HNRNPLL
gene geneOn this page
Summary
HNRNPLL (heterogeneous nuclear ribonucleoprotein L like, HGNC:25127) is a protein-coding gene on chromosome 2p22.1, encoding Heterogeneous nuclear ribonucleoprotein L-like (Q8WVV9). RNA-binding protein that functions as a regulator of alternative splicing for multiple target mRNAs, including PTPRC/CD45 and STAT5A.
HNRNPLL is a master regulator of activation-induced alternative splicing in T cells. In particular, it alters splicing of CD45 (PTPRC; MIM 151460), a tyrosine phosphatase essential for T-cell development and activation (Oberdoerffer et al., 2008 [PubMed 18669861]).
Source: NCBI Gene 92906 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 60 total
- Druggable target: yes
- MANE Select transcript:
NM_138394
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:25127 |
| Approved symbol | HNRNPLL |
| Name | heterogeneous nuclear ribonucleoprotein L like |
| Location | 2p22.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000143889 |
| Ensembl biotype | protein_coding |
| OMIM | 611208 |
| Entrez | 92906 |
Gene structure
Transcript identifiers
Ensembl transcripts: 12 — 9 protein_coding, 1 nonsense_mediated_decay, 1 retained_intron, 1 protein_coding_CDS_not_defined
ENST00000272249, ENST00000358367, ENST00000378915, ENST00000409328, ENST00000409636, ENST00000410076, ENST00000425682, ENST00000441689, ENST00000449105, ENST00000488099, ENST00000498516, ENST00000608859
RefSeq mRNA: 2 — MANE Select: NM_138394
NM_001142650, NM_138394
CCDS: CCDS1796, CCDS46261
Canonical transcript exons
ENST00000449105 — 13 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000962485 | 38591530 | 38591648 |
| ENSE00001210568 | 38581913 | 38581985 |
| ENSE00001210572 | 38585644 | 38585881 |
| ENSE00001586313 | 38582072 | 38582168 |
| ENSE00001860993 | 38602438 | 38602928 |
| ENSE00003495126 | 38568386 | 38568443 |
| ENSE00003550637 | 38569133 | 38569334 |
| ENSE00003553028 | 38568199 | 38568297 |
| ENSE00003589430 | 38577461 | 38577532 |
| ENSE00003648708 | 38573210 | 38573427 |
| ENSE00003682755 | 38569804 | 38569925 |
| ENSE00003687211 | 38583841 | 38583926 |
| ENSE00003844262 | 38561969 | 38564237 |
Expression profiles
Bgee: expression breadth ubiquitous, 259 present calls, max score 96.77.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 23.5046 / max 1041.2367, expressed in 1814 samples.
FANTOM5 promoters (8 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 27881 | 11.8332 | 1787 |
| 27880 | 6.5227 | 1670 |
| 27883 | 2.1880 | 675 |
| 27882 | 1.1715 | 767 |
| 27879 | 0.9724 | 581 |
| 27878 | 0.4161 | 198 |
| 27877 | 0.2792 | 105 |
| 27884 | 0.1216 | 41 |
Top tissues by expression
260 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| ventricular zone | UBERON:0003053 | 96.77 | gold quality |
| embryo | UBERON:0000922 | 96.64 | gold quality |
| ganglionic eminence | UBERON:0004023 | 96.64 | gold quality |
| adrenal tissue | UBERON:0018303 | 94.73 | gold quality |
| adult organism | UBERON:0007023 | 94.66 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 94.54 | gold quality |
| cartilage tissue | UBERON:0002418 | 93.68 | gold quality |
| cortical plate | UBERON:0005343 | 93.56 | gold quality |
