Aliases for DYNLRB2 Gene

Aliases for DYNLRB2 Gene

  • Dynein Light Chain Roadblock-Type 2 2 3 4 5
  • DNLC2B 2 3 4
  • ROBLD2 2 3 4
  • Dynein, Cytoplasmic, Light Polypeptide 2B 2 3
  • Roadblock Domain-Containing Protein 2 3 4
  • Dynein Light Chain 2B, Cytoplasmic 3 4
  • DNCL2B 3 4
  • Testicular Tissue Protein Li 53 3
  • Roadblock Domain Containing 2 2
  • Bithoraxoid-Like Protein 3
  • DYNLRB2 5

External Ids for DYNLRB2 Gene

Previous HGNC Symbols for DYNLRB2 Gene

  • DNCL2B

Previous GeneCards Identifiers for DYNLRB2 Gene

  • GC16P079133
  • GC16P080574
  • GC16P066331

Summaries for DYNLRB2 Gene

GeneCards Summary for DYNLRB2 Gene

DYNLRB2 (Dynein Light Chain Roadblock-Type 2) is a Protein Coding gene. Diseases associated with DYNLRB2 include Deafness, Autosomal Recessive 77 and Hepatocellular Carcinoma. Among its related pathways are Regulation of degradation of deltaF508 CFTR in CF and Intraflagellar transport. Gene Ontology (GO) annotations related to this gene include microtubule motor activity. An important paralog of this gene is DYNLRB1.

UniProtKB/Swiss-Prot Summary for DYNLRB2 Gene

  • 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.

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DYNLRB2 Gene

Genomics for DYNLRB2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DYNLRB2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16J080540 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 265.5 +0.7 664 1.8 ZSCAN16 ZBTB10 MXD4 MNT ETS1 MBD2 ZNF217 POLR2A ZEB1 ELF1 DYNLRB2 LOC105371360 DYNLRB2-AS1 ENSG00000259867 CDYL2
GH16J080568 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE 18.6 +29.4 29442 1.8 BCL11A ZIC2 VEZF1 MAFF ZNF341 RXRA ZNF843 KLF9 ZNF316 FOSL1 LINC01227 DYNLRB2 ENSG00000260495 piR-57133-237 CDYL2
GH16J080579 Enhancer 1.1 FANTOM5 Ensembl ENCODE 19 +39.4 39442 4.6 BCL11A FEZF1 POLR2A CUX1 FOXA2 IRF4 RXRA EBF1 CBFB BATF DYNLRB2 CMC2 LINC01227 HSALNG0112943 CDYL2
GH16J081431 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 10.5 +892.2 892242 3.4 SP1 MXD4 BCL11A CEBPA FOXA1 IKZF1 ZFP64 THAP11 FOXA2 IRF4 ENSG00000261141 DYNLRB2 CMIP PLCG2 HSALNG0112991 piR-38051-122 GAN
GH16J080564 Enhancer 0.6 Ensembl ENCODE 25 +24.1 24142 1.6 GATA2 ZNF366 ZNF512 DYNLRB2-AS1 ENSG00000259867 piR-57133-237 DYNLRB2 LINC01227 CDYL2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DYNLRB2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DYNLRB2

Top Transcription factor binding sites by QIAGEN in the DYNLRB2 gene promoter:
  • aMEF-2
  • AML1a
  • GATA-1
  • GATA-2
  • GATA-3
  • MEF-2A
  • Nkx3-1 v4
  • POU2F1
  • POU2F1a

Genomic Locations for DYNLRB2 Gene

Latest Assembly
chr16:80,540,259-80,550,811
(GRCh38/hg38)
Size:
10,553 bases
Orientation:
Plus strand

Previous Assembly
chr16:80,574,631-80,584,708
(GRCh37/hg19 by Entrez Gene)
Size:
10,078 bases
Orientation:
Plus strand

chr16:80,574,631-80,584,657
(GRCh37/hg19 by Ensembl)
Size:
10,027 bases
Orientation:
Plus strand

Genomic View for DYNLRB2 Gene

Genes around DYNLRB2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DYNLRB2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DYNLRB2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DYNLRB2 Gene

Proteins for DYNLRB2 Gene

  • Protein details for DYNLRB2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TF09-DLRB2_HUMAN
    Recommended name:
    Dynein light chain roadblock-type 2
    Protein Accession:
    Q8TF09

