DYNLL2
gene geneOn this page
Also known as MGC17810Dlc2DNCL1BRSPH22
Summary
DYNLL2 (dynein light chain LC8-type 2, HGNC:24596) is a protein-coding gene on chromosome 17q22, encoding Dynein light chain 2, cytoplasmic (Q96FJ2). Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 1 complex that are thought to be involved in linking dynein to cargos and to adapter proteins that regulate dynein function.
Predicted to enable dynein intermediate chain binding activity. Predicted to be involved in microtubule-based process. Located in 9+0 non-motile cilium and centrosome. Is active in glutamatergic synapse and postsynapse.
Source: NCBI Gene 140735 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 7 total
- Druggable target: yes
- MANE Select transcript:
NM_080677
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:24596 |
| Approved symbol | DYNLL2 |
| Name | dynein light chain LC8-type 2 |
| Location | 17q22 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MGC17810, Dlc2, DNCL1B, RSPH22 |
| Ensembl gene | ENSG00000264364 |
| Ensembl biotype | protein_coding |
| OMIM | 608942 |
| Entrez | 140735 |
Gene structure
Transcript identifiers
Ensembl transcripts: 6 — 6 protein_coding
ENST00000579991, ENST00000908491, ENST00000908492, ENST00000908493, ENST00000931536, ENST00000945285
RefSeq mRNA: 1 — MANE Select: NM_080677
NM_080677
CCDS: CCDS11601
Canonical transcript exons
ENST00000579991 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000820250 | 58087082 | 58087222 |
| ENSE00001291217 | 58083419 | 58083683 |
| ENSE00002718456 | 58089142 | 58095542 |
Expression profiles
Bgee: expression breadth ubiquitous, 256 present calls, max score 99.19.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 68.4538 / max 598.9114, expressed in 1825 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 161893 | 68.4538 | 1825 |
Top tissues by expression
256 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| medial globus pallidus | UBERON:0002477 | 99.19 | gold quality |
| sperm | CL:0000019 | 98.98 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 98.98 | gold quality |
| globus pallidus | UBERON:0001875 | 98.82 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 98.66 | gold quality |
| oviduct epithelium | UBERON:0004804 | 98.56 | gold quality |
| upper arm skin | UBERON:0004263 | 98.52 | gold quality |
| ileal mucosa | UBERON:0000331 | 98.27 | gold quality |
| pons | UBERON:0000988 | 98.18 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 98.06 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 98.04 | gold quality |
| ventral tegmental area | UBERON:0002691 | 97.95 | gold quality |
| kidney epithelium | UBERON:0004819 | 97.94 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 97.93 | gold quality |
| medulla oblongata | UBERON:0001896 | 97.81 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 97.78 | gold quality |
| dorsal plus ventral thalamus | UBERON:0001897 | 97.66 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 97.62 | gold quality |
| midbrain | UBERON:0001891 | 97.55 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 97.53 | gold quality |
| substantia nigra | UBERON:0002038 | 97.50 | gold quality |
| parietal lobe | UBERON:0001872 | 97.44 | gold quality |
| myocardium | UBERON:0002349 | 97.42 | gold quality |
| postcentral gyrus | UBERON:0002581 | 97.42 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 97.38 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 97.34 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 97.29 | gold quality |
| occipital lobe | UBERON:0002021 | 97.18 | gold quality |
| putamen | UBERON:0001874 | 97.17 | gold quality |
| primary visual cortex | UBERON:0002436 | 97.13 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.18 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
