Cytoplasmic dynein is a microtubule-associated motor protein (Hughes et al., 1995 [PubMed 7738094]). See DYNC1H1 (MIM 600112) for general information about dyneins.[supplied by OMIM, Mar 2008] See more...

Aliases for DYNC1LI2 Gene

Aliases for DYNC1LI2 Gene

  • Dynein Cytoplasmic 1 Light Intermediate Chain 2 2 3 5
  • Dynein, Cytoplasmic, Light Intermediate Polypeptide 2 2 3
  • Cytoplasmic Dynein 1 Light Intermediate Chain 2 3 4
  • Dynein Light Intermediate Chain 2, Cytosolic 3 4
  • LIC53/55 3 4
  • DNCLI2 3 4
  • LIC-2 3 4
  • LIC2 3 4
  • DYNC1LI2 5

External Ids for DYNC1LI2 Gene

Previous HGNC Symbols for DYNC1LI2 Gene

  • DNCLI2

Previous GeneCards Identifiers for DYNC1LI2 Gene

  • GC16M065314
  • GC16M052629

Summaries for DYNC1LI2 Gene

Entrez Gene Summary for DYNC1LI2 Gene

  • Cytoplasmic dynein is a microtubule-associated motor protein (Hughes et al., 1995 [PubMed 7738094]). See DYNC1H1 (MIM 600112) for general information about dyneins.[supplied by OMIM, Mar 2008]

GeneCards Summary for DYNC1LI2 Gene

DYNC1LI2 (Dynein Cytoplasmic 1 Light Intermediate Chain 2) is a Protein Coding gene. Diseases associated with DYNC1LI2 include Bardet-Biedl Syndrome 7 and Retinitis Pigmentosa 3. Among its related pathways are Cell cycle_Spindle assembly and chromosome separation and Transport to the Golgi and subsequent modification. Gene Ontology (GO) annotations related to this gene include microtubule motor activity. An important paralog of this gene is DYNC1LI1.

UniProtKB/Swiss-Prot Summary for DYNC1LI2 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. May play a role in binding dynein to membranous organelles or chromosomes.

Gene Wiki entry for DYNC1LI2 Gene

Additional gene information for DYNC1LI2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DYNC1LI2 Gene

Genomics for DYNC1LI2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DYNC1LI2 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 DYNC1LI2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DYNC1LI2

Top Transcription factor binding sites by QIAGEN in the DYNC1LI2 gene promoter:
  • AP-2alpha
  • AP-2alphaA
  • AP-2beta
  • CUTL1
  • HSF2
  • NF-AT
  • NF-AT1
  • NF-AT2
  • NF-AT3
  • NF-AT4

Genomic Locations for DYNC1LI2 Gene

Genomic Locations for DYNC1LI2 Gene
chr16:66,720,893-66,751,828
(GRCh38/hg38)
Size:
30,936 bases
Orientation:
Minus strand
chr16:66,754,796-66,785,701
(GRCh37/hg19)
Size:
30,906 bases
Orientation:
Minus strand

Genomic View for DYNC1LI2 Gene

Genes around DYNC1LI2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DYNC1LI2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DYNC1LI2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DYNC1LI2 Gene

Proteins for DYNC1LI2 Gene

  • Protein details for DYNC1LI2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43237-DC1L2_HUMAN
    Recommended name:
    Cytoplasmic dynein 1 light intermediate chain 2
    Protein Accession:
    O43237
    Secondary Accessions:
    • A8K6V1
    • B4DZP4
    • Q8TAT3

    Protein attributes for DYNC1LI2 Gene

    Size:
    492 amino acids
    Molecular mass:
    54099 Da
    Quaternary structure:
    • Homodimer (By similarity). 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. Self-associates. Interacts with DYNC1H1; DYNC1LI1 and DYNC1LI2 bind mutually exclusive to DYNC1H1 (By similarity).

