Details for: DYNC2LI1

Gene ID: 51626

Symbol: DYNC2LI1

Ensembl ID: ENSG00000138036

Description: dynein cytoplasmic 2 light intermediate chain 1

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 220.0003
    Cell Significance Index: -34.2200
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 129.3548
    Cell Significance Index: -32.8100
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 69.4142
    Cell Significance Index: -28.2000
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 52.5914
    Cell Significance Index: -35.2900
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 29.4687
    Cell Significance Index: -28.1400
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 28.6709
    Cell Significance Index: -35.3500
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 12.4008
    Cell Significance Index: -33.2200
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 8.9837
    Cell Significance Index: -35.4500
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 2.1049
    Cell Significance Index: 422.2500
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 1.7089
    Cell Significance Index: 277.9400
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 1.6719
    Cell Significance Index: 32.6300
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 1.5911
    Cell Significance Index: 100.2800
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 1.3467
    Cell Significance Index: 156.9400
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 1.2768
    Cell Significance Index: 76.6500
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 1.1922
    Cell Significance Index: 129.6700
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 1.1811
    Cell Significance Index: 9.4300
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 1.1625
    Cell Significance Index: 51.4200
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 1.1160
    Cell Significance Index: 42.2600
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.7564
    Cell Significance Index: 271.3200
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.7476
    Cell Significance Index: 38.8400
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.7287
    Cell Significance Index: 397.9700
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.7159
    Cell Significance Index: 15.5100
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.7097
    Cell Significance Index: 97.4600
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.7047
    Cell Significance Index: 139.8500
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.6611
    Cell Significance Index: 596.9000
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.5914
    Cell Significance Index: 7.0500
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.5049
    Cell Significance Index: 28.3400
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.5046
    Cell Significance Index: 90.9600
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.4532
    Cell Significance Index: 27.8600
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.4483
    Cell Significance Index: 310.0800
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.4075
    Cell Significance Index: 11.7400
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.4027
    Cell Significance Index: 27.0800
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.3555
    Cell Significance Index: 43.7100
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 0.3343
    Cell Significance Index: 9.5400
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.3320
    Cell Significance Index: 4.5300
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.2907
    Cell Significance Index: 128.5200
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.2637
    Cell Significance Index: 33.8100
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.2512
    Cell Significance Index: 6.7300
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.2250
    Cell Significance Index: 10.4900
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.2227
    Cell Significance Index: 42.3900
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.2152
    Cell Significance Index: 21.2900
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.2078
    Cell Significance Index: 15.9500
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.1749
    Cell Significance Index: 4.6000
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: 0.1609
    Cell Significance Index: 1.0900
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.1187
    Cell Significance Index: 223.4900
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0760
    Cell Significance Index: 140.0800
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.0703
    Cell Significance Index: 9.0800
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0699
    Cell Significance Index: 107.5700
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 0.0659
    Cell Significance Index: 1.5800
  • Cell Name: peg cell (CL4033014)
    Fold Change: 0.0641
    Cell Significance Index: 1.4800
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0591
    Cell Significance Index: 37.5500
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.0569
    Cell Significance Index: 1.5500
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.0475
    Cell Significance Index: 3.5400
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.0367
    Cell Significance Index: 16.6600
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.0286
    Cell Significance Index: 0.3600
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.0247
    Cell Significance Index: 0.6900
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0040
    Cell Significance Index: 5.5000
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0009
    Cell Significance Index: 0.6900
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0185
    Cell Significance Index: -2.6900
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.0273
    Cell Significance Index: -1.9300
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0330
    Cell Significance Index: -24.4100
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0353
    Cell Significance Index: -26.7300
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0505
    Cell Significance Index: -2.2900
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0545
    Cell Significance Index: -9.3000
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0576
    Cell Significance Index: -32.5100
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0637
    Cell Significance Index: -39.7600
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0669
    Cell Significance Index: -6.8300
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: -0.0703
    Cell Significance Index: -1.0100
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0737
    Cell Significance Index: -1.5700
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1018
    Cell Significance Index: -29.2900
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.1153
    Cell Significance Index: -1.9300
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1784
    Cell Significance Index: -37.5700
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1830
    Cell Significance Index: -20.9700
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.1884
    Cell Significance Index: -22.2200
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.1945
    Cell Significance Index: -9.1400
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.2241
    Cell Significance Index: -14.4600
  • Cell Name: thyroid follicular cell (CL0002258)
    Fold Change: -0.2334
    Cell Significance Index: -2.4800
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.2352
    Cell Significance Index: -5.1500
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.2385
    Cell Significance Index: -12.5200
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.2757
    Cell Significance Index: -13.9300
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.2799
    Cell Significance Index: -29.1400
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.2882
    Cell Significance Index: -9.2300
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.2912
    Cell Significance Index: -7.2800
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.3100
    Cell Significance Index: -24.5500
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.3560
    Cell Significance Index: -9.1500
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.3671
    Cell Significance Index: -12.7600
  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: -0.3758
    Cell Significance Index: -2.3300
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.4339
    Cell Significance Index: -9.2100
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.4390
    Cell Significance Index: -12.5900
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.4685
    Cell Significance Index: -14.9200
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.4778
    Cell Significance Index: -24.8900
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.4947
    Cell Significance Index: -30.3300
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.5076
    Cell Significance Index: -16.6200
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.5860
    Cell Significance Index: -17.2600
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.5861
    Cell Significance Index: -11.5900
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.5988
    Cell Significance Index: -8.8400
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.6093
    Cell Significance Index: -16.2700
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.6493
    Cell Significance Index: -13.5900
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.6665
    Cell Significance Index: -23.3500
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.6779
    Cell Significance Index: -13.6100

