DYNC1LI2

Summary

DYNC1LI2 (dynein cytoplasmic 1 light intermediate chain 2, HGNC:2966) is a protein-coding gene on chromosome 16q22.1, encoding Cytoplasmic dynein 1 light intermediate chain 2 (O43237). 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 is a microtubule-associated motor protein (Hughes et al., 1995 [PubMed 7738094]). See DYNC1H1 (MIM 600112) for general information about dyneins.

Source: NCBI Gene 1783 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 66 total
• Druggable target: yes
• MANE Select transcript: NM_006141

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:2966
Approved symbol	DYNC1LI2
Name	dynein cytoplasmic 1 light intermediate chain 2
Location	16q22.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000135720
Ensembl biotype	protein_coding
OMIM	611406
Entrez	1783

Gene structure

Transcript identifiers

Ensembl transcripts: 25 — 16 protein_coding, 5 retained_intron, 3 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000258198, ENST00000440564, ENST00000443351, ENST00000561727, ENST00000563628, ENST00000564090, ENST00000564559, ENST00000564833, ENST00000565532, ENST00000566150, ENST00000567499, ENST00000568180, ENST00000568453, ENST00000569320, ENST00000570201, ENST00000868549, ENST00000868550, ENST00000868551, ENST00000868552, ENST00000868553, ENST00000868554, ENST00000868555, ENST00000868556, ENST00000915035, ENST00000970594

RefSeq mRNA: 3 — MANE Select: NM_006141 NM_001286157, NM_001323955, NM_006141

CCDS: CCDS10818, CCDS67049

Canonical transcript exons

ENST00000258198 — 13 exons

Exon	Start	End
ENSE00001207122	66736075	66736244
ENSE00001207133	66751273	66751346
ENSE00001207136	66720893	66723822
ENSE00001301043	66751485	66751609
ENSE00002299487	66732339	66732474
ENSE00003488745	66734218	66734311
ENSE00003522117	66742438	66742668
ENSE00003522244	66725828	66725944
ENSE00003532464	66749197	66749313
ENSE00003571863	66728201	66728242
ENSE00003593463	66727688	66727805
ENSE00003601174	66729040	66729099
ENSE00003648644	66730112	66730223

Expression profiles

Bgee: expression breadth ubiquitous, 302 present calls, max score 99.74.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 52.7679 / max 660.3458, expressed in 1824 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
157716	50.1997	1824
157717	2.2470	1167
157713	0.3212	101

Top tissues by expression

302 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
endothelial cell	CL:0000115	99.74	gold quality
inferior vagus X ganglion	UBERON:0005363	99.70	gold quality
substantia nigra pars reticulata	UBERON:0001966	99.67	gold quality
globus pallidus	UBERON:0001875	99.66	gold quality
subthalamic nucleus	UBERON:0001906	99.66	gold quality
lateral globus pallidus	UBERON:0002476	99.66	gold quality
medial globus pallidus	UBERON:0002477	99.65	gold quality
substantia nigra pars compacta	UBERON:0001965	99.64	gold quality
Brodmann (1909) area 23	UBERON:0013554	99.63	gold quality
superior vestibular nucleus	UBERON:0007227	99.57	gold quality
pons	UBERON:0000988	99.52	gold quality
lateral nuclear group of thalamus	UBERON:0002736	99.51	gold quality
medulla oblongata	UBERON:0001896	99.48	gold quality
ventral tegmental area	UBERON:0002691	99.45	gold quality
middle temporal gyrus	UBERON:0002771	99.44	gold quality
postcentral gyrus	UBERON:0002581	99.42	gold quality
parietal lobe	UBERON:0001872	99.39	gold quality
entorhinal cortex	UBERON:0002728	99.38	gold quality
corpus callosum	UBERON:0002336	99.34	gold quality
visceral pleura	UBERON:0002401	99.34	gold quality
dorsal plus ventral thalamus	UBERON:0001897	99.32	gold quality
tendon of biceps brachii	UBERON:0008188	99.29	gold quality
parietal pleura	UBERON:0002400	99.26	gold quality
cranial nerve II	UBERON:0000941	99.19	gold quality
parotid gland	UBERON:0001831	99.13	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	99.13	gold quality
trigeminal ganglion	UBERON:0001675	99.11	gold quality
mucosa of sigmoid colon	UBERON:0004993	99.07	gold quality
seminal vesicle	UBERON:0000998	98.89	gold quality
spinal cord	UBERON:0002240	98.87	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	10.90

