HNRNPUL2
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Also known as DKFZp762N1910
Summary
HNRNPUL2 (heterogeneous nuclear ribonucleoprotein U like 2, HGNC:25451) is a protein-coding gene on chromosome 11q12.3, encoding Heterogeneous nuclear ribonucleoprotein U-like protein 2 (Q1KMD3). It is a selective cancer dependency (DepMap: 11.0% of cell lines).
Enables RNA binding activity. Predicted to be involved in alternative mRNA splicing, via spliceosome. Located in nucleoplasm.
Source: NCBI Gene 221092 — RefSeq curated summary.
At a glance
- Gene–disease (curated): complex neurodevelopmental disorder (Strong, GenCC)
- Clinical variants (ClinVar): 101 total — 1 pathogenic, 2 likely-pathogenic
- Druggable target: yes
- Cancer dependency (DepMap): dependent in 11.0% of screened cell lines
- MANE Select transcript:
NM_001079559
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:25451 |
| Approved symbol | HNRNPUL2 |
| Name | heterogeneous nuclear ribonucleoprotein U like 2 |
| Location | 11q12.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | DKFZp762N1910 |
| Ensembl gene | ENSG00000214753 |
| Ensembl biotype | protein_coding |
| Entrez | 221092 |
Gene structure
Transcript identifiers
Ensembl transcripts: 5 — 4 protein_coding, 1 retained_intron
ENST00000301785, ENST00000540127, ENST00000855865, ENST00000855866, ENST00000855867
RefSeq mRNA: 1 — MANE Select: NM_001079559
NM_001079559
CCDS: CCDS41659
Canonical transcript exons
ENST00000301785 — 14 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001275622 | 62712630 | 62715379 |
| ENSE00001403727 | 62726619 | 62727457 |
| ENSE00003458718 | 62724291 | 62724426 |
| ENSE00003467619 | 62715500 | 62715607 |
| ENSE00003486841 | 62722813 | 62722903 |
| ENSE00003512824 | 62721295 | 62721423 |
| ENSE00003545348 | 62723914 | 62723990 |
| ENSE00003561292 | 62721820 | 62721942 |
| ENSE00003612025 | 62722601 | 62722713 |
| ENSE00003635486 | 62715864 | 62715937 |
| ENSE00003656539 | 62723587 | 62723726 |
| ENSE00003659479 | 62720023 | 62720191 |
| ENSE00003682277 | 62716989 | 62717189 |
| ENSE00003685051 | 62722117 | 62722380 |
Expression profiles
Bgee: expression breadth ubiquitous, 274 present calls, max score 97.71.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 46.2117 / max 354.5567, expressed in 1820 samples.
FANTOM5 promoters (8 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 120226 | 24.2865 | 1808 |
| 120224 | 16.1366 | 1794 |
| 120223 | 1.5960 | 1021 |
| 120225 | 1.0474 | 639 |
| 120229 | 0.9964 | 673 |
| 120230 | 0.8791 | 585 |
| 120227 | 0.6401 | 357 |
| 120228 | 0.6297 | 356 |
Top tissues by expression
292 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| middle temporal gyrus | UBERON:0002771 | 97.71 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 97.69 | gold quality |
| cerebellar vermis | UBERON:0004720 | 97.28 | gold quality |
| endothelial cell | CL:0000115 | 97.08 | gold quality |
| primary visual cortex | UBERON:0002436 | 96.68 | gold quality |
| ventricular zone | UBERON:0003053 | 96.10 | gold quality |
| tibia | UBERON:0000979 | 95.96 | gold quality |
| occipital lobe | UBERON:0002021 | 95.90 | gold quality |
| postcentral gyrus | UBERON:0002581 | 95.88 | gold quality |
| parietal lobe | UBERON:0001872 | 95.66 | gold quality |
| cerebellar cortex | UBERON:0002129 | 95.49 | gold quality |