| parotid gland | UBERON:0001831 | 93.12 | gold quality |
| cauda epididymis | UBERON:0004360 | 92.79 | gold quality |
| left testis | UBERON:0004533 | 92.74 | gold quality |
| right testis | UBERON:0004534 | 92.58 | gold quality |
| saphenous vein | UBERON:0007318 | 92.43 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 92.29 | gold quality |
| bone marrow | UBERON:0002371 | 92.19 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 92.09 | gold quality |
| testis | UBERON:0000473 | 91.98 | gold quality |
| right uterine tube | UBERON:0001302 | 91.95 | gold quality |
| endothelial cell | CL:0000115 | 91.94 | gold quality |
| popliteal artery | UBERON:0002250 | 91.78 | gold quality |
| tibial artery | UBERON:0007610 | 91.77 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 91.60 | gold quality |
| lower esophagus | UBERON:0013473 | 91.56 | gold quality |
| body of uterus | UBERON:0009853 | 91.54 | gold quality |
| artery | UBERON:0001637 | 91.50 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 91.44 | gold quality |
| mucosa of stomach | UBERON:0001199 | 91.43 | gold quality |
| bronchial epithelial cell | CL:0002328 | 91.38 | gold quality |
| right lung | UBERON:0002167 | 91.31 | gold quality |
| aorta | UBERON:0000947 | 91.29 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
71 targeting HNRNPLL, 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-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-3134 | 100.00 | 66.43 | 777 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-4803 | 99.98 | 71.99 | 3117 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-1468-3P | 99.96 | 72.74 | 3797 |
| HSA-MIR-4666A-3P | 99.96 | 71.71 | 3434 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-381-3P | 99.93 | 71.87 | 2854 |
| HSA-MIR-300 | 99.92 | 71.76 | 2856 |
| HSA-MIR-10523-5P | 99.91 | 69.22 | 2038 |
| HSA-MIR-3529-3P | 99.90 | 73.55 | 3045 |
| HSA-MIR-4307 | 99.82 | 70.45 | 3374 |
| HSA-MIR-4760-5P | 99.80 | 69.88 | 1619 |
| HSA-MIR-4517 | 99.76 | 69.19 | 1867 |
| HSA-MIR-6505-5P | 99.73 | 69.25 | 1595 |
| HSA-MIR-5580-3P | 99.70 | 69.41 | 2052 |
| HSA-MIR-3618 | 99.69 | 68.57 | 1012 |
| HSA-MIR-379-3P | 99.69 | 69.60 | 1524 |
| HSA-MIR-411-3P | 99.69 | 69.63 | 1524 |
| HSA-MIR-10393-5P | 99.65 | 68.01 | 1368 |
| HSA-MIR-8061 | 99.63 | 69.44 | 1411 |
| HSA-MIR-3942-3P | 99.57 | 69.03 | 2854 |
| HSA-MIR-4708-3P | 99.51 | 67.99 | 870 |
| HSA-MIR-513C-5P | 99.50 | 68.42 | 1730 |
Literature-anchored findings (GeneRIF, showing 7)
- Participation of SRRF (Stromal RNA Regulating Factor) isoforms in post-transcriptional events in bone marrow stromal cells; an important role in regulation of the RNA expression that directs the bone marrow stromal cells differentiation pathway (PMID:15256261)
- identification of heterogeneous ribonucleoprotein L-like (hnRNPLL) as a critical inducible regulator of CD45 alternative splicing (PMID:18669861)
- These data establish that hnRNP LL plays a critical and unique role in the signal-induced regulation of CD45 and demonstrate the utility of cell-based screens for the identification of novel splicing regulatory factors. (PMID:18719244)
