Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	51626
Gene name	Dynein cytoplasmic 2 light intermediate chain 1
Gene symbol	DYNC2LI1
Synonyms (NCBI Gene)	CGI-60D2LICLIC3
Chromosome	2
Chromosome location	2p21
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

Show/Hide all (11)

SNP ID	Visualize variation	Clinical significance	Consequence
rs146698690	C>G,T	Likely-benign, likely-pathogenic	Missense variant, coding sequence variant
rs201151187	G>A	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant, splice acceptor variant
rs201948500	C>G	Pathogenic	Coding sequence variant, missense variant
rs374356079	G>A	Pathogenic	Splice donor variant, genic downstream transcript variant
rs745930390	C>G,T	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, stop gained
rs752971070	T>-	Pathogenic	Genic downstream transcript variant, intron variant
rs769975073	G>A,C	Pathogenic	Coding sequence variant, missense variant, stop gained
rs770155116	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs879255656	A>G	Pathogenic	Genic downstream transcript variant, intron variant
rs886037860	C>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs1553359373	->A	Pathogenic	Frameshift variant, coding sequence variant

106

Show/Hide all (106)

miRTarBase ID	miRNA	Experiments	Reference
MIRT029378	hsa-miR-26b-5p	Microarray	19088304
MIRT707579	hsa-miR-4760-3p	HITS-CLIP	21572407
MIRT159513	hsa-miR-144-3p	HITS-CLIP	21572407
MIRT707578	hsa-miR-128-3p	HITS-CLIP	21572407
MIRT707577	hsa-miR-216a-3p	HITS-CLIP	21572407
MIRT707576	hsa-miR-3681-3p	HITS-CLIP	21572407
MIRT159531	hsa-miR-1279	HITS-CLIP	21572407
MIRT707575	hsa-miR-412-3p	HITS-CLIP	21572407
MIRT707574	hsa-miR-6754-3p	HITS-CLIP	21572407
MIRT707573	hsa-miR-6837-3p	HITS-CLIP	21572407
MIRT159521	hsa-miR-513a-5p	HITS-CLIP	21572407
MIRT159507	hsa-miR-27a-3p	HITS-CLIP	21572407
MIRT159512	hsa-miR-27b-3p	HITS-CLIP	21572407
MIRT707572	hsa-miR-130a-5p	HITS-CLIP	21572407
MIRT707571	hsa-miR-23a-3p	HITS-CLIP	21572407
MIRT707570	hsa-miR-23b-3p	HITS-CLIP	21572407
MIRT707569	hsa-miR-23c	HITS-CLIP	21572407
MIRT159545	hsa-miR-3064-3p	HITS-CLIP	21572407
MIRT707568	hsa-miR-4715-3p	HITS-CLIP	21572407
MIRT159507	hsa-miR-27a-3p	HITS-CLIP	22473208
MIRT159512	hsa-miR-27b-3p	HITS-CLIP	22473208
MIRT707579	hsa-miR-4760-3p	HITS-CLIP	21572407
MIRT159513	hsa-miR-144-3p	HITS-CLIP	21572407
MIRT707578	hsa-miR-128-3p	HITS-CLIP	21572407
MIRT707577	hsa-miR-216a-3p	HITS-CLIP	21572407
MIRT707576	hsa-miR-3681-3p	HITS-CLIP	21572407
MIRT159531	hsa-miR-1279	HITS-CLIP	21572407
MIRT707575	hsa-miR-412-3p	HITS-CLIP	21572407
MIRT707574	hsa-miR-6754-3p	HITS-CLIP	21572407
MIRT707573	hsa-miR-6837-3p	HITS-CLIP	21572407