| ganglionic eminence | UBERON:0004023 | 95.49 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 95.45 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 95.43 | gold quality |
| skin of hip | UBERON:0001554 | 95.40 | gold quality |
| cortical plate | UBERON:0005343 | 95.30 | gold quality |
| entorhinal cortex | UBERON:0002728 | 95.21 | gold quality |
| medial globus pallidus | UBERON:0002477 | 95.19 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 95.18 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 95.06 | gold quality |
| globus pallidus | UBERON:0001875 | 95.05 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 95.05 | gold quality |
| cerebellum | UBERON:0002037 | 95.04 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 95.04 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 94.96 | gold quality |
| colonic epithelium | UBERON:0000397 | 94.91 | gold quality |
| upper leg skin | UBERON:0004262 | 94.62 | gold quality |
| monocyte | CL:0000576 | 94.61 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 94.47 | gold quality |
| mononuclear cell | CL:0000842 | 94.44 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 4.72 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
118 targeting HNRNPUL2, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-513B-5P | 99.99 | 69.96 | 2150 |
| HSA-MIR-19A-3P | 99.98 | 75.33 | 2762 |
| HSA-MIR-19B-3P | 99.98 | 75.44 | 2754 |
| HSA-MIR-4482-3P | 99.98 | 72.50 | 3147 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-8068 | 99.98 | 73.85 | 2376 |
| HSA-MIR-4803 | 99.98 | 71.99 | 3117 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-302E | 99.96 | 70.74 | 2669 |
| HSA-MIR-548AT-5P | 99.96 | 70.83 | 2666 |
| HSA-MIR-1250-3P | 99.96 | 70.04 | 4038 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-335-3P | 99.93 | 73.36 | 4958 |
| HSA-MIR-1305 | 99.91 | 71.43 | 3443 |
| HSA-MIR-302A-3P | 99.89 | 71.23 | 1777 |
| HSA-MIR-302B-3P | 99.89 | 71.23 | 1777 |
| HSA-MIR-302C-3P | 99.89 | 71.20 | 1778 |
| HSA-MIR-302D-3P | 99.89 | 71.25 | 1777 |
| HSA-LET-7A-2-3P | 99.87 | 70.53 | 1921 |
| HSA-MIR-3065-3P | 99.87 | 70.25 | 1407 |
| HSA-MIR-548AR-3P | 99.85 | 71.26 | 3889 |
| HSA-MIR-369-3P | 99.85 | 70.52 | 2264 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 11.0% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 2)
- hnRNPUL1 and -2 function downstream of MRN and CtBP-interacting protein (CtIP) to promote recruitment of the BLM helicase to DNA breaks. (PMID:22365830)
- it was demonstrated that CRNDE could form a functional complex with heterogeneous nuclear ribonucleoprotein U-like 2 protein (hnRNPUL2) and direct the transport of hnRNPUL2 between the nucleus and cytoplasm. (PMID:28594403)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | si:ch211-107m4.1 | ENSDARG00000056830 |
| mus_musculus | Hnrnpul2 | ENSMUSG00000071659 |
| rattus_norvegicus | Hnrnpul2 | ENSRNOG00000019507 |
Paralogs (2): HNRNPUL1 (ENSG00000105323), HNRNPU (ENSG00000153187)
Protein
Protein identifiers
Heterogeneous nuclear ribonucleoprotein U-like protein 2 — Q1KMD3 (reviewed: Q1KMD3)
Alternative names: Scaffold-attachment factor A2
All UniProt accessions (1): Q1KMD3
UniProt curated annotations — full annotation on UniProt →
Subunit / interactions. Binds to MLF1 and retains it in the nucleus.
Subcellular location. Nucleus.