95 targeting DYNLL2, 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-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-4673 | 100.00 | 66.64 | 1490 |
| HSA-MIR-4789-3P | 99.99 | 70.75 | 2484 |
| HSA-MIR-4789-5P | 99.98 | 70.76 | 2721 |
| HSA-MIR-27A-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-27B-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-9985 | 99.98 | 72.11 | 2939 |
| HSA-MIR-4645-5P | 99.98 | 65.81 | 1284 |
| HSA-LET-7F-2-3P | 99.98 | 70.98 | 2588 |
| HSA-MIR-1185-1-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-1185-2-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-128-3P | 99.95 | 71.17 | 2484 |
| HSA-MIR-216A-3P | 99.95 | 71.19 | 2505 |
| HSA-MIR-454-3P | 99.91 | 74.01 | 1925 |
| HSA-MIR-329-3P | 99.91 | 66.56 | 1234 |
| HSA-MIR-362-3P | 99.91 | 66.38 | 1267 |
| HSA-MIR-130A-3P | 99.90 | 73.31 | 1861 |
| HSA-MIR-130B-3P | 99.90 | 73.27 | 1850 |
| HSA-MIR-301A-3P | 99.90 | 73.15 | 1839 |
| HSA-MIR-301B-3P | 99.90 | 73.19 | 1836 |
| HSA-MIR-3666 | 99.90 | 73.24 | 1833 |
| HSA-MIR-4295 | 99.90 | 73.11 | 1838 |
| HSA-MIR-3681-3P | 99.88 | 70.46 | 2254 |
| HSA-MIR-3941 | 99.86 | 70.54 | 2735 |
| HSA-MIR-659-3P | 99.85 | 70.69 | 1620 |
| HSA-MIR-4639-5P | 99.81 | 67.37 | 1028 |
| HSA-MIR-6739-5P | 99.80 | 67.87 | 2806 |
| HSA-MIR-139-5P | 99.80 | 69.50 | 1399 |
| HSA-MIR-5002-5P | 99.76 | 70.84 | 1763 |
| HSA-MIR-623 | 99.76 | 68.16 | 1170 |
Literature-anchored findings (GeneRIF, showing 2)
- the thermodynamic and kinetic fine-tuning of binding of various ligands to DYNLL could have physiological relevance in its interaction network. (PMID:20889982)
- The DYNLL2 binding region, located in an intrinsically disordered domain of the myo5a tail, has a nascent helical character. (PMID:25312846)
Cross-species orthologs
7 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | dynll2b | ENSDARG00000005172 |
| danio_rerio | dynll2a | ENSDARG00000069790 |
| mus_musculus | Dynll2 | ENSMUSG00000020483 |
| rattus_norvegicus | Dynll2 | ENSRNOG00000008921 |
| drosophila_melanogaster | ctp | FBGN0011760 |
| drosophila_melanogaster | Cdlc2 | FBGN0026141 |
| caenorhabditis_elegans | WBGENE00001005 |
Paralogs (1): DYNLL1 (ENSG00000088986)
Protein
Protein identifiers
Dynein light chain 2, cytoplasmic — Q96FJ2 (reviewed: Q96FJ2)
Alternative names: 8 kDa dynein light chain b, Dynein light chain LC8-type 2
All UniProt accessions (1): Q96FJ2
UniProt curated annotations — full annotation on UniProt →
Function. Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 1 complex that are thought to be involved in linking dynein to cargos and to adapter proteins that regulate dynein function. Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along microtubules. May play a role in changing or maintaining the spatial distribution of cytoskeletal structures.
Subunit / interactions. Homodimer. The cytoplasmic dynein 1 complex consists of two catalytic heavy chains (HCs) and a number of non-catalytic subunits which present intermediate chains (ICs), light intermediate chains (LICs) and light chains (LCs); the composition seems to vary in respect to the IC, LIC and LC composition. The heavy chain homodimer serves as a scaffold for the probable homodimeric assembly of the respective non-catalytic subunits. Dynein ICs and LICs bind directly to the HC dimer and the LCs assemble on the IC dimer. Interacts with DYNC1I1. Interacts with BMF. Component of the myosin V motor complex. Interacts with BCAS1. Interacts with Basson/BSN. Interacts with AMBRA1 (via TQT motifs); tethering AMBRA1 to the cytoskeleton. Interacts with IQUB.
Subcellular location. Cytoplasm. Cytoskeleton.
Similarity. Belongs to the dynein light chain family.