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

222 targeting DYNC1LI2, 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-3163	100.00	77.23	8605
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-33A-5P	99.99	68.62	1055
HSA-MIR-33B-5P	99.99	68.58	1062
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-3667-3P	99.99	67.17	1636
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-3692-3P	99.98	70.27	2139
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-103A-3P	99.98	69.14	1595
HSA-MIR-107	99.98	69.14	1595
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-548AN	99.97	70.91	2817
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-302E	99.96	70.74	2669
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-548AB	99.95	71.31	3488
HSA-MIR-559	99.95	72.28	3609

Literature-anchored findings (GeneRIF, showing 8)

• FIP3 was identified as the first membrane-associated interacting-partner for DLIC-2. (PMID:20214888)
• using a variety of complementary approaches, our results indicate a novel specific role for the LICs in dynein recruitment to components of the late endocytic pathway. (PMID:21169557)
• although dynein lacking light intermediate chains (LICs) drives microtubule gliding at normal rates, the LICs are required for the formation and maintenance of a bipolar spindle. (PMID:25422374)
• These results suggest that cytoplasmic dynein 1 binds to BRCA2 through the latter’s centrosomal localization signal and BRCA2 mediates the cohesion between centrosomes during the S phase, potentially serving as a cell-cycle checkpoint. (PMID:27433848)
• This study uncovers a novel functional hierarchy during mitotic checkpoint inactivation between the closely related but homologous LIC subunits of cytoplasmic dynein. (PMID:27441562)
• Cortically localized dynein, essential for maintaining correct spindle orientation, consists majorly of LIC2-dynein, which interacts with cortical 14-3-3 epsilon- zeta and Par3, conserved proteins required for orienting the spindle. (PMID:28003657)
• Transgelin-2 and phosphoregulation of the LIC2 subunit of dynein govern mitotic spindle orientation. (PMID:32467330)
• DYNC1LI2 regulates localization of the chaperone-mediated autophagy receptor LAMP2A and improves cellular homeostasis in cystinosis. (PMID:34643468)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	dync1li2	ENSDARG00000035924
mus_musculus	Dync1li2	ENSMUSG00000035770
rattus_norvegicus	Dync1li2	ENSRNOG00000025791
drosophila_melanogaster	Dlic	FBGN0030276
caenorhabditis_elegans		WBGENE00001007

Paralogs (1): DYNC1LI1 (ENSG00000144635)

Protein

Protein identifiers

Cytoplasmic dynein 1 light intermediate chain 2 — O43237 (reviewed: O43237)

Alternative names: Dynein light intermediate chain 2, cytosolic, LIC53/55

All UniProt accessions (8): B4E2E0, O43237, H3BU48, H3BUM4, J3KRI4, J3KRZ2, J3KSD2, J3QKK5

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 binding dynein to membranous organelles or chromosomes.

Subunit / interactions. Homodimer. The cytoplasmic dynein 1 complex consists of two catalytic heavy chains (HCs) and a number of non-catalytic subunits presented by 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. The ICs and LICs bind directly to the HC dimer and the LCs assemble on the IC dimer. Interacts with DYNC1H1; DYNC1LI1 and DYNC1LI2 bind mutually exclusive to DYNC1H.

Subcellular location. Cytoplasm. Cytoskeleton.

Similarity. Belongs to the dynein light intermediate chain family.

