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Aliases for DRC7 Gene

Aliases for DRC7 Gene

  • Dynein Regulatory Complex Subunit 7 2 3 5
  • Coiled-Coil Domain-Containing Protein Lobo Homolog 3 4
  • Coiled-Coil Domain-Containing Protein 135 3 4
  • Coiled-Coil Domain Containing 135 2 3
  • C16orf50 3 4
  • CCDC135 3 4
  • Chromosome 16 Open Reading Frame 50 2
  • CFAP50 3
  • FAP50 3

External Ids for DRC7 Gene

Previous HGNC Symbols for DRC7 Gene

  • C16orf50
  • CCDC135

Summaries for DRC7 Gene

GeneCards Summary for DRC7 Gene

DRC7 (Dynein Regulatory Complex Subunit 7) is a Protein Coding gene. Diseases associated with DRC7 include Meckel Syndrome, Type 1 and Joubert Syndrome 1.

UniProtKB/Swiss-Prot for DRC7 Gene

  • Key component of the nexin-dynein regulatory complex (N-DRC), essential for N-DRC integrity. Involved in the regulation of flagellar motility.

Gene Wiki entry for DRC7 Gene

Additional gene information for DRC7 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DRC7 Gene

Genomics for DRC7 Gene

GeneHancer (GH) Regulatory Elements for DRC7 Gene

Promoters and enhancers for DRC7 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16I057693 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE dbSUPER 571.9 +0.1 91 1.9 HDGF FOXA2 ZFP64 ARID4B SIN3A ZNF48 YY1 ETS1 GTF3C2 ZNF143 DRC7 ENSG00000260467
GH16I057692 Enhancer 0.6 dbSUPER 557.1 -1.7 -1732 1 BCOR ZNF189 NR4A1 MAFG ZMYM3 MAFF CTBP1 ZNF316 KDM1A EMSY DRC7 ENSG00000260467 ADGRG3
GH16I057688 Enhancer 1.4 Ensembl ENCODE dbSUPER 34.9 -5.1 -5116 2.1 HDGF HNRNPUL1 PKNOX1 SMAD1 ARNT POLR2B ZNF766 CBX5 E2F8 REST DRC7 CNOT1 ENSG00000260467 CCDC102A RSPRY1 ADGRG3
GH16I057666 Promoter/Enhancer 2 EPDnew FANTOM5 Ensembl ENCODE 14.7 -26.4 -26376 4 HDGF PKNOX1 MLX ARID4B DMAP1 ZNF766 ZNF143 ZNF263 ZHX2 MXD4 ADGRG3 DRC7 RSPRY1 ZNF319 SETD6 ENSG00000261114 ENSG00000260467 FAM192A USB1
GH16I057675 Enhancer 1.2 Ensembl ENCODE dbSUPER 14.6 -18.7 -18728 0.8 ATF1 YY1 ZNF335 TCF12 ATF7 CREM SMARCC1 PHF21A CEBPB REST DRC7 ADGRG1 ENSG00000260467 ADGRG3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around DRC7 on UCSC Golden Path with GeneCards custom track

Genomic Locations for DRC7 Gene

Genomic Locations for DRC7 Gene
chr16:57,694,793-57,731,805
(GRCh38/hg38)
Size:
37,013 bases
Orientation:
Plus strand
chr16:57,728,705-57,765,717
(GRCh37/hg19)

Genomic View for DRC7 Gene

Genes around DRC7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DRC7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DRC7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DRC7 Gene

Proteins for DRC7 Gene

  • Protein details for DRC7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IY82-DRC7_HUMAN
    Recommended name:
    Dynein regulatory complex subunit 7
    Protein Accession:
    Q8IY82
    Secondary Accessions:
    • A8K943
    • Q8NAA0
    • Q9H080

    Protein attributes for DRC7 Gene

    Size:
    874 amino acids
    Molecular mass:
    103497 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for DRC7 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DRC7 Gene

Post-translational modifications for DRC7 Gene

No Post-translational modifications

No data available for DME Specific Peptides for DRC7 Gene

Domains & Families for DRC7 Gene

Gene Families for DRC7 Gene

Protein Domains for DRC7 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DRC7 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8IY82

UniProtKB/Swiss-Prot:

DRC7_HUMAN :
  • Belongs to the DRC7 family.
Family:
  • Belongs to the DRC7 family.
genes like me logo Genes that share domains with DRC7: view

Function for DRC7 Gene

Molecular function for DRC7 Gene

UniProtKB/Swiss-Prot Function:
Key component of the nexin-dynein regulatory complex (N-DRC), essential for N-DRC integrity. Involved in the regulation of flagellar motility.

Gene Ontology (GO) - Molecular Function for DRC7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 24407287
genes like me logo Genes that share ontologies with DRC7: view
genes like me logo Genes that share phenotypes with DRC7: view

Animal Model Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for DRC7 Gene

Localization for DRC7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DRC7 Gene

Cell projection, cilium, flagellum. Cytoplasm, cytoskeleton, cilium axoneme. Note=Associated with the outer doublet microtubules (OD). {ECO:0000250 UniProtKB:A8JAM0}.

