DYNLRB2

dynein light chain roadblock-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): 16:80540733-80550811

Previous symbols: [ "DNCL2B" ]

Links

ENSG00000168589 ∙ NCBI:83657 ∙ OMIM:607168 ∙ HGNC:15467 ∙ Uniprot:Q8TF09 ∙ 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 DYNLRB2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DYNLRB2 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					1	1
missense			14			14
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	14	0	1

Variants in DYNLRB2

This is a list of pathogenic ClinVar variants found in the DYNLRB2 region.

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

Position	Type	Phenotype	Significance	ClinVar
16-80543317-A-C		not specified	Uncertain significance (Oct 05, 2023)
16-80543321-G-C		not specified	Uncertain significance (Jan 08, 2024)
16-80549489-C-T		not specified	Uncertain significance (Sep 20, 2023)
16-80549511-A-C		not specified	Uncertain significance (Feb 28, 2023)
16-80549537-C-G		not specified	Uncertain significance (Jan 19, 2024)
16-80549541-T-C		not specified	Uncertain significance (Dec 01, 2023)
16-80549556-T-C		not specified	Uncertain significance (Feb 22, 2023)
16-80549577-G-A		not specified	Uncertain significance (Sep 01, 2021)
16-80549583-T-C		not specified	Uncertain significance (Feb 22, 2023)
16-80549596-C-A		not specified	Uncertain significance (Aug 17, 2021)
16-80549600-C-T		not specified	Benign (Mar 29, 2016)
16-80549604-C-A		not specified	Uncertain significance (Feb 16, 2023)
16-80549624-A-G		not specified	Uncertain significance (Oct 20, 2021)
16-80550520-G-A		not specified	Uncertain significance (Dec 03, 2021)
16-80550535-G-C		not specified	Uncertain significance (Jun 18, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DYNLRB2	protein_coding	protein_coding	ENST00000305904	4	10027

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000617	0.290	125740	0	8	125748	0.0000318

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.919	72	53.2	1.35	0.00000262	627
Missense in Polyphen		19	14.074	1.35		167
Synonymous	-0.542	20	17.1	1.17	8.69e-7	180
Loss of Function	-0.239	6	5.40	1.11	3.07e-7	62

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000185	0.000185
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000360	0.0000352
Middle Eastern	0.0000544	0.0000544
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.
• Pathway: TGF_beta_Receptor;Intraflagellar transport;Cilium Assembly;Organelle biogenesis and maintenance (Consensus)

Recessive Scores

• pRec: 0.130

Intolerance Scores

• rvis_EVS: 0.08
• rvis_percentile_EVS: 59.76

Haploinsufficiency Scores

• pHI: 0.170
• hipred: N
• hipred_score: 0.480
• ghis: 0.483

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.181

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Dynlrb2
• Phenotype: homeostasis/metabolism phenotype; growth/size/body region phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); hematopoietic system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); reproductive system phenotype; immune system phenotype

Gene ontology

• Biological process: microtubule-based movement;intraciliary transport involved in cilium assembly
• Cellular component: cytoplasmic dynein complex;microtubule;cilium;outer dynein arm;ciliary tip
• Molecular function: microtubule motor activity;dynein intermediate chain binding