Type |
Details |
Score |
Gene |
Type: |
gene |
Organism: |
human |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
frog, western clawed |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
dog, domestic |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
chimpanzee |
|
•
•
•
•
•
|
Gene |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
cattle |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
chicken |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
zebrafish |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
macaque, rhesus |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Family |
Description: |
This entry includes cytoplasmic dynein 2 light intermediate chain 1 (DYNC2LI1), which is required for correct intraflagellar transport and the bi-directional movement of components required for the assembly, maintenance and functioning of primary cilia [, , ]. DYNC2LI1 is a component of and stabilizes the dynein-2 complex, which is important for left-right axis determination during embryonic development []. Mutations in the DYNC2LI1 gene cause cause short rib polydactyly syndrome, an autosomal recessive, perinatal lethal skeletal disorder characterized by short, horizontal ribs, short limbs and polydactyly []. |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Publication |
First Author: |
Perrone CA |
Year: |
2003 |
Journal: |
Mol Biol Cell |
Title: |
A novel dynein light intermediate chain colocalizes with the retrograde motor for intraflagellar transport at sites of axoneme assembly in chlamydomonas and Mammalian cells. |
Volume: |
14 |
Issue: |
5 |
Pages: |
2041-56 |
|
•
•
•
•
•
|
Publication |
First Author: |
Rana AA |
Year: |
2004 |
Journal: |
Development |
Title: |
Targeted deletion of the novel cytoplasmic dynein mD2LIC disrupts the embryonic organiser, formation of the body axes and specification of ventral cell fates. |
Volume: |
131 |
Issue: |
20 |
Pages: |
4999-5007 |
|
•
•
•
•
•
|
Publication |
First Author: |
Kessler K |
Year: |
2015 |
Journal: |
Sci Rep |
Title: |
DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects. |
Volume: |
5 |
|
Pages: |
11649 |
|
•
•
•
•
•
|
Publication |
First Author: |
Taylor SP |
Year: |
2015 |
Journal: |
Nat Commun |
Title: |
Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome. |
Volume: |
6 |
|
Pages: |
7092 |
|
•
•
•
•
•
|
Publication |
First Author: |
Hou Y |
Year: |
2004 |
Journal: |
Mol Biol Cell |
Title: |
A dynein light intermediate chain, D1bLIC, is required for retrograde intraflagellar transport. |
Volume: |
15 |
Issue: |
10 |
Pages: |
4382-94 |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
351
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
Mus caroli |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
Mus pahari |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
Mus spretus |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:7574289 |
Assay Type: |
RT-PCR |
Annotation Date: |
2024-01-18 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1737325 |
|
Stage: |
TS25 |
Assay Id: |
MGI:7574351 |
Age: |
embryonic day 17.5 |
Image: |
4 |
|
Specimen Label: |
WT |
Detected: |
true |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:7574289 |
Assay Type: |
RT-PCR |
Annotation Date: |
2024-01-18 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1737325 |
|
Stage: |
TS25 |
Assay Id: |
MGI:7574351 |
Age: |
embryonic day 17.5 |
Image: |
4 |
|
Specimen Label: |
KO |
Detected: |
true |
Specimen Num: |
2 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:7574652 |
Assay Type: |
RT-PCR |
Annotation Date: |
2024-01-22 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1603919 |
|
Stage: |
TS19 |
Assay Id: |
MGI:7574732 |
Age: |
embryonic day 11.5 |
Image: |
4 |
|
Specimen Label: |
+/+ |
Detected: |
true |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:7574652 |
Assay Type: |
RT-PCR |
Annotation Date: |
2024-01-22 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1603919 |
|
Stage: |
TS19 |
Assay Id: |
MGI:7574732 |
Age: |
embryonic day 11.5 |
Image: |
4 |
|
Specimen Label: |
gpg6/gpg6 |
Detected: |
true |
Specimen Num: |
2 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:7719917 |
Assay Type: |
RT-PCR |
Annotation Date: |
2024-09-24 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1672822 |
|
Stage: |
TS22 |
Assay Id: |
MGI:7720036 |
Age: |
embryonic day 14.5 |
|
|
Specimen Label: |
S4 WT E14.5 |
Detected: |
true |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:7719917 |
Assay Type: |
RT-PCR |
Annotation Date: |
2024-09-24 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1672822 |
|
Stage: |
TS22 |
Assay Id: |
MGI:7720036 |
Age: |
embryonic day 14.5 |
|
|
Specimen Label: |
S4 KO E14.5 |
Detected: |
true |
Specimen Num: |
2 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:7719917 |
Assay Type: |
RT-PCR |
Annotation Date: |
2024-09-24 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1672825 |
|
Stage: |
TS25 |
Assay Id: |
MGI:7720036 |
Age: |
embryonic day 17.5 |
|
|
Specimen Label: |
S4 WT E17.5 |
Detected: |
true |
Specimen Num: |
3 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:7719917 |
