Aliases for CFAP221 Gene

Aliases for CFAP221 Gene

  • Cilia And Flagella Associated Protein 221 2 3 5
  • PCDP1 2 3 4
  • Cilia- And Flagella-Associated Protein 221 3 4
  • Primary Ciliary Dyskinesia Protein 1 3 4
  • FAP221 2 3
  • Flagellar Associated Protein 221 Homolog (Chlamydomonas) 2
  • Primary Ciliary Dyskinesia 1 Homolog (Mouse) 2
  • Flagellar Associated Protein 221 Homolog 3
  • Primary Ciliary Dyskinesia 1 Homolog 3
  • CFAP221 5

External Ids for CFAP221 Gene

Summaries for CFAP221 Gene

GeneCards Summary for CFAP221 Gene

CFAP221 (Cilia And Flagella Associated Protein 221) is a Protein Coding gene. Diseases associated with CFAP221 include Primary Ciliary Dyskinesia and Visceral Heterotaxy. Gene Ontology (GO) annotations related to this gene include calmodulin binding.

UniProtKB/Swiss-Prot Summary for CFAP221 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CFAP221 Gene

Genomics for CFAP221 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CFAP221 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
GH02J119541 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 600.7 +2.4 2398 10.8 ATF7 ZNF629 PRDM10 RFX1 SIX5 LEF1 IKZF1 ZNF692 JUND MTA2 CFAP221 SCTR TMEM185B TMEM177 EPB41L5 piR-32325-075
GH02J119419 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.1 -116.3 -116295 16.7 HNRNPL GATAD2A TEAD4 ZNF629 REST TFE3 SOX13 IKZF1 NFKBIZ KDM1A TMEM37 SCTR SCTR-AS1 CFAP221 DBI STEAP3 piR-46847-125
GH02J119485 Enhancer 1.8 VISTA Ensembl ENCODE CraniofacialAtlas dbSUPER 10.6 -56.9 -56892 11.8 HNRNPL GATAD2A CTCF ATF7 REST TFE3 KDM1A ZNF7 FOXA1 PRDM1 SCTR-AS1 SCTR CFAP221 C1QL2 TMEM37
GH02J119474 Enhancer 1.2 Ensembl ENCODE dbSUPER 11 -68.5 -68491 2.2 GATAD2A CTCF KDM1A ZNF143 ZIC2 RXRB PATZ1 REST RAD21 IRF2 SCTR-AS1 SCTR TMEM37 CFAP221 STEAP3 HSALNG0018330
GH02J119580 Enhancer 0.6 Ensembl 11.5 +35.8 35809 0.8 SP1 ATF3 YY1 JUND NR2F2 RAD21 HNF4A RXRA MAX REST CFAP221 piR-32325-075 TMEM177
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CFAP221 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CFAP221

Genomic Locations for CFAP221 Gene

Genomic Locations for CFAP221 Gene
chr2:119,544,392-119,662,251
(GRCh38/hg38)
Size:
117,860 bases
Orientation:
Plus strand
chr2:120,302,008-120,419,827
(GRCh37/hg19)
Size:
117,820 bases
Orientation:
Plus strand

Genomic View for CFAP221 Gene

Genes around CFAP221 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CFAP221 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CFAP221 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CFAP221 Gene

Proteins for CFAP221 Gene

  • Protein details for CFAP221 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q4G0U5-PCDP1_HUMAN
    Recommended name:
    Cilia- and flagella-associated protein 221
    Protein Accession:
    Q4G0U5
    Secondary Accessions:
    • B4DEK0
    • B4E2T5

    Protein attributes for CFAP221 Gene

    Size:
    840 amino acids
    Molecular mass:
    96891 Da
    Quaternary structure:
    • Interacts with calmodulin; calcium-dependent.

    Alternative splice isoforms for CFAP221 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CFAP221 Gene

Post-translational modifications for CFAP221 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CFAP221 Gene

Domains & Families for CFAP221 Gene

Gene Families for CFAP221 Gene

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

Protein Domains for CFAP221 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CFAP221 Gene

GenScript: Design optimal peptide antigens:
  • Primary ciliary dyskinesia protein 1 (PCDP1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q4G0U5

UniProtKB/Swiss-Prot:

PCDP1_HUMAN :
  • Belongs to the PCDP1 family.
Family:
  • Belongs to the PCDP1 family.
genes like me logo Genes that share domains with CFAP221: view

Function for CFAP221 Gene

Molecular function for CFAP221 Gene

UniProtKB/Swiss-Prot Function:
May play a role in cilium morphogenesis.

Phenotypes From GWAS Catalog for CFAP221 Gene

Gene Ontology (GO) - Molecular Function for CFAP221 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005516 calmodulin binding ISS --
genes like me logo Genes that share ontologies with CFAP221: view
genes like me logo Genes that share phenotypes with CFAP221: view

Human Phenotype Ontology for CFAP221 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CFAP221

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for CFAP221 Gene

Localization for CFAP221 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CFAP221 Gene

Cytoplasm, cytoskeleton, cilium axoneme. Cytoplasm.

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 CFAP221 gene
Compartment Confidence
cytoskeleton 4
nucleus 2
cytosol 2
extracellular 1
plasma membrane 0

Gene Ontology (GO) - Cellular Components for CFAP221 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005929 cilium IEA,ISS --
GO:0005930 axoneme ISS --
GO:0042995 cell projection IEA --
genes like me logo Genes that share ontologies with CFAP221: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CFAP221 Gene

Pathways & Interactions for CFAP221 Gene

PathCards logo

SuperPathways for CFAP221 Gene

No Data Available

Interacting Proteins for CFAP221 Gene

Gene Ontology (GO) - Biological Process for CFAP221 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003341 cilium movement IEA --
GO:0030030 cell projection organization IEA --
GO:0044458 motile cilium assembly IEA --
GO:0060271 cilium assembly IEA,ISS --
genes like me logo Genes that share ontologies with CFAP221: view

No data available for Pathways by source and SIGNOR curated interactions for CFAP221 Gene

Drugs & Compounds for CFAP221 Gene

No Compound Related Data Available

Transcripts for CFAP221 Gene

mRNA/cDNA for CFAP221 Gene

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

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CFAP221

Alternative Splicing Database (ASD) splice patterns (SP) for CFAP221 Gene

No ASD Table

Relevant External Links for CFAP221 Gene

GeneLoc Exon Structure for
CFAP221

Expression for CFAP221 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CFAP221 Gene

Protein differential expression in normal tissues from HIPED for CFAP221 Gene

This gene is overexpressed