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... See more...

Aliases for DYNLT2B Gene

Aliases for DYNLT2B Gene

  • Dynein Light Chain Tctex-Type 2B 2 3 5
  • Dynein Light Chain Tctex-Type Protein 2B 3 4
  • Tctex1 Domain-Containing Protein 2 3 4
  • Tctex1 Domain Containing 2 2 3
  • TCTEX1D2 3 4
  • MGC33212 2
  • DYNLT2B 5
  • SRTD17 3

External Ids for DYNLT2B Gene

Previous HGNC Symbols for DYNLT2B Gene

  • TCTEX1D2

Summaries for DYNLT2B Gene

Entrez Gene Summary for DYNLT2B 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]

GeneCards Summary for DYNLT2B Gene

DYNLT2B (Dynein Light Chain Tctex-Type 2B) is a Protein Coding gene. Diseases associated with DYNLT2B include Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly and Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly. Among its related pathways are Organelle biogenesis and maintenance and Intraflagellar transport. An important paralog of this gene is ENSG00000272741.

UniProtKB/Swiss-Prot Summary for DYNLT2B Gene

  • Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 2 complex (dynein-2 complex), a motor protein complex that drives the movement of cargos along microtubules within cilia and flagella in concert with the intraflagellar transport (IFT) system. Required for proper retrograde ciliary transport.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DYNLT2B Gene

Genomics for DYNLT2B Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DYNLT2B Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DYNLT2B on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DYNLT2B

Genomic Locations for DYNLT2B Gene

Latest Assembly
chr3:196,291,219-196,318,299
(GRCh38/hg38)
Size:
27,081 bases
Orientation:
Minus strand

Previous Assembly
chr3:196,018,090-196,045,111
(GRCh37/hg19 by Entrez Gene)
Size:
27,022 bases
Orientation:
Minus strand

chr3:196,018,090-196,045,170
(GRCh37/hg19 by Ensembl)
Size:
27,081 bases
Orientation:
Minus strand

Genomic View for DYNLT2B Gene

Genes around DYNLT2B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DYNLT2B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DYNLT2B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DYNLT2B Gene

Proteins for DYNLT2B Gene

  • Protein details for DYNLT2B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WW35-DYT2B_HUMAN
    Recommended name:
    Dynein light chain Tctex-type protein 2B
    Protein Accession:
    Q8WW35
    Secondary Accessions:
    • A6NCN5

    Protein attributes for DYNLT2B Gene

    Size:
    142 amino acids
    Molecular mass:
    16122 Da
    Quaternary structure:
    • Light chain of the cytoplasmic dynein complex 2, a multisubunit complex composed at least of eleven different proteins (PubMed:25205765, PubMed:26044572). The cytoplasmic dynein 2 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). Among them, a heavy chain (DYNC2H1), two intermediate chains (DYNC2I2 and DYNC2I1), a light intermediate chain (DYNC2LI1), and a light chain (DYNLT2B) are unique to the dynein-2 complex, but a subset of the light chains are also shared by dynein-1 and dynein-2 complexes (PubMed:25205765, PubMed:26044572). Interacts with DYNC2I1 (PubMed:26044572). The dimer DYNLT2B-DYNLT1/DYNLT3 interacts with DYNC2I1; this interaction is crucial for retrograde trafficking of ciliary proteins (PubMed:29742051, PubMed:26044572).

neXtProt entry for DYNLT2B Gene

Post-translational modifications for DYNLT2B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DYNLT2B Gene

No data available for DME Specific Peptides for DYNLT2B Gene

Domains & Families for DYNLT2B Gene

Gene Families for DYNLT2B Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for DYNLT2B Gene

InterPro:
Blocks:
  • Tctex-1 family

Suggested Antigen Peptide Sequences for DYNLT2B Gene

GenScript: Design optimal peptide antigens:
  • Tctex1 domain-containing protein 2 (TC1D2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8WW35

UniProtKB/Swiss-Prot:

DYT2B_HUMAN :
  • Belongs to the dynein light chain Tctex-type family.
Family:
  • Belongs to the dynein light chain Tctex-type family.
genes like me logo Genes that share domains with DYNLT2B: view

Function for DYNLT2B Gene

Molecular function for DYNLT2B Gene

UniProtKB/Swiss-Prot Function:
Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 2 complex (dynein-2 complex), a motor protein complex that drives the movement of cargos along microtubules within cilia and flagella in concert with the intraflagellar transport (IFT) system. Required for proper retrograde ciliary transport.