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 DRC7 gene
Compartment Confidence
cytoskeleton 3
nucleus 2
cytosol 2

Gene Ontology (GO) - Cellular Components for DRC7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0005856 cytoskeleton IEA --
GO:0005929 cilium IEA --
GO:0031514 motile cilium IEA --
GO:0042995 cell projection IEA --
genes like me logo Genes that share ontologies with DRC7: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for DRC7 Gene

Pathways & Interactions for DRC7 Gene

No Data Available

Gene Ontology (GO) - Biological Process for DRC7 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for DRC7 Gene

Drugs & Compounds for DRC7 Gene

No Compound Related Data Available

Transcripts for DRC7 Gene

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for DRC7 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^ 20
SP1: -
SP2: - -
SP3:
SP4:

Relevant External Links for DRC7 Gene

GeneLoc Exon Structure for
DRC7
ECgene alternative splicing isoforms for
DRC7

Expression for DRC7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DRC7 Gene

Protein differential expression in normal tissues from HIPED for DRC7 Gene

This gene is overexpressed in Plasma (24.4), Pancreas (20.6), Skin (16.2), and Platelet (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for DRC7 Gene



NURSA nuclear receptor signaling pathways regulating expression of DRC7 Gene:

DRC7
genes like me logo Genes that share expression patterns with DRC7: 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 , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for DRC7 Gene

Orthologs for DRC7 Gene

This gene was present in the common ancestor of animals.

Orthologs for DRC7 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CCDC135 33 34
  • 94.28 (n)
cow
(Bos Taurus)
Mammalia CCDC135 33 34
  • 87.77 (n)
dog
(Canis familiaris)
Mammalia CCDC135 33 34
  • 86.84 (n)
rat
(Rattus norvegicus)
Mammalia Ccdc135 33
  • 83.66 (n)
mouse
(Mus musculus)
Mammalia Ccdc135 33 34
  • 83.56 (n)
Drc7 16
oppossum
(Monodelphis domestica)
Mammalia CCDC135 34
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CCDC135 34
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves CCDC135 33 34
  • 64.25 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 66 (a)
OneToMany
-- 34
  • 64 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia ccdc135 33
  • 60.15 (n)
Str.5324 33
zebrafish
(Danio rerio)
Actinopterygii LOC555782 33
  • 54.63 (n)
ccdc135 34
  • 47 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002677 33
  • 49.75 (n)
fruit fly
(Drosophila melanogaster)
Insecta lobo 33 34
  • 45.55 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 51 (a)
OneToOne
Species where no ortholog for DRC7 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)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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 DRC7 Gene

ENSEMBL:
Gene Tree for DRC7 (if available)
TreeFam:
Gene Tree for DRC7 (if available)

Paralogs for DRC7 Gene

No data available for Paralogs for DRC7 Gene

Variants for DRC7 Gene

Sequence variations from dbSNP and Humsavar for DRC7 Gene

SNP ID Clin Chr 16 pos Variation AA Info Type
rs1000275564 -- 57,708,428(+) T/C intron_variant
rs1000327252 -- 57,707,999(+) C/T intron_variant
rs1000621477 -- 57,701,169(+) C/T intron_variant
rs1000635484 -- 57,721,848(+) A/C intron_variant
rs1000791692 -- 57,727,670(+) G/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for DRC7 Gene

Variant ID Type Subtype PubMed ID
dgv370e201 CNV deletion 23290073
dgv5148n54 CNV loss 21841781
esv2661234 CNV deletion 23128226
esv2676910 CNV deletion 23128226
esv2714536 CNV deletion 23290073
esv2714537 CNV deletion 23290073
esv2714538 CNV deletion 23290073
esv2714539 CNV deletion 23290073
esv2714542 CNV deletion 23290073
esv2714543 CNV deletion 23290073
nsv1069952 CNV deletion 25765185
nsv457490 CNV loss 19166990
nsv471089 CNV loss 18288195
nsv509622 CNV insertion 20534489
nsv525464 CNV gain 19592680
nsv528250 CNV loss 19592680
nsv572724 CNV loss 21841781
nsv833246 CNV loss 17160897

Variation tolerance for DRC7 Gene

Residual Variation Intolerance Score: 89.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 20.04; 99.01% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DRC7 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DRC7

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DRC7 Gene

Disorders for DRC7 Gene

MalaCards: The human disease database

(2) MalaCards diseases for DRC7 Gene - From: DISEASES

Disorder Aliases PubMed IDs
meckel syndrome, type 1
  • mks1
joubert syndrome 1
  • jbts1
- elite association - COSMIC cancer census association via MalaCards
Search DRC7 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for DRC7

genes like me logo Genes that share disorders with DRC7: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DRC7 Gene

Publications for DRC7 Gene

  1. Novel transglutaminase-like peptidase and C2 domains elucidate the structure, biogenesis and evolution of the ciliary compartment. (PMID: 22983010) Zhang D … Aravind L (Cell cycle (Georgetown, Tex.) 2012) 2 3 58
  2. Regulation of flagellar motility by the conserved flagellar protein CG34110/Ccdc135/FAP50. (PMID: 21289096) Yang Y … Lu X (Molecular biology of the cell 2011) 2 3 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. 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 58
  5. Promyelocytic leukemia protein interacts with the apoptosis-associated speck-like protein to limit inflammasome activation. (PMID: 24407287) Dowling JK … O'Neill LA (The Journal of biological chemistry 2014) 3 58

Products for DRC7 Gene

Sources for DRC7 Gene

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