DYNLL2

dynein light chain LC8-type 2, the group of Dyneins, axonemal inner arm I1/f complex subunits|Dyneins, axonemal outer arm complex subunits|Dynein 1 complex subunits|Dynein 2 complex subunits

Basic information

Region (hg38): 17:58083419-58095542

Links

ENSG00000264364

∙ NCBI:140735 ∙ OMIM:608942 ∙ HGNC:24596 ∙ Uniprot:Q96FJ2 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the DYNLL2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DYNLL2 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			2 clinvar			2
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	2	0	0

Variants in DYNLL2

This is a list of pathogenic ClinVar variants found in the DYNLL2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Phenotype	Significance	ClinVar
17-58087154-G-A	not specified	Uncertain significance (Mar 17, 2023)	2513074
17-58087192-A-G	not specified	Uncertain significance (Jun 05, 2024)	3274206
17-58087218-A-G	not specified	Uncertain significance (Dec 28, 2022)	2340627
17-58089144-A-T	not specified	Uncertain significance (May 13, 2024)	3274207

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DYNLL2	protein_coding	protein_coding	ENST00000579991	2	12122

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.743	0.247	125582	0	3	125585	0.0000119

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.01	13	54.9	0.237	0.00000321	600
Missense in Polyphen		0	11.988	0		155
Synonymous	0.116	21	21.7	0.968	0.00000155	150
Loss of Function	1.96	0	4.49	0.00	2.75e-7	47

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000289	0.0000289
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000176	0.0000176
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Function: 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 (By similarity). {ECO:0000250}.;
Pathway: Vasopressin-regulated water reabsorption - Homo sapiens (human);Signal Transduction;Vesicle-mediated transport;Membrane Trafficking;Post-translational protein modification;Metabolism of proteins;Activation of BMF and translocation to mitochondria;Activation of BH3-only proteins;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal;Amplification of signal from the kinetochores;Intrinsic Pathway for Apoptosis;Mitotic Spindle Checkpoint;Cell Cycle Checkpoints;Apoptosis;Programmed Cell Death;RHO GTPases Activate Formins;Macroautophagy;Cellular responses to external stimuli;RHO GTPase Effectors;Signaling by Rho GTPases;Transport to the Golgi and subsequent modification;Asparagine N-linked glycosylation;COPI-independent Golgi-to-ER retrograde traffic;Golgi-to-ER retrograde transport;Mitotic Prometaphase;COPI-mediated anterograde transport;Separation of Sister Chromatids;Mitotic Anaphase;Mitotic Metaphase and Anaphase;M Phase;Cell Cycle;Resolution of Sister Chromatid Cohesion;ER to Golgi Anterograde Transport;Cell Cycle, Mitotic;Intra-Golgi and retrograde Golgi-to-ER traffic;Intraflagellar transport;Cilium Assembly;Organelle biogenesis and maintenance (Consensus)

Intolerance Scores

loftool
rvis_EVS: 0.06
rvis_percentile_EVS: 58

Haploinsufficiency Scores

pHI: 0.441
hipred: N
hipred_score: 0.476
ghis

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap
gene_indispensability_pred: E
gene_indispensability_score: 0.539

Mouse Genome Informatics

Gene name: Dynll2
Phenotype

Gene ontology

Biological process: endoplasmic reticulum to Golgi vesicle-mediated transport;macroautophagy;antigen processing and presentation of exogenous peptide antigen via MHC class II;intraciliary transport involved in cilium assembly;positive regulation of ATP-dependent microtubule motor activity, plus-end-directed
Cellular component: nucleus;centrosome;cytosol;cytoplasmic dynein complex;microtubule;plasma membrane;cilium;postsynaptic density;membrane;dynein complex;myosin V complex;ciliary tip;postsynapse;glutamatergic synapse
Molecular function: protein binding;ATP-dependent microtubule motor activity, plus-end-directed;protein homodimerization activity;dynein intermediate chain binding;protein heterodimerization activity;dynein light intermediate chain binding;scaffold protein binding