Phenotypes From GWAS Catalog for DYNLT2B Gene

Gene Ontology (GO) - Molecular Function for DYNLT2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 20195357
GO:0045505 dynein intermediate chain binding IPI 25830415
genes like me logo Genes that share ontologies with DYNLT2B: view
genes like me logo Genes that share phenotypes with DYNLT2B: view

Human Phenotype Ontology for DYNLT2B Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DYNLT2B Gene

MGI Knock Outs for DYNLT2B:

miRNA for DYNLT2B Gene

miRTarBase miRNAs that target DYNLT2B

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DYNLT2B

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for DYNLT2B Gene

Localization for DYNLT2B Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DYNLT2B gene
Compartment Confidence
cytoskeleton 4
cytosol 3
plasma membrane 1
extracellular 1
nucleus 1
mitochondrion 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for DYNLT2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000922 colocalizes_with spindle pole IDA 25830415
GO:0005813 colocalizes_with centrosome IDA 25830415
GO:0005868 cytoplasmic dynein complex IDA 25205765
GO:0005929 cilium IEA --
GO:0005930 colocalizes_with axoneme IDA 25830415
genes like me logo Genes that share ontologies with DYNLT2B: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for DYNLT2B Gene

Pathways & Interactions for DYNLT2B Gene

genes like me logo Genes that share pathways with DYNLT2B: view

Pathways by source for DYNLT2B Gene

Gene Ontology (GO) - Biological Process for DYNLT2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0035721 intraciliary retrograde transport IMP 29742051
GO:0060271 cilium assembly IMP 25830415
GO:1902017 regulation of cilium assembly IMP 25205765
GO:1905799 regulation of intraciliary retrograde transport IMP 26044572
genes like me logo Genes that share ontologies with DYNLT2B: view

No data available for SIGNOR curated interactions for DYNLT2B Gene

Drugs & Compounds for DYNLT2B Gene

No Compound Related Data Available

Transcripts for DYNLT2B Gene

mRNA/cDNA for DYNLT2B Gene

2 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DYNLT2B

Alternative Splicing Database (ASD) splice patterns (SP) for DYNLT2B Gene

No ASD Table

Relevant External Links for DYNLT2B Gene

GeneLoc Exon Structure for
DYNLT2B

Expression for DYNLT2B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Testis (Reproductive System)

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DYNLT2B

SOURCE GeneReport for Unigene cluster for DYNLT2B Gene:

Hs.733180

Evidence on tissue expression from TISSUES for DYNLT2B Gene

  • Nervous system(4.5)
  • Kidney(2.2)
  • Heart(2)
genes like me logo Genes that share expression patterns with DYNLT2B: view

Primer products for research

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for DYNLT2B Gene

Orthologs for DYNLT2B Gene

This gene was present in the common ancestor of animals.

Orthologs for DYNLT2B Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia TCTEX1D2 29 30
  • 100 (n)
OneToMany
Dog
(Canis familiaris)
Mammalia -- 30
  • 96 (a)
ManyToMany
TCTEX1D2 29
  • 93.97 (n)
-- 30
  • 82 (a)
ManyToMany
Cow
(Bos Taurus)
Mammalia TCTEX1D2 29 30
  • 91.13 (n)
OneToMany
Rat
(Rattus norvegicus)
Mammalia Tctex1d2 29
  • 86.85 (n)
Mouse
(Mus musculus)
Mammalia Tctex1d2 29 30
  • 85.45 (n)
OneToMany
Dynlt2b 16
Chicken
(Gallus gallus)
Aves TCTEX1D2 29
  • 74.14 (n)
-- 30
  • 72 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 71 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia tctex1d2 29
  • 71.51 (n)
Zebrafish
(Danio rerio)
Actinopterygii tctex1d2 29 30
  • 64.66 (n)
OneToMany
Dr.18782 29
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5883 29
Fruit Fly
(Drosophila melanogaster)
Insecta CG5359 30
  • 27 (a)
ManyToMany
CG7276 30
  • 27 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea dylt-2 30
  • 35 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 63 (a)
OneToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.8237 29
Species where no ortholog for DYNLT2B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for DYNLT2B Gene

