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Aliases for DYNC2LI1 Gene

Aliases for DYNC2LI1 Gene

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

External Ids for DYNC2LI1 Gene

Previous GeneCards Identifiers for DYNC2LI1 Gene

  • GC02P043913
  • GC02P044001

Summaries for DYNC2LI1 Gene

GeneCards Summary for DYNC2LI1 Gene

DYNC2LI1 (Dynein Cytoplasmic 2 Light Intermediate Chain 1) is a Protein Coding gene. Diseases associated with DYNC2LI1 include visceral heterotaxy. Among its related pathways are Transport to the Golgi and subsequent modification and Immune System. GO annotations related to this gene include motor activity.

UniProtKB/Swiss-Prot for DYNC2LI1 Gene

  • May function as a motor for intraflagellar retrograde transport. Functions in cilia biogenesis (By similarity).

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

Genomics for DYNC2LI1 Gene

Regulatory Elements for DYNC2LI1 Gene

Promoters for DYNC2LI1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around DYNC2LI1 on UCSC Golden Path with GeneCards custom track

Genomic Location for DYNC2LI1 Gene

Chromosome:
2
Start:
43,774,039 bp from pter
End:
43,827,950 bp from pter
Size:
53,912 bases
Orientation:
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:
    Q8TCX1-DC2L1_HUMAN
    Recommended name:
    Cytoplasmic dynein 2 light intermediate chain 1
    Protein Accession:
    Q8TCX1
    Secondary Accessions:
    • A8MVJ5
    • Q53F57
    • Q6PDB2
    • Q8IWA3
    • Q96B03
    • Q96J00
    • Q9Y370
    • Q9Y3S9

    Protein attributes for DYNC2LI1 Gene

    Size:
    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.
    SequenceCaution:
    • Sequence=AAD34055.1; Type=Frameshift; Positions=163, 167; Evidence={ECO:0000305};

    Alternative splice isoforms for DYNC2LI1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DYNC2LI1 Gene

Proteomics data for DYNC2LI1 Gene at MOPED

Post-translational modifications for DYNC2LI1 Gene

  • Ubiquitination at Lys 329
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for DYNC2LI1 Gene

Domains & Families for DYNC2LI1 Gene

Gene Families for DYNC2LI1 Gene

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

Q8TCX1

UniProtKB/Swiss-Prot:

DC2L1_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 DYNC2LI1: view

Function for DYNC2LI1 Gene

Molecular function for DYNC2LI1 Gene

UniProtKB/Swiss-Prot Function:
May function as a motor for intraflagellar retrograde transport. Functions in cilia biogenesis (By similarity).
genes like me logo Genes that share phenotypes with DYNC2LI1: view

Animal Models for DYNC2LI1 Gene

MGI Knock Outs for DYNC2LI1:

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for DYNC2LI1 Gene

Localization for DYNC2LI1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DYNC2LI1 Gene

Cytoplasm, cytoskeleton, cilium axoneme. Cytoplasm. Note=Localizes to the apical cytoplasm. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DYNC2LI1 Gene COMPARTMENTS Subcellular localization image for DYNC2LI1 gene
Compartment Confidence
cytosol 5
cytoskeleton 4
nucleus 2
peroxisome 2

Gene Ontology (GO) - Cellular Components for DYNC2LI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005858 axonemal dynein complex ISS 12802074
GO:0005881 colocalizes_with cytoplasmic microtubule ISS --
GO:0031512 motile primary cilium IEA,ISS --
GO:0045177 apical part of cell IEA,ISS --
GO:0097542 ciliary tip TAS --
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:0019886 antigen processing and presentation of exogenous peptide antigen via MHC class II TAS --
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:

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: -
SP9:

Relevant External Links for DYNC2LI1 Gene

GeneLoc Exon Structure for
DYNC2LI1
ECgene alternative splicing isoforms for
DYNC2LI1

Expression for DYNC2LI1 Gene

mRNA expression in normal human tissues 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, PaxDb, MOPED, and MaxQB for DYNC2LI1 Gene



SOURCE GeneReport for Unigene cluster for DYNC2LI1 Gene Hs.371597

genes like me logo Genes that share expression patterns with DYNC2LI1: view

Protein tissue co-expression partners for DYNC2LI1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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
cow
(Bos Taurus)
Mammalia DYNC2LI1 35
  • 91.36 (n)
  • 89.74 (a)
DYNC2LI1 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DYNC2LI1 35
  • 92.72 (n)
  • 91.67 (a)
DYNC2LI1 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dync2li1 35
  • 83.95 (n)
  • 87.75 (a)
Dync2li1 16
Dync2li1 36
  • 88 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia DYNC2LI1 35
  • 99.24 (n)
  • 98.01 (a)
DYNC2LI1 36
  • 98 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DYNC2LI1 36
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DYNC2LI1 36
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves DYNC2LI1 35
  • 73.1 (n)
  • 66.28 (a)
DYNC2LI1 36
  • 65 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DYNC2LI1 36
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100498570 35
  • 70.27 (n)
  • 68.83 (a)
zebrafish
(Danio rerio)
Actinopterygii dync2li1 35
  • 62.33 (n)
  • 60.4 (a)
zgc63673 35
dync2li1 36
  • 58 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4280 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010165 35
  • 46.27 (n)
  • 40.91 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG3769 35
  • 45.31 (n)
  • 36.61 (a)
CG3769 36
  • 30 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea xbx-1 35
  • 50.53 (n)
  • 37.18 (a)
xbx-1 36
  • 31 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 39 (a)
OneToOne
Species with no ortholog for DYNC2LI1:
  • 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

ENSEMBL:
Gene Tree for DYNC2LI1 (if available)
TreeFam:
Gene Tree for DYNC2LI1 (if available)

Paralogs for DYNC2LI1 Gene

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

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 Sequence Context AA Info Type
rs2288709 - 43,776,871(-) AAACA(A/C/G)ATTTT reference, missense
rs17854966 - 43,787,191(+) AACCA(C/T)CAAAA reference, missense
rs11556157 - 43,800,874(+) TAAAA(A/T)TACGT reference, missense
rs725238 -- 43,772,043(-) TGGTG(A/G)AGCTA upstream-variant-2KB
rs1025447 -- 43,795,831(-) TAGCA(A/G)TTTCT intron-variant

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

Variant ID Type Subtype PubMed ID
dgv59n68 CNV Gain 17160897
nsv873978 CNV Loss 21882294
nsv873979 CNV Loss 21882294
nsv457174 CNV Gain 19166990
nsv873980 CNV Loss 21882294

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)

Relevant External Links for DYNC2LI1 Gene

HapMap Linkage Disequilibrium report
DYNC2LI1
Human Gene Mutation Database (HGMD)
DYNC2LI1

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

Disorders for DYNC2LI1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for DYNC2LI1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
visceral heterotaxy
  • heterotaxia
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for DYNC2LI1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DYNC2LI1
genes like me logo Genes that share disorders with DYNC2LI1: view

No data available for UniProtKB/Swiss-Prot and 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 P.M. … McIntosh J.R. (Mol. Biol. Cell 2002) 2 3 4 67
  2. Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. (PMID: 10810093) Lai C.-H. … Lin W.-C. (Genome Res. 2000) 2 3
  3. Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome. (PMID: 26077881) Taylor S.P. … Krakow D. (Nat Commun 2015) 3
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. HIV-1 uncoating is facilitated by dynein and kinesin 1. (PMID: 25231297) Lukic Z. … Campbell E.M. (J. Virol. 2014) 3

Products for DYNC2LI1 Gene

Sources for DYNC2LI1 Gene

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