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DNAL4 (dynein, axonemal, light chain 4)

Identity

Alias_namesdynein, axonemal, light polypeptide 4
dynein, axonemal, light 4
Alias_symbol (synonym)dJ327J16
PIG27
Other aliasMRMV3
HGNC (Hugo) DNAL4
LocusID (NCBI) 10126
Atlas_Id 62572
Location 22q13.1  [Link to chromosome band 22q13]
Location_base_pair Starts at 39174513 and ends at 39190161 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
CSNK1E (22q13.1) / DNAL4 (22q13.1)DMC1 (22q13.1) / DNAL4 (22q13.1)DMC1 DNAL4
CSNK1E DNAL4

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)DNAL4   2955
Cards
Entrez_Gene (NCBI)DNAL4  10126  dynein, axonemal, light chain 4
AliasesMRMV3; PIG27
GeneCards (Weizmann)DNAL4
Ensembl hg19 (Hinxton)ENSG00000100246 [Gene_View]  chr22:39174513-39190161 [Contig_View]  DNAL4 [Vega]
Ensembl hg38 (Hinxton)ENSG00000100246 [Gene_View]  chr22:39174513-39190161 [Contig_View]  DNAL4 [Vega]
ICGC DataPortalENSG00000100246
TCGA cBioPortalDNAL4
AceView (NCBI)DNAL4
Genatlas (Paris)DNAL4
WikiGenes10126
SOURCE (Princeton)DNAL4
Genetics Home Reference (NIH)DNAL4
Genomic and cartography
GoldenPath hg19 (UCSC)DNAL4  -     chr22:39174513-39190161 -  22q13.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)DNAL4  -     22q13.1   [Description]    (hg38-Dec_2013)
EnsemblDNAL4 - 22q13.1 [CytoView hg19]  DNAL4 - 22q13.1 [CytoView hg38]
Mapping of homologs : NCBIDNAL4 [Mapview hg19]  DNAL4 [Mapview hg38]
OMIM610565   616059   
Gene and transcription
Genbank (Entrez)AK223349 AK290566 AL035366 AY453399 BC002968
RefSeq transcript (Entrez)NM_005740
RefSeq genomic (Entrez)NC_000022 NC_018933 NG_041804 NT_011520 NW_004929430
Consensus coding sequences : CCDS (NCBI)DNAL4
Cluster EST : UnigeneHs.632766 [ NCBI ]
CGAP (NCI)Hs.632766
Alternative Splicing GalleryENSG00000100246
Gene ExpressionDNAL4 [ NCBI-GEO ]   DNAL4 [ EBI - ARRAY_EXPRESS ]   DNAL4 [ SEEK ]   DNAL4 [ MEM ]
Gene Expression Viewer (FireBrowse)DNAL4 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10126
GTEX Portal (Tissue expression)DNAL4
Protein : pattern, domain, 3D structure
UniProt/SwissProtO96015   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO96015  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO96015
Splice isoforms : SwissVarO96015
PhosPhoSitePlusO96015
Domains : Interpro (EBI)Dynein_light_chain_typ-1/2   
Domain families : Pfam (Sanger)Dynein_light (PF01221)   
Domain families : Pfam (NCBI)pfam01221   
Conserved Domain (NCBI)DNAL4
DMDM Disease mutations10126
Blocks (Seattle)DNAL4
SuperfamilyO96015
Human Protein AtlasENSG00000100246
Peptide AtlasO96015
HPRD13239
IPIIPI00024734   IPI00879930   
Protein Interaction databases
DIP (DOE-UCLA)O96015
IntAct (EBI)O96015
FunCoupENSG00000100246
BioGRIDDNAL4
STRING (EMBL)DNAL4
ZODIACDNAL4
Ontologies - Pathways
QuickGOO96015
Ontology : AmiGOmotor activity  protein binding  cytoplasm  microtubule  plasma membrane  cilium  microtubule-based process  metabolic process  dynein complex  neurotrophin TRK receptor signaling pathway  
Ontology : EGO-EBImotor activity  protein binding  cytoplasm  microtubule  plasma membrane  cilium  microtubule-based process  metabolic process  dynein complex  neurotrophin TRK receptor signaling pathway  
Pathways : KEGGHuntington's disease   
NDEx NetworkDNAL4
Atlas of Cancer Signalling NetworkDNAL4
Wikipedia pathwaysDNAL4
Orthology - Evolution
OrthoDB10126
GeneTree (enSembl)ENSG00000100246
Phylogenetic Trees/Animal Genes : TreeFamDNAL4
HOVERGENO96015
HOGENOMO96015
Homologs : HomoloGeneDNAL4
Homology/Alignments : Family Browser (UCSC)DNAL4
Gene fusions - Rearrangements
Fusion: TCGADMC1 DNAL4
Fusion: TCGACSNK1E DNAL4
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDNAL4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DNAL4
dbVarDNAL4
ClinVarDNAL4
1000_GenomesDNAL4 
Exome Variant ServerDNAL4
ExAC (Exome Aggregation Consortium)DNAL4 (select the gene name)
Genetic variants : HAPMAP10126
Genomic Variants (DGV)DNAL4 [DGVbeta]
DECIPHER (Syndromes)22:39174513-39190161  ENSG00000100246
CONAN: Copy Number AnalysisDNAL4 
Mutations
ICGC Data PortalDNAL4 
TCGA Data PortalDNAL4 
Broad Tumor PortalDNAL4
OASIS PortalDNAL4 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICDNAL4  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDDNAL4
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch DNAL4
DgiDB (Drug Gene Interaction Database)DNAL4
DoCM (Curated mutations)DNAL4 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DNAL4 (select a term)
intoGenDNAL4
Cancer3DDNAL4(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610565    616059   
Orphanet
MedgenDNAL4
Genetic Testing Registry DNAL4
NextProtO96015 [Medical]
TSGene10126
GENETestsDNAL4
Huge Navigator DNAL4 [HugePedia]
snp3D : Map Gene to Disease10126
BioCentury BCIQDNAL4
ClinGenDNAL4
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10126
Chemical/Pharm GKB GenePA27426
Clinical trialDNAL4
Miscellaneous
canSAR (ICR)DNAL4 (select the gene name)
Probes
Litterature
PubMed13 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDNAL4
EVEXDNAL4
GoPubMedDNAL4
iHOPDNAL4
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 12:02:00 CET 2017

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