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Aliases for DNAL4 Gene

Aliases for DNAL4 Gene

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

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 Heterotaxy, Visceral, 5. Among its related pathways are RET signaling and Signaling by GPCR. GO annotations related to this gene include motor activity. An important paralog of this gene is DYNLL2.

UniProtKB/Swiss-Prot 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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DNAL4 Gene

Genomics for DNAL4 Gene

Regulatory Elements for DNAL4 Gene

Enhancers for DNAL4 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH22F038792 0.2 ENCODE 12.7 +0.3 309 1.9 ATF1 PKNOX1 ARID4B SIN3A KLF7 FOS CEBPZ SP3 NFYC ZNF518A NPTXR DNAL4 ENSG00000244627 SUN2 GC22M041089 PIR46258
GH22F038824 0.8 ENCODE 12.5 -30.5 -30523 0.2 ZFP64 ARID4B YBX1 SLC30A9 ZNF143 ZNF263 MXD4 MIER2 REST PPARG DNAL4 SUN2 MIR658 GC22M041408
GH22F038831 1 Ensembl ENCODE 12 -37.3 -37303 0.6 ZNF362 CEBPB JUND PATZ1 GLIS1 SCRT2 ZNF24 PRDM10 SP7 DNAL4 SUN2 NPTXR GC22M041408
GH22F038750 1 FANTOM5 ENCODE 11.8 +39.5 39531 9.7 HDGF PKNOX1 MLX WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 FAM227A CBY1 ENSG00000228274 SUN2 GTPBP1 DNAL4 JOSD1 APOBEC3G APOBEC3D ENSG00000273076
GH22F038880 1.2 Ensembl ENCODE 10.9 -88.0 -88002 2.5 CBX3 KLF17 RAD21 ZNF366 FOS CREM ZNF263 SMARCA5 ZNF280D CBFB TAB1 ENSG00000228274 NPTXR APOBEC3B-AS1 CBY1 SUN2 DNAL4 ENSG00000235209 LOC105373032 CBX6
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around DNAL4 on UCSC Golden Path with GeneCards custom track

Promoters for DNAL4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000170387 298 1800 ATF1 PKNOX1 ARID4B SIN3A KLF7 FOS CEBPZ SP3 NFYC ZNF518A

Genomic Location for DNAL4 Gene

Chromosome:
22
Start:
38,778,508 bp from pter
End:
38,794,198 bp from pter
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

Protein Domains for DNAL4 Gene

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

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

Gene Ontology (GO) - Molecular Function for DNAL4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003777 microtubule motor activity TAS --
GO:0005515 protein binding IPI 16189514
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:

Animal Model Products

miRNA for DNAL4 Gene

miRTarBase miRNAs that target DNAL4

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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
Jensen Localization Image for DNAL4 Gene COMPARTMENTS Subcellular localization image for DNAL4 gene
Compartment Confidence
cytoskeleton 4
cytosol 4
plasma membrane 4
extracellular 2
nucleus 2
mitochondrion 1

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

Pathways by source for DNAL4 Gene

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 --
genes like me logo Genes that share ontologies with DNAL4: view

No data available for SIGNOR curated interactions for DNAL4 Gene

Transcripts for DNAL4 Gene

Unigene Clusters for DNAL4 Gene

Dynein, axonemal, light chain 4:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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
ECgene alternative splicing isoforms 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, PaxDb, and MOPED for DNAL4 Gene



NURSA nuclear receptor signaling pathways regulating expression of DNAL4 Gene:

DNAL4

SOURCE GeneReport for Unigene cluster for DNAL4 Gene:

Hs.632766
genes like me logo Genes that share expression patterns with DNAL4: view

Primer Products

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 34 35
  • 100 (n)
oppossum
(Monodelphis domestica)
Mammalia DNAL4 35
  • 96 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DNAL4 34 35
  • 95.87 (n)
dog
(Canis familiaris)
Mammalia DNAL4 34 35
  • 95.24 (n)
mouse
(Mus musculus)
Mammalia Dnal4 34 16 35
  • 93.65 (n)
rat
(Rattus norvegicus)
Mammalia Dnal4 34
  • 93.33 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia DNAL4 35
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves DNAL4 34 35
  • 83.83 (n)
lizard
(Anolis carolinensis)
Reptilia DNAL4 35
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dnal4 34
  • 78.22 (n)
Str.16730 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.4120 34
zebrafish
(Danio rerio)
Actinopterygii dnal4a 35
  • 85 (a)
OneToMany
dnal4b 34 35
  • 75.82 (n)
Dr.14387 34
fruit fly
(Drosophila melanogaster)
Insecta CG8407 34 35
  • 69.23 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006887 34
  • 67.71 (n)
worm
(Caenorhabditis elegans)
Secernentea dlc-5 35
  • 15 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DYN2 35
  • 30 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 10 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.6924 34
Species where no ortholog for DNAL4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)

Paralogs for DNAL4 Gene

Paralogs for DNAL4 Gene

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

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

Variants for DNAL4 Gene

Sequence variations from dbSNP and Humsavar for DNAL4 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs606231254 Pathogenic 38,780,924(-) CGAGG(C/T)ATTGC splice-donor-variant
rs10606353 -- 38,789,401(+) CACTC(-/AG)TGGTG intron-variant
rs111440173 -- 38,780,477(+) CTTCT(C/T)GCTCT intron-variant
rs111479522 -- 38,788,488(+) GAGGA(A/G)GGAGG intron-variant
rs111557477 -- 38,783,867(+) TTCTA(-/C)TAAAG intron-variant

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)

Relevant External Links for DNAL4 Gene

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

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

Disorders for DNAL4 Gene

MalaCards: The human disease database

(3) MalaCards diseases for DNAL4 Gene - From: OMIM, ClinVar, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
mirror movements 3
  • mrmv3
heterotaxy, visceral, 5
  • situs inversus
visceral heterotaxy
  • heterotaxia
- 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 mutations affecting the gene represented in this entry.

Relevant External Links for DNAL4

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. The DNA sequence of human chromosome 22. (PMID: 10591208) Dunham I. … Wright H. (Nature 1999) 2 3 4 64
  2. 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 J.B. (Hum. Genet. 2014) 3 4 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  4. Reevaluating human gene annotation: a second-generation analysis of chromosome 22. (PMID: 12529303) Collins J.E. … Dunham I. (Genome Res. 2003) 3 4 64
  5. Congenital mirror movements: no mutation in DNAL4 in 17 index cases. (PMID: 25236653) MAcneret A. … Roze E. (J. Neurol. 2014) 3 64

Products for DNAL4 Gene

Sources for DNAL4 Gene

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