MIRT159521	hsa-miR-513a-5p	HITS-CLIP	21572407
MIRT159507	hsa-miR-27a-3p	HITS-CLIP	21572407
MIRT159512	hsa-miR-27b-3p	HITS-CLIP	21572407
MIRT707572	hsa-miR-130a-5p	HITS-CLIP	21572407
MIRT707571	hsa-miR-23a-3p	HITS-CLIP	21572407
MIRT707570	hsa-miR-23b-3p	HITS-CLIP	21572407
MIRT707569	hsa-miR-23c	HITS-CLIP	21572407
MIRT159545	hsa-miR-3064-3p	HITS-CLIP	21572407
MIRT707568	hsa-miR-4715-3p	HITS-CLIP	21572407
MIRT949100	hsa-miR-128	CLIP-seq
MIRT949101	hsa-miR-144	CLIP-seq
MIRT949102	hsa-miR-23a	CLIP-seq
MIRT949103	hsa-miR-23b	CLIP-seq
MIRT949104	hsa-miR-27a	CLIP-seq
MIRT949105	hsa-miR-27b	CLIP-seq
MIRT949106	hsa-miR-412	CLIP-seq
MIRT949107	hsa-miR-4270	CLIP-seq
MIRT949108	hsa-miR-4441	CLIP-seq
MIRT949109	hsa-miR-4659a-3p	CLIP-seq
MIRT949110	hsa-miR-4659b-3p	CLIP-seq
MIRT949111	hsa-miR-4708-5p	CLIP-seq
MIRT949112	hsa-miR-4789-5p	CLIP-seq
MIRT949113	hsa-miR-495	CLIP-seq
MIRT949114	hsa-miR-582-5p	CLIP-seq
MIRT949115	hsa-miR-3119	CLIP-seq
MIRT949116	hsa-miR-579	CLIP-seq
MIRT949100	hsa-miR-128	CLIP-seq
MIRT949101	hsa-miR-144	CLIP-seq
MIRT949117	hsa-miR-2355-3p	CLIP-seq
MIRT949102	hsa-miR-23a	CLIP-seq
MIRT949103	hsa-miR-23b	CLIP-seq
MIRT949104	hsa-miR-27a	CLIP-seq
MIRT949105	hsa-miR-27b	CLIP-seq
MIRT949118	hsa-miR-3149	CLIP-seq
MIRT949106	hsa-miR-412	CLIP-seq
MIRT949119	hsa-miR-4267	CLIP-seq
MIRT949109	hsa-miR-4659a-3p	CLIP-seq
MIRT949110	hsa-miR-4659b-3p	CLIP-seq
MIRT949112	hsa-miR-4789-5p	CLIP-seq
MIRT949113	hsa-miR-495	CLIP-seq
MIRT949114	hsa-miR-582-5p	CLIP-seq
MIRT949120	hsa-miR-676	CLIP-seq
MIRT949100	hsa-miR-128	CLIP-seq
MIRT949101	hsa-miR-144	CLIP-seq
MIRT949104	hsa-miR-27a	CLIP-seq
MIRT949105	hsa-miR-27b	CLIP-seq
MIRT949118	hsa-miR-3149	CLIP-seq
MIRT949102	hsa-miR-23a	CLIP-seq
MIRT949103	hsa-miR-23b	CLIP-seq
MIRT949106	hsa-miR-412	CLIP-seq
MIRT949109	hsa-miR-4659a-3p	CLIP-seq
MIRT949110	hsa-miR-4659b-3p	CLIP-seq
MIRT949112	hsa-miR-4789-5p	CLIP-seq
MIRT949113	hsa-miR-495	CLIP-seq
MIRT949114	hsa-miR-582-5p	CLIP-seq
MIRT2387179	hsa-miR-2052	CLIP-seq
MIRT2387180	hsa-miR-4778-3p	CLIP-seq
MIRT2387181	hsa-miR-502-5p	CLIP-seq
MIRT949100	hsa-miR-128	CLIP-seq
MIRT949101	hsa-miR-144	CLIP-seq
MIRT949104	hsa-miR-27a	CLIP-seq
MIRT949105	hsa-miR-27b	CLIP-seq
MIRT2387179	hsa-miR-2052	CLIP-seq
MIRT2387180	hsa-miR-4778-3p	CLIP-seq
MIRT2387181	hsa-miR-502-5p	CLIP-seq
MIRT949100	hsa-miR-128	CLIP-seq
MIRT949101	hsa-miR-144	CLIP-seq
MIRT949104	hsa-miR-27a	CLIP-seq
MIRT949105	hsa-miR-27b	CLIP-seq
MIRT2520285	hsa-miR-3148	CLIP-seq
MIRT949118	hsa-miR-3149	CLIP-seq
MIRT2520286	hsa-miR-3978	CLIP-seq
MIRT949100	hsa-miR-128	CLIP-seq
MIRT949101	hsa-miR-144	CLIP-seq
MIRT949104	hsa-miR-27a	CLIP-seq
MIRT949105	hsa-miR-27b	CLIP-seq

