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 in tissues with motile cilia or flagella and may be involved in the movement of sperm flagella. [provided by RefSeq, Dec 2014] See more...

Aliases for DNAL4 Gene

Aliases for DNAL4 Gene

  • Dynein Axonemal Light Chain 4 2 3 5
  • Dynein, Axonemal, Light Polypeptide 4 2 3
  • Dynein Light Chain 4, Axonemal 3 4
  • PIG27 2 3
  • Proliferation-Inducing Protein 27 3
  • Dynein Light Chain, Outer Arm 4 3
  • Proliferation-Inducing Gene 27 3
  • Dynein, Axonemal, Light 4 2
  • DJ327J16 2
  • MRMV3 3
  • DNAL4 5

External Ids for DNAL4 Gene

Previous GeneCards Identifiers for DNAL4 Gene

  • GC22M035789
  • GC22M037417
  • GC22M037499
  • GC22M039174
  • GC22M022140

Summaries for DNAL4 Gene

Entrez Gene Summary for DNAL4 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 in tissues with motile cilia or flagella and may be involved in the movement of sperm flagella. [provided by RefSeq, Dec 2014]

GeneCards Summary for DNAL4 Gene

DNAL4 (Dynein Axonemal Light Chain 4) is a Protein Coding gene. Diseases associated with DNAL4 include Mirror Movements 3 and Mirror Movements 1. Among its related pathways are Pathways of neurodegeneration - multiple diseases and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include motor activity.

UniProtKB/Swiss-Prot Summary for DNAL4 Gene

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

Gene Wiki entry for DNAL4 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DNAL4 Gene

Genomics for DNAL4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DNAL4 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DNAL4 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DNAL4

Top Transcription factor binding sites by QIAGEN in the DNAL4 gene promoter:
  • AP-1
  • FOXL1
  • HNF-4alpha1
  • HNF-4alpha2
  • Ik-2
  • MIF-1
  • POU2F1
  • POU2F1a
  • SRF
  • SRF (504 AA)

Genomic Locations for DNAL4 Gene

Latest Assembly
chr22:38,778,508-38,794,198
(GRCh38/hg38)
Size:
15,691 bases
Orientation:
Minus strand

Previous Assembly
chr22:39,174,513-39,190,148
(GRCh37/hg19 by Entrez Gene)
Size:
15,636 bases
Orientation:
Minus strand

chr22:39,174,513-39,190,203
(GRCh37/hg19 by Ensembl)
Size:
15,691 bases
Orientation:
Minus strand

Genomic View for DNAL4 Gene

Genes around DNAL4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DNAL4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DNAL4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DNAL4 Gene

Proteins for DNAL4 Gene

  • Protein details for DNAL4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O96015-DNAL4_HUMAN
    Recommended name:
    Dynein light chain 4, axonemal
    Protein Accession:
    O96015
    Secondary Accessions:
    • Q6FGB2
    • Q6FGD0

    Protein attributes for DNAL4 Gene

    Size:
    105 amino acids
    Molecular mass:
    12009 Da
    Quaternary structure:
    • Consists of at least two heavy chains and a number of intermediate and light chains.

neXtProt entry for DNAL4 Gene

Post-translational modifications for DNAL4 Gene

No Post-translational modifications

Other Protein References for DNAL4 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DNAL4 Gene

Domains & Families for DNAL4 Gene

Gene Families for DNAL4 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for DNAL4 Gene

InterPro:
Blocks:
  • Dynein light chain, type 1

Suggested Antigen Peptide Sequences for DNAL4 Gene

GenScript: Design optimal peptide antigens:
  • Dynein light chain 4, axonemal (DNAL4_HUMAN)
  • DNAL4 protein (Q6FGB2_HUMAN)
  • cDNA FLJ76544, highly similar to Homo sapiens dynein, axonemal, light polypeptide 4 (DNAL4), mRNA (Q6FGD0_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O96015

UniProtKB/Swiss-Prot:

DNAL4_HUMAN :
  • Belongs to the dynein light chain family.
Family:
  • Belongs to the dynein light chain family.
genes like me logo Genes that share domains with DNAL4: view

Function for DNAL4 Gene

Molecular function for DNAL4 Gene

UniProtKB/Swiss-Prot Function:
Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules. Dynein has ATPase activity (By similarity).
GENATLAS Biochemistry:
dynein,axonemal,motor protein interacting with microtubules,light polypeptide 4,outer arm,essential for motility of cilia and flagella,mouse ortholog

Phenotypes From GWAS Catalog for DNAL4 Gene

Gene Ontology (GO) - Molecular Function for DNAL4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003774 motor activity IEA --
GO:0003777 microtubule motor activity TAS --
GO:0005515 protein binding IPI 16189514
GO:0042802 identical protein binding IPI 32296183
GO:0045505 dynein intermediate chain binding IBA 21873635
genes like me logo Genes that share ontologies with DNAL4: view
genes like me logo Genes that share phenotypes with DNAL4: view

Human Phenotype Ontology for DNAL4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DNAL4 Gene

MGI Knock Outs for DNAL4:
  • Dnal4 Dnal4<tm1b(EUCOMM)Wtsi>

miRNA for DNAL4 Gene

miRTarBase miRNAs that target DNAL4

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DNAL4

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for DNAL4 Gene

Localization for DNAL4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DNAL4 Gene

Cytoplasm, cytoskeleton, cilium axoneme.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DNAL4 gene
Compartment Confidence
plasma membrane 4
cytoskeleton 4
cytosol 3
extracellular 2
nucleus 2
endoplasmic reticulum 1
mitochondrion 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centrosome (2)
  • Cytosol (2)
  • Nucleoli (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DNAL4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005874 microtubule IEA --
GO:0005886 plasma membrane TAS --
GO:0005929 cilium IEA --
genes like me logo Genes that share ontologies with DNAL4: view

Pathways & Interactions for DNAL4 Gene

genes like me logo Genes that share pathways with DNAL4: view

Gene Ontology (GO) - Biological Process for DNAL4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007017 microtubule-based process IEA --
GO:0007018 microtubule-based movement TAS --
GO:2000582 positive regulation of ATP-dependent microtubule motor activity, plus-end-directed IBA 21873635
genes like me logo Genes that share ontologies with DNAL4: view

No data available for SIGNOR curated interactions for DNAL4 Gene

Drugs & Compounds for DNAL4 Gene

No Compound Related Data Available

Transcripts for DNAL4 Gene

mRNA/cDNA for DNAL4 Gene

1 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DNAL4

Alternative Splicing Database (ASD) splice patterns (SP) for DNAL4 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b · 5c · 5d
SP1: - - -
SP2: -
SP3: - -
SP4: - - - -
SP5: - - - - -
SP6:

Relevant External Links for DNAL4 Gene

GeneLoc Exon Structure for
DNAL4

Expression for DNAL4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DNAL4 Gene

Protein differential expression in normal tissues from HIPED for DNAL4 Gene

This gene is overexpressed in Breast (47.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for DNAL4 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DNAL4

SOURCE GeneReport for Unigene cluster for DNAL4 Gene:

Hs.632766

Evidence on tissue expression from TISSUES for DNAL4 Gene

  • Skin(4.3)
  • Lung(4.2)
  • Nervous system(3.8)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DNAL4 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • cerebellum
  • head
Limb:
  • hand
  • upper limb
genes like me logo Genes that share expression patterns with DNAL4: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for DNAL4 Gene