    Three dimensional structures from OCA and Proteopedia for DYNC1LI2 Gene

    Alternative splice isoforms for DYNC1LI2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DYNC1LI2 Gene

Post-translational modifications for DYNC1LI2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for DYNC1LI2 Gene

Domains & Families for DYNC1LI2 Gene

Gene Families for DYNC1LI2 Gene

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

Protein Domains for DYNC1LI2 Gene

InterPro:
Blocks:
  • Dynein light intermediate chain
ProtoNet:

Suggested Antigen Peptide Sequences for DYNC1LI2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ52924, highly similar to Cytoplasmic dynein 1 light intermediate chain 2 (B4DZP4_HUMAN)
  • cDNA FLJ54239, highly similar to Cytoplasmic dynein 1 light intermediate chain 2 (B4E2E0_HUMAN)
  • LIC53/55 (DC1L2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O43237

UniProtKB/Swiss-Prot:

DC1L2_HUMAN :
  • Belongs to the dynein light intermediate chain family.
Family:
  • Belongs to the dynein light intermediate chain family.
genes like me logo Genes that share domains with DYNC1LI2: view

Function for DYNC1LI2 Gene

Molecular function for DYNC1LI2 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. May play a role in binding dynein to membranous organelles or chromosomes.

Phenotypes From GWAS Catalog for DYNC1LI2 Gene

Gene Ontology (GO) - Molecular Function for DYNC1LI2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003774 motor activity IEA --
GO:0003777 microtubule motor activity IEA --
GO:0005524 ATP binding IEA --
GO:0042802 identical protein binding IEA --
genes like me logo Genes that share ontologies with DYNC1LI2: view
genes like me logo Genes that share phenotypes with DYNC1LI2: view

Animal Model Products

CRISPR Products

miRNA for DYNC1LI2 Gene

miRTarBase miRNAs that target DYNC1LI2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DYNC1LI2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for DYNC1LI2 Gene

Localization for DYNC1LI2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DYNC1LI2 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 DYNC1LI2 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
endosome 3
lysosome 2
plasma membrane 1
extracellular 1
mitochondrion 1
peroxisome 1
nucleus 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centrosome (2)
  • Cytosol (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DYNC1LI2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000776 kinetochore IEA --
GO:0005737 cytoplasm IEA --
GO:0005764 lysosome IEA --
GO:0005770 late endosome IEA --
GO:0005813 centrosome IDA 21399614
genes like me logo Genes that share ontologies with DYNC1LI2: view

Pathways & Interactions for DYNC1LI2 Gene

genes like me logo Genes that share pathways with DYNC1LI2: view

Pathways by source for DYNC1LI2 Gene

2 GeneGo (Thomson Reuters) pathways for DYNC1LI2 Gene
  • Cell cycle_Spindle assembly and chromosome separation
  • Regulation of degradation of deltaF508 CFTR in CF

Gene Ontology (GO) - Biological Process for DYNC1LI2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000226 microtubule cytoskeleton organization IBA 21873635
GO:0006888 ER to Golgi vesicle-mediated transport TAS --
GO:0007018 microtubule-based movement IEA,IBA 21873635
GO:0019886 antigen processing and presentation of exogenous peptide antigen via MHC class II TAS --
GO:0051642 centrosome localization IEA --
genes like me logo Genes that share ontologies with DYNC1LI2: view

No data available for SIGNOR curated interactions for DYNC1LI2 Gene

Drugs & Compounds for DYNC1LI2 Gene

No Compound Related Data Available

Transcripts for DYNC1LI2 Gene

mRNA/cDNA for DYNC1LI2 Gene

3 REFSEQ mRNAs :
18 NCBI additional mRNA sequence :
15 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DYNC1LI2

Alternative Splicing Database (ASD) splice patterns (SP) for DYNC1LI2 Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b · 5c ^ 6a · 6b ^ 7a · 7b · 7c ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13
SP1: - - - - -
SP2:
SP3: -
SP4: - -
SP5:
SP6: - - -
SP7: -
SP8:

Relevant External Links for DYNC1LI2 Gene

GeneLoc Exon Structure for
DYNC1LI2

Expression for DYNC1LI2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DYNC1LI2 Gene

mRNA differential expression in normal tissues according to GTEx for DYNC1LI2 Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x4.4).

Protein differential expression in normal tissues from HIPED for DYNC1LI2 Gene

This gene is overexpressed in Fetal Brain (7.0) and Cervix (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DYNC1LI2 Gene



Protein tissue co-expression partners for DYNC1LI2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DYNC1LI2

SOURCE GeneReport for Unigene cluster for DYNC1LI2 Gene:

Hs.369068

Evidence on tissue expression from TISSUES for DYNC1LI2 Gene

  • Nervous system(4.9)
  • Liver(4.3)
  • Lung(3.4)
  • Skin(2.7)
  • Eye(2.5)
  • Kidney(2.5)
  • Muscle(2.2)
  • Heart(2.1)
genes like me logo Genes that share expression patterns with DYNC1LI2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for DYNC1LI2 Gene

Orthologs for DYNC1LI2 Gene

This gene was present in the common ancestor of animals.

Orthologs for DYNC1LI2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia DYNC1LI2 30 31
  • 97.87 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia DYNC1LI2 30 31
  • 93.9 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia DYNC1LI2 30 31
  • 93.27 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Dync1li2 30
  • 91.98 (n)
Mouse
(Mus musculus)
Mammalia Dync1li2 30 17 31
  • 90.45 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia DYNC1LI2 31
  • 88 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia DYNC1LI2 31
  • 59 (a)
OneToOne
Chicken
(Gallus gallus)
Aves DYNC1LI2 30 31
  • 81.31 (n)
OneToMany
-- 31
  • 77 (a)
OneToMany
-- 31
  • 58 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia DYNC1LI2 31
  • 77 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia dync1li2 30
  • 73.58 (n)
Zebrafish
(Danio rerio)
Actinopterygii dync1li2 30 31
  • 70.32 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000723 30
  • 54.44 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Dlic 30 31
  • 52.61 (n)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea dli-1 30 31
  • 48.19 (n)
OneToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.1475 30
Species where no ortholog for DYNC1LI2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Squirt (Ciona savignyi)
  • 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 DYNC1LI2 Gene

ENSEMBL:
Gene Tree for DYNC1LI2 (if available)
TreeFam:
Gene Tree for DYNC1LI2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DYNC1LI2: view image

Paralogs for DYNC1LI2 Gene

Paralogs for DYNC1LI2 Gene

(3) SIMAP similar genes for DYNC1LI2 Gene using alignment to 10 proteins:

  • DC1L2_HUMAN
  • B4DZP4_HUMAN
  • B4E2E0_HUMAN
  • E7EPL8_HUMAN
  • H3BU48_HUMAN
  • H3BUM4_HUMAN
  • J3KRI4_HUMAN
  • J3KRZ2_HUMAN
  • J3KSD2_HUMAN
  • J3QKK5_HUMAN
genes like me logo Genes that share paralogs with DYNC1LI2: view

Variants for DYNC1LI2 Gene

Additional dbSNP identifiers (rs#s) for DYNC1LI2 Gene

Variation tolerance for DYNC1LI2 Gene

Residual Variation Intolerance Score: 13.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.93; 19.34% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DYNC1LI2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DYNC1LI2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP and Structural Variations from Database of Genomic Variants (DGV) for DYNC1LI2 Gene

Disorders for DYNC1LI2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for DYNC1LI2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
bardet-biedl syndrome 7
  • bbs7
retinitis pigmentosa 3
  • rp3
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with DYNC1LI2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DYNC1LI2 Gene

Publications for DYNC1LI2 Gene

  1. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PMID: 16964243) Beausoleil SA … Gygi SP (Nature biotechnology 2006) 3 4
  2. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4
  3. Cytoplasmic dynein nomenclature. (PMID: 16260502) Pfister KK … Vallee RB (The Journal of cell biology 2005) 2 3
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

Products for DYNC1LI2 Gene

Sources for DYNC1LI2 Gene