RefSeq proteins (1): NP_001073027* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001870 | B30.2/SPRY | Domain |
| IPR003034 | SAP_dom | Domain |
| IPR003877 | SPRY_dom | Domain |
| IPR013320 | ConA-like_dom_sf | Homologous_superfamily |
| IPR027417 | P-loop_NTPase | Homologous_superfamily |
| IPR035778 | SPRY_hnRNP_U | Domain |
| IPR036361 | SAP_dom_sf | Homologous_superfamily |
| IPR043136 | B30.2/SPRY_sf | Homologous_superfamily |
Pfam: PF00622, PF02037, PF13671
UniProt features (24 total): modified residue 11, compositionally biased region 8, domain 2, region of interest 2, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q1KMD3-F1 | 70.36 | 0.50 |
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 (11): 161, 165, 168, 185, 188, 226, 228, 656, 684, 738, 747
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 103 (showing top):
GOBP_ALTERNATIVE_MRNA_SPLICING_VIA_SPLICEOSOME, GOBP_RNA_SPLICING, HU_GENOTOXIN_ACTION_DIRECT_VS_INDIRECT_24HR, GOCC_SYNAPSE, CASORELLI_ACUTE_PROMYELOCYTIC_LEUKEMIA_DN, BYSTRYKH_HEMATOPOIESIS_STEM_CELL_QTL_TRANS, GOBP_MRNA_PROCESSING, ARID5B_TARGET_GENES, ASH1L_TARGET_GENES, ATF5_TARGET_GENES, GSE10240_IL22_VS_IL17_STIM_PRIMARY_BRONCHIAL_EPITHELIAL_CELLS_UP, BARX1_TARGET_GENES, CIITA_TARGET_GENES, FOXD2_TARGET_GENES, FOXE1_TARGET_GENES
GO Biological Process (1): alternative mRNA splicing, via spliceosome (GO:0000380)
GO Molecular Function (2): RNA binding (GO:0003723), protein binding (GO:0005515)
GO Cellular Component (4): nucleus (GO:0005634), nucleoplasm (GO:0005654), membrane (GO:0016020), synapse (GO:0045202)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| mRNA splicing, via spliceosome | 1 |
| nucleic acid binding | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| cell junction | 1 |
Protein interactions and networks
STRING
1194 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| HNRNPUL2 | HNRNPA0 | Q13151 | 706 |
| HNRNPUL2 | FAM98A | Q8NCA5 | 666 |
| HNRNPUL2 | DHX36 | Q9H2U1 | 585 |
| HNRNPUL2 | NCBP3 | Q53F19 | 583 |
| HNRNPUL2 | HNRNPM | P52272 | 562 |
| HNRNPUL2 | PUF60 | Q9UHX1 | 543 |
| HNRNPUL2 | SLU7 | O95391 | 530 |
| HNRNPUL2 | PRPF3 | O43395 | 530 |
| HNRNPUL2 | NCBP1 | Q09161 | 512 |
| HNRNPUL2 | ELAVL2 | Q12926 | 509 |
| HNRNPUL2 | SNRNP70 | P08621 | 507 |
| HNRNPUL2 | ELAVL3 | Q14576 | 496 |
| HNRNPUL2 | ELAVL4 | P26378 | 495 |
| HNRNPUL2 | EWSR1 | Q01844 | 492 |
| HNRNPUL2 | HNRNPH3 | P31942 | 489 |
IntAct
218 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ANKRD54 | TULP3 | psi-mi:“MI:0914”(association) | 0.930 |
| PRMT8 | SYNCRIP | psi-mi:“MI:0914”(association) | 0.830 |
| QKI | RBFOX2 | psi-mi:“MI:0914”(association) | 0.720 |
| FAM136A | RBFOX3 | psi-mi:“MI:0914”(association) | 0.640 |
| NCBP1 | KPNA3 | psi-mi:“MI:0914”(association) | 0.640 |
| NCBP2 | KPNA3 | psi-mi:“MI:0914”(association) | 0.640 |
| IGF2BP1 | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.640 |
| HNRNPH2 | PLOD2 | psi-mi:“MI:0914”(association) | 0.530 |
| NCBP3 | SAP18 | psi-mi:“MI:0914”(association) | 0.530 |
| N | HNRNPDL | psi-mi:“MI:0914”(association) | 0.530 |
| N | RBM47 | psi-mi:“MI:0914”(association) | 0.530 |
| KPNB1 | POM121C | psi-mi:“MI:0914”(association) | 0.530 |
| CRYAB | CCDC85C | psi-mi:“MI:0914”(association) | 0.530 |
| ELAVL2 | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.530 |
| RBM7 | HTATSF1 | psi-mi:“MI:0914”(association) | 0.530 |
| FBXW11 | AHCYL1 | psi-mi:“MI:0914”(association) | 0.530 |
| ILF2 | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.530 |
| CPSF6 | DDX39A | psi-mi:“MI:0914”(association) | 0.480 |
