Aliases for CFAP73 Gene

Aliases for CFAP73 Gene

  • Cilia And Flagella Associated Protein 73 2 3 5
  • Cilia- And Flagella-Associated Protein 73 3 4
  • Coiled-Coil Domain-Containing Protein 42B 3 4
  • Coiled-Coil Domain Containing 42B 2 3
  • CCDC42B 3 4
  • MIA2 2 3
  • CFAP73 5

External Ids for CFAP73 Gene

Previous HGNC Symbols for CFAP73 Gene

  • CCDC42B

Summaries for CFAP73 Gene

GeneCards Summary for CFAP73 Gene

CFAP73 (Cilia And Flagella Associated Protein 73) is a Protein Coding gene. Diseases associated with CFAP73 include Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects. An important paralog of this gene is CCDC42.

UniProtKB/Swiss-Prot Summary for CFAP73 Gene

  • May play a role in ciliary/flagellar motility by regulating the assembly and the activity of axonemal inner dynein arm.

Additional gene information for CFAP73 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CFAP73 Gene

Genomics for CFAP73 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CFAP73 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
GH12J113149 Promoter/Enhancer 1.3 Ensembl ENCODE CraniofacialAtlas dbSUPER 600.7 +0.6 596 1.1 TEAD4 RFX1 KDM1A ZIC2 RFX3 EGR1 BMI1 MAZ ZFHX2 SIN3A CFAP73 RASAL1 ENSG00000201208 RITA1 DDX54 lnc-RITA1-1
GH12J113183 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 11.1 +36.5 36492 3.7 SP1 GATAD2A ATF7 PRDM10 ZNF629 TFE3 IKZF1 KDM1A ZNF692 POLR2A RITA1 DDX54 HECTD4 RBM19 CFAP73 DYNLL1P4 ENSG00000257286 TPCN1
GH12J113069 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 11.5 -78.8 -78762 4.4 SP1 GATAD2A PRDM10 REST KDM1A STAT3 RELA RXRB IKZF2 RCOR1 RBM19 NAA25 ENSG00000201208 DDX54 RITA1 CFAP73 DTX1 PLBD2 SDSL piR-43104-010
GH12J113086 Enhancer 1.1 FANTOM5 ENCODE dbSUPER 11.3 -62.0 -62010 2 SP1 KDM1A IKZF2 SCRT2 RELB RUNX3 GATAD2B TCF12 ZNF623 BCL11A DTX1 CFAP73 RASAL1 RF00017-1283 piR-43104-010
GH12J113039 Enhancer 1.1 FANTOM5 Ensembl ENCODE 11.3 -108.4 -108361 2.8 IKZF1 SP1 CEBPA CEBPB NR3C1 FOS NR2C2 JUND FOSL1 BCOR OAS3 ENSG00000201208 RITA1 DDX54 CFAP73 ENSG00000257452 DTX1 SDSL SLC8B1 OAS2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CFAP73 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CFAP73

Genomic Locations for CFAP73 Gene

Genomic Locations for CFAP73 Gene
chr12:113,149,162-113,159,276
(GRCh38/hg38)
Size:
10,115 bases
Orientation:
Plus strand
chr12:113,587,663-113,597,081
(GRCh37/hg19)
Size:
9,419 bases
Orientation:
Plus strand

Genomic View for CFAP73 Gene

Genes around CFAP73 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CFAP73 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CFAP73 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CFAP73 Gene

Proteins for CFAP73 Gene

  • Protein details for CFAP73 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A6NFT4-CFA73_HUMAN
    Recommended name:
    Cilia- and flagella-associated protein 73
    Protein Accession:
    A6NFT4

    Protein attributes for CFAP73 Gene

    Size:
    308 amino acids
    Molecular mass:
    35914 Da
    Quaternary structure:
    No Data Available

neXtProt entry for CFAP73 Gene

Post-translational modifications for CFAP73 Gene

No Post-translational modifications

Other Protein References for CFAP73 Gene

No data available for DME Specific Peptides for CFAP73 Gene

Domains & Families for CFAP73 Gene

Gene Families for CFAP73 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CFAP73 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CFAP73 Gene

GenScript: Design optimal peptide antigens:
  • Coiled-coil domain-containing protein 42B (CC42B_HUMAN)

Graphical View of Domain Structure for InterPro Entry

A6NFT4

UniProtKB/Swiss-Prot:

CFA73_HUMAN :
  • Belongs to the CFAP73 family.
Family:
  • Belongs to the CFAP73 family.
genes like me logo Genes that share domains with CFAP73: view

Function for CFAP73 Gene

Molecular function for CFAP73 Gene

UniProtKB/Swiss-Prot Function:
May play a role in ciliary/flagellar motility by regulating the assembly and the activity of axonemal inner dynein arm.