- Loss-of-function mutation of hnRNPLL disrupts peripheral T cell accumulation even in the absence of CD45 protein, indicating that hnRNPLL acts through an independent mechanism to promote peripheral T cell longevity. (PMID:20505149)
- The findings demonstrate that the hnRNP L and LL proteins differentially control gene expression programs at multiple levels in the production of two physiologically important hormones. (PMID:29610151)
- intronic editing of HNRPLL generates a novel splicing variant linked to cell proliferation (PMID:29769310)
- MYB mediates downregulation of the colorectal cancer metastasis suppressor heterogeneous nuclear ribonucleoprotein L-like during epithelial-mesenchymal transition. (PMID:34286904)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ENSDARG00000116101 | |
| mus_musculus | Hnrnpll | ENSMUSG00000024095 |
| rattus_norvegicus | Hnrnpll | ENSRNOG00000006929 |
| drosophila_melanogaster | sm | FBGN0003435 |
| caenorhabditis_elegans | WBGENE00016624 |
Paralogs (5): PTBP1 (ENSG00000011304), HNRNPL (ENSG00000104824), PTBP2 (ENSG00000117569), PTBP3 (ENSG00000119314), RBM20 (ENSG00000203867)
Protein
Protein identifiers
Heterogeneous nuclear ribonucleoprotein L-like — Q8WVV9 (reviewed: Q8WVV9)
Alternative names: Stromal RNA-regulating factor
All UniProt accessions (8): Q8WVV9, A0A0S2Z6K1, B7WPG3, C9IYN3, C9JJZ7, H7BXH8, H7C464, V9GYK2
UniProt curated annotations — full annotation on UniProt →
Function. RNA-binding protein that functions as a regulator of alternative splicing for multiple target mRNAs, including PTPRC/CD45 and STAT5A. Required for alternative splicing of PTPRC.
Subunit / interactions. Interacts with HNRNPL.
Tissue specificity. Widely expressed. Detected in bone marrow stroma cells, skeletal muscle, heart, placenta, pancreas, kidney and lung.
Induction. Up-regulated in stimulated T-cells.
Isoforms (5)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8WVV9-1 | 1 | yes |
| Q8WVV9-2 | 2 | |
| Q8WVV9-3 | 3 | |
| Q8WVV9-4 | 4 | |
| Q8WVV9-5 | 5 |
RefSeq proteins (2): NP_001136122, NP_612403* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000504 | RRM_dom | Domain |
| IPR006536 | HnRNP-L/PTB | Family |
| IPR012677 | Nucleotide-bd_a/b_plait_sf | Homologous_superfamily |
| IPR021790 | PTBP1-like_RRM2 | Domain |
| IPR034983 | hnRPLL_RRM3 | Domain |
| IPR034985 | hnRPLL_RRM1 | Domain |
| IPR034986 | hnRPLL_RRM2 | Domain |
| IPR034987 | hnRPLL_RRM4 | Domain |
| IPR035979 | RBD_domain_sf | Homologous_superfamily |
| IPR055204 | HNRNPL_RRM | Domain |
Pfam: PF00076, PF11835, PF13893, PF22976
UniProt features (28 total): splice variant 6, modified residue 5, strand 5, domain 3, cross-link 2, helix 2, compositionally biased region 2, chain 1, turn 1, region of interest 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7EVS | X-RAY DIFFRACTION | 1.6 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8WVV9-F1 | 76.11 | 0.49 |
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 (7): 68, 75, 26, 491, 35, 46, 59
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 217 (showing top):