Assay Type: |
RT-PCR |
Annotation Date: |
2024-09-24 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1672825 |
|
Stage: |
TS25 |
Assay Id: |
MGI:7720036 |
Age: |
embryonic day 17.5 |
|
|
Specimen Label: |
S4 KO E17.5 |
Detected: |
true |
Specimen Num: |
4 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:2683081 |
Assay Type: |
RNA in situ |
Annotation Date: |
2004-01-08 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1607510 |
Pattern: |
Not Specified |
Stage: |
TS10 |
Assay Id: |
MGI:2683410 |
Age: |
embryonic day 7.0 |
|
|
Specimen Label: |
E7.0 |
Detected: |
true |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:2683081 |
Assay Type: |
RNA in situ |
Annotation Date: |
2004-01-08 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1607511 |
Pattern: |
Not Specified |
Stage: |
TS11 |
Assay Id: |
MGI:2683410 |
Age: |
embryonic day 7.5 |
Image: |
E7.5 |
|
Specimen Label: |
E7.5 |
Detected: |
true |
Specimen Num: |
2 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:2683081 |
Assay Type: |
RNA in situ |
Annotation Date: |
2004-01-08 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1610518 |
Pattern: |
Not Specified |
Stage: |
TS18 |
Assay Id: |
MGI:2683410 |
Age: |
embryonic day 11.0 |
|
|
Specimen Label: |
E11 |
Detected: |
true |
Specimen Num: |
6 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:2683081 |
Assay Type: |
RNA in situ |
Annotation Date: |
2004-01-08 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1603913 |
Pattern: |
Uniform |
Stage: |
TS13 |
Assay Id: |
MGI:2683410 |
Age: |
embryonic day 8.5 |
|
|
Specimen Label: |
E8.5 |
Detected: |
true |
Specimen Num: |
3 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:2683081 |
Assay Type: |
RNA in situ |
Annotation Date: |
2004-01-08 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1603914 |
Pattern: |
Uniform |
Stage: |
TS14 |
Assay Id: |
MGI:2683410 |
Age: |
embryonic day 9.0 |
Image: |
E9.0 |
|
Specimen Label: |
E9.0 |
Detected: |
true |
Specimen Num: |
4 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:2683081 |
Assay Type: |
RNA in situ |
Annotation Date: |
2004-01-08 |
Strength: |
Strong |
Sex: |
Not Specified |
Emaps: |
EMAPS:1603915 |
Pattern: |
Uniform |
Stage: |
TS15 |
Assay Id: |
MGI:2683410 |
Age: |
embryonic day 9.5 |
Image: |
E9.5 |
|
Specimen Label: |
E9.5 |
Detected: |
true |
Specimen Num: |
5 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:2683081 |
Assay Type: |
RNA in situ |
Annotation Date: |
2004-01-08 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1624718 |
Pattern: |
Regionally restricted |
Stage: |
TS18 |
Assay Id: |
MGI:2683410 |
Age: |
embryonic day 11.0 |
|
Note: |
Expression is detected in the gut endoderm. |
Specimen Label: |
E11 |
Detected: |
true |
Specimen Num: |
6 |
|
•
•
•
•
•
|
Publication |
First Author: |
Bonnafe E |
Year: |
2004 |
Journal: |
Mol Cell Biol |
Title: |
The transcription factor RFX3 directs nodal cilium development and left-right asymmetry specification. |
Volume: |
24 |
Issue: |
10 |
Pages: |
4417-27 |
|
•
•
•
•
•
|
Publication |
First Author: |
Pfister KK |
Year: |
2005 |
Journal: |
J Cell Biol |
Title: |
Cytoplasmic dynein nomenclature. |
Volume: |
171 |
Issue: |
3 |
Pages: |
411-3 |
|
•
•
•
•
•
|
Publication |
First Author: |
Hai Q |
Year: |
2018 |
Journal: |
Arterioscler Thromb Vasc Biol |
Title: |
Quantitative Trait Locus Mapping of Macrophage Cholesterol Metabolism and CRISPR/Cas9 Editing Implicate an ACAT1 Truncation as a Causal Modifier Variant. |
Volume: |
38 |
Issue: |
1 |
Pages: |
83-91 |
|
•
•
•
•
•
|
Publication |
First Author: |
Smith SB |
Year: |
2010 |
Journal: |
Nature |
Title: |
Rfx6 directs islet formation and insulin production in mice and humans. |
Volume: |
463 |
Issue: |
7282 |
Pages: |
775-80 |
|
•
•
•
•
•
|
Publication |
First Author: |
Goggolidou P |
Year: |
2014 |
Journal: |
Development |
Title: |
ATMIN is a transcriptional regulator of both lung morphogenesis and ciliogenesis. |
Volume: |
141 |
Issue: |
20 |
Pages: |
3966-77 |
|
•
•
•
•
•
|
Publication |
First Author: |
Hossain Z |
Year: |
2007 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
Glomerulocystic kidney disease in mice with a targeted inactivation of Wwtr1. |
Volume: |
104 |
Issue: |
5 |
Pages: |
1631-6 |
|
•
•
•
•
•
|
Publication |
First Author: |
Sousa-Nunes R |
Year: |
2003 |
Journal: |
Genome Res |
Title: |
Characterizing embryonic gene expression patterns in the mouse using nonredundant sequence-based selection. |
Volume: |
13 |
Issue: |
12 |
Pages: |
2609-20 |
|
•
•
•
•
•
|
Publication |
First Author: |
Lee H |
Year: |
2020 |
Journal: |
BMB Rep |
Title: |
Cell cycle-related kinase is a crucial regulator for ciliogenesis and Hedgehog signaling in embryonic mouse lung development. |
Volume: |
53 |
Issue: |
7 |
Pages: |
367-372 |
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2002 |
|
Title: |
MGC Data curation in Mouse Genome Informatics |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Database and National Center for Biotechnology Information Editorial Staff Collaboration |
Year: |
2001 |
|
Title: |
