipose Subcutaneous | eqtl | 5.0e-12 | +0.28 | 20:46003393:C:T |
| Adipose Visceral Omentum | eqtl | 1.9e-09 | +0.30 | 20:45919331:C:T |
| Thyroid | eqtl | 9.2e-08 | +0.26 | 20:46006406:G:T |
| Spleen | eqtl | 6.1e-07 | +0.68 | 20:45927136:GC:G |
| Testis | eqtl | 1.0e-06 | -0.39 | 20:45894908:G:A |
| Lung | eqtl | 1.6e-05 | +0.33 | 20:45927136:GC:G |
| Colon Transverse | eqtl | 1.7e-05 | +0.27 | 20:46028310:C:T |
| Artery Aorta | eqtl | 2.0e-05 | +0.31 | 20:45916409:C:T |
| Skin Not Sun Exposed Suprapubic | eqtl | 5.3e-05 | +0.29 | 20:45919331:C:T |
| Esophagus Gastroesophageal Junction | eqtl | 1.1e-04 | +0.33 | 20:45919331:C:T |
| Esophagus Muscularis | eqtl | 1.7e-04 | +0.32 | 20:45953548:A:T |
| Skin Sun Exposed Lower leg | eqtl | 7.7e-04 | +0.20 | 20:45914155:C:A |
| Esophagus Mucosa | eqtl | 1.4e-03 | -0.84 | 20:45845224:G:A |
| Artery Tibial | eqtl | 2.5e-03 | -0.50 | 20:46627525:T:G |
| Breast Mammary Tissue | eqtl | 4.7e-03 | -0.27 | 20:45991015:C:G |
| Muscle Skeletal | eqtl | 5.7e-03 | +0.24 | 20:46233862:G:A |
| Heart Atrial Appendage | eqtl | 8.3e-03 | +0.25 | 20:45916409:C:T |
| Testis | sqtl | 8.3e-03 | +0.37 | 20:45860835:G:A |
| Nerve Tibial | eqtl | 8.6e-03 | +0.21 | 20:45919331:C:T |
| Colon Transverse | sqtl | 9.7e-03 | +0.75 | 20:45445910:C:T |
FANTOM5 promoters
2 alternative TSS:
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 187496 | 0.3972 | 209 |
| 187497 | 0.3938 | 165 |
Top tissues by expression
showing 100 of 245 tissues by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 94.70 | gold quality |
| apex of heart | UBERON:0002098 | 87.08 | gold quality |
| mucosa of stomach | UBERON:0001199 | 84.61 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 83.87 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 83.60 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 83.18 | silver quality |
| thymus | UBERON:0002370 | 82.99 | gold quality |
| muscle of leg | UBERON:0001383 | 81.91 | gold quality |
| gastrocnemius | UBERON:0001388 | 81.89 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 81.52 | gold quality |
| quadriceps femoris | UBERON:0001377 | 81.38 | silver quality |
| vastus lateralis | UBERON:0001379 | 80.97 | silver quality |
| right adrenal gland | UBERON:0001233 | 80.21 | gold quality |
| left ovary | UBERON:0002119 | 79.61 | gold quality |
| right ovary | UBERON:0002118 | 79.58 | gold quality |
| left adrenal gland | UBERON:0001234 | 79.29 | gold quality |
| right coronary artery | UBERON:0001625 | 79.13 | gold quality |
| omental fat pad | UBERON:0010414 | 79.01 | gold quality |
| right lobe of liver | UBERON:0001114 | 78.99 | gold quality |
| left coronary artery | UBERON:0001626 | 78.96 | gold quality |
| peritoneum | UBERON:0002358 | 78.94 | gold quality |
| left uterine tube | UBERON:0001303 | 78.88 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 78.43 | gold quality |
| heart left ventricle | UBERON:0002084 | 78.33 | gold quality |
| lower esophagus | UBERON:0013473 | 78.28 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 78.28 | gold quality |
| metanephros cortex | UBERON:0010533 | 78.10 | gold quality |
| right atrium auricular region | UBERON:0006631 | 78.04 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 78.01 | gold quality |
| coronary artery | UBERON:0001621 | 77.88 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 77.87 | gold quality |