    Protein attributes for DYNLRB2 Gene

    Size:
    96 amino acids
    Molecular mass:
    10855 Da
    Quaternary structure:
    • Homodimer (Probable). 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 DYNC1I1 and DYNC1I2. Self-associates. Interacts with DYNLRB1.
    Miscellaneous:
    • Expression is significantly down-regulated in hepatocellular carcinoma (HCC) patients.

neXtProt entry for DYNLRB2 Gene

Post-translational modifications for DYNLRB2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for DYNLRB2 Gene

Domains & Families for DYNLRB2 Gene

Protein Domains for DYNLRB2 Gene

InterPro:
Blocks:
  • Roadblock/LC7 family
ProtoNet:

Suggested Antigen Peptide Sequences for DYNLRB2 Gene

GenScript: Design optimal peptide antigens:
  • Roadblock domain-containing protein 2 (DLRB2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8TF09

UniProtKB/Swiss-Prot:

DLRB2_HUMAN :
  • Belongs to the GAMAD family.
Family:
  • Belongs to the GAMAD family.
genes like me logo Genes that share domains with DYNLRB2: view

Function for DYNLRB2 Gene

Molecular function for DYNLRB2 Gene

UniProtKB/Swiss-Prot 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.

Phenotypes From GWAS Catalog for DYNLRB2 Gene

Gene Ontology (GO) - Molecular Function for DYNLRB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003774 motor activity IEA --
GO:0003777 microtubule motor activity NAS 11750132
GO:0045505 dynein intermediate chain binding IBA 21873635
genes like me logo Genes that share ontologies with DYNLRB2: view
genes like me logo Genes that share phenotypes with DYNLRB2: view

Animal Models for DYNLRB2 Gene

MGI Knock Outs for DYNLRB2:

miRNA for DYNLRB2 Gene

miRTarBase miRNAs that target DYNLRB2

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DYNLRB2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for DYNLRB2 Gene

Localization for DYNLRB2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DYNLRB2 Gene

Cytoplasm, cytoskeleton.

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 DYNLRB2 gene
Compartment Confidence
cytoskeleton 5
nucleus 2
cytosol 2
plasma membrane 1
extracellular 1
endosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for DYNLRB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA 21873635
GO:0005813 centrosome IBA 21873635
GO:0005856 cytoskeleton IEA --
GO:0005868 cytoplasmic dynein complex IBA,NAS 11750132
GO:0005874 microtubule IEA --
genes like me logo Genes that share ontologies with DYNLRB2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for DYNLRB2 Gene

Pathways & Interactions for DYNLRB2 Gene

PathCards logo

SuperPathways for DYNLRB2 Gene

genes like me logo Genes that share pathways with DYNLRB2: view

Pathways by source for DYNLRB2 Gene

1 KEGG pathway for DYNLRB2 Gene
2 GeneGo (Thomson Reuters) pathways for DYNLRB2 Gene
  • Cell cycle_Spindle assembly and chromosome separation
  • Regulation of degradation of deltaF508 CFTR in CF

Gene Ontology (GO) - Biological Process for DYNLRB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007018 microtubule-based movement IBA,NAS 11750132
GO:0035735 intraciliary transport involved in cilium assembly TAS --
genes like me logo Genes that share ontologies with DYNLRB2: view

No data available for SIGNOR curated interactions for DYNLRB2 Gene

Drugs & Compounds for DYNLRB2 Gene

No Compound Related Data Available

Transcripts for DYNLRB2 Gene

mRNA/cDNA for DYNLRB2 Gene

2 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
6 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 DYNLRB2

Alternative Splicing Database (ASD) splice patterns (SP) for DYNLRB2 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b
SP1: -
SP2: - - - -
SP3: - -
SP4: -

Relevant External Links for DYNLRB2 Gene

GeneLoc Exon Structure for
DYNLRB2

Expression for DYNLRB2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DYNLRB2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DYNLRB2 Gene

This gene is overexpressed in Testis (x29.2).

Protein differential expression in normal tissues from HIPED for DYNLRB2 Gene

This gene is overexpressed in Brain (22.4), Plasma (21.5), Heart (14.4), and Skin (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for DYNLRB2 Gene



Protein tissue co-expression partners for DYNLRB2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DYNLRB2

SOURCE GeneReport for Unigene cluster for DYNLRB2 Gene:

Hs.98849

mRNA Expression by UniProt/SwissProt for DYNLRB2 Gene:

Q8TF09-DLRB2_HUMAN
Tissue specificity: High expression in heart, brain, placenta, skeletal muscle, prostate and small intestine; moderate in kidney, pancreas, spleen, testis, ovary and colon; low in lung, liver, thymus and leukocyte.