Isoforms (2)

UniProt ID	Names	Canonical?
O43237-1	1	yes
O43237-2	2

RefSeq proteins (3): NP_001273086, NP_001310884, NP_006132* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR008467	Dynein1_light_intermed_chain	Family
IPR022780	Dynein_light_int_chain	Family
IPR027417	P-loop_NTPase	Homologous_superfamily

Pfam: PF05783

UniProt features (44 total): helix 12, strand 12, modified residue 7, compositionally biased region 5, region of interest 3, chain 1, splice variant 1, sequence conflict 1, turn 1, binding site 1

Structure

Experimental structures (PDB)

23 structures.

PDB	Method	Resolution (Å)
7Z8I	ELECTRON MICROSCOPY	3.3
6F1Y	ELECTRON MICROSCOPY	3.4
6F1T	ELECTRON MICROSCOPY	3.5
9BLY	ELECTRON MICROSCOPY	3.5
8PR2	ELECTRON MICROSCOPY	3.8
8PR3	ELECTRON MICROSCOPY	3.9
7Z8J	ELECTRON MICROSCOPY	3.93
7Z8K	ELECTRON MICROSCOPY	4.37
9E28	ELECTRON MICROSCOPY	4.4
9E12	ELECTRON MICROSCOPY	4.5
9E13	ELECTRON MICROSCOPY	4.5
7Z8L	ELECTRON MICROSCOPY	4.9
9E14	ELECTRON MICROSCOPY	5
9YNH	ELECTRON MICROSCOPY	5.5
9E23	ELECTRON MICROSCOPY	6.2
9HHL	ELECTRON MICROSCOPY	6.53
6F38	ELECTRON MICROSCOPY	6.7
6F3A	ELECTRON MICROSCOPY	8.2
8PR1	ELECTRON MICROSCOPY	8.2
9YNE	ELECTRON MICROSCOPY	8.46
8PR0	ELECTRON MICROSCOPY	9.4
8PTK	ELECTRON MICROSCOPY	10
7Z8F	ELECTRON MICROSCOPY	20

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O43237-F1	62.62	0.01

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Ligand- & substrate-binding residues (1): 61–68

Post-translational modifications (7): 194, 383, 391, 397, 441, 443, 446

Function

Pathways and Gene Ontology

Reactome pathways

12 pathways

ID	Pathway
R-HSA-141444	Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
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-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: 289 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_BRAIN_TUMORAL_MACROPHAGE_DN, GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_DN, GCM_MAP4K4, chr16q22, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, ASTON_MAJOR_DEPRESSIVE_DISORDER_DN, ATGCAGT_MIR217, REACTOME_MEMBRANE_TRAFFICKING, GOCC_MICROTUBULE_ORGANIZING_CENTER, MONNIER_POSTRADIATION_TUMOR_ESCAPE_UP, GOBP_RESPONSE_TO_NERVE_GROWTH_FACTOR, GOBP_POSITIVE_REGULATION_OF_INTRACELLULAR_TRANSPORT, MAHAJAN_RESPONSE_TO_IL1A_DN, WANG_LMO4_TARGETS_DN

GO Biological Process (5): microtubule cytoskeleton organization (GO:0000226), microtubule-based movement (GO:0007018), positive regulation of intracellular transport (GO:0032388), centrosome localization (GO:0051642), cellular response to nerve growth factor stimulus (GO:1990090)

GO Molecular Function (4): ATP binding (GO:0005524), identical protein binding (GO:0042802), dynein heavy chain binding (GO:0045504), nucleotide binding (GO:0000166)

GO Cellular Component (10): kinetochore (GO:0000776), late endosome (GO:0005770), centrosome (GO:0005813), cytosol (GO:0005829), cytoplasmic dynein complex (GO:0005868), microtubule (GO:0005874), membrane (GO:0016020), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), dynein complex (GO:0030286)

Reactome top-level categories

Rollup of top-11 pathways:

Category	Pathways
Mitotic Prometaphase	2
Amplification of signal from the kinetochores	1
Adaptive Immune System	1
Mitotic Anaphase	1
Cellular responses to stress	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	3
microtubule-based process	2
protein binding	2
intracellular membraneless organelle	2
cytoskeleton organization	1
regulation of intracellular transport	1
intracellular transport	1
positive regulation of cellular process	1
positive regulation of transport	1
microtubule organizing center localization	1
cellular response to growth factor stimulus	1
response to nerve growth factor	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
condensed chromosome, centromeric region	1
supramolecular complex	1
endosome	1
centriole	1
microtubule organizing center	1
cytoplasm	1
dynein complex	1
microtubule cytoskeleton	1
polymeric cytoskeletal fiber	1
intracellular anatomical structure	1
microtubule associated complex	1
catalytic complex	1

Protein interactions and networks

STRING

1440 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DYNC1LI2	DYNC1H1	Q14204	982
DYNC1LI2	DYNLRB1	Q9NP97	835
DYNC1LI2	VPS4A	Q9UN37	824
DYNC1LI2	DYNC1I1	O14576	779
DYNC1LI2	DYNLL1	P63167	777
DYNC1LI2	DYNC1I2	Q13409	776
DYNC1LI2	DCTN6	O00399	756
DYNC1LI2	DYNC1LI1	Q9Y6G9	732
DYNC1LI2	DYNLT1	P63172	710
DYNC1LI2	DYNLT3	P51808	683
DYNC1LI2	DYNC2LI1	Q8TCX1	669
DYNC1LI2	PCNT	O95613	635
DYNC1LI2	DYNLL2	Q96FJ2	627
DYNC1LI2	DYNLRB2	Q8TF09	615
DYNC1LI2	TRAK1	Q9UPV9	539

IntAct

80 interactions, top by confidence:

A	B	Type	Score
DYNLL1	BLTP3B	psi-mi:“MI:0914”(association)	0.730
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
DYNC1I2	DYNC1LI2	psi-mi:“MI:0914”(association)	0.680
DYNLT1	DYNC1LI2	psi-mi:“MI:0914”(association)	0.640
DYNLL2	BLTP3B	psi-mi:“MI:0914”(association)	0.640
DYNC1H1	DYNC1LI2	psi-mi:“MI:0914”(association)	0.530
DYNC1LI1	DYNC1LI2	psi-mi:“MI:0914”(association)	0.530
GLMN	MGST3	psi-mi:“MI:0914”(association)	0.530
Dynll1		psi-mi:“MI:0915”(physical association)	0.400
Dync1h1	DYNLT3	psi-mi:“MI:0915”(physical association)	0.400
Dync1i2	DYNLT3	psi-mi:“MI:0915”(physical association)	0.400
Cenpe	BBX	psi-mi:“MI:0914”(association)	0.350
Dync1li1	SSR3	psi-mi:“MI:0914”(association)	0.350
Dynlrb1	DYNC1LI2	psi-mi:“MI:0914”(association)	0.350
Pafah1b1	ATXN3	psi-mi:“MI:0914”(association)	0.350

BioGRID (227): DYNC1LI2 (Affinity Capture-MS), DYNC1LI2 (Affinity Capture-MS), DYNC1H1 (Co-fractionation), DYNC1LI2 (Co-fractionation), DYNC1LI2 (Co-fractionation), DYNLT1 (Co-fractionation), DYNC1LI2 (Affinity Capture-MS), DYNC1LI2 (Proximity Label-MS), DYNC1LI2 (Proximity Label-MS), DYNC1LI2 (Proximity Label-MS), DYNC1LI2 (Affinity Capture-MS), DYNC1LI2 (Affinity Capture-MS), DYNC1LI2 (Affinity Capture-MS), DYNC1LI2 (Affinity Capture-MS), DYNC1LI2 (Affinity Capture-MS)

