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	10126
Gene name	Dynein axonemal light chain 4
Gene symbol	DNAL4
Synonyms (NCBI Gene)	MRMV3PIG27
Chromosome	22
Chromosome location	22q13.1
Summary	This gene encodes an axonemal dynein light chain which functions as a component of the outer dynein arms complex. This complex acts as the molecular motor that provides the force to move cilia in an ATP-dependent manner. The encoded protein is expressed i

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SNP ID	Visualize variation	Clinical significance	Consequence
rs606231254	A>G	Pathogenic	Splice donor variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT017424	hsa-miR-335-5p	Microarray	18185580
MIRT029200	hsa-miR-26b-5p	Microarray	19088304
MIRT942111	hsa-miR-1273f	CLIP-seq
MIRT942112	hsa-miR-143	CLIP-seq
MIRT942113	hsa-miR-2355-5p	CLIP-seq
MIRT942114	hsa-miR-3065-3p	CLIP-seq
MIRT942115	hsa-miR-3136-3p	CLIP-seq
MIRT942116	hsa-miR-3148	CLIP-seq
MIRT942117	hsa-miR-3189-3p	CLIP-seq
MIRT942118	hsa-miR-3978	CLIP-seq
MIRT942119	hsa-miR-4708-5p	CLIP-seq
MIRT942120	hsa-miR-4770	CLIP-seq
MIRT942121	hsa-miR-548aa	CLIP-seq
MIRT942122	hsa-miR-548ac	CLIP-seq
MIRT942123	hsa-miR-548d-3p	CLIP-seq
MIRT942124	hsa-miR-548z	CLIP-seq
MIRT1978895	hsa-miR-185	CLIP-seq
MIRT1978896	hsa-miR-186	CLIP-seq
MIRT1978897	hsa-miR-22	CLIP-seq
MIRT942113	hsa-miR-2355-5p	CLIP-seq
MIRT942114	hsa-miR-3065-3p	CLIP-seq
MIRT1978898	hsa-miR-3657	CLIP-seq
MIRT1978899	hsa-miR-4306	CLIP-seq
MIRT1978900	hsa-miR-4428	CLIP-seq
MIRT1978901	hsa-miR-4644	CLIP-seq
MIRT1978902	hsa-miR-4669	CLIP-seq
MIRT1978903	hsa-miR-4780	CLIP-seq
MIRT1978904	hsa-miR-488	CLIP-seq
MIRT1978905	hsa-miR-623	CLIP-seq
MIRT2214066	hsa-miR-150	CLIP-seq
MIRT2214067	hsa-miR-188-3p	CLIP-seq
MIRT2214068	hsa-miR-1915	CLIP-seq
MIRT2214069	hsa-miR-3151	CLIP-seq
MIRT2214070	hsa-miR-34a	CLIP-seq
MIRT2214071	hsa-miR-34c-5p	CLIP-seq
MIRT2214072	hsa-miR-4283	CLIP-seq
MIRT2214073	hsa-miR-4436b-3p	CLIP-seq
MIRT2214074	hsa-miR-4489	CLIP-seq
MIRT2214075	hsa-miR-449a	CLIP-seq
MIRT2214076	hsa-miR-449b	CLIP-seq
MIRT2214077	hsa-miR-4713-5p	CLIP-seq
MIRT2214078	hsa-miR-4726-3p	CLIP-seq
MIRT2214079	hsa-miR-532-3p	CLIP-seq
MIRT2214080	hsa-miR-662	CLIP-seq
MIRT2448439	hsa-miR-4738-3p	CLIP-seq
MIRT2448440	hsa-miR-4755-3p	CLIP-seq
MIRT2518409	hsa-miR-1270	CLIP-seq
MIRT2518410	hsa-miR-3672	CLIP-seq
MIRT2518411	hsa-miR-377	CLIP-seq
MIRT2518412	hsa-miR-4419a	CLIP-seq
MIRT2518413	hsa-miR-4450	CLIP-seq
MIRT2518414	hsa-miR-4510	CLIP-seq
MIRT2518415	hsa-miR-4534	CLIP-seq
MIRT2518416	hsa-miR-4667-5p	CLIP-seq
MIRT2518417	hsa-miR-4683	CLIP-seq
MIRT2518418	hsa-miR-4700-5p	CLIP-seq
MIRT2518419	hsa-miR-620	CLIP-seq
MIRT2518420	hsa-miR-661	CLIP-seq
MIRT2518409	hsa-miR-1270	CLIP-seq
MIRT2518410	hsa-miR-3672	CLIP-seq
MIRT2518411	hsa-miR-377	CLIP-seq
MIRT2518412	hsa-miR-4419a	CLIP-seq
MIRT2518413	hsa-miR-4450	CLIP-seq
MIRT2518414	hsa-miR-4510	CLIP-seq
MIRT2518415	hsa-miR-4534	CLIP-seq
MIRT2518416	hsa-miR-4667-5p	CLIP-seq
MIRT2518417	hsa-miR-4683	CLIP-seq
MIRT2518418	hsa-miR-4700-5p	CLIP-seq
MIRT2679351	hsa-miR-603	CLIP-seq
MIRT2518419	hsa-miR-620	CLIP-seq
MIRT2518420	hsa-miR-661	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0003777	Function	Microtubule motor activity	TAS
GO:0005515	Function	Protein binding	IPI	16189514, 21516116, 25416956, 31515488, 32296183, 33961781
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005874	Component	Microtubule	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005929	Component	Cilium	IEA
GO:0007017	Process	Microtubule-based process	IEA
GO:0007018	Process	Microtubule-based movement	TAS
GO:0030286	Component	Dynein complex	IEA
GO:0042802	Function	Identical protein binding	IPI	32296183
GO:0042995	Component	Cell projection	IEA

MIM	HGNC	e!Ensembl
610565	2955	ENSG00000100246

O96015

Protein name

Dynein axonemal light chain 4

Protein function

Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules. Dynein has ATPase activity (By similarity).

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01221	Dynein_light	20 → 104	Dynein light chain type 1	Domain

Sequence

MGETEGKKDEADYKRLQTFPLVRHSDMPEEMRVETMELCVTACEKFSNNNESAAKMIKET
MDKKFGSSWHVVIGEGFGFEITHEVKNLLYLYFGGTLAVCVWKCS

Sequence length

105

Interactions

View interactions

	KEGG		Reactome
	Motor proteins Amyotrophic lateral sclerosis Huntington disease Pathways of neurodegeneration - multiple diseases		Retrograde neurotrophin signalling

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Mirror movements 3	Pathogenic	rs606231254	RCV000144852

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
DNAL4-related disorder	Likely benign	rs1448408794	RCV003944068

DNAL4 (dynein axonemal light chain 4)