| cardiac ventricle | UBERON:0002082 | 77.64 | gold quality |
| adrenal cortex | UBERON:0001235 | 77.36 | gold quality |
| cardiac atrium | UBERON:0002081 | 77.36 | gold quality |
| thoracic aorta | UBERON:0001515 | 77.32 | gold quality |
| ascending aorta | UBERON:0001496 | 77.25 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 77.24 | gold quality |
| heart | UBERON:0000948 | 77.02 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 76.88 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 76.69 | gold quality |
| aorta | UBERON:0000947 | 76.63 | gold quality |
| muscle tissue | UBERON:0002385 | 76.63 | gold quality |
| popliteal artery | UBERON:0002250 | 76.36 | gold quality |
| tibial artery | UBERON:0007610 | 76.34 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 76.32 | gold quality |
| transverse colon | UBERON:0001157 | 75.95 | gold quality |
| deltoid | UBERON:0001476 | 75.95 | silver quality |
| biceps brachii | UBERON:0001507 | 75.86 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 75.82 | gold quality |
| adrenal gland | UBERON:0002369 | 75.82 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 75.71 | gold quality |
| ovary | UBERON:0000992 | 75.66 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 75.41 | gold quality |
| body of uterus | UBERON:0009853 | 75.31 | gold quality |
| kidney epithelium | UBERON:0004819 | 75.14 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 74.65 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 74.44 | gold quality |
| stromal cell of endometrium | CL:0002255 | 74.29 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 74.24 | gold quality |
| tibial nerve | UBERON:0001323 | 73.98 | gold quality |
| ectocervix | UBERON:0012249 | 73.86 | gold quality |
| small intestine | UBERON:0002108 | 73.32 | gold quality |
| minor salivary gland | UBERON:0001830 | 73.26 | gold quality |
| endocervix | UBERON:0000458 | 73.19 | gold quality |
| colon | UBERON:0001155 | 72.97 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 72.88 | silver quality |
| metanephros | UBERON:0000081 | 72.85 | gold quality |
| thyroid gland | UBERON:0002046 | 72.76 | gold quality |
| cortex of kidney | UBERON:0001225 | 72.72 | gold quality |
| skin of leg | UBERON:0001511 | 72.63 | gold quality |
| body of stomach | UBERON:0001161 | 72.54 | gold quality |
| large intestine | UBERON:0000059 | 72.43 | gold quality |
| intestine | UBERON:0000160 | 72.43 | gold quality |
| adipose tissue | UBERON:0001013 | 72.43 | gold quality |
| esophagus | UBERON:0001043 | 72.39 | gold quality |
| spleen | UBERON:0002106 | 71.97 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 71.76 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 71.55 | silver quality |
| cerebellar hemisphere | UBERON:0002245 | 71.11 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 71.11 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 70.97 | gold quality |
| cerebellar cortex | UBERON:0002129 | 70.96 | gold quality |
| fundus of stomach | UBERON:0001160 | 70.71 | gold quality |
| skin of abdomen | UBERON:0001416 | 70.70 | gold quality |
| upper arm skin | UBERON:0004263 | 70.69 | gold quality |
| gall bladder | UBERON:0002110 | 70.65 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 70.26 | gold quality |
| mouth mucosa | UBERON:0003729 | 70.13 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 70.04 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 69.89 | gold quality |