RefSeq proteins (1): NP_542408* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001372 | Dynein_light_chain_typ-1/2 | Family |
| IPR019763 | Dynein_light_1/2_CS | Conserved_site |
| IPR037177 | DLC_sf | Homologous_superfamily |
Pfam: PF01221
UniProt features (9 total): strand 4, helix 2, chain 1, site 1, turn 1
Structure
Experimental structures (PDB)
4 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2XQQ | X-RAY DIFFRACTION | 1.31 |
| 4D07 | X-RAY DIFFRACTION | 1.85 |
| 7CNU | X-RAY DIFFRACTION | 2 |
| 3P8M | X-RAY DIFFRACTION | 2.9 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96FJ2-F1 | 95.73 | 0.94 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (1): 41 (interaction with myosin v motor complex)
Function
Pathways and Gene Ontology
Reactome pathways
15 pathways
| ID | Pathway |
|---|---|
| R-HSA-139910 | Activation of BMF and translocation to mitochondria |
| R-HSA-141444 | Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal |
| R-HSA-1632852 | Macroautophagy |
| R-HSA-2132295 | MHC class II antigen presentation |
| R-HSA-2467813 | Separation of Sister Chromatids |
| R-HSA-2500257 | Resolution of Sister Chromatid Cohesion |
| R-HSA-3371497 | HSP90 chaperone cycle for steroid hormone receptors (SHR) in the presence of ligand |
| R-HSA-5620924 | Intraflagellar transport |
| R-HSA-5663220 | RHO GTPases Activate Formins |
| R-HSA-6807878 | COPI-mediated anterograde transport |
| R-HSA-6811436 | COPI-independent Golgi-to-ER retrograde traffic |
| R-HSA-68877 | Mitotic Prometaphase |
| R-HSA-9609690 | HCMV Early Events |
| R-HSA-9646399 | Aggrephagy |
| R-HSA-9648025 | EML4 and NUDC in mitotic spindle formation |
MSigDB gene sets: 283 (showing top):
GSE18804_BRAIN_VS_COLON_TUMORAL_MACROPHAGE_DN, GOBP_CHROMOSOME_ORGANIZATION, GOBP_REGULATION_OF_CELL_CYCLE_CHECKPOINT, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, GOBP_REGULATION_OF_NUCLEAR_DIVISION, GOBP_CELL_CYCLE_PHASE_TRANSITION, ACEVEDO_NORMAL_TISSUE_ADJACENT_TO_LIVER_TUMOR_DN, GOBP_CHROMOSOME_SEPARATION, REACTOME_MEMBRANE_TRAFFICKING, GOCC_MICROTUBULE_ORGANIZING_CENTER, MONNIER_POSTRADIATION_TUMOR_ESCAPE_UP, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION, GOBP_POSITIVE_REGULATION_OF_INTRACELLULAR_TRANSPORT, SENESE_HDAC1_AND_HDAC2_TARGETS_DN, WEI_MYCN_TARGETS_WITH_E_BOX
GO Biological Process (1): microtubule-based process (GO:0007017)
GO Molecular Function (5): identical protein binding (GO:0042802), protein-containing complex binding (GO:0044877), dynein intermediate chain binding (GO:0045505), scaffold protein binding (GO:0097110), protein binding (GO:0005515)
GO Cellular Component (19): nucleus (GO:0005634), centrosome (GO:0005813), cytosol (GO:0005829), cytoskeleton (GO:0005856), cytoplasmic dynein complex (GO:0005868), microtubule (GO:0005874), plasma membrane (GO:0005886), cilium (GO:0005929), postsynaptic density (GO:0014069), membrane (GO:0016020), myosin V complex (GO:0031475), ciliary tip (GO:0097542), 9+0 non-motile cilium (GO:0097731), postsynapse (GO:0098794), glutamatergic synapse (GO:0098978), cytoplasm (GO:0005737), microtubule associated complex (GO:0005875), microtubule cytoskeleton (GO:0015630), dynein complex (GO:0030286)
Reactome top-level categories
Rollup of top-14 pathways:
| Category | Pathways |
|---|---|
| Mitotic Prometaphase | 2 |
| Activation of BH3-only proteins | 1 |
| Amplification of signal from the kinetochores | 1 |
| Autophagy | 1 |
| Adaptive Immune System | 1 |
| Mitotic Anaphase | 1 |
| Cellular responses to stress | 1 |
| Assembly of the 9+0 primary cilium | 1 |
| RHO GTPase Effectors | 1 |
| ER to Golgi Anterograde Transport | 1 |