Phenotypes From GWAS Catalog for CFAP73 Gene

Gene Ontology (GO) - Molecular Function for CFAP73 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0070840 dynein complex binding ISS --
genes like me logo Genes that share ontologies with CFAP73: view

Phenotypes for CFAP73 Gene

genes like me logo Genes that share phenotypes with CFAP73: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CFAP73

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CFAP73 Gene

Localization for CFAP73 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CFAP73 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 CFAP73 gene
Compartment Confidence
cytoskeleton 4
nucleus 2
plasma membrane 1
extracellular 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli fibrillar center (2)
  • Nucleoplasm (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CFAP73 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005929 cilium IEA --
GO:0031514 motile cilium ISS --
GO:0042995 cell projection IEA --
genes like me logo Genes that share ontologies with CFAP73: view

Pathways & Interactions for CFAP73 Gene

PathCards logo

SuperPathways for CFAP73 Gene

No Data Available

Interacting Proteins for CFAP73 Gene

Gene Ontology (GO) - Biological Process for CFAP73 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003341 cilium movement ISS --
GO:0036159 inner dynein arm assembly ISS --
GO:2000574 regulation of microtubule motor activity ISS --
genes like me logo Genes that share ontologies with CFAP73: view

No data available for Pathways by source and SIGNOR curated interactions for CFAP73 Gene

Drugs & Compounds for CFAP73 Gene

No Compound Related Data Available

Transcripts for CFAP73 Gene

mRNA/cDNA for CFAP73 Gene

1 REFSEQ mRNAs :
3 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CFAP73

Alternative Splicing Database (ASD) splice patterns (SP) for CFAP73 Gene

No ASD Table

Relevant External Links for CFAP73 Gene

GeneLoc Exon Structure for
CFAP73

Expression for CFAP73 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CFAP73

No Expression Related Data Available

Primer Products

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , 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 CFAP73 Gene

Orthologs for CFAP73 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CFAP73 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CCDC42B 30 31
  • 99.57 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CCDC42B 30 31
  • 83.12 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CCDC42B 30 31
  • 82.44 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ccdc42b 30
  • 68.87 (n)
Mouse
(Mus musculus)
Mammalia Ccdc42b 30 31
  • 67.97 (n)
OneToOne
Cfap73 17
Platypus
(Ornithorhynchus anatinus)
Mammalia CCDC42B 31
  • 38 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CCDC42B 30 31
  • 55.21 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CCDC42B 31
  • 39 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii ccdc42b 31
  • 27 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.4208 31
  • 39 (a)
OneToMany
Species where no ortholog for CFAP73 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • Fruit Fly (Drosophila melanogaster)
  • 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)
  • Oppossum (Monodelphis domestica)
  • 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 Vase (Ciona intestinalis)
  • 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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for CFAP73 Gene

ENSEMBL:
Gene Tree for CFAP73 (if available)
TreeFam:
Gene Tree for CFAP73 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CFAP73: view image

Paralogs for CFAP73 Gene

Paralogs for CFAP73 Gene

genes like me logo Genes that share paralogs with CFAP73: view

Variants for CFAP73 Gene

Additional dbSNP identifiers (rs#s) for CFAP73 Gene

Structural Variations from Database of Genomic Variants (DGV) for CFAP73 Gene

Variant ID Type Subtype PubMed ID
dgv2884n54 CNV loss 21841781
esv3630792 CNV gain 21293372
esv3892265 CNV gain 25118596
nsv519540 CNV gain+loss 19592680

Variation tolerance for CFAP73 Gene

Gene Damage Index Score: 3.65; 56.81% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CFAP73 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CFAP73

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CFAP73 Gene

Disorders for CFAP73 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CFAP73 Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with CFAP73: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CFAP73 Gene

Publications for CFAP73 Gene

  1. The MIA complex is a conserved and novel dynein regulator essential for normal ciliary motility. (PMID: 23569216) Yamamoto R … Sale WS (The Journal of cell biology 2013) 2 3
  2. The finished DNA sequence of human chromosome 12. (PMID: 16541075) Scherer SE … Baylor College of Medicine Human Genome Sequencing Center Sequence Production Team (Nature 2006) 3 4
  3. Normalization and subtraction: two approaches to facilitate gene discovery. (PMID: 8889548) Bonaldo MF … Soares MB (Genome research 1996) 3

Products for CFAP73 Gene

Sources for CFAP73 Gene