| cerebellum | UBERON:0002037 | 69.84 | gold quality |
| right uterine tube | UBERON:0001302 | 69.38 | gold quality |
| body of pancreas | UBERON:0001150 | 69.17 | gold quality |
| liver | UBERON:0002107 | 69.12 | gold quality |
| right lung | UBERON:0002167 | 69.11 | gold quality |
| pituitary gland | UBERON:0000007 | 69.01 | gold quality |
| zone of skin | UBERON:0000014 | 68.89 | gold quality |
| stomach | UBERON:0000945 | 68.84 | gold quality |
| upper lobe of lung | UBERON:0008948 | 68.81 | gold quality |
| myometrium | UBERON:0001296 | 68.79 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 2.91 |
HPA expression
RNA tissue specificity: Low tissue specificity
showing 60 of 79 HPA tissues / cells by nTPM:
| Tissue / cell | Axis | nTPM | Protein (IHC) |
|---|---|---|---|
| Skeletal muscle | tissue | 17.8 | medium |
| Choroid plexus | tissue | 14.6 | |
| Nucleus accumbens | tissue | 9.6 | |
| Tongue | tissue | 8.3 | |
| Hippocampus | tissue | 8.1 | medium |
| Locus coeruleus | tissue | 7.6 | |
| Postcentral gyrus | tissue | 7.5 | |
| Thymus | tissue | 7.1 | |
| Adipose tissue | tissue | 5.3 | not detected |
| Ovary | tissue | 4.7 | low |
| Small intestine | tissue | 4.4 | medium |
| Pituitary gland | tissue | 4.1 | |
| Duodenum | tissue | 4.1 | medium |
| Vagina | tissue | 4.0 | medium |
| Retina | tissue | 3.9 | |
| Heart muscle | tissue | 3.8 | not detected |
| Smooth muscle | tissue | 3.7 | not detected |
| Kidney | tissue | 3.7 | low |
| Skin 1 | tissue | 3.6 | medium |
| Parathyroid gland | tissue | 3.6 | not detected |
| Basal ganglia | tissue | 3.6 | medium |
| Putamen | tissue | 3.4 | |
| Liver | tissue | 3.2 | medium |
| Endometrium 1 | tissue | 3.1 | not detected |
| Ventral forebrain | tissue | 3.0 | |
| Cerebral cortex | tissue | 2.8 | low |
| Epididymis | tissue | 2.8 | low |
| Placenta | tissue | 2.8 | high |
| Thyroid gland | tissue | 2.8 | medium |
| Gallbladder | tissue | 2.8 | medium |
| Somatosensory cortex | tissue | 2.8 | |
| Fallopian tube | tissue | 2.7 | medium |
| Septum | tissue | 2.7 | |
| Seminal vesicle | tissue | 2.6 | not detected |
| Retrosplenial cortex | tissue | 2.6 | |
| Hippocampal formation | tissue | 2.5 | |
| Appendix | tissue | 2.5 | medium |
| Salivary gland | tissue | 2.4 | low |
| Motor cortex | tissue | 2.4 | |
| Prostate | tissue | 2.4 | low |
| Adrenal gland | tissue | 2.4 | low |
| Frontal cortex | tissue | 2.3 | |
| Retrosplenial and cingulate cortex | tissue | 2.3 | |
| Occipital cortex | tissue | 2.3 | |
| Prefrontal cortex | tissue | 2.2 | |
| Colon | tissue | 2.2 | medium |
| Thalamus | tissue | 2.2 | |
| Entorhinal cortex | tissue | 2.2 | |
| Olfactory bulb | tissue | 2.2 | |
| Amygdala | tissue | 2.1 | |
| Caudate putamen | tissue | 2.1 | |
| Temporal cortex | tissue | 2.1 | |
| Insular cortex | tissue | 2.1 | |
| Pons | tissue | 2.0 | |
| Rectum | tissue | 2.0 | medium |
| Hypothalamus | tissue | 2.0 | |
| Periaqueductal gray | tissue | 2.0 | |
| Superior colliculi | tissue | 1.9 | |
| Spinal cord | tissue | 1.9 | |
| Stomach 1 | tissue | 1.8 | high |
Brain sub-regions (HPA Brain Atlas): detected in 190; highest nTPM — Flocculonodular lobe (15.1), Vermis (14.8), Cerebellar cortex (13.5), Piriform cortex (12.9), Frontal operculum (11.9).
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
Targeting NEURL2 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).
