Property Summary

NCBI Gene PubMed Count 11
PubMed Score 9.87
PubTator Score 5.92

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (3)

Disease Target Count P-value
psoriasis 6685 1.52216137266922E-9
posterior fossa group B ependymoma 1530 1.40475354990294E-8
Pick disease 1893 1.80399254084245E-4
ovarian cancer 8492 3.57624926904746E-4
interstitial cystitis 2299 0.00273846869486314
osteosarcoma 7933 0.00397057243622522
progressive supranuclear palsy 674 0.0144724901324336
chronic rhinosinusitis 512 0.0328399349308848
Disease Target Count Z-score Confidence
Situs Inversus 52 4.024 2.0
Polydactyly 93 3.33 1.7

Expression

  Differential Expression (8)

Disease log2 FC p
posterior fossa group B ependymoma 1.600 0.000
psoriasis -1.400 0.000
osteosarcoma 1.150 0.004
interstitial cystitis -1.100 0.003
Pick disease -1.100 0.000
progressive supranuclear palsy -1.200 0.014
ovarian cancer -1.700 0.000
chronic rhinosinusitis -1.209 0.033

Synonym

Gene

  Ortholog (15)

Species Source
Chimp OMA EggNOG
Macaque OMA EggNOG
Mouse OMA EggNOG Inparanoid
Rat OMA EggNOG Inparanoid
Dog OMA EggNOG Inparanoid
Horse OMA EggNOG Inparanoid
Cow OMA EggNOG Inparanoid
Opossum EggNOG Inparanoid
Platypus OMA EggNOG Inparanoid
Chicken OMA EggNOG Inparanoid
Anole lizard OMA EggNOG Inparanoid
Xenopus OMA EggNOG
Zebrafish OMA EggNOG Inparanoid
C. elegans OMA EggNOG Inparanoid
Fruitfly EggNOG Inparanoid

Gene RIF (3)

PMID Text
26130459 depletion of DYNC2LI1 induced altered cilia morphology with broadened ciliary tips and accumulation of intraflagellar transport complexes (IFT-B) complex proteins in accordance with retrograde IFT defects.
26077881 DYNC2LI1 is essential for dynein-2 complex stability and that mutations in DYNC2LI1 result in variable length, including hyperelongated, cilia, Hedgehog pathway impairment and ciliary IFT accumulations, causing short rib polydactyly syndrome.
25231297 HIV-1 CA uncoating is delayed in the presence of ciliobrevin D, a specific inhibitor of dynein-mediated motor function, indicating that dynein is involved in CA uncoating in cells

AA Sequence

MPSETLWEIAKAEVEKRGINGSEGDGAEIAEKFVFFIGSKNGGKTTIILRCLDRDEPPKPTLALEYTYGR      1 - 70
RAKGHNTPKDIAHFWELGGGTSLLDLISIPITGDTLRTFSLVLVLDLSKPNDLWPTMENLLQATKSHVDK     71 - 140
VIMKLGKTNAKAVSEMRQKIWNNMPKDHPDHELIDPFPVPLVIIGSKYDVFQDFESEKRKVICKTLRFVA    141 - 210
HYYGASLMFTSKSEALLLKIRGVINQLAFGIDKSKSICVDQNKPLFITAGLDSFGQIGSPPVPENDIGKL    211 - 280
HAHSPMELWKKVYEKLFPPKSINTLKDIKDPARDPQYAENEVDEMRIQKDLELEQYKRSSSKSWKQIELD    281 - 350
S//

Text Mined References (15)

PMID Year Title
26130459 2015 DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects.
26077881 2015 Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome.
21269460 2011 Initial characterization of the human central proteome.
21252941 2011 BAG3 mediates chaperone-based aggresome-targeting and selective autophagy of misfolded proteins.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
17207965 2007 hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes.
15815621 2005 Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
12802074 2003 A novel dynein light intermediate chain colocalizes with the retrograde motor for intraflagellar transport at sites of axoneme assembly in chlamydomonas and Mammalian cells.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
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