| U2SURP | SMNDC1 | psi-mi:“MI:0914”(association) | 0.480 |
| RBM45 | HNRNPDL | psi-mi:“MI:0914”(association) | 0.460 |
| Ybx1 | MRPS18B | psi-mi:“MI:0915”(physical association) | 0.400 |
| MATR3 | BCLAF3 | psi-mi:“MI:0914”(association) | 0.350 |
| HNRNPA1 | MATR3 | psi-mi:“MI:0914”(association) | 0.350 |
| SEC16A | NCOR2 | psi-mi:“MI:0914”(association) | 0.350 |
| Eif3i | CBX4 | psi-mi:“MI:0914”(association) | 0.350 |
| FOXB1 | DDX39A | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (340): HNRNPUL2 (Affinity Capture-MS), HNRNPUL2 (Affinity Capture-MS), HNRNPUL2 (Affinity Capture-MS), HNRNPUL2 (Affinity Capture-MS), HNRNPUL2 (Affinity Capture-MS), HNRNPUL2 (Affinity Capture-MS), HNRNPUL2 (Affinity Capture-MS), HNRNPUL2 (Affinity Capture-MS), HNRNPUL2 (Affinity Capture-MS), HNRNPUL2 (Affinity Capture-MS), HNRNPUL2 (Co-fractionation), HNRNPUL2 (Co-fractionation), HNRNPUL2 (Co-fractionation), HNRNPUL2 (Co-fractionation), HNRNPUL2 (Co-fractionation)
ESM2 similar proteins: A2IBH5, O14745, O14976, O70145, O75064, P02522, P02523, P02524, P07318, P07530, P19141, P26998, P43320, P50479, P51511, P52824, P53674, P55165, P62696, P62697, P62698, P98150, Q00653, Q007T1, Q00978, Q05714, Q15599, Q1KMD3, Q28619, Q2LEC2, Q3SZK8, Q3T005, Q3U1Y4, Q3U435, Q4R6G4, Q5RC07, Q5REG4, Q5RKI3, Q5T124, Q6P5E8
Diamond homologs: A1L252, A3KMV8, O94712, P18160, P53076, P69566, Q00PI9, Q1KMD3, Q1LUS8, Q28FM1, Q4Z8K6, Q55CP6, Q6VN19, Q6VN20, Q96S59, Q9PTY5, Q9SIZ8, Q9VNV3, Q00839, Q6IMY8, Q8VDM6, Q8VEK3, Q9BUJ2, A2VD92, Q0IIK5, Q19614, Q4R7L5, Q5NVJ8, Q5XH91, Q641Y8, Q90WU3, Q91VR5, Q92499, A0A5F9C6I2, B0LPN4, D3ZXK7, E9PZQ0, E9Q401, P11716, P16960
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 215 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| mRNA Polyadenylation | 25 | 15.8× | 7e-21 |
| FGFR2 alternative splicing | 5 | 15.2× | 1e-03 |
| Processing of Capped Intron-Containing Pre-mRNA | 22 | 13.0× | 2e-16 |
| mRNA Splicing | 15 | 11.8× | 2e-10 |
| mRNA Splicing - Major Pathway | 30 | 11.8× | 3e-21 |
| NS1 Mediated Effects on Host Pathways | 5 | 10.3× | 4e-03 |
| mRNA 3’-end processing | 7 | 9.9× | 4e-04 |
| mRNA Splicing - Minor Pathway | 6 | 9.7× | 2e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| positive regulation of cytoplasmic translation | 5 | 26.2× | 1e-04 |
| alternative mRNA splicing, via spliceosome | 5 | 17.8× | 6e-04 |
| regulation of alternative mRNA splicing, via spliceosome | 11 | 14.2× | 7e-08 |
| mRNA transport | 10 | 13.9× | 5e-07 |
| ribosomal large subunit biogenesis | 5 | 11.7× | 3e-03 |
| mRNA stabilization | 6 | 11.6× | 7e-04 |
| mRNA splicing, via spliceosome | 23 | 11.2× | 9e-15 |
| RNA processing | 9 | 10.4× | 2e-05 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
101 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 2 |
| Uncertain significance | 89 |
| Likely benign | 7 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (3)
| Variant ID | HGVS | Classification |
|---|---|---|
| 4271569 | NM_001079559.3(HNRNPUL2):c.656del (p.Glu219fs) | Pathogenic |
| 2636190 | NM_001079559.3(HNRNPUL2):c.223G>T (p.Glu75Ter) | Likely pathogenic |
| 3897583 | NM_001079559.3(HNRNPUL2):c.954G>A (p.Trp318Ter) | Likely pathogenic |
SpliceAI
2079 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 11:62715219:T:A | donor_gain | 1.0000 |
| 11:62715380:C:CC | acceptor_gain | 1.0000 |
| 11:62715491:GATAC:G | donor_loss | 1.0000 |
| 11:62715492:ATACT:A | donor_loss | 1.0000 |
| 11:62715493:TACT:T | donor_loss | 1.0000 |
| 11:62715494:ACTC:A | donor_loss | 1.0000 |
| 11:62715495:C:CA | donor_loss | 1.0000 |
