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Aliases for DNAL4 Gene

Aliases for DNAL4 Gene

  • Dynein Axonemal Light Chain 4 2 3
  • Dynein, Axonemal, Light Polypeptide 4 2 3
  • Dynein, Axonemal, Light Chain 4 3 5
  • Proliferation-Inducing Protein 27 3
  • Dynein Light Chain, Outer Arm 4 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 visceral heterotaxy. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Interleukin-3, 5 and GM-CSF signaling. GO annotations related to this gene include motor activity. An important paralog of this gene is DYNLL1.

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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around DNAL4 on UCSC Golden Path with GeneCards custom track

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

Proteomics data for DNAL4 Gene at MOPED

Post-translational modifications for DNAL4 Gene

No Post-translational modifications

Other Protein References for DNAL4 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for DNAL4

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: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

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: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: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

Drugs & Compounds for DNAL4 Gene

No Compound Related Data Available

Transcripts for DNAL4 Gene

Unigene Clusters for DNAL4 Gene

Dynein, axonemal, light chain 4:
Representative Sequences:

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 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



SOURCE GeneReport for Unigene cluster for DNAL4 Gene Hs.632766

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

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners 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
cow
(Bos Taurus)
Mammalia DNAL4 35
  • 95.87 (n)
  • 100 (a)
DNAL4 36
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DNAL4 35
  • 95.24 (n)
  • 99.05 (a)
DNAL4 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dnal4 35
  • 93.65 (n)
  • 99.05 (a)
Dnal4 16
Dnal4 36
  • 99 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia DNAL4 35
  • 100 (n)
  • 100 (a)
DNAL4 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dnal4 35
  • 93.33 (n)
  • 97.14 (a)
oppossum
(Monodelphis domestica)
Mammalia DNAL4 36
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DNAL4 36
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves DNAL4 35
  • 83.83 (n)
  • 87.13 (a)
DNAL4 36
  • 85 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DNAL4 36
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dnal4 35
  • 78.22 (n)
  • 88.12 (a)
Str.16730 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.4120 35
zebrafish
(Danio rerio)
Actinopterygii dnal4b 35
  • 75.82 (n)
  • 87.25 (a)
Dr.14387 35
dnal4a 36
  • 85 (a)
OneToMany
dnal4b 36
  • 86 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006887 35
  • 67.71 (n)
  • 60.42 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG8407 35
  • 69.23 (n)
  • 59.62 (a)
CG8407 36
  • 60 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea dlc-5 36
  • 15 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DYN2 36
  • 30 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.6924 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 10 (a)
OneToOne
Species with no ortholog for DNAL4:
  • 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
rs14040 -- 38,779,262(-) TCAAC(C/T)GTCTC utr-variant-3-prime
rs7288299 -- 38,792,168(+) tcttt(C/T)gtagt intron-variant
rs2294180 -- 38,794,091(+) GAGCC(G/T)GGGCC utr-variant-5-prime
rs7289222 -- 38,792,848(+) agtgt(A/G/T)cactg intron-variant
rs7289344 -- 38,792,862(+) aataa(C/T)aataa intron-variant

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

Variant ID Type Subtype PubMed ID
nsv915067 CNV Loss 21882294
nsv915068 CNV Loss 21882294
dgv769n67 CNV Gain 20364138
nsv471199 CNV Loss 18288195
nsv915069 CNV Loss 21882294

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

HapMap Linkage Disequilibrium report
DNAL4
Human Gene Mutation Database (HGMD)
DNAL4

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

Disorders for DNAL4 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
mirror movements 3
  • mrmv3
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 67
  2. Congenital mirror movements: no mutation in DNAL4 in 17 index cases. (PMID: 25236653) MAcneret A. … Roze E. (J. Neurol. 2014) 3
  3. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3
  4. 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
  5. Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. (PMID: 23382691) Lauc G. … Rudan I. (PLoS Genet. 2013) 3

Products for DNAL4 Gene

Sources for DNAL4 Gene

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