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Aliases for DRC3 Gene

Aliases for DRC3 Gene

  • Dynein Regulatory Complex Subunit 3 2 3 5
  • Leucine-Rich Repeat-Containing Protein 48 3 4
  • Leucine Rich Repeat Containing 48 2 3
  • LRRC48 3 4
  • CFAP134 3

External Ids for DRC3 Gene

Previous HGNC Symbols for DRC3 Gene

  • LRRC48

Summaries for DRC3 Gene

GeneCards Summary for DRC3 Gene

DRC3 (Dynein Regulatory Complex Subunit 3) is a Protein Coding gene. Diseases associated with DRC3 include Primary Ciliary Dyskinesia. An important paralog of this gene is CNTRL.

UniProtKB/Swiss-Prot for DRC3 Gene

  • Key component of the nexin-dynein regulatory complex (N-DRC), a key regulator of ciliary motility.

Gene Wiki entry for DRC3 Gene

Additional gene information for DRC3 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DRC3 Gene

Genomics for DRC3 Gene

Regulatory Elements for DRC3 Gene

Enhancers for DRC3 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
GH17H017689 2 FANTOM5 Ensembl ENCODE dbSUPER 19.6 -277.4 -277390 12 HDGF PKNOX1 FOXA2 ZFP64 ARID4B SIN3A FEZF1 DMAP1 YBX1 ZNF2 DRC3 SREBF1 RAI1 ENSG00000264885 ZNF286B LOC100419436 DRG2 MIR33B FLCN MYO15A
GH17H017913 1.9 FANTOM5 Ensembl ENCODE dbSUPER 10.5 -58.5 -58502 1 PKNOX1 ATF1 MLX ARID4B SIN3A FEZF1 BRCA1 ZNF2 TCF12 GLIS2 DRG2 RAI1 FOXO3B ENSG00000264885 SMCR8 LOC100419436 RPL13P12 ZNF286B FAM106A MPRIP-AS1
GH17H017708 1.9 FANTOM5 Ensembl ENCODE dbSUPER 10.4 -260.8 -260821 6 HDGF PKNOX1 FOXA2 MLX ARID4B SIN3A DMAP1 ZBTB7B SLC30A9 ZNF207 RAI1 ENSG00000264885 ZNF286B FOXO3B LOC100419436 UPF3AP1 DRG2 MPRIP-AS1 SREBF1 MIR33B
GH17H017970 1.7 FANTOM5 ENCODE dbSUPER 11.3 -0.7 -717 3 HDGF PKNOX1 FOXA2 ARID4B SIN3A DMAP1 ZBTB7B YY1 SLC30A9 ZNF143 SMCR8 FAM106A FOXO3B RAI1 DRG2 TOM1L2 FLII ZNF286B USP32P2 CCDC144B
GH17H017918 1.5 Ensembl ENCODE dbSUPER 11.5 -51.6 -51625 5 PKNOX1 SIN3A FEZF1 ZNF2 ZNF121 GLIS2 FOS ATF7 KLF7 DEK NOS2P2 ENSG00000197815 TOM1L2 TBC1D3P4 YWHAEP2 ENSG00000262262 SMCR8 FOXO3B DRC3 DRG2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DRC3 on UCSC Golden Path with GeneCards custom track

Promoters for DRC3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000092024 -280 1801 HDGF PKNOX1 FOXA2 ARID4B SIN3A DMAP1 ZBTB7B YY1 SLC30A9 ZNF143

Genomic Location for DRC3 Gene

Chromosome:
17
Start:
17,972,780 bp from pter
End:
18,016,889 bp from pter
Size:
44,110 bases
Orientation:
Plus strand

Genomic View for DRC3 Gene

Genes around DRC3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DRC3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DRC3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DRC3 Gene

Proteins for DRC3 Gene

  • Protein details for DRC3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H069-DRC3_HUMAN
    Recommended name:
    Dynein regulatory complex subunit 3
    Protein Accession:
    Q9H069
    Secondary Accessions:
    • A8KAE6
    • Q86SF9
    • Q86W73
    • Q8IWG0

    Protein attributes for DRC3 Gene

    Size:
    523 amino acids
    Molecular mass:
    61054 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for DRC3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DRC3 Gene

Post-translational modifications for DRC3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for DRC3 Gene

Domains & Families for DRC3 Gene

Gene Families for DRC3 Gene

Protein Domains for DRC3 Gene

Suggested Antigen Peptide Sequences for DRC3 Gene

Graphical View of Domain Structure for InterPro Entry

Q9H069

UniProtKB/Swiss-Prot:

DRC3_HUMAN :
  • Belongs to the DRC3 family.
Family:
  • Belongs to the DRC3 family.
genes like me logo Genes that share domains with DRC3: view

Function for DRC3 Gene

Molecular function for DRC3 Gene

UniProtKB/Swiss-Prot Function:
Key component of the nexin-dynein regulatory complex (N-DRC), a key regulator of ciliary motility.