LocusLink Collaboration |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
The Gene Ontology Consortium |
Year: |
2014 |
|
Title: |
Automated transfer of experimentally-verified manual GO annotation data to mouse-rat orthologs |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
DDB, FB, MGI, GOA, ZFIN curators |
Year: |
2001 |
|
Title: |
Gene Ontology annotation through association of InterPro records with GO terms |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2003 |
|
Title: |
MGI Sequence Curation Reference |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2002 |
|
Title: |
Chromosome assignment of mouse genes using the Mouse Genome Sequencing Consortium (MGSC) assembly and the ENSEMBL Database |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Kawai J |
Year: |
2001 |
Journal: |
Nature |
Title: |
Functional annotation of a full-length mouse cDNA collection. |
Volume: |
409 |
Issue: |
6821 |
Pages: |
685-90 |
|
•
•
•
•
•
|
Publication |
First Author: |
Zambrowicz BP |
Year: |
2003 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention. |
Volume: |
100 |
Issue: |
24 |
Pages: |
14109-14 |
|
•
•
•
•
•
|
Publication |
First Author: |
GemPharmatech |
Year: |
2020 |
|
Title: |
GemPharmatech Website. |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics (MGI) and National Center for Biotechnology Information (NCBI) |
Year: |
2008 |
Journal: |
Database Download |
Title: |
Mouse Gene Trap Data Load from dbGSS |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
AgBase, BHF-UCL, Parkinson's UK-UCL, dictyBase, HGNC, Roslin Institute, FlyBase and UniProtKB curators |
Year: |
2011 |
|
Title: |
Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
UniProt-GOA |
Year: |
2012 |
|
Title: |
Gene Ontology annotation based on UniProtKB/Swiss-Prot keyword mapping |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
GOA curators |
Year: |
2016 |
|
Title: |
Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
The Jackson Laboratory Mouse Radiation Hybrid Database |
Year: |
2004 |
Journal: |
Database Release |
Title: |
Mouse T31 Radiation Hybrid Data Load |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Okazaki Y |
Year: |
2002 |
Journal: |
Nature |
Title: |
Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. |
Volume: |
420 |
Issue: |
6915 |
Pages: |
563-73 |
|
•
•
•
•
•
|
Publication |
First Author: |
The Gene Ontology Consortium |
Year: |
2010 |
|
Title: |
Automated transfer of experimentally-verified manual GO annotation data to mouse-human orthologs |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Diez-Roux G |
Year: |
2011 |
Journal: |
PLoS Biol |
Title: |
A high-resolution anatomical atlas of the transcriptome in the mouse embryo. |
Volume: |
9 |
Issue: |
1 |
Pages: |
e1000582 |
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2002 |
|
Title: |
Mouse Genome Informatics Computational Sequence to Gene Associations |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2010 |
Journal: |
Database Download |
Title: |
Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome U74 Array Platform (A, B, C v2). |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
MGI Genome Annotation Group and UniGene Staff |
Year: |
2015 |
Journal: |
Database Download |
Title: |
MGI-UniGene Interconnection Effort |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Marc Feuermann, Huaiyu Mi, Pascale Gaudet, Dustin Ebert, Anushya Muruganujan, Paul Thomas |
Year: |
2010 |
|
Title: |
Annotation inferences using phylogenetic trees |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Database and National Center for Biotechnology Information |
Year: |
2000 |
Journal: |
Database Release |
Title: |
Entrez Gene Load |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Allen Institute for Brain Science |
Year: |
2004 |
Journal: |
Allen Institute |
Title: |
Allen Brain Atlas: mouse riboprobes |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2009 |
Journal: |
Database Download |
Title: |
Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Gene 1.0 ST Array Platform |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics (MGI) and The National Center for Biotechnology Information (NCBI) |
Year: |
2010 |
Journal: |
Database Download |
Title: |
Consensus CDS project |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Group |
Year: |
2003 |
Journal: |
Database Procedure |
Title: |
Automatic Encodes (AutoE) Reference |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Bairoch A |
Year: |
1999 |
Journal: |
Database Release |
Title: |
SWISS-PROT Annotated protein sequence database |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2005 |
|
Title: |
Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics |
Year: |
2010 |
Journal: |
Database Release |
Title: |
Protein Ontology Association Load. |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2005 |
|
Title: |
Obtaining and loading genome assembly coordinates from NCBI annotations |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2009 |
Journal: |
Database Download |
Title: |
Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome 430 2.0 Array Platform |
|
|
|
|
•
•
•
•
•
|