DYNLT2B
Dynein light chain Tctex-type protein 2B
Also known as: DYT2B_HUMAN, MGC33212, TCTEX1D2
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q8WW35
- Gene
- DYNLT2B
- Ensembl
- ENSG00000213123
- Chromosome
- 3
- Canonical length
- 142 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Microtubules,Mitotic spindle,Primary cilium,Basal body,Cytosol
OverviewNCBI Gene
Dyneins are a group of microtubule-activated ATPases that function as molecular motors. They are divided into two subgroups of axonemal and cytoplasmic dyneins. The cytoplasmic dyneins function in intracellular motility, including retrograde axonal transport, protein sorting, organelle movement, and spindle dynamics. Molecules of conventional cytoplasmic dynein are comprised of 2 heavy chain polypeptides and a number of intermediate and light chains. This gene encodes a subunit of the human cytoplasmic dynein-2 complex. Mutations in this gene are associated with short-rib thoracic dysplasia 17 with or without polydactyly. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2017]
Canonical amino-acid sequenceUniProt
142 residues, UniProt reviewed canonical sequence.
>Q8WW35|DYNLT2B
1 MATSIGVSFS VGDGVPEAEK NAGEPENTYI LRPVFQQRFR PSVVKDCIHA VLKEELANAE
61 YSPEEMPQLT KHLSENIKDK LKEMGFDRYK MVVQVVIGEQ RGEGVFMASR CFWDADTDNY
121 THDVFMNDSL FCVVAAFGCF YYLocalizationUniProt · AlphaFold · HPA
Whether an antibody against DYNLT2B can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.41
- Highest tissue expression
- 34 nTPM
Expression across tissuesHPA
Tissue
- fallopian tube: 34 nTPM
- testis: 30 nTPM
- basal ganglia: 29 nTPM
- amygdala: 29 nTPM
- cerebral cortex: 29 nTPM
- hypothalamus: 27 nTPM
Single-cell type
- fallopian tube ciliated cells: 424 nCPM
- epididymal efferent duct ciliated cells: 361 nCPM
- early primary spermatocytes: 347 nCPM
- respiratory ciliated cells: 339 nCPM
- late primary spermatocytes: 242 nCPM
- endometrial ciliated cells: 202 nCPM
Immune cell
- T-reg: 25 nTPM
- memory B-cell: 22 nTPM
- plasmacytoid DC: 16 nTPM
- memory CD4 T-cell: 14 nTPM
- naive B-cell: 14 nTPM
- gdT-cell: 12 nTPM
Brain region
- medulla oblongata: 14 nTPM
- midbrain: 14 nTPM
- hypothalamus: 12 nTPM
- spinal cord: 10 nTPM
- basal ganglia: 9.9 nTPM
- cerebral cortex: 9.3 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about DYNLT2B.
Disease | AllUniProt
Conditions DYNLT2B is implicated in, by any mechanism.
- Short-rib thoracic dysplasia 17 with or without polydactyly (SRTD17) MIM:617405
Disease | GeneticClinVar
8 pathogenic / likely-pathogenic of 79 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Short-rib thoracic dysplasia 17 with or without polydactyly
- Asphyxiating thoracic dystrophy 3
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.49
- gnomAD pLI
- 0
- DepMap mean gene effect
- -0.03
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cilium assembly
- intraciliary retrograde transport
- microtubule-based movement
- regulation of cilium assembly
- regulation of intraciliary retrograde transport
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of DYNLT2B in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads DYNLT2B as an antibody target. Whether an autoantibody or antibody against DYNLT2B could matter depends on whether native DYNLT2B is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
DYNLT2B is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label DYNLT2B as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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