Phenotypes From GWAS Catalog for DRC3 Gene

Phenotypes for DRC3 Gene

genes like me logo Genes that share phenotypes with DRC3: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for DRC3 Gene

Localization for DRC3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DRC3 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 DRC3 gene
Compartment Confidence
cytoskeleton 5
nucleus 1
cytosol 1

Gene Ontology (GO) - Cellular Components for DRC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0005856 cytoskeleton IEA --
GO:0005930 axoneme IDA 26387594
GO:0042995 cell projection IEA --
genes like me logo Genes that share ontologies with DRC3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for DRC3 Gene

Pathways & Interactions for DRC3 Gene

No Data Available

Interacting Proteins for DRC3 Gene

Gene Ontology (GO) - Biological Process for DRC3 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for DRC3 Gene

Drugs & Compounds for DRC3 Gene

No Compound Related Data Available

Transcripts for DRC3 Gene

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for DRC3 Gene

No ASD Table

Relevant External Links for DRC3 Gene

GeneLoc Exon Structure for
DRC3
ECgene alternative splicing isoforms for
DRC3

Expression for DRC3 Gene

NURSA nuclear receptor signaling pathways regulating expression of DRC3 Gene:

DRC3

Evidence on tissue expression from TISSUES for DRC3 Gene

  • Nervous system(4.3)
  • Lung(4.2)
  • Intestine(4)
genes like me logo Genes that share expression patterns with DRC3: view

Primer Products

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for DRC3 Gene

Orthologs for DRC3 Gene

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

Orthologs for DRC3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LRRC48 33 34
  • 99.04 (n)
cow
(Bos Taurus)
Mammalia LRRC48 33 34
  • 85.92 (n)
dog
(Canis familiaris)
Mammalia LRRC48 33 34
  • 85.79 (n)
mouse
(Mus musculus)
Mammalia Lrrc48 33 34
  • 83.43 (n)
Drc3 16
rat
(Rattus norvegicus)
Mammalia Lrrc48 33
  • 82.92 (n)
oppossum
(Monodelphis domestica)
Mammalia LRRC48 34
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LRRC48 34
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves LRRC48 33 34
  • 62.94 (n)
lizard
(Anolis carolinensis)
Reptilia LRRC48 34
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lrrc48 33
  • 64.41 (n)
zebrafish
(Danio rerio)
Actinopterygii lrrc48 33 34
  • 59.21 (n)
fruit fly
(Drosophila melanogaster)
Insecta Ppr-Y 33 34
  • 46 (n)
TbCMF46 34
  • 30 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010129 33
  • 45.69 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SDS22 34
  • 17 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 52 (a)
OneToOne
Species where no ortholog for DRC3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for DRC3 Gene

ENSEMBL:
Gene Tree for DRC3 (if available)
TreeFam:
Gene Tree for DRC3 (if available)

Paralogs for DRC3 Gene

Paralogs for DRC3 Gene

genes like me logo Genes that share paralogs with DRC3: view

Variants for DRC3 Gene

Sequence variations from dbSNP and Humsavar for DRC3 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs1000170772 -- 18,011,005(+) CAGGC(C/T)GGAGT intron-variant
rs1000190314 -- 18,011,876(+) GGAGT(G/T)CAGTG intron-variant
rs1000347638 -- 18,004,737(+) CTATC(C/T)TGGAA intron-variant, downstream-variant-500B
rs1000470998 -- 18,009,746(+) TGTTA(A/C)CTAAT intron-variant, downstream-variant-500B
rs1000490206 -- 18,004,551(+) ATCCA(C/T)AGGTG intron-variant, downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for DRC3 Gene

Variant ID Type Subtype PubMed ID
esv2668379 CNV deletion 23128226
esv3640139 CNV loss 21293372
nsv1132448 CNV duplication 24896259
nsv155 OTHER inversion 15895083
nsv499114 OTHER inversion 21111241
nsv510701 CNV deletion 20534489
nsv960428 CNV duplication 23825009

Variation tolerance for DRC3 Gene

Residual Variation Intolerance Score: 86.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.29; 62.80% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DRC3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DRC3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DRC3 Gene

Disorders for DRC3 Gene

MalaCards: The human disease database

(1) MalaCards diseases for DRC3 Gene - From: GeneCards

Disorder Aliases PubMed IDs
primary ciliary dyskinesia
  • kartagener syndrome
- elite association - COSMIC cancer census association via MalaCards
Search DRC3 in MalaCards View complete list of genes associated with diseases

Relevant External Links for DRC3

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DRC3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DRC3
genes like me logo Genes that share disorders with DRC3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DRC3 Gene

Publications for DRC3 Gene

  1. The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans. (PMID: 23354437) Wirschell M … Omran H (Nature genetics 2013) 2 3 4 60
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  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 60
  4. Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse. (PMID: 11997338) Bi W … Lupski JR (Genome research 2002) 2 3 60
  5. Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S … Poustka A (Genome research 2001) 3 4 60

Products for DRC3 Gene

Sources for DRC3 Gene

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