| 11:62715496:T:TA | donor_loss | 1.0000 |
| 11:62715497:C:CC | donor_loss | 1.0000 |
| 11:62715497:CA:C | donor_loss | 1.0000 |
| 11:62715498:A:AC | donor_gain | 1.0000 |
| 11:62715498:ACAT:A | donor_gain | 1.0000 |
| 11:62715498:ACATC:A | donor_gain | 1.0000 |
| 11:62715499:C:CA | donor_gain | 1.0000 |
| 11:62715499:CA:C | donor_gain | 1.0000 |
| 11:62715499:CAT:C | donor_gain | 1.0000 |
| 11:62715499:CATC:C | donor_gain | 1.0000 |
| 11:62715499:CATCC:C | donor_gain | 1.0000 |
| 11:62715501:T:TA | donor_gain | 1.0000 |
| 11:62715502:C:A | donor_gain | 1.0000 |
| 11:62715603:TAACC:T | acceptor_gain | 1.0000 |
| 11:62715604:AACC:A | acceptor_gain | 1.0000 |
| 11:62715605:ACC:A | acceptor_gain | 1.0000 |
| 11:62715606:CC:C | acceptor_gain | 1.0000 |
| 11:62715606:CCC:C | acceptor_gain | 1.0000 |
| 11:62715607:CC:C | acceptor_gain | 1.0000 |
| 11:62715608:C:CA | acceptor_loss | 1.0000 |
| 11:62715608:C:CC | acceptor_gain | 1.0000 |
| 11:62715608:C:T | acceptor_gain | 1.0000 |
| 11:62715608:CTGA:C | acceptor_loss | 1.0000 |
AlphaMissense
4862 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 11:62717105:A:T | V622D | 1.000 |
| 11:62721329:G:T | A526D | 1.000 |
| 11:62721926:C:T | G459E | 1.000 |
| 11:62721927:C:G | G459R | 1.000 |
| 11:62721927:C:T | G459R | 1.000 |
| 11:62724314:G:C | F217L | 1.000 |
| 11:62724314:G:T | F217L | 1.000 |
| 11:62724316:A:G | F217L | 1.000 |
| 11:62727059:A:G | L33P | 1.000 |
| 11:62727071:A:G | L29P | 1.000 |
| 11:62727079:C:A | K26N | 1.000 |
| 11:62727079:C:G | K26N | 1.000 |
| 11:62727113:A:G | L15P | 1.000 |
| 11:62727125:A:G | L11P | 1.000 |
| 11:62717072:A:G | L633P | 0.999 |
| 11:62717084:G:T | A629E | 0.999 |
| 11:62717085:C:G | A629P | 0.999 |
| 11:62717174:G:T | P599H | 0.999 |
| 11:62717185:G:C | N595K | 0.999 |
| 11:62717185:G:T | N595K | 0.999 |
| 11:62720023:C:G | A594P | 0.999 |
| 11:62720024:T:A | K593N | 0.999 |
| 11:62720024:T:G | K593N | 0.999 |
| 11:62720027:C:A | M592I | 0.999 |
| 11:62720027:C:G | M592I | 0.999 |
| 11:62720027:C:T | M592I | 0.999 |
| 11:62720028:A:C | M592R | 0.999 |
| 11:62720028:A:G | M592T | 0.999 |
| 11:62720115:A:T | V563D | 0.999 |
| 11:62720157:A:G | L549P | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000314782 (11:62713697 C>T), RS1000387734 (11:62716705 G>A), RS1000417515 (11:62716363 A>G), RS1000457536 (11:62719624 G>A), RS1000707265 (11:62727479 C>G,T), RS1000824717 (11:62719841 G>GCC), RS1000826593 (11:62727383 A>C,T), RS1001000852 (11:62728456 G>GA,GT), RS1001239413 (11:62728951 C>T), RS1001471332 (11:62728357 CAAAT>C), RS1001506749 (11:62713035 C>G), RS1001653816 (11:62716864 T>A,C,G), RS1001665242 (11:62719220 C>T), RS1001890832 (11:62727678 C>G,T), RS1002022443 (11:62717004 G>A)
Disease associations
OMIM: gene `` | disease phenotypes:
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| complex neurodevelopmental disorder | Strong | Autosomal dominant |
Mondo (2): intellectual disability (MONDO:0001071), complex neurodevelopmental disorder (MONDO:0100038)
Orphanet (1): NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D008607 | Intellectual Disability | C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6066501 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
2 potent at pChembl≥5 of 3 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 6.76 | Kd | 175.3 | nM | CHEMBL5653589 |
| 6.76 | ED50 | 175.3 | nM | CHEMBL5653589 |
PubChem BioAssay actives
1 with measured affinity, of 4 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 | 2148540: Binding affinity to human HNRNPUL2 incubated for 45 mins by Kinobead based pull down assay | kd | 0.1753 | uM |