13 miRNAs:
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-4283 | 100.00 | 66.42 | 2097 |
| HSA-MIR-6721-5P | 99.93 | 68.92 | 2981 |
| HSA-MIR-4648 | 99.91 | 67.00 | 710 |
| HSA-MIR-148A-5P | 99.30 | 68.27 | 1141 |
| HSA-MIR-500A-5P | 98.76 | 69.13 | 1241 |
| HSA-MIR-548Q | 98.71 | 65.35 | 563 |
| HSA-MIR-1-5P | 98.70 | 68.66 | 1017 |
| HSA-MIR-6837-3P | 98.42 | 66.71 | 1149 |
| HSA-MIR-6880-5P | 98.08 | 65.59 | 1282 |
| HSA-MIR-3194-5P | 96.80 | 64.90 | 1027 |
| HSA-MIR-4435 | 95.90 | 65.47 | 1201 |
| HSA-MIR-4522 | 95.76 | 66.23 | 742 |
| HSA-MIR-11400 | 94.03 | 67.12 | 81 |
Functional genomics
gnomAD constraint: pLI 1.76e-06, LOEUF 1.58, missense Z 0.329 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD
Regional missense constraint (gnomAD RMC): no regional variation along ENST00000372518 — one region, missense o/e 0.96.
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | neurl2 | ENSDARG00000062446 |
| mus_musculus | Neurl2 | ENSMUSG00000039873 |
Mouse-model phenotypes
Observed phenotypes of the mouse ortholog (MGI:3043305) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 7 distinct phenotype terms.
| Mouse phenotype (MP) | Records |
|---|---|
| decreased leukocyte cell number | 1 |
| abnormal skeletal muscle morphology | 1 |
| decreased body weight | 1 |
| abnormal coat appearance | 1 |
| increased heart weight | 1 |
| decreased circulating iron level | 1 |
| decreased circulating glucose 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 |
|---|---|---|---|
| Rattus norvegicus | Q5M870 | 94.9% | Diamond |
| Drosophila melanogaster | P29503 | 80.6% | Diamond |
| Drosophila virilis | Q24746 | 80.6% | 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 |
|---|---|---|
| SPATA25 | protein-coding | 128497 |
| PLTP | protein-coding | 5360 |
| CTSA | protein-coding | 5476 |
| ZNF335 | protein-coding | 63925 |
| PCIF1 | protein-coding | 63935 |
| ZSWIM3 | protein-coding | 140831 |
| ZSWIM1 | protein-coding | 90204 |
| ACOT8 | protein-coding | 10005 |
| SNX21 | protein-coding | 90203 |
| TNNC2 | protein-coding | 7125 |
Protein
Protein identifiers
Neuralized-like protein 2 — Q9BR09 (reviewed: Q9BR09)
All UniProt accessions (2): H0YGA6, Q9BR09
UniProt curated annotations — full annotation on UniProt →
Function. Plays an important role in the process of myofiber differentiation and maturation. Probable substrate-recognition component of a SCF-like ECS (Elongin BC-CUL2/5-SOCS-box protein) E3 ubiquitin-protein ligase complex, which mediates the ubiquitination of proteins. Probably contributes to catalysis through recognition and positioning of the substrate and the ubiquitin-conjugating enzyme. During myogenesis, controls the ubiquitination and degradation of the specific pool of CTNNB1/beta-catenin located at the sarcolemma.
Subunit / interactions. Probable component the ECS(NEURL2) E3 ubiquitin-protein ligase complex consisting of ELOB/Elongin B, ELOC/Elongin C, CUL5, RBX1 and NEURL2. Interacts with CTNNB1.
Subcellular location. Cytoplasm.
Tissue specificity. Expressed specifically in skeletal and cardiac muscles.
Domain organisation. The SOCS domain mediates the interaction with ELOB and ELOC, while the NHR domain may be involved in ubiquitination substrate binding.
Pathway. Protein modification; protein ubiquitination.
RefSeq proteins (2): NP_001265464, NP_542787* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001496 | SOCS_box | Domain |
| IPR006573 | NHR_dom | Domain |
| IPR036036 | SOCS_box-like_dom_sf | Homologous_superfamily |
| IPR037962 | Neuralized | Family |
| IPR043136 | B30.2/SPRY_sf | Homologous_superfamily |
Pfam: PF07177, PF07525
UniProt features (5 total): domain 2, chain 1, region of interest 1, sequence variant 1
Structure
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9BR09-F1 | 83.30 | 0.53 |
Human Protein Atlas
Protein class: Predicted intracellular proteins, UniProt - Evidence at transcript level
Protein evidence: Evidence at protein level
Subcellular location (HPA, imaging): vesicles
Antibody reliability (HPA): IH approved · IF approved
Function
Pathways and Gene Ontology
Reactome pathways
1 curated (TAS) of 3; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).