Evidence on tissue expression from TISSUES for DYNLRB2 Gene

  • Liver(4.3)
genes like me logo Genes that share expression patterns with DYNLRB2: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for DYNLRB2 Gene

Orthologs for DYNLRB2 Gene

This gene was present in the common ancestor of animals.

Orthologs for DYNLRB2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia DYNLRB2 30 31
  • 100 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia DYNLRB2 31
  • 96 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia DYNLRB2 30 31
  • 93.4 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia DYNLRB2 30 31
  • 92.01 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Dynlrb2 30 17 31
  • 88.19 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Dynlrb2 30
  • 85.42 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 51 (a)
OneToMany
-- 31
  • 41 (a)
OneToMany
-- 31
  • 36 (a)
OneToMany
Chicken
(Gallus gallus)
Aves DYNLRB2 30 31
  • 81.94 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia DYNLRB2 31
  • 96 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia dynlrb2 30
  • 79.86 (n)
Str.10857 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.6973 30
Zebrafish
(Danio rerio)
Actinopterygii si:ch211-147k9.8 30
  • 77.08 (n)
DYNLRB2 31
  • 74 (a)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13879 30
Fruit Fly
(Drosophila melanogaster)
Insecta robl 30
  • 67.73 (n)
robl37BC 31
  • 25 (a)
OneToMany
CG16837 31
  • 23 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003360 30
  • 65.96 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 84 (a)
OneToOne
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.14206 30
Species where no ortholog for DYNLRB2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • 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)
  • Worm (Caenorhabditis elegans)

Evolution for DYNLRB2 Gene

ENSEMBL:
Gene Tree for DYNLRB2 (if available)
TreeFam:
Gene Tree for DYNLRB2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DYNLRB2: view image

Paralogs for DYNLRB2 Gene

Paralogs for DYNLRB2 Gene

(1) SIMAP similar genes for DYNLRB2 Gene using alignment to 5 proteins:

  • DLRB2_HUMAN
  • H3BNG9_HUMAN
  • H3BPA0_HUMAN
  • H3BQI1_HUMAN
  • Q7Z4M1_HUMAN
genes like me logo Genes that share paralogs with DYNLRB2: view

Variants for DYNLRB2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DYNLRB2 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
rs11866734 Benign: not specified 80,549,600(+) C/T
NM_130897.3(DYNLRB2):c.196C>T (p.Leu66=)
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS
rs13332289 - p.His14Arg

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for DYNLRB2 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 DYNLRB2 Gene

Variant ID Type Subtype PubMed ID
esv3639274 CNV loss 21293372
nsv833300 CNV gain 17160897

Variation tolerance for DYNLRB2 Gene

Residual Variation Intolerance Score: 77% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.69; 32.23% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DYNLRB2 Gene

Human Gene Mutation Database (HGMD)
DYNLRB2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DYNLRB2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DYNLRB2 Gene

Disorders for DYNLRB2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for DYNLRB2 Gene - From: COP and GCD

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for DYNLRB2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with DYNLRB2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DYNLRB2 Gene

Publications for DYNLRB2 Gene

  1. Identification of two novel human dynein light chain genes, DNLC2A and DNLC2B, and their expression changes in hepatocellular carcinoma tissues from 68 Chinese patients. (PMID: 11750132) Jiang J … Zhao S (Gene 2001) 2 3 4 23
  2. Fine mapping and association studies of a high-density lipoprotein cholesterol linkage region on chromosome 16 in French-Canadian subjects. (PMID: 19844255) Dastani Z … Genest J (European journal of human genetics : EJHG 2010) 3 41
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
  4. Cytoplasmic dynein nomenclature. (PMID: 16260502) Pfister KK … Vallee RB (The Journal of cell biology 2005) 2 3
  5. The roadblock light chain binds a novel region of the cytoplasmic Dynein intermediate chain. (PMID: 12077152) Susalka SJ … Pfister KK (The Journal of biological chemistry 2002) 3 4

Products for DYNLRB2 Gene

Sources for DYNLRB2 Gene