| Golgi-to-ER retrograde transport | 1 |
| M Phase | 1 |
| HCMV Infection | 1 |
| Selective autophagy | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 5 |
| protein binding | 3 |
| binding | 2 |
| microtubule cytoskeleton | 2 |
| synapse | 2 |
| cellular process | 1 |
| intracellular membrane-bounded organelle | 1 |
| centriole | 1 |
| microtubule organizing center | 1 |
| cytoplasm | 1 |
| intracellular membraneless organelle | 1 |
| dynein complex | 1 |
| polymeric cytoskeletal fiber | 1 |
| membrane | 1 |
| cell periphery | 1 |
| intraciliary transport particle | 1 |
| membrane-bounded organelle | 1 |
| plasma membrane bounded cell projection | 1 |
| asymmetric synapse | 1 |
| postsynaptic specialization | 1 |
| unconventional myosin complex | 1 |
| cilium | 1 |
| non-motile cilium | 1 |
| intracellular anatomical structure | 1 |
| protein-containing complex | 1 |
| cytoskeleton | 1 |
| microtubule associated complex | 1 |
| catalytic complex | 1 |
Protein interactions and networks
STRING
2518 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| DYNLL2 | DYNLT3 | P51808 | 825 |
| DYNLL2 | DYNLRB2 | Q8TF09 | 794 |
| DYNLL2 | DYNLRB1 | Q9NP97 | 785 |
| DYNLL2 | DYNC2I2 | Q96EX3 | 784 |
| DYNLL2 | DYNLT1 | P63172 | 769 |
| DYNLL2 | DYNC2LI1 | Q8TCX1 | 751 |
| DYNLL2 | DYNC1H1 | Q14204 | 695 |
| DYNLL2 | GPHN | Q9NQX3 | 686 |
| DYNLL2 | DYNLT2B | Q8WW35 | 642 |
| DYNLL2 | DYNC2I1 | Q8WVS4 | 631 |
| DYNLL2 | DYNC1I1 | O14576 | 628 |
| DYNLL2 | DYNC1I2 | Q13409 | 628 |
| DYNLL2 | DYNC1LI2 | O43237 | 627 |
| DYNLL2 | SYP | P08247 | 582 |
| DYNLL2 | DYNC1LI1 | Q9Y6G9 | 571 |
IntAct
216 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CSNK1A1 | FAM83G | psi-mi:“MI:0914”(association) | 0.900 |
| OFD1 | DYNLL1 | psi-mi:“MI:0914”(association) | 0.890 |
| FAM117B | DYNLL2 | psi-mi:“MI:0915”(physical association) | 0.880 |
| DYNLL2 | XIAP | psi-mi:“MI:0915”(physical association) | 0.850 |
| DYNLL2 | TLK1 | psi-mi:“MI:0915”(physical association) | 0.840 |
| DNAL4 | DYNLL2 | psi-mi:“MI:0915”(physical association) | 0.800 |
| DYNLL2 | HMBOX1 | psi-mi:“MI:0915”(physical association) | 0.800 |
| HMBOX1 | DYNLL2 | psi-mi:“MI:0915”(physical association) | 0.800 |
| DYNLL2 | DNAL4 | psi-mi:“MI:0915”(physical association) | 0.800 |
| DYNLL2 | HOMER3 | psi-mi:“MI:0915”(physical association) | 0.800 |
| KANK2 | DYNLL2 | psi-mi:“MI:0915”(physical association) | 0.800 |
| HOMER3 | DYNLL2 | psi-mi:“MI:0915”(physical association) | 0.800 |
| SECISBP2L | DYNLL2 | psi-mi:“MI:0915”(physical association) | 0.740 |
| DYNLL2 | SECISBP2L | psi-mi:“MI:0915”(physical association) | 0.740 |
| STRN4 | STRN | psi-mi:“MI:0914”(association) | 0.730 |
| TLK1 | DYNLL1 | psi-mi:“MI:0914”(association) | 0.730 |
| DYNLL1 | BLTP3B | psi-mi:“MI:0914”(association) | 0.730 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| LCA5 | SSNA1 | psi-mi:“MI:0914”(association) | 0.700 |
| MORN3 | DYNLL2 | psi-mi:“MI:0915”(physical association) | 0.670 |
BioGRID (436): DYNLL2 (Two-hybrid), DYNLL2 (Two-hybrid), DYNLL2 (Two-hybrid), DYNLL2 (Two-hybrid), DYNLL2 (Two-hybrid), DYNLL2 (Two-hybrid), DYNLL2 (Two-hybrid), MORN3 (Two-hybrid), C12orf40 (Two-hybrid), CCDC36 (Two-hybrid), DYNLL2 (Affinity Capture-MS), DYNLL2 (Affinity Capture-MS), DYNLL2 (Two-hybrid), DYNLL2 (Two-hybrid), DYNLL2 (Two-hybrid)
ESM2 similar proteins: A0A3Q7I7R4, A7YW45, O02414, O14744, O77210, O94111, O96860, P22953, P25840, P26639, P27322, P48612, P61273, P61285, P63167, P63168, P63169, P63170, Q02647, Q03389, Q16WA6, Q21557, Q22799, Q24117, Q39580, Q3MHR3, Q3ZBV8, Q4R5M3, Q58DV0, Q5R698, Q5RCE3, Q5U567, Q5XHY5, Q5XIP1, Q5ZK01, Q6BZF8, Q6CWX4, Q6FUJ0, Q6NUA1, Q759T0