3 pathways:
| ID | Pathway | Evidence |
|---|---|---|
| R-HSA-8951664 | Neddylation | curated |
| R-HSA-392499 | Metabolism of proteins | — |
| R-HSA-597592 | Post-translational protein modification | — |
MSigDB gene sets: 106 (showing top):
BHATI_G2M_ARREST_BY_2METHOXYESTRADIOL_DN, GOBP_STRIATED_MUSCLE_CELL_DIFFERENTIATION, AP2_Q3, GOBP_CELLULAR_COMPONENT_ASSEMBLY_INVOLVED_IN_MORPHOGENESIS, GOBP_MUSCLE_STRUCTURE_DEVELOPMENT, GOBP_ACTOMYOSIN_STRUCTURE_ORGANIZATION, GOBP_ORGANELLE_ASSEMBLY, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, PU1_Q6, RYTTCCTG_ETS2_B, RGAGGAARY_PU1_Q6, GOBP_MUSCLE_CELL_DEVELOPMENT, GOBP_MUSCLE_CELL_DIFFERENTIATION, MYCMAX_03, GOMF_ACYLTRANSFERASE_ACTIVITY
GO Biological Process (3): protein ubiquitination (GO:0016567), myofibril assembly (GO:0030239), intracellular signal transduction (GO:0035556)
GO Molecular Function (1): ubiquitin protein ligase activity (GO:0061630)
GO Cellular Component (2): cytosol (GO:0005829), cytoplasm (GO:0005737)
Reactome top-level categories
2 top-level categories:
| Category | Pathways |
|---|---|
| Post-translational protein modification | 1 |
| Metabolism of proteins | 1 |
GO top-level categories
12 GO namespaces:
| Category | Terms |
|---|---|
| intracellular anatomical structure | 2 |
| cellular anatomical structure | 2 |
| protein modification by small protein conjugation | 1 |
| cellular component assembly involved in morphogenesis | 1 |
| actomyosin structure organization | 1 |
| striated muscle cell development | 1 |
| supramolecular fiber organization | 1 |
| membraneless organelle assembly | 1 |
| signal transduction | 1 |
| ubiquitin-protein transferase activity | 1 |
| ubiquitin-like protein ligase activity | 1 |
| cytoplasm | 1 |
Protein interactions and networks
STRING
showing 15 of 346 interactions by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| NEURL2 | SPATA25 | Q9BR10 | 742 |
| NEURL2 | CISH | Q9NSE2 | 637 |
| NEURL2 | ZSWIM1 | Q9BR11 | 593 |
| NEURL2 | NEURL1 | O76050 | 527 |
| NEURL2 | ACOT8 | O14734 | 500 |
| NEURL2 | ZNF335 | Q9H4Z2 | 497 |
| NEURL2 | WFDC10B | Q8IUB3 | 491 |
| NEURL2 | SNX21 | Q969T3 | 484 |
| NEURL2 | ASB5 | Q8WWX0 | 473 |
| NEURL2 | CTNNB1 | P35222 | 471 |
| NEURL2 | LSMEM1 | Q8N8F7 | 461 |
| NEURL2 | FHL3 | Q13643 | 455 |
| NEURL2 | WFDC3 | Q8IUB2 | 441 |
| NEURL2 | PDRG1 | Q9NUG6 | 424 |
| NEURL2 | ALPK3 | Q96L96 | 416 |
IntAct
BioGRID (10 interactions; top human partners by supporting records): SMN1 (Affinity Capture-Western; 2 records), CTNNB1 (Biochemical Activity), EGFR (Negative Genetic), MYH6 (Biochemical Activity), PDCD6IP (Biochemical Activity), PTP4A3 (Positive Genetic), RBX1 (Reconstituted Complex), TCEB1 (Reconstituted Complex), UBE2H (Reconstituted Complex)
Disease & clinical
Genetic variants
Variant evidence for NEURL2: 42 ClinVar records (0 pathogenic / likely pathogenic).