ENSEMBL:
Gene Tree for DYNLT2B (if available)
TreeFam:
Gene Tree for DYNLT2B (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DYNLT2B: view image
Alliance of Genome Resources:
Additional Orthologs for DYNLT2B

Paralogs for DYNLT2B Gene

Paralogs for DYNLT2B Gene

genes like me logo Genes that share paralogs with DYNLT2B: view

Variants for DYNLT2B Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DYNLT2B Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
rs1056574154 Pathogenic: Short-rib thoracic dysplasia 17 with or without polydactyly 196,318,038(-) G/C
NM_152773.5(DYNLT2B):c.113+2C>G
SPLICE_DONOR
rs1060505043 Pathogenic: Short-rib thoracic dysplasia 17 with or without polydactyly 196,318,053(-) C/AG
NM_152773.5(DYNLT2B):c.100delinsCT (p.Val34fs)
FRAMESHIFT
rs142927338 Likely Benign: not provided 196,296,059(-) G/A
NM_152773.5(DYNLT2B):c.328C>T (p.Arg110Cys)
MISSENSE
rs145476537 Benign: not provided 196,318,096(-) C/T
NM_152773.5(DYNLT2B):c.57G>A (p.Glu19=)
SYNONYMOUS
rs149665976 Conflicting Interpretations: Short-rib thoracic dysplasia 17 with or without polydactyly; not provided 196,316,232(-) C/T
NM_152773.5(DYNLT2B):c.114-1G>A
SPLICE_ACCEPTOR

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for DYNLT2B Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for DYNLT2B Gene

Variant ID Type Subtype PubMed ID
esv2759213 CNV gain+loss 17122850
esv3389071 CNV duplication 20981092
esv3407163 CNV duplication 20981092
esv3599276 CNV loss 21293372
esv3599277 CNV gain 21293372
nsv1009811 CNV gain 25217958
nsv1123731 CNV deletion 24896259
nsv1135926 CNV deletion 24896259
nsv1136799 CNV deletion 24896259
nsv4183 CNV deletion 18451855
nsv593071 CNV gain 21841781
nsv997797 CNV gain 25217958

Variation tolerance for DYNLT2B Gene

Residual Variation Intolerance Score: 76.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.60; 12.83% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DYNLT2B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DYNLT2B
Leiden Open Variation Database (LOVD)
DYNLT2B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DYNLT2B Gene

Disorders for DYNLT2B Gene

MalaCards: The human disease database

(21) MalaCards diseases for DYNLT2B Gene - From: OMI, CVR, GTR, COP, and GCD

UniProtKB/Swiss-Prot

DYT2B_HUMAN
  • Short-rib thoracic dysplasia 17 with or without polydactyly (SRTD17) [MIM:617405]: A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome. {ECO:0000269 PubMed:26044572}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for DYNLT2B

genes like me logo Genes that share disorders with DYNLT2B: view

No data available for Genatlas for DYNLT2B Gene

Publications for DYNLT2B Gene

  1. Subunit composition of the human cytoplasmic dynein-2 complex. (PMID: 25205765) Asante D … Stephens DJ (Journal of cell science 2014) 2 3 4
  2. Interaction of WDR60 intermediate chain with TCTEX1D2 light chain of the dynein-2 complex is crucial for ciliary protein trafficking. (PMID: 29742051) Hamada Y … Nakayama K (Molecular biology of the cell 2018) 3 4
  3. TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport. (PMID: 26044572) Schmidts M … Witman GB (Nature communications 2015) 3 4
  4. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  5. DCAF8, a novel MuRF1 interaction partner, promotes muscle atrophy. (PMID: 31391242) Nowak M … Sommer T (Journal of cell science 2019) 3

Products for DYNLT2B Gene

Sources for DYNLT2B Gene