ESM2 similar proteins: A0A4X1TB62, A4VCH4, G3V7Q0, O14795, O35841, O43237, O70585, P23116, P48553, Q0P5J8, Q14152, Q15542, Q1JU68, Q3TLI0, Q3UHE1, Q4R5P6, Q5R660, Q5R7S4, Q5R7U7, Q5RE09, Q5RE70, Q5VSL9, Q5XI83, Q658Y4, Q68E01, Q6IQ26, Q6PAL8, Q6PDL0, Q6TEP1, Q6WKZ8, Q7SYD9, Q7TPD0, Q8BIK4, Q8BWQ6, Q8C079, Q8C092, Q8C9H6, Q8CBY8, Q8IWV8, Q8K400

Diamond homologs: O43237, Q4R5P6, Q54CI8, Q5RE09, Q62698, Q6PDL0, Q8R1Q8, Q90828, Q9QXU8, Q9Y6G9

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 81 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	10	52.8×	6e-13
COPI-independent Golgi-to-ER retrograde traffic	10	44.2×	2e-12
HSP90 chaperone cycle for steroid hormone receptors (SHR) in the presence of ligand	9	37.1×	1e-10
Loss of Nlp from mitotic centrosomes	7	23.6×	4e-07
Loss of proteins required for interphase microtubule organization from the centrosome	7	23.6×	4e-07
AURKA Activation by TPX2	7	22.7×	4e-07
Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal	9	22.3×	7e-09
EML4 and NUDC in mitotic spindle formation	11	21.7×	1e-10

GO biological processes:

GO term	Partners	Fold	FDR
cell division	8	5.9×	4e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

66 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	49
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2093 predictions. Top by Δscore:

Variant	Effect	Δscore
16:66728243:C:CC	acceptor_gain	1.0000
16:66729035:CTTA:C	donor_loss	1.0000
16:66729036:TTA:T	donor_loss	1.0000
16:66729038:A:AG	donor_loss	1.0000
16:66729039:C:T	donor_loss	1.0000
16:66729096:CCAG:C	acceptor_gain	1.0000
16:66729097:CAG:C	acceptor_gain	1.0000
16:66729097:CAGC:C	acceptor_gain	1.0000
16:66729100:C:CC	acceptor_gain	1.0000
16:66732337:A:AC	donor_gain	1.0000
16:66732338:C:CC	donor_gain	1.0000
16:66734217:CA:C	donor_gain	1.0000
16:66736072:CACCT:C	donor_loss	1.0000
16:66736073:A:C	donor_loss	1.0000
16:66736122:CATTG:C	donor_gain	1.0000
16:66736240:CACAA:C	acceptor_gain	1.0000
16:66736241:ACAA:A	acceptor_gain	1.0000
16:66736241:ACAAC:A	acceptor_gain	1.0000
16:66736242:CAA:C	acceptor_gain	1.0000
16:66736242:CAAC:C	acceptor_gain	1.0000
16:66736243:AA:A	acceptor_gain	1.0000
16:66736245:C:CC	acceptor_gain	1.0000
16:66742429:TTTAC:T	donor_loss	1.0000
16:66742430:TTAC:T	donor_loss	1.0000
16:66742431:TAC:T	donor_loss	1.0000
16:66742432:A:AC	donor_gain	1.0000
16:66742432:AC:A	donor_loss	1.0000
16:66742433:C:CC	donor_gain	1.0000
16:66742433:C:G	donor_loss	1.0000
16:66742434:T:TC	donor_loss	1.0000