Show/Hide all (44)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	21252941, 29742051, 32296183
GO:0005737	Component	Cytoplasm	IDA	26130459
GO:0005737	Component	Cytoplasm	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005813	Component	Centrosome	IDA	26130459
GO:0005813	Component	Centrosome	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005868	Component	Cytoplasmic dynein complex	IBA
GO:0005868	Component	Cytoplasmic dynein complex	IDA	21723285, 31451806
GO:0005868	Component	Cytoplasmic dynein complex	IEA
GO:0005868	Component	Cytoplasmic dynein complex	ISS	12802074
GO:0005874	Component	Microtubule	IEA
GO:0005881	Component	Cytoplasmic microtubule	ISS
GO:0005929	Component	Cilium	IDA
GO:0005929	Component	Cilium	IEA
GO:0005929	Component	Cilium	ISS
GO:0005929	Component	Cilium	TAS
GO:0005930	Component	Axoneme	IBA
GO:0005930	Component	Axoneme	IEA
GO:0005930	Component	Axoneme	ISS
GO:0007368	Process	Determination of left/right symmetry	IEA
GO:0016607	Component	Nuclear speck	IDA
GO:0030030	Process	Cell projection organization	IEA
GO:0030286	Component	Dynein complex	IEA
GO:0031514	Component	Motile cilium	IEA
GO:0031514	Component	Motile cilium	ISS
GO:0035721	Process	Intraciliary retrograde transport	IBA
GO:0035721	Process	Intraciliary retrograde transport	IEA
GO:0035735	Process	Intraciliary transport involved in cilium assembly	IBA
GO:0035735	Process	Intraciliary transport involved in cilium assembly	IEA
GO:0035735	Process	Intraciliary transport involved in cilium assembly	IMP	26077881
GO:0035869	Component	Ciliary transition zone	IDA	26130459
GO:0036064	Component	Ciliary basal body	IBA
GO:0036064	Component	Ciliary basal body	IDA	26130459
GO:0036064	Component	Ciliary basal body	ISS	12802074
GO:0042995	Component	Cell projection	IEA
GO:0045177	Component	Apical part of cell	IEA
GO:0045177	Component	Apical part of cell	ISS
GO:0045504	Function	Dynein heavy chain binding	IBA
GO:0045504	Function	Dynein heavy chain binding	IDA	29742051
GO:0060271	Process	Cilium assembly	IEA
GO:0097542	Component	Ciliary tip	TAS
GO:1902017	Process	Regulation of cilium assembly	IMP	26077881

MIM	HGNC	e!Ensembl
617083	24595	ENSG00000138036

Q8TCX1

Protein name

Cytoplasmic dynein 2 light intermediate chain 1 (Dynein 2 light intermediate chain)

Protein function

Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 2 complex (dynein-2 complex), a motor protein complex that drives the movement of cargos along microtubules within cilia and flagella in concert with the intrafl

PDB

6RLB , 6SC2 , 8RGH

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF05783	DLIC	2 → 179	Dynein light intermediate chain (DLIC)	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in bone, brain, kidney, and cartilage (PubMed:26077881, PubMed:26130459). Lower expression in heart, liver, lung, placenta and thymus (PubMed:26077881). {ECO:0000269|PubMed:26077881, ECO:0000269|PubMed:26130459}.