Orthologs for DNAL4 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for DNAL4 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia DNAL4 29 30
  • 100 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia DNAL4 30
  • 96 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia DNAL4 29 30
  • 95.87 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia DNAL4 29 30
  • 95.24 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Dnal4 29 16 30
  • 93.65 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Dnal4 29
  • 93.33 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia DNAL4 30
  • 81 (a)
OneToOne
Chicken
(Gallus gallus)
Aves DNAL4 29 30
  • 83.83 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia DNAL4 30
  • 83 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia dnal4 29
  • 78.22 (n)
Str.16730 29
African clawed frog
(Xenopus laevis)
Amphibia Xl.4120 29
Zebrafish
(Danio rerio)
Actinopterygii dnal4a 30
  • 85 (a)
OneToMany
dnal4b 29 30
  • 75.82 (n)
OneToMany
Dr.14387 29
Fruit Fly
(Drosophila melanogaster)
Insecta CG8407 29 30
  • 69.23 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006887 29
  • 67.71 (n)
Worm
(Caenorhabditis elegans)
Secernentea dlc-5 30
  • 15 (a)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DYN2 30
  • 30 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 10 (a)
OneToOne
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.6924 29
Species where no ortholog for DNAL4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for DNAL4 Gene

ENSEMBL:
Gene Tree for DNAL4 (if available)
TreeFam:
Gene Tree for DNAL4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DNAL4: view image
Alliance of Genome Resources:
Additional Orthologs for DNAL4

Paralogs for DNAL4 Gene

(3) SIMAP similar genes for DNAL4 Gene using alignment to 2 proteins:

  • DNAL4_HUMAN
  • B0QXZ5_HUMAN
genes like me logo Genes that share paralogs with DNAL4: view

No data available for Paralogs for DNAL4 Gene

Variants for DNAL4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DNAL4 Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
rs606231254 Pathogenic: Mirror movements 3 38,780,924(-) A/G
NM_005740.3(DNAL4):c.153+2T>C
SPLICE_DONOR
rs760482 Benign: not specified 38,782,696(-) A/G
NM_005740.3(DNAL4):c.36T>C (p.Asp12=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for DNAL4 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for DNAL4 Gene

Variant ID Type Subtype PubMed ID
dgv4566n100 CNV gain 25217958
dgv769n67 CNV gain 20364138
nsv471199 CNV loss 18288195
nsv589009 CNV loss 21841781

Variation tolerance for DNAL4 Gene

Residual Variation Intolerance Score: 68.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.27; 5.95% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DNAL4 Gene

Human Gene Mutation Database (HGMD)
DNAL4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DNAL4
Leiden Open Variation Database (LOVD)
DNAL4

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DNAL4 Gene

Disorders for DNAL4 Gene

MalaCards: The human disease database

(8) MalaCards diseases for DNAL4 Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

Disorder Aliases PubMed IDs
mirror movements 3
  • mrmv3
mirror movements 1
  • mrmv1
expressive language disorder
  • developmental expressive language disorder
necrotizing ulcerative gingivitis
  • acute necrotising ulcerative gingivitis
suppurative otitis media
  • otitis media with effusion - purulent
- elite association - COSMIC cancer census association via MalaCards
Search DNAL4 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

DNAL4_HUMAN
  • Mirror movements 3 (MRMV3) [MIM:616059]: A disorder characterized by contralateral involuntary movements that mirror voluntary ones. While mirror movements are occasionally found in young children, persistence beyond the age of 10 is abnormal. Mirror movements occur more commonly in the upper extremities. {ECO:0000269 PubMed:25098561}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for DNAL4

genes like me logo Genes that share disorders with DNAL4: view

No data available for Genatlas for DNAL4 Gene

Publications for DNAL4 Gene

  1. Identification of a homozygous splice site mutation in the dynein axonemal light chain 4 gene on 22q13.1 in a large consanguineous family from Pakistan with congenital mirror movement disorder. (PMID: 25098561) Ahmed I … Vincent JB (Human genetics 2014) 3 4 72
  2. The DNA sequence of human chromosome 22. (PMID: 10591208) Dunham I … O'Brien KP (Nature 1999) 2 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  4. Reevaluating human gene annotation: a second-generation analysis of chromosome 22. (PMID: 12529303) Collins JE … Dunham I (Genome research 2003) 3 4
  5. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3

Products for DNAL4 Gene

Sources for DNAL4 Gene