Diamond homologs: A4F4L4, O02414, O94111, O96015, O96860, P61273, P61285, P63167, P63168, P63169, P63170, Q02647, Q22799, Q24117, Q32KN5, Q39580, Q3MHR3, Q6BZF8, Q6CWX4, Q6FUJ0, Q759T0, Q78P75, Q86A88, Q94758, Q96FJ2, Q9D0M5, Q9DCM4, Q9UR05, Q21557, Q39579, Q94748
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| DYNLL2 | down-regulates | AMBRA1 | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 151 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 |
|---|---|---|---|
| Aggrephagy | 7 | 18.9× | 1e-05 |
| Regulation of PLK1 Activity at G2/M Transition | 12 | 16.6× | 4e-09 |
| AURKA Activation by TPX2 | 9 | 14.9× | 2e-06 |
| Loss of Nlp from mitotic centrosomes | 8 | 13.8× | 1e-05 |
| Loss of proteins required for interphase microtubule organization from the centrosome | 8 | 13.8× | 1e-05 |
| Recruitment of mitotic centrosome proteins and complexes | 8 | 11.8× | 3e-05 |
| COPI-independent Golgi-to-ER retrograde traffic | 5 | 11.3× | 4e-03 |
| Anchoring of the basal body to the plasma membrane | 9 | 11.1× | 1e-05 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| protein phosphorylation | 10 | 5.3× | 8e-03 |
| cell division | 12 | 4.3× | 8e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
7 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 5 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
492 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:58084308:G:GT | donor_gain | 1.0000 |
| 17:58087077:T:TA | acceptor_gain | 1.0000 |
| 17:58087077:TGTA:T | acceptor_loss | 1.0000 |
| 17:58087078:GTA:G | acceptor_loss | 1.0000 |
| 17:58087079:TAG:T | acceptor_loss | 1.0000 |
| 17:58087080:A:AG | acceptor_gain | 1.0000 |
| 17:58087080:A:G | acceptor_loss | 1.0000 |
| 17:58087080:AGT:A | acceptor_gain | 1.0000 |
| 17:58087081:G:GA | acceptor_gain | 1.0000 |
| 17:58087081:GT:G | acceptor_gain | 1.0000 |
| 17:58087081:GTG:G | acceptor_gain | 1.0000 |
| 17:58087081:GTGT:G | acceptor_gain | 1.0000 |
| 17:58087081:GTGTC:G | acceptor_gain | 1.0000 |
| 17:58087180:G:GT | donor_gain | 1.0000 |
| 17:58087199:G:GT | donor_gain | 1.0000 |
| 17:58087219:G:GT | donor_gain | 1.0000 |
| 17:58087219:GAAG:G | donor_gain | 1.0000 |
| 17:58087220:A:T | donor_gain | 1.0000 |
| 17:58087222:GG:G | donor_loss | 1.0000 |
| 17:58089368:G:GT | donor_gain | 1.0000 |
| 17:58083595:G:GT | donor_gain | 0.9900 |
| 17:58083683:GGT:G | donor_loss | 0.9900 |
| 17:58083684:GTGAG:G | donor_loss | 0.9900 |
| 17:58084317:GTGT:G | donor_gain | 0.9900 |
| 17:58087183:G:GG | donor_gain | 0.9900 |
| 17:58087195:G:GT | donor_gain | 0.9900 |
| 17:58089136:TTTTA:T | acceptor_loss | 0.9900 |
| 17:58089137:TTTAG:T | acceptor_loss | 0.9900 |
| 17:58089138:TTA:T | acceptor_loss | 0.9900 |
| 17:58089139:TAGGA:T | acceptor_loss | 0.9900 |
AlphaMissense
601 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 17:58087206:C:A | A39D | 1.000 |
| 17:58087219:G:C | K43N | 1.000 |
| 17:58087219:G:T | K43N | 1.000 |
| 17:58089169:T:A | W54R | 1.000 |
| 17:58089169:T:C | W54R | 1.000 |
| 17:58089175:T:C | C56R | 1.000 |
| 17:58089176:G:A | C56Y | 1.000 |
| 17:58089177:T:G | C56W | 1.000 |
| 17:58089184:G:C | G59R | 1.000 |
| 17:58089184:G:T | G59C | 1.000 |
| 17:58089185:G:A | G59D | 1.000 |
| 17:58089185:G:T | G59V | 1.000 |
| 17:58089193:T:C | F62L | 1.000 |
| 17:58089195:T:A | F62L | 1.000 |
| 17:58089195:T:G | F62L | 1.000 |
| 17:58089197:G:A | G63D | 1.000 |
| 17:58089206:T:A | V66D | 1.000 |
| 17:58089211:C:G | H68D | 1.000 |
| 17:58089260:T:C | L84P | 1.000 |
| 17:58089265:T:C | F86L | 1.000 |