Sequence

MPSETLWEIAKAEVEKRGINGSEGDGAEIAEKFVFFIGSKNGGKTTIILRCLDRDEPPKP
TLALEYTYGRRAKGHNTPKDIAHFWELGGGTSLLDLISIPITGDTLRTFSLVLVLDLSKP
NDLWPTMENLLQATKSHVDKVIMKLGKTNAKAVSEMRQKIWNNMPKDHPDHELIDPFPVP
LVIIGSKYDVFQDFESEKRKVICKTLRFVAHYYGASLMFTSKSEALLLKIRGVINQLAFG
IDKSKSICVDQNKPLFITAGLDSFGQIGSPPVPENDIGKLHAHSPMELWKKVYEKLFPPK
SINTLKDIKDPARDPQYAENEVDEMRIQKDLELEQYKRSSSKSWKQIELDS

Sequence length

351

Interactions

View interactions

	KEGG		Reactome
	Motor proteins Vasopressin-regulated water reabsorption Salmonella infection		Intraflagellar transport

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Asphyxiating thoracic dystrophy 1	Pathogenic; Likely pathogenic	rs201948500, rs769975073, rs374356079, rs879255656, rs879255655	RCV000754096 RCV000754097 RCV000754095 RCV000754099 RCV000754098
Papillary renal cell carcinoma type 1	Pathogenic	rs374356079	RCV005892405
Short-rib thoracic dysplasia 15 with polydactyly	Pathogenic; Likely pathogenic	rs1435689952, rs201948500, rs769975073, rs374356079, rs879255656, rs879255655, rs745930390, rs886037860, rs200859699, rs770155116, rs1553359373, rs752971070	RCV001431570 RCV000239697 RCV000239657 RCV000239722 RCV000239617 RCV000239685 RCV000239659 RCV000239689 RCV000611382 RCV000600015 RCV000608198 RCV000613971

Show/Hide Unknown Diseases (17)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs17495522	RCV005923166
Adrenocortical carcinoma, hereditary	Benign	rs17495522	RCV005923169
Cervical cancer	Benign	rs17495522	RCV005923170
Clear cell carcinoma of kidney	Benign	rs17495522	RCV005923171
Colon adenocarcinoma	Benign	rs17495522	RCV005923165
Colorectal cancer	Benign	rs17495522	RCV005923173
DYNC2LI1-related disorder	Benign; Likely benign	rs9309107, rs8302, rs17495522, rs186836054, rs190404428, rs115529828, rs146698690, rs142464485, rs77852352	RCV003983995 RCV003980788 RCV003921327 RCV003912194 RCV003943023 RCV003906016 RCV003910618 RCV003940611 RCV003932953
Gastric cancer	Benign	rs17495522, rs371510361	RCV005923175 RCV005930463
Lung cancer	Benign; Uncertain significance	rs17495522, rs142412169	RCV005923178 RCV005925670
Malignant tumor of esophagus	Benign	rs17495522	RCV005923167
Nonpapillary renal cell carcinoma	Benign	rs17495522	RCV005923168
Sarcoma	Benign	rs17495522	RCV005923174
Short-rib thoracic dysplasia 6 with or without polydactyly	Conflicting classifications of pathogenicity	rs76483206	RCV000516090
Thymoma	Benign	rs17495522	RCV005923177
Uterine carcinosarcoma	Benign	rs17495522	RCV005923176
Uterine corpus endometrial carcinoma	Benign	rs17495522	RCV005923179
Uveal melanoma	Benign	rs17495522	RCV005923172

Show/Hide Text Mining Associations (5)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Ciliopathies	Associate	33030252
Infertility	Associate	28643089
Short Rib Polydactyly Syndrome	Associate	26077881, 33030252
Short rib polydactyly syndrome Beemer type	Associate	26077881
Transposition of Great Vessels	Associate	32078439

DYNC2LI1 (dynein cytoplasmic 2 light intermediate chain 1)