GSE45365_NK_CELL_VS_CD8A_DC_MCMV_INFECTION_DN, CCAWYNNGAAR_UNKNOWN, GOBP_POSITIVE_REGULATION_OF_RNA_SPLICING, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, BOYLAN_MULTIPLE_MYELOMA_D_DN, MODULE_331, YU_MYC_TARGETS_UP, MARTINEZ_RB1_TARGETS_DN, SCHAEFFER_PROSTATE_DEVELOPMENT_6HR_UP, GOBP_RNA_SPLICING, OCT1_06, MARSON_FOXP3_TARGETS_UP, DODD_NASOPHARYNGEAL_CARCINOMA_UP, NRF2_01, ZHANG_BREAST_CANCER_PROGENITORS_UP
GO Biological Process (3): mRNA processing (GO:0006397), positive regulation of RNA splicing (GO:0033120), regulation of RNA splicing (GO:0043484)
GO Molecular Function (4): RNA binding (GO:0003723), mRNA binding (GO:0003729), nucleic acid binding (GO:0003676), protein binding (GO:0005515)
GO Cellular Component (4): nucleus (GO:0005634), membrane (GO:0016020), synapse (GO:0045202), ribonucleoprotein complex (GO:1990904)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| RNA splicing | 2 |
| binding | 2 |
| RNA processing | 1 |
| mRNA metabolic process | 1 |
| positive regulation of gene expression | 1 |
| regulation of RNA splicing | 1 |
| regulation of gene expression | 1 |
| regulation of primary metabolic process | 1 |
| nucleic acid binding | 1 |
| RNA binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| cellular anatomical structure | 1 |
| cell junction | 1 |
| protein-containing complex | 1 |
Protein interactions and networks
STRING
994 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| HNRNPLL | PTPRC | P08575 | 799 |
| HNRNPLL | HNRNPH1 | P31943 | 612 |
| HNRNPLL | PCBP2 | Q15366 | 610 |
| HNRNPLL | TP53 | P04637 | 582 |
| HNRNPLL | HNRNPC | P07910 | 565 |
| HNRNPLL | SRSF3 | P23152 | 564 |
| HNRNPLL | HNRNPU | Q00839 | 561 |
| HNRNPLL | SRSF5 | Q13243 | 560 |
| HNRNPLL | SRSF4 | Q08170 | 553 |
| HNRNPLL | SRSF6 | Q13247 | 547 |
| HNRNPLL | U2AF2 | P26368 | 546 |
| HNRNPLL | SRSF7 | Q16629 | 545 |
| HNRNPLL | SRSF2 | Q01130 | 531 |
| HNRNPLL | HNRNPDL | O14979 | 523 |
| HNRNPLL | RRM2 | P31350 | 507 |
IntAct
120 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| HNRNPLL | HNRNPK | psi-mi:“MI:0915”(physical association) | 0.720 |
| HNRNPK | HNRNPLL | psi-mi:“MI:0915”(physical association) | 0.720 |
| HNRNPLL | HNRNPK | psi-mi:“MI:0915”(physical association) | 0.670 |
| HNRNPK | HNRNPLL | psi-mi:“MI:0915”(physical association) | 0.670 |
| BOLL | HNRNPLL | psi-mi:“MI:0915”(physical association) | 0.670 |
| QKI | HNRNPLL | psi-mi:“MI:0915”(physical association) | 0.670 |
| MDFI | HNRNPLL | psi-mi:“MI:0915”(physical association) | 0.670 |
| HNRNPLL | BOLL | psi-mi:“MI:0915”(physical association) | 0.670 |
| HNRNPLL | QKI | psi-mi:“MI:0915”(physical association) | 0.670 |
| HNRNPLL | MDFI | psi-mi:“MI:0915”(physical association) | 0.670 |
| DAB1 | HNRNPLL | psi-mi:“MI:0915”(physical association) | 0.560 |
| UBE2I | HNRNPLL | psi-mi:“MI:0915”(physical association) | 0.560 |
| RBPMS | HNRNPLL | psi-mi:“MI:0915”(physical association) | 0.560 |
| RHOXF2 | HNRNPLL | psi-mi:“MI:0915”(physical association) | 0.560 |
| HNRNPLL | THAP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| HNRNPLL | DAB1 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (229): HNRNPLL (Two-hybrid), HNRNPLL (Two-hybrid), HNRNPLL (Two-hybrid), HNRNPLL (Two-hybrid), HNRNPLL (Two-hybrid), HNRNPLL (Two-hybrid), HNRNPLL (Two-hybrid), HNRNPLL (Two-hybrid), HNRNPLL (Two-hybrid), HNRNPLL (Two-hybrid), HNRNPLL (Affinity Capture-MS), HNRNPLL (Affinity Capture-MS), HNRNPLL (Affinity Capture-MS), HNRNPLL (Affinity Capture-MS), CCNB2 (Co-fractionation)
