Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10126
Gene name Gene Name - the full gene name approved by the HGNC.
Dynein axonemal light chain 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DNAL4
Synonyms (NCBI Gene) Gene synonyms aliases
MRMV3, PIG27
Disease Acronyms (UniProt) Disease acronyms from UniProt database
MRMV3
Chromosome Chromosome number
22
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
22q13.1
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs606231254 A>G Pathogenic Splice donor variant
miRNA miRNA information provided by mirtarbase database.
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
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003777 Function Microtubule motor activity TAS
GO:0005515 Function Protein binding IPI 16189514, 21516116, 25416956, 31515488, 32296183
GO:0005737 Component Cytoplasm IEA
GO:0005874 Component Microtubule IEA
GO:0005886 Component Plasma membrane TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
610565 2955 ENSG00000100246
Protein
UniProt ID 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
Sequence length 105
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Motor proteins
Amyotrophic lateral sclerosis
Huntington disease
Pathways of neurodegeneration - multiple diseases
  Retrograde neurotrophin signalling
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Agenesis of corpus callosum Agenesis of corpus callosum rs754914260, rs1057519053, rs1057519056, rs1057519054, rs1057519055, rs1057519057, rs1384496494, rs1599017933
Cerebral palsy Cerebral Palsy rs121918149, rs75184679, rs730880264, rs587777428, rs797045067, rs767399782, rs564185858, rs886039513
Hypogonadotropic hypogonadism Hypogonadotropic hypogonadism rs104894702, rs104893836, rs104893837, rs104893842, rs121909628, rs138249161, rs1601946139
Mental retardation Mild Mental Retardation rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
Unknown
Disease term Disease name Evidence References Source
Specific learning disorder Specific learning disability ClinVar
Congenital Mirror Movements familial congenital mirror movements GenCC
Mirror Movements mirror movements 3 GenCC
Breast Cancer Breast Cancer Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients GWAS, CBGDA