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Aliases for DYNC2LI1 Gene

Aliases for DYNC2LI1 Gene

  • Dynein Cytoplasmic 2 Light Intermediate Chain 1 2 3 5
  • D2LIC 3 4
  • LIC3 3 4
  • Cytoplasmic Dynein 2 Light Intermediate Chain 1 3
  • Dynein 2 Light Intermediate Chain 4
  • CGI-60 3

External Ids for DYNC2LI1 Gene

Previous GeneCards Identifiers for DYNC2LI1 Gene

  • GC02P043913
  • GC02P044001

Summaries for DYNC2LI1 Gene

Entrez Gene Summary for DYNC2LI1 Gene

  • This gene encodes a protein that is a component of the dynein-2 microtubule motor protein complex that plays a role in the retrograde transport of cargo in primary cilia via the intraflagellar transport system. This gene is ubiquitously expressed and its protein, which localizes to the axoneme and Golgi apparatus, interacts directly with the cytoplasmic dynein 2 heavy chain 1 protein to form part of the multi-protein dynein-2 complex. Mutations in this gene produce defects in the dynein-2 complex which result in several types of ciliopathy including short-rib thoracic dysplasia 15 with polydactyly (SRTD15). Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Feb 2017]

GeneCards Summary for DYNC2LI1 Gene

DYNC2LI1 (Dynein Cytoplasmic 2 Light Intermediate Chain 1) is a Protein Coding gene. Diseases associated with DYNC2LI1 include Short-Rib Thoracic Dysplasia 15 With Polydactyly and Ellis-Van Creveld Syndrome. Among its related pathways are Organelle biogenesis and maintenance and Intraflagellar transport. Gene Ontology (GO) annotations related to this gene include motor activity.

UniProtKB/Swiss-Prot for DYNC2LI1 Gene

  • Required for correct intraflagellar transport (IFT), the bi-directional movement of particles required for the assembly, maintenance and functioning of primary cilia. Involved in the regulation of ciliary length.

Additional gene information for DYNC2LI1 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DYNC2LI1 Gene

Genomics for DYNC2LI1 Gene

GeneHancer (GH) Regulatory Elements for DYNC2LI1 Gene

Promoters and enhancers for DYNC2LI1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J043773 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 660.4 +0.2 234 1.7 PKNOX1 ZFP64 ARID4B SIN3A DMAP1 ZNF213 ZNF207 ZNF143 DEK SP3 DYNC2LI1 RN7SKP66 LOC105374571 THADA PLEKHH2 ABCG8
GH02J043209 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 12.2 -563.1 -563066 2 HDGF PKNOX1 SMAD1 FOXA2 MLX ARID4B DMAP1 YY1 ZNF766 MCM3 RNU6-1048P PLEKHH2 THADA VDAC1P13 PDSS1P2 OXER1 DYNC2LI1 ZFP36L2 C1GALT1C1L LINC02580
GH02J043104 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 9.9 -666.1 -666056 6.8 HDGF HDAC1 PKNOX1 FOXA2 ARNT RAD21 RARA ZNF23 EGR1 IKZF2 THADA RNU6-1048P EML4 DYNC2LI1 OXER1 LOC105374570 GC02M043092 RNU6-242P LINC02580 GC02P042660
GH02J043048 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 9.9 -723.2 -723161 4.1 SIN3A RAD21 RARA RFX5 ZNF23 ZNF614 RCOR1 FOS ATF7 DEK RNU6-1048P PLEKHH2 THADA DYNC2LI1 LINC02590 PIR48377 GC02P042853 GC02P042660
GH02J043805 Enhancer 1.1 ENCODE dbSUPER 11.3 +33.7 33727 4 FOXA2 MLX ARID4B DMAP1 ETS1 YY1 ATF7 NFKBIZ RXRA ZHX2 ABCG5 ABCG8 DYNC2LI1 RN7SKP66 PLEKHH2 LOC105374571
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DYNC2LI1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DYNC2LI1 gene promoter:
  • FOXO3b
  • FOXO3a
  • FOXO3
  • COUP-TF1
  • COUP
  • HNF-4alpha1
  • HNF-4alpha2
  • HNF-1
  • AML1a

Genomic Locations for DYNC2LI1 Gene

Genomic Locations for DYNC2LI1 Gene
53,912 bases
Plus strand
35,972 bases
Plus strand

Genomic View for DYNC2LI1 Gene

Genes around DYNC2LI1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DYNC2LI1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DYNC2LI1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DYNC2LI1 Gene