ESM2 similar proteins: A1L1G1, A7MBL8, A8KBF6, B2RYD2, O00560, O08874, O08992, O60733, O94806, P10687, P10894, P29074, P70175, P97570, Q16513, Q28C55, Q3SYX0, Q3US41, Q4R4Q3, Q5PYH7, Q5R8R4, Q5ZLR4, Q62433, Q62936, Q640Z1, Q69YN2, Q6DCD0, Q6DEZ7, Q6DFS4, Q6DIX1, Q6GQL1, Q6JE36, Q6NXG1, Q6P0D7, Q6R005, Q7ZVR8, Q7ZY29, Q8BPM2, Q8BWW9, Q8K0G8
Diamond homologs: F1LQ48, P14866, Q8R081, Q8WVV9, Q921F4, Q9FGL9, Q9MAC5, O95758, P17225, P26599, Q00438, Q29099, Q66H20, Q6ICX4, Q8BHD7, Q8WN55, Q91Z31, Q9UKA9, Q9Z118, E9PT37, P0DW16, P25299, Q3UQS8, Q5T481
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 109 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 | 7 | 9.2× | 5e-03 |
| Processing of Capped Intron-Containing Pre-mRNA | 7 | 8.6× | 5e-03 |
| mRNA Splicing - Major Pathway | 8 | 6.5× | 6e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
60 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 47 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2511 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:38568193:A:AC | donor_gain | 1.0000 |
| 2:38568194:C:CC | donor_gain | 1.0000 |
| 2:38568194:CTTA:C | donor_gain | 1.0000 |
| 2:38568195:TTAC:T | donor_loss | 1.0000 |
| 2:38568196:TACTC:T | donor_loss | 1.0000 |
| 2:38568197:A:AC | donor_gain | 1.0000 |
| 2:38568197:A:C | donor_loss | 1.0000 |
| 2:38568197:ACT:A | donor_gain | 1.0000 |
| 2:38568198:C:CA | donor_gain | 1.0000 |
| 2:38568198:CT:C | donor_gain | 1.0000 |
| 2:38568198:CTC:C | donor_gain | 1.0000 |
| 2:38568198:CTCG:C | donor_gain | 1.0000 |
| 2:38568198:CTCGG:C | donor_gain | 1.0000 |
| 2:38568211:T:C | donor_gain | 1.0000 |
| 2:38568293:TGAAG:T | acceptor_gain | 1.0000 |
| 2:38568294:GAAG:G | acceptor_gain | 1.0000 |
| 2:38568295:AAG:A | acceptor_gain | 1.0000 |
| 2:38568296:AG:A | acceptor_gain | 1.0000 |
| 2:38568298:C:CC | acceptor_gain | 1.0000 |
| 2:38568304:C:CT | acceptor_gain | 1.0000 |
| 2:38568305:A:T | acceptor_gain | 1.0000 |
| 2:38568379:CACTT:C | donor_loss | 1.0000 |
| 2:38568380:ACTT:A | donor_loss | 1.0000 |
| 2:38568381:CT:C | donor_loss | 1.0000 |
| 2:38568382:TTAC:T | donor_loss | 1.0000 |
| 2:38568383:TACG:T | donor_loss | 1.0000 |
| 2:38568384:A:AC | donor_gain | 1.0000 |
| 2:38568384:ACGTT:A | donor_loss | 1.0000 |
| 2:38568385:C:A | donor_loss | 1.0000 |
| 2:38568385:C:CC | donor_gain | 1.0000 |
AlphaMissense
3534 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:38564201:G:A | S537F | 1.000 |
| 2:38564203:A:C | F536L | 1.000 |
| 2:38564203:A:T | F536L | 1.000 |
| 2:38564204:A:G | F536S | 1.000 |
| 2:38564205:A:G | F536L | 1.000 |
| 2:38564206:G:C | C535W | 1.000 |
| 2:38564207:C:T | C535Y | 1.000 |
| 2:38564208:A:G | C535R | 1.000 |
| 2:38564210:A:G | L534P | 1.000 |
| 2:38564210:A:T | L534H | 1.000 |
| 2:38564212:C:A | K533N | 1.000 |
| 2:38564212:C:G | K533N | 1.000 |
| 2:38564214:T:C | K533E | 1.000 |
| 2:38568219:T:G | H518P | 1.000 |
| 2:38568221:A:C | N517K | 1.000 |