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Dynein complex**: DYNC2LI1 is a crucial component of the cytoplasmic dynein complex, a motor protein responsible for retrograde transport within cilia and flagella. 2. **Ciliary function**: DYNC2LI1 plays a vital role in the assembly and maintenance of cilia, ensuring proper intraciliary transport and cilium function. 3. **Intraciliary transport**: The protein is involved in the retrograde transport of cargo within the cilium, regulating the movement of molecules and organelles. 4. **Cellular regulation**: DYNC2LI1 is expressed in various cell types, including those involved in the immune system, epithelial cells, and hematopoietic cells, highlighting its role in regulating cellular processes. **Pathways and Functions:** 1. **Apical part of cell**: DYNC2LI1 is involved in the regulation of cilia assembly and function, ensuring proper apical cell structure and function. 2. **Axoneme**: The protein is a component of the axoneme, the core structure of cilia and flagella, regulating the movement of the cilium. 3. **Centrosome**: DYNC2LI1 is involved in the regulation of centrosome function and cilia assembly. 4. **Ciliary basal body**: The protein plays a role in the regulation of the ciliary basal body, the structure that anchors the cilium to the cell membrane. 5. **Ciliary tip**: DYNC2LI1 is involved in the regulation of the ciliary tip, the distal end of the cilium, ensuring proper cilium function. 6. **Ciliary transition zone**: The protein is involved in the regulation of the ciliary transition zone, the region where the cilium meets the cell membrane. 7. **Intraciliary retrograde transport**: DYNC2LI1 regulates the retrograde transport of cargo within the cilium, ensuring proper movement of molecules and organelles. 8. **Intraflagellar transport**: The protein is involved in the regulation of intraflagellar transport, the movement of molecules and organelles within the cilium. **Clinical Significance:** 1. **Ciliary dyskinesia**: Mutations in DYNC2LI1 have been associated with ciliary dyskinesia, a disorder characterized by impaired cilia function and associated with respiratory and immune system disorders. 2. **Immunodeficiency**: DYNC2LI1 is expressed in hematopoietic cells, and mutations in this gene have been linked to immunodeficiency disorders. 3. **Respiratory diseases**: Impaired cilia function due to DYNC2LI1 mutations can lead to respiratory diseases, such as bronchiectasis and chronic obstructive pulmonary disease (COPD). 4. **Neurological disorders**: Mutations in DYNC2LI1 have been associated with neurological disorders, including autism spectrum disorder and intellectual disability. In conclusion, DYNC2LI1 is a critical gene involved in regulating ciliary function and cellular processes. Its dysregulation can lead to various diseases, highlighting the importance of this gene in maintaining cellular homeostasis and overall health.

Genular Protein ID: 2241096845

Symbol: DC2L1_HUMAN

Name: Cytoplasmic dynein 2 light intermediate chain 1

UniProtKB Accession Codes:

Q8TCX1 A8MVJ5 Q53F57 Q6PDB2 Q8IWA3 Q96B03 Q96J00 Q9Y370 Q9Y3S9

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 3 CORUM 1 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 12 EMDB 2 Ensembl 4 ExpressionAtlas 1 GO 18 GeneCards 1 GeneReviews 1 GeneTree 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 3 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 3 PDBsum 3 PIR 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 5 Pumba 1 RNAct 1 Reactome 1 RefSeq 3 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 11907264

Title: Identification of a novel light intermediate chain (D2LIC) for mammalian cytoplasmic dynein 2.

PubMed ID: 11907264

DOI: 10.1091/mbc.01-08-0402

PubMed ID: 10810093

Title: Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics.

PubMed ID: 10810093

DOI: 10.1101/gr.10.5.703

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 17974005

Title: The full-ORF clone resource of the German cDNA consortium.

PubMed ID: 17974005

DOI: 10.1186/1471-2164-8-399

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 25205765

Title: Subunit composition of the human cytoplasmic dynein-2 complex.

PubMed ID: 25205765

DOI: 10.1242/jcs.159038

PubMed ID: 26077881

Title: Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome.

PubMed ID: 26077881

DOI: 10.1038/ncomms8092

PubMed ID: 26130459

Title: DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects.

PubMed ID: 26130459

DOI: 10.1038/srep11649

PubMed ID: 29742051

Title: Interaction of WDR60 intermediate chain with TCTEX1D2 light chain of the dynein-2 complex is crucial for ciliary protein trafficking.

PubMed ID: 29742051

DOI: 10.1091/mbc.e18-03-0173

PubMed ID: 31451806

Title: Structure of the dynein-2 complex and its assembly with intraflagellar transport trains.

PubMed ID: 31451806

DOI: 10.1038/s41594-019-0286-y

Sequence Information:

  • Length: 351
  • Mass: 39625
  • Checksum: BB4BB8B528D4A99A
  • Sequence:
    • MPSETLWEIA KAEVEKRGIN GSEGDGAEIA EKFVFFIGSK NGGKTTIILR CLDRDEPPKP 
TLALEYTYGR RAKGHNTPKD IAHFWELGGG TSLLDLISIP ITGDTLRTFS LVLVLDLSKP 
NDLWPTMENL LQATKSHVDK VIMKLGKTNA KAVSEMRQKI WNNMPKDHPD HELIDPFPVP 
LVIIGSKYDV FQDFESEKRK VICKTLRFVA HYYGASLMFT SKSEALLLKI RGVINQLAFG 
IDKSKSICVD QNKPLFITAG LDSFGQIGSP PVPENDIGKL HAHSPMELWK KVYEKLFPPK 
SINTLKDIKD PARDPQYAEN EVDEMRIQKD LELEQYKRSS SKSWKQIELD S

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.