AlphaMissense

3212 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
16:66725899:A:G	L436P	1.000
16:66725899:A:T	L436Q	1.000
16:66725907:G:C	F433L	1.000
16:66725907:G:T	F433L	1.000
16:66725909:A:G	F433L	1.000
16:66725910:G:C	F432L	1.000
16:66725910:G:T	F432L	1.000
16:66725911:A:C	F432C	1.000
16:66725911:A:G	F432S	1.000
16:66725912:A:G	F432L	1.000
16:66725920:A:G	L429S	1.000
16:66729053:A:G	L363P	1.000
16:66725896:A:G	L437S	0.999
16:66725908:A:C	F433C	0.999
16:66725908:A:G	F433S	0.999
16:66725909:A:C	F433V	0.999
16:66725909:A:T	F433I	0.999
16:66730210:C:G	D315H	0.999
16:66730213:A:G	W314R	0.999
16:66730213:A:T	W314R	0.999
16:66751335:A:G	L40P	0.999
16:66725896:A:C	L437W	0.998
16:66725899:A:C	L436R	0.998
16:66725912:A:T	F432I	0.998
16:66725917:G:T	A430D	0.998
16:66725920:A:C	L429W	0.998
16:66734225:G:C	C262W	0.998
16:66734235:C:G	R259P	0.998
16:66751335:A:T	L40Q	0.998
16:66751338:A:G	I39T	0.998

dbSNP variants (sampled 300 via entrez): RS1000045237 (16:66726047 T>A,G), RS1000284928 (16:66747908 G>C), RS1000405177 (16:66741394 G>C), RS1000771806 (16:66742993 T>C), RS1000790497 (16:66750722 C>G), RS1000834687 (16:66741583 C>T), RS1000946873 (16:66744255 T>G), RS1001010646 (16:66730554 C>T), RS1001068869 (16:66738084 C>G,T), RS1001101428 (16:66738332 T>G), RS1001151314 (16:66723586 T>G), RS1001178794 (16:66737400 T>C), RS1001359221 (16:66731916 G>A,C), RS1001374723 (16:66744623 C>T), RS1001390382 (16:66731625 G>A)

Disease associations

OMIM: gene MIM:611406 | 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
GCST008959_8	Lipid traits	4.000000e-11

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004612	high density lipoprotein cholesterol measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6066249 (SINGLE PROTEIN)

PharmGKB: 1 entry (VIP=true, CPIC=false)

ChEMBL bioactivities

2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
7.55	Kd	27.83	nM	CHEMBL5653589
7.55	ED50	27.83	nM	CHEMBL5653589

PubChem BioAssay actives

1 with measured affinity, of 2 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	2148273: Binding affinity to human DYNC1LI2 incubated for 45 mins by Kinobead based pull down assay	kd	0.0278	uM

CTD chemical–gene interactions

49 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases expression	2
sodium arsenite	increases expression, increases abundance	2
Valproic Acid	affects expression, decreases expression	2
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression, increases expression	2
aristolochic acid I	decreases expression	1
GSK-J4	increases expression	1
FR900359	decreases phosphorylation	1
2,4,6-tribromophenol	decreases expression	1
alpha-pinene	affects cotreatment, increases oxidation, increases abundance	1
pyrogallol 1,3-dimethyl ether	affects cotreatment, affects localization, decreases expression	1
tetrahydropalmatine	decreases expression	1
arsenite	affects binding, decreases reaction	1
tetrabromobisphenol A	decreases expression	1
methacrylaldehyde	increases oxidation, increases abundance, affects cotreatment	1
N,N,N’,N’-tetrakis(2-pyridylmethyl)ethylenediamine	decreases expression	1
tamibarotene	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
hexabrominated diphenyl ether 153	decreases expression	1
LDN 193189	affects cotreatment, increases expression	1
bisphenol AF	increases expression	1
Acrolein	affects cotreatment, increases oxidation, increases abundance	1
Air Pollutants	affects cotreatment, increases abundance, increases oxidation	1
Arsenic	increases abundance, increases expression	1
Benzo(a)pyrene	increases methylation	1
Caffeine	affects phosphorylation	1
Clozapine	decreases expression	1
Enzyme Inhibitors	decreases activity, increases O-linked glycosylation	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
CHEMBL5651315	Binding	Binding affinity to human DYNC1LI2 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.