Proteins for DYNC2LI1 Gene

  • Protein details for DYNC2LI1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Cytoplasmic dynein 2 light intermediate chain 1
    Protein Accession:
    Secondary Accessions:
    • A8MVJ5
    • Q53F57
    • Q6PDB2
    • Q8IWA3
    • Q96B03
    • Q96J00
    • Q9Y370
    • Q9Y3S9

    Protein attributes for DYNC2LI1 Gene

    351 amino acids
    Molecular mass:
    39625 Da
    Quaternary structure:
    • The cytoplasmic dynein complex 2 is probably composed by a DYNC2H1 homodimer and a number of DYNC2LI1 light intermediate chains.
    • Sequence=AAD34055.1; Type=Frameshift; Positions=163, 167; Evidence={ECO:0000305};

    Alternative splice isoforms for DYNC2LI1 Gene


neXtProt entry for DYNC2LI1 Gene

Post-translational modifications for DYNC2LI1 Gene

  • Ubiquitination at posLast=329329
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for DYNC2LI1 Gene

Domains & Families for DYNC2LI1 Gene

Gene Families for DYNC2LI1 Gene

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

Protein Domains for DYNC2LI1 Gene

Suggested Antigen Peptide Sequences for DYNC2LI1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the dynein light intermediate chain family.
  • Belongs to the dynein light intermediate chain family.
genes like me logo Genes that share domains with DYNC2LI1: view

Function for DYNC2LI1 Gene

Molecular function for DYNC2LI1 Gene

UniProtKB/Swiss-Prot Function:
Required for correct intraflagellar transport (IFT), the bi-directional movement of particles required for the assembly, maintenance and functioning of primary cilia. Involved in the regulation of ciliary length.

Phenotypes From GWAS Catalog for DYNC2LI1 Gene

Gene Ontology (GO) - Molecular Function for DYNC2LI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21252941
GO:0008569 contributes_to ATP-dependent microtubule motor activity, minus-end-directed IDA 21723285
GO:0045504 dynein heavy chain binding IEA,IBA --
genes like me logo Genes that share ontologies with DYNC2LI1: view
genes like me logo Genes that share phenotypes with DYNC2LI1: view

Human Phenotype Ontology for DYNC2LI1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DYNC2LI1 Gene

MGI Knock Outs for DYNC2LI1:

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for DYNC2LI1 Gene

Localization for DYNC2LI1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DYNC2LI1 Gene

Cytoplasm. Cell projection, cilium. Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton, cilium axoneme. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Note=Localizes to the apical cytoplasm. {ECO:0000250 UniProtKB:Q8K0T2}.

Subcellular locations from

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 DYNC2LI1 gene
Compartment Confidence
cytoskeleton 5
cytosol 3
peroxisome 2
nucleus 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for DYNC2LI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA,IEA 26130459
GO:0005813 centrosome IDA 26130459
GO:0005815 microtubule organizing center IEA --
GO:0005856 cytoskeleton IEA --
GO:0005868 cytoplasmic dynein complex ISS 12802074
genes like me logo Genes that share ontologies with DYNC2LI1: view

Pathways & Interactions for DYNC2LI1 Gene

genes like me logo Genes that share pathways with DYNC2LI1: view

Pathways by source for DYNC2LI1 Gene

Gene Ontology (GO) - Biological Process for DYNC2LI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007275 multicellular organism development IEA --
GO:0007368 determination of left/right symmetry IEA --
GO:0030030 cell projection organization IEA --
GO:0035721 intraciliary retrograde transport IBA --
GO:0035735 intraciliary transport involved in cilium assembly TAS,IMP --
genes like me logo Genes that share ontologies with DYNC2LI1: view

No data available for SIGNOR curated interactions for DYNC2LI1 Gene

Drugs & Compounds for DYNC2LI1 Gene

No Compound Related Data Available

Transcripts for DYNC2LI1 Gene

Unigene Clusters for DYNC2LI1 Gene

Dynein, cytoplasmic 2, light intermediate chain 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for DYNC2LI1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b · 8c ^ 9a · 9b ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14a · 14b ^ 15a · 15b
SP1: - - - - - -
SP2: - - - - - -
SP3: - - -
SP4: - -
SP5: -
SP6: - - -
SP7: - - - - -
SP8: -

Relevant External Links for DYNC2LI1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for DYNC2LI1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DYNC2LI1 Gene

Protein differential expression in normal tissues from HIPED for DYNC2LI1 Gene

This gene is overexpressed in Testis (48.8), Ovary (7.6), and Peripheral blood mononuclear cells (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DYNC2LI1 Gene

Protein tissue co-expression partners for DYNC2LI1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DYNC2LI1 Gene:


SOURCE GeneReport for Unigene cluster for DYNC2LI1 Gene:


mRNA Expression by UniProt/SwissProt for DYNC2LI1 Gene:

Tissue specificity: Expressed in bone, brain, kidney, and cartilage (PubMed:26077881, PubMed:26130459). Lower expression in heart, liver, lung, placenta and thymus (PubMed:26077881).

