DYNC2LI1 - dynein cytoplasmic 2 light intermediate chain 1 Gene

Also Known as LIC3; D2LIC; CGI-60

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 51626

About DYNC2LI1

Cytogenetic location: 2p21 Genomic coordinates (GRCh38): 2:43,774,039-43,828,347 (from NCBI)

This gene has 10 transcripts (splice variants), 197 orthologues and is associated with 4 phenotypes. Ubiquitous expression in testis (RPKM 10.0), thyroid (RPKM 6.9) and 25 other tissues.

Summary

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]

DYNC2LI1 Products (5)

mRNA	Protein	Name
NM_001193464.2	NP_001180393.1	cytoplasmic dynein 2 light intermediate chain 1 isoform 4
NM_001348912.2	NP_001335841.1	cytoplasmic dynein 2 light intermediate chain 1 isoform 5
NM_001348913.2	NP_001335842.1	cytoplasmic dynein 2 light intermediate chain 1 isoform 6
NM_015522.4	NP_056337.1	cytoplasmic dynein 2 light intermediate chain 1 isoform 2
NM_016008.4	NP_057092.2	cytoplasmic dynein 2 light intermediate chain 1 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables dynein heavy chain binding	IDA IDA: Inferred from direct assay	29742051	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	21252941	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in intraciliary transport involved in cilium assembly	IMP IMP: Inferred from mutant phenotype	26077881	GOA
involved in regulation of cilium assembly	IMP IMP: Inferred from mutant phenotype	26077881	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in centrosome	IDA IDA: Inferred from direct assay	26130459	GOA
located in ciliary basal body	IDA IDA: Inferred from direct assay	26130459	GOA
located in ciliary transition zone	IDA IDA: Inferred from direct assay	26130459	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	26130459	GOA
part of cytoplasmic dynein complex	IDA IDA: Inferred from direct assay	21723285	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DYNC2LI1 Protein Structure

DLIC

0
100
200
300
351 a.a.

Protein Preferred Names	Protein Names
cytoplasmic dynein 2 light intermediate chain 1

DYNC2LI1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	DYNC2LI1	Q8TCX1	SOD1	Homo sapiens	P00441	Pull Down	21252941