| 2:38568221:A:T | N517K | 1.000 |
| 2:38568225:A:G | L516P | 1.000 |
| 2:38568234:A:G | L513P | 1.000 |
| 2:38568234:A:T | L513H | 1.000 |
| 2:38568246:G:T | A509E | 1.000 |
| 2:38568265:A:G | W503R | 1.000 |
| 2:38568265:A:T | W503R | 1.000 |
| 2:38568273:A:G | L500P | 1.000 |
| 2:38568276:C:A | G499V | 1.000 |
| 2:38568276:C:T | G499E | 1.000 |
| 2:38568277:C:A | G499W | 1.000 |
| 2:38568277:C:G | G499R | 1.000 |
| 2:38568277:C:T | G499R | 1.000 |
| 2:38568396:A:C | F488L | 1.000 |
| 2:38568396:A:T | F488L | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000005261 (2:38561575 A>C,T), RS1000120394 (2:38564020 G>A,C,T), RS1000137908 (2:38597754 T>A), RS1000246726 (2:38566942 G>C), RS1000295617 (2:38579448 T>A), RS1000361751 (2:38589037 A>G), RS1000426814 (2:38597473 G>A,C), RS1000440656 (2:38572874 C>T), RS1000471628 (2:38573073 T>C), RS1000528602 (2:38583316 A>G), RS1000602270 (2:38577951 C>G,T), RS1000615800 (2:38578692 C>G), RS1000668811 (2:38579166 G>A), RS1000720691 (2:38593483 G>A), RS1000808322 (2:38571694 T>A)
Disease associations
OMIM: gene MIM:611208 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004904_222 | Body mass index | 9.000000e-09 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004340 | body mass index |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL5724650 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
38 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, decreases expression, decreases methylation | 4 |
| trichostatin A | affects cotreatment, decreases expression | 3 |
| sodium arsenite | decreases expression, increases expression | 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 |
| FR900359 | affects phosphorylation | 1 |
| urushiol | increases expression | 1 |
| ethylbenzene | increases expression | 1 |
| beta-lapachone | decreases expression | 1 |
| perfluorooctanoic acid | increases expression | 1 |
| 2-xylene | increases expression | 1 |
| coumarin | affects phosphorylation | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| bisphenol S | increases methylation | 1 |
| jinfukang | decreases expression | 1 |
| LDN 193189 | affects cotreatment, increases expression | 1 |
| (+)-JQ1 compound | increases expression | 1 |
| Bortezomib | increases expression | 1 |
| Benzene | increases expression | 1 |
| Cadmium | increases abundance, increases expression | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Endosulfan | decreases expression | 1 |
| Enzyme Inhibitors | increases O-linked glycosylation, decreases activity | 1 |
| Ivermectin | decreases expression | 1 |
| Methylene Chloride | increases expression | 1 |
| Oxazolone | increases expression | 1 |
| Phthalic Acids | increases methylation | 1 |
| Quercetin | decreases phosphorylation | 1 |
| Ribonucleotides | affects binding | 1 |
ChEMBL screening assays
7 unique, capped per target: 7 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5651577 | Binding | Binding affinity to human HNRNPLL 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
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_E0EC | Ubigene HeLa HNRNPLL KO | Cancer cell line | Female |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.