CTD chemical–gene interactions
46 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | increases expression, affects cotreatment, decreases expression | 3 |
| bisphenol S | increases expression, increases methylation | 2 |
| Valproic Acid | decreases expression, decreases methylation | 2 |
| Aflatoxin B1 | increases methylation | 2 |
| FR900359 | increases phosphorylation | 1 |
| bisphenol F | increases expression | 1 |
| titanium dioxide | increases expression | 1 |
| pyrogallol 1,3-dimethyl ether | affects localization, increases expression, affects cotreatment | 1 |
| tetrahydropalmatine | increases expression | 1 |
| sodium arsenite | increases expression | 1 |
| perfluorooctanoic acid | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| perfluoro-n-nonanoic acid | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| perfluorohexanesulfonic acid | decreases expression | 1 |
| nutlin 3 | increases secretion, affects cotreatment | 1 |
| bisphenol B | increases expression | 1 |
| LDN 193189 | increases expression, affects cotreatment | 1 |
| 3-(2-hydroxy-4-(2-methylnonan-2-yl)phenyl)cyclohexan-1-ol | decreases expression | 1 |
| bisphenol AF | increases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Vorinostat | decreases expression | 1 |
| Benzo(a)pyrene | decreases expression | 1 |
| Caffeine | increases phosphorylation | 1 |
| Dactinomycin | affects cotreatment, increases secretion | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Enzyme Inhibitors | decreases activity, increases O-linked glycosylation | 1 |
| Folic Acid | decreases 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 |
|---|---|---|---|
| CHEMBL5651582 | Binding | Binding affinity to human HNRNPUL2 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 |
Clinical trials (associated diseases)
199 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT05657860 | PHASE4 | COMPLETED | Guanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome |
| NCT05744479 | PHASE4 | RECRUITING | Metformin for Antipsychotic-induced Weight Gain in Adults With Intellectual Disability |
| NCT06107829 | PHASE4 | WITHDRAWN | Valbenazine Treatment of Tardive Dyskinesia in Adults With Intellectual/Developmental Disabilities |
| NCT06997198 | PHASE4 | NOT_YET_RECRUITING | Deutetrabenazine Treatment for Tardive Dyskinesia in Intellectual/Developmental Disabilities |
| NCT02270736 | PHASE3 | COMPLETED | Clinical Study to Investigate the Efficacy and Safety of NT 201 Compared to Placebo in the Treatment of Chronic Troublesome Drooling Associated With Neurological Disorders and/or Intellectual Disability |
| NCT02304302 | PHASE2 | COMPLETED | Down Syndrome Memantine Follow-up Study |
| NCT03862950 | PHASE2 | COMPLETED | A Trial of Metformin in Individuals With Fragile X Syndrome (Met) |
| NCT04529226 | PHASE2 | UNKNOWN | Study to Compare Clozapine vs Treatment as Usual in People With Intellectual Disability & Treatment-resistant Psychosis |
| NCT04821856 | PHASE2 | COMPLETED | Evaluation of the Effectiveness of Cannabidiol in Treating Severe Behavioural Problems in Children and Adolescents With Intellectual Disability |
| NCT05273320 | PHASE1 | COMPLETED | Clinical Trial of Nabilone for Aggression in Adults With Intellectual and Developmental Disabilities |
| NCT05301361 | PHASE1 | ENROLLING_BY_INVITATION | Sensitivity of the NIH Toolbox to Stimulant Treatment in Intellectual Disabilities |
| NCT06016764 | PHASE1 | COMPLETED | Use of MRI and cTBS for Catatonia in Autism |