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Short-Rib Thoracic Dysplasia 15 With Polydactyly	SRTD15
Sitosterolemia 2	STSL2
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Asphyxiating Thoracic Dystrophy 1 Jeune Syndrome SRTD1 Atd1 Asphyxiating Thoracic Dystrophy Of The Newborn Jatd Jeune Asphyxiating Thoracic Dystrophy Thoracic-Pelvic-Phalangeal Dystrophy Atd Asphyxiating Thoracic Dystrophy Chondroectodermal Dysplasia-Like Syndrome Infantile Thoracic Dystrophy Jeune'S Syndrome Thoracic Pelvic Phalangeal Dystrophy Jeune Thoracic Dystrophy
Sitosterolemia	Phytosterolemia Beta-Sitosterolemia Plant Sterol Storage Disease Phytosterolæmia Sitosterolæmia Retention Of Dietary Cholesterol And Abnormal Retention Of Non-Cholesterol Sterols In The Body Phytosterolaemia Sitosterolaemia Sitosterolemia With Xanthomatosis
Sitosterolemia 1	Phytosterolemia STSL1 Stsl Shellfish Sterolemia
Ellis-Van Creveld Syndrome	Chondroectodermal Dysplasia Mesoectodermal Dysplasia EVC Ellis Van Creveld Syndrome Mesodermic Dysplasia Ellis-Van Creveld Dysplasia
Polydactyly	Non-Syndromic Polydactyly Polydactyly, Postaxial Postaxial Polydactyly Supernumerary Digit Extra Digits Hyperdactyly Polydactylia Polydactylism Supernumerary Digits
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Asphyxiating Thoracic Dystrophy 3 Saldino-Noonan Syndrome SRTD3 Atd3 Srps1 Srps3 Verma-Naumoff Syndrome Srps2b Short Rib-Polydactyly Syndrome, Verma-Naumoff Type Short Rib-Polydactyly Syndrome, Type I Polydactyly With Neonatal Chondrodystrophy, Type I Polydactyly With Neonatal Chondrodystrophy, Type Iii Short Rib-Polydactyly Syndrome, Type Iib Short Rib-Polydactyly Syndrome Type 3 Polydactyly With Neonatal Chondrodystrophy Type Iii Short Rib-Polydactyly Syndrome Type Iii Short Rib-Polydactyly Syndrome Type 1 Short Rib-Polydactyly Syndrome, Saldino-Noonan Type Majewski Syndrome Short Rib-Polydactyly Syndrome, Type Iii Type I Short Rib Polydactyly Syndrome Srps Type 3 Short Rib Polydactyly Syndrome Verma Naumoff Type Verma Naumoff Syndrome Polydactyly With Neonatal Chondrodystrophy Type 1 Srps Type 1 Short Rib-Polydactyly Syndrome Saldino-Noonan Type Jatd Jeune Asphyxiating Thoracic Dystrophy Jeune Syndrome 3 Polydactyly With Neonatal Chondrodystrophy Type I Short Rib-Polydactyly Syndrome Type I Short Rib-Polydactyly Syndrome Type Iib Srps Type Iib Srps Type Iii
Asphyxiating Thoracic Dystrophy	Jeune Thoracic Dystrophy Jeune Syndrome Asphyxiating Thoracic Dysplasia Short-Rib Thoracic Dysplasia With Or Without Polydactyly Thoracic Pelvic Phalangeal Dystrophy Asphyxiating Thoracic Chondrodystrophy Atd Chondroectodermal Dysplasia-Like Syndrome Infantile Thoracic Dystrophy Jeune Thoracic Dysplasia Thoracic Asphyxiant Dystrophy Thoracic-Pelvic-Phalangeal Dystrophy Short-Rib Thoracic Dysplasia Without Polydactyly Asphyxiating Thoracic Dystrophy Of The Newborn Asphyxiating Thorax Dystrophy
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	SRTD11
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	SRTD8 Srps6 Short Rib-Polydactyly Syndrome Type Vi Short Rib-Polydactyly Syndrome, Type Vi Srps Type Vi
Cranioectodermal Dysplasia	Sensenbrenner Syndrome Levin Syndrome 1 Ced Levin Syndrome Dysplasia, Cranioectodermal
Short-Rib Thoracic Dysplasia 12	Beemer-Langer Syndrome Type Iv Short Rib Polydactyly Syndrome Short Rib-Polydactyly Syndrome Type 4 Short Rib-Polydactyly Syndrome, Beemer Type SRTD12 Short Rib-Polydactyly Syndrome, Type Iv Srps4 Srps Iv Short Rib Syndrome, Beemer Type Beemer Langer Syndrome Srps Type 4 Short Rib Polydactyly Syndrome Beemer-Langer Type Short Rib-Polydactyly Syndrome Beemer Type Short Rib-Polydactyly Syndrome Type Iv Short Rib-Polydactyly Syndrome, Beemer-Langer Type
Weyers Acrofacial Dysostosis	Curry-Hall Syndrome Weyers Acrodental Dysostosis WAD Acrodental Dysostosis Of Weyers Acrofacial Dysostosis, Weyers Type Acrofacial Dysostosis Of Weyers Curry Hall Syndrome
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Majewski Syndrome SRTD6 Srps2a Short Rib-Polydactyly Syndrome, Majewski Type Polydactyly With Neonatal Chondrodystrophy, Type Ii Short Rib-Polydactyly Syndrome Type Iia Short Rib-Polydactyly Syndrome Type 2 Short Rib-Polydactyly Syndrome Type Ii Short Rib-Polydactyly Syndrome, Type Ii Srps, Type Ii Short Rib-Polydactyly Syndrome, Type Iia Polydactyly With Neonatal Chondrodystrophy Type 2 Srps Type 2 Short Rib-Polydactyly Syndrome Majewski Type Polydactyly With Neonatal Chondrodystrophy Type Ii Short Rib-Polydactyly Syndrome 2a Srps Type Ii
Bardet-Biedl Syndrome	Bbs Biedl-Bardet Syndrome
Visceral Heterotaxy	Situs Ambiguus Heterotaxia Heterotaxy Syndrome Heterotaxy Lateralization Defect Situs Ambiguous Left Isomerism Htx Ivemark Syndrome Right Isomerism Situs Ambiguus Viscerum Incomplete Situs Inversus Partial Situs Inversus Heterotaxy, Visceral Asplenia Syndrome Bilateral Left-Sidedness Polysplenia Syndrome Moller Syndrome
Primary Ciliary Dyskinesia	Immotile Cilia Syndrome Kartagener Syndrome Dextrocardia Bronchiectasis And Sinusitis Pcd Ciliary Motility Disorders Ciliary Motility Disorder Immotile Ciliary Syndrome Ciliary Dyskinesia Primary Ics Polynesian Bronchiectasis Dextrocardia-Bronchiectasis-Sinusitis Syndrome Immotile Cilia Syndrome, Kartagener Type Primary Ciliary Dyskinesia And Situs Inversus Primary Ciliary Dyskinesia, Kartagener Type Siewert Syndrome Dyskinesia, Ciliary, Primary
Joubert Syndrome 1	Joubert Syndrome Jbts Cerebellooculorenal Syndrome 1 JBTS1 Joubert-Boltshauser Syndrome Cerebelloparenchymal Disorder Iv Cpd4 Cors1 Joubert Syndrome And Related Disorders Jsrd Familial Aplasia Of The Vermis Joubert Syndrome Related Disorders Js Cerebellar Vermis Agenesis Cerebelloparenchymal Disorder 4 Agenesis Of Cerebellar Vermis Cerebello-Oculo-Renal Syndrome Cors Joubert-Bolthauser Syndrome Cpd Iv Classic Joubert Syndrome Joubert Syndrome Type A Pure Joubert Syndrome Cerebello-Oculo-Renal Syndrome 1 Joubert Syndrome-1 Joubert Syndrome, Type 1 Joubert'S Syndrome

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04087	DYNC2LI1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	DYNC2LI1	VGNC	VGNC:61681
Macaca mulatta	DYNC2LI1	VGNC	VGNC:71899
Bos taurus	DYNC2LI1	VGNC	VGNC:28274
Canis familiaris	DYNC2LI1	VGNC	VGNC:40149
Mus musculus	DYNC2LI1	MGD	MGI:1913996
Rattus norvegicus	DYNC2LI1	RGD	RGD:1310286
Others	DYNC2LI1	NCBI