| 17:58089267:C:A | F86L | 1.000 |
| 17:58089267:C:G | F86L | 1.000 |
| 17:58087117:G:C | K9N | 0.999 |
| 17:58087117:G:T | K9N | 0.999 |
| 17:58087151:G:C | A21P | 0.999 |
| 17:58087163:G:C | A25P | 0.999 |
| 17:58087164:C:A | A25D | 0.999 |
| 17:58087217:A:G | K43E | 0.999 |
| 17:58087218:A:T | K43M | 0.999 |
| 17:58089148:G:C | D47H | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000743691 (17:58090587 A>G), RS1001340612 (17:58091970 C>T), RS1001392536 (17:58091569 G>T), RS1001570314 (17:58085826 G>A), RS1002012086 (17:58089493 AT>A,ATT), RS1002110391 (17:58084033 G>A), RS1002183521 (17:58095007 G>A), RS1002278200 (17:58095271 T>C), RS1002344366 (17:58090556 G>A), RS1002400133 (17:58090294 G>A), RS1002947483 (17:58082277 A>G), RS1003008967 (17:58093475 A>G), RS1003286236 (17:58086944 C>G,T), RS1003293342 (17:58092576 C>T), RS1003496690 (17:58083371 G>A,C,T)
Disease associations
OMIM: gene MIM:608942 | 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 |
|---|---|---|
| GCST006585_1709 | Blood protein levels | 3.000000e-10 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6067226 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
4 potent at pChembl≥5 of 4 total, top 4 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 7.09 | Kd | 80.89 | nM | CHEMBL3752910 |
| 6.83 | ED50 | 148 | nM | CHEMBL3752910 |
| 6.60 | Kd | 250.5 | nM | CHEMBL5653589 |
| 6.34 | ED50 | 458.5 | nM | CHEMBL5653589 |
PubChem BioAssay actives
2 with measured affinity, of 4 total; 2 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-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2148275: Binding affinity to human DYNLL2 incubated for 45 mins by Kinobead based pull down assay | kd | 0.0809 | uM |
| 4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2148275: Binding affinity to human DYNLL2 incubated for 45 mins by Kinobead based pull down assay | kd | 0.2505 | uM |
CTD chemical–gene interactions
37 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | increases reaction, increases expression, affects binding | 3 |
| bisphenol A | increases expression | 2 |
| Leflunomide | decreases expression | 2 |
| Valproic Acid | affects expression, increases expression | 2 |
| Aflatoxin B1 | increases expression, decreases methylation | 2 |
| triphenyl phosphate | affects expression | 1 |
| lead acetate | increases expression | 1 |
| benzo(e)pyrene | decreases methylation | 1 |
| aflatoxin B2 | increases methylation | 1 |
| cupric chloride | increases expression | 1 |
| resorcinol | decreases expression | 1 |
| beta-methylcholine | affects expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| nutlin 3 | affects cotreatment, increases secretion | 1 |
| bisphenol S | increases expression | 1 |
| LDN 193189 | affects cotreatment, increases expression | 1 |
| (+)-JQ1 compound | increases expression | 1 |
| Temozolomide | increases expression | 1 |
| Arsenic | affects expression | 1 |
| Benzo(a)pyrene | increases expression | 1 |
| Copper | affects binding, decreases expression | 1 |
| Dactinomycin | affects cotreatment, increases secretion | 1 |
| Disulfiram | affects binding, decreases expression | 1 |
| Colforsin | increases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Methapyrilene | decreases methylation | 1 |
| Phenobarbital | affects expression | 1 |
| Phthalic Acids | increases methylation | 1 |
| Smoke | 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 |
|---|---|---|---|
| CHEMBL5651317 | Binding | Binding affinity to human DYNLL2 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)
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.