| NCT06586827 | PHASE1 | COMPLETED | Impact of Competency-Based Training and Technical Assistance Employment Outcomes of Individuals With ID/DD |
| NCT07531940 | PHASE1 | NOT_YET_RECRUITING | Escalating Doses of Memantine in Down Syndrome (MEDS-123) |
| 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 |
| NCT03479476 | PHASE2/PHASE3 | COMPLETED | A Trial of Metformin in Individuals With Fragile X Syndrome |
| NCT02616796 | PHASE1/PHASE2 | COMPLETED | Effects of Social Gaze Training on Brain and Behavior in Fragile X Syndrome |
| NCT06860672 | EARLY_PHASE1 | RECRUITING | Clinical Trial of the Dual Vector Base Editor for the Treatment of the CHD3-R1025W Mutation |
| NCT00597948 | Not specified | COMPLETED | Healthy Lifestyles for People With Intellectual Disabilities |
| NCT01087320 | Not specified | RECRUITING | Genome Medical Sequencing for Gene Discovery |
| NCT01652963 | Not specified | UNKNOWN | Picture-based Computerised Assessment and Training of Cognitive Behaviour Therapy Skills |
| NCT01695395 | Not specified | COMPLETED | Mental Health Care Provision for Adults With Intellectual Disability and a Mental Disorder |
| NCT01867554 | Not specified | COMPLETED | Research and Characterization of New Genes Involved in Intellectual Disability |
| NCT01915381 | Not specified | COMPLETED | Improving Adherence Healthy Lifestyle With a Smartphone Application Based on Adults With Intellectual Disabilities |
| NCT01988623 | Not specified | COMPLETED | Pivotal Response Treatment for Individuals With Intellectual Disabilities |
| NCT02099773 | Not specified | COMPLETED | Support Staff-client Interactions With Augmentative and Alternative Communication |
| NCT02136849 | Not specified | COMPLETED | Inter-regional Project of the Great Western Exploration Approach for Exome Molecular Causes Severe Intellectual Disability Isolated or Syndromic |
| NCT02225041 | Not specified | COMPLETED | Sedation Strategy and Cognitive Outcome After Critical Illness in Early Childhood |
| NCT02414438 | Not specified | COMPLETED | Establishing the Clinical Utility of First StepDx PLUS and NextStepDx PLUS Study |
| NCT02451761 | Not specified | COMPLETED | Apparently Balanced Chromosomal Translocation/ Next-generation Sequencing/ Intellectual Disability |
| NCT02461420 | Not specified | ACTIVE_NOT_RECRUITING | Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome |
| NCT02461459 | Not specified | ACTIVE_NOT_RECRUITING | Autism Spectrum Disorder (ASD) and Intellectual Disability (ID) Determinants in Tuberous Sclerosis Complex (TSC) |
| NCT02486081 | Not specified | COMPLETED | Development and Application-Smart Football for Movement Evaluation and Training in the Special Education Population |
| NCT02504502 | Not specified | COMPLETED | Enhancing Genomic Laboratory Reports to Enhance Communication and Empower Patients |
| NCT02513277 | Not specified | COMPLETED | Diabetes Screening & Prevention for People With Learning (Intellectual) Disabilities:STOP Diabetes Study |
| NCT02561754 | Not specified | COMPLETED | Weight Management for Adolescents With IDD |
| NCT02591446 | Not specified | COMPLETED | Transcranial Magnetic Stimulation Studies in Autism Spectrum Disorders |
| NCT02714868 | Not specified | COMPLETED | Evaluation of Project TEAM (Teens Making Environmental and Activity Modifications) |
| NCT02721394 | Not specified | UNKNOWN | FCT With Young Children With ID in the UK: A Feasibility Project V.1 |
Related Atlas pages
- Associated diseases: complex neurodevelopmental disorder
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): complex neurodevelopmental disorder