ClinVar
42 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 39 |
| Likely benign | 3 |
| Benign | 0 |
SpliceAI
Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 25 predictions of 87):
| Position(s) | Effect | Δscore | Sites |
|---|---|---|---|
| 20:45890248–45890249 | donor_loss | 0.9700 | 6 |
| 20:45888874–45888875 | acceptor_loss | 0.9600 | 6 |
| 20:45888876 | acceptor_loss | 0.9400 | |
| 20:45890327 | donor_gain | 0.8100 | |
| 20:45890258 | donor_gain | 0.8000 | |
| 20:45890245 | donor_loss | 0.7900 | |
| 20:45890245 | donor_loss | 0.7700 | |
| 20:45888880 | acceptor_gain | 0.7600 | |
| 20:45890280 | donor_gain | 0.7000 | |
| 20:45888888–45888889 | acceptor_loss | 0.6700 | 6 |
AlphaMissense
700 missense substitutions predicted likely pathogenic (of 1,826 scored), across 170 residues. Top 20 hotspot residues, ranked by the number of likely-pathogenic substitutions (of those reachable by a single-nucleotide change), then by mean score:
| Residue | Likely-pathogenic substitutions | Mean am_pathogenicity | Max am_pathogenicity |
|---|---|---|---|
| D231 | 8 | 0.990 | 0.996 |
| F49 | 8 | 0.972 | 0.999 |
| F66 | 8 | 0.967 | 0.997 |
| F55 | 8 | 0.961 | 0.997 |
| F26 | 8 | 0.959 | 0.996 |
| D212 | 8 | 0.945 | 0.980 |
| F233 | 8 | 0.940 | 0.998 |
| H205 | 8 | 0.917 | 0.992 |
| S56 | 8 | 0.897 | 0.998 |
| D173 | 8 | 0.843 | 0.958 |
| H80 | 8 | 0.836 | 0.964 |
| H27 | 8 | 0.802 | 0.929 |
| W77 | 7 | 0.986 | 0.997 |
| N209 | 7 | 0.965 | 0.997 |
| F99 | 7 | 0.952 | 0.992 |
| W111 | 7 | 0.949 | 0.979 |
| F113 | 7 | 0.934 | 0.988 |
| M204 | 7 | 0.926 | 0.983 |
| C255 | 7 | 0.910 | 0.991 |
| S188 | 7 | 0.902 | 0.994 |
HPA cancer prognostics
RNA cancer specificity: Low cancer specificity
Human Protein Atlas survival analysis — favorable = higher expression predicts better survival.
5 prognostic cancer types:
| Cancer | Prognostic | p-value |
|---|---|---|
| Rectum Adenocarcinoma (TCGA) | favorable | 1.13e-05 |
| Cervical Squamous Cell Carcinoma and Endocervical Adenocarcinoma (TCGA) | favorable | 0.000184 |
| Liver Hepatocellular Carcinoma (TCGA) | unfavorable | 0.000286 |
| Pancreatic Adenocarcinoma (TCGA) | favorable | 0.000705 |
| Kidney Renal Papillary Cell Carcinoma (TCGA) | favorable | 0.000859 |
Disease associations
OMIM: gene MIM:608597 | disease phenotypes:
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (CPIC guideline: no)
CTD chemical–gene interactions
20 total (human), top 20 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | increases expression | 4 |
| Tetrachlorodibenzodioxin | affects expression, increases expression | 3 |
| Nickel | increases expression | 2 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| abrine | increases expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Cisplatin | affects cotreatment, increases expression | 1 |
| Doxorubicin | increases expression | 1 |
| Estradiol | decreases expression | 1 |
| Smoke | decreases expression | 1 |
| Triclosan | decreases expression | 1 |
| Urethane | decreases expression | 1 |
| Cyclosporine | decreases expression | 1 |
| Aflatoxin B1 | increases expression | 1 |
| Antirheumatic Agents | decreases expression | 1 |
| Okadaic Acid | decreases expression | 1 |
| Copper Sulfate | decreases expression | 1 |
| S-Nitrosoglutathione | affects 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.