Evidence on tissue expression from TISSUES for DYNC2LI1 Gene

  • Nervous system(4.4)
  • Kidney(4.3)
genes like me logo Genes that share expression patterns with DYNC2LI1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for DYNC2LI1 Gene

Orthologs for DYNC2LI1 Gene

This gene was present in the common ancestor of animals.

Orthologs for DYNC2LI1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia DYNC2LI1 34 33
  • 99.24 (n)
(Canis familiaris)
Mammalia DYNC2LI1 34 33
  • 92.72 (n)
(Bos Taurus)
Mammalia DYNC2LI1 34 33
  • 91.36 (n)
(Monodelphis domestica)
Mammalia DYNC2LI1 34
  • 84 (a)
(Mus musculus)
Mammalia Dync2li1 16 34 33
  • 83.95 (n)
(Ornithorhynchus anatinus)
Mammalia DYNC2LI1 34
  • 68 (a)
(Gallus gallus)
Aves DYNC2LI1 34 33
  • 73.1 (n)
(Anolis carolinensis)
Reptilia DYNC2LI1 34
  • 70 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100498570 33
  • 70.27 (n)
(Danio rerio)
Actinopterygii dync2li1 34 33
  • 62.33 (n)
zgc63673 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4280 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010165 33
  • 46.27 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG3769 34 33
  • 45.31 (n)
(Caenorhabditis elegans)
Secernentea xbx-1 34 33
  • 50.53 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 39 (a)
Species where no ortholog for DYNC2LI1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • rat (Rattus norvegicus)
  • 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 DYNC2LI1 Gene

Gene Tree for DYNC2LI1 (if available)
Gene Tree for DYNC2LI1 (if available)
Evolutionary constrained regions (ECRs) for DYNC2LI1: view image

Paralogs for DYNC2LI1 Gene

No data available for Paralogs for DYNC2LI1 Gene

Variants for DYNC2LI1 Gene

Sequence variations from dbSNP and Humsavar for DYNC2LI1 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs114549158 uncertain-significance, Sitosterolemia 43,825,028(+) C/A genic_downstream_transcript_variant, intron_variant
rs114868704 uncertain-significance, Sitosterolemia 43,812,831(+) C/G/T genic_downstream_transcript_variant, intron_variant
rs119479065 pathogenic, Sitosterolemia 43,824,015(+) G/A genic_downstream_transcript_variant, intron_variant
rs119479066 pathogenic, Sitosterolemia 43,826,429(+) G/A genic_downstream_transcript_variant, intron_variant
rs119479067 pathogenic, Sitosterolemia 43,823,981(+) C/G/T genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for DYNC2LI1 Gene

Variant ID Type Subtype PubMed ID
dgv59n68 CNV gain 17160897
esv3590535 CNV gain 21293372
esv3590537 CNV loss 21293372
esv3891993 CNV gain 25118596
nsv1007740 CNV gain 25217958
nsv1012126 CNV gain 25217958
nsv457174 CNV gain 19166990
nsv581661 CNV gain 21841781
nsv998912 CNV gain 25217958

Variation tolerance for DYNC2LI1 Gene

Residual Variation Intolerance Score: 77% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.58; 82.55% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DYNC2LI1 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DYNC2LI1 Gene

Disorders for DYNC2LI1 Gene

MalaCards: The human disease database

(8) MalaCards diseases for DYNC2LI1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards


  • Short-rib thoracic dysplasia 15 with polydactyly (SRTD15) [MIM:617088]: 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:26077881, ECO:0000269 PubMed:26130459}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for DYNC2LI1

genes like me logo Genes that share disorders with DYNC2LI1: view

No data available for Genatlas for DYNC2LI1 Gene

Publications for DYNC2LI1 Gene

  1. Identification of a novel light intermediate chain (D2LIC) for mammalian cytoplasmic dynein 2. (PMID: 11907264) Grissom PM … McIntosh JR (Molecular biology of the cell 2002) 2 3 4 58
  2. Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. (PMID: 10810093) Lai CH … Lin W (Genome research 2000) 2 3 4 58
  3. Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome. (PMID: 26077881) Taylor SP … Krakow D (Nature communications 2015) 3 4 58
  4. DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects. (PMID: 26130459) Kessler K … Thiel CT (Scientific reports 2015) 3 4 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for DYNC2LI1 Gene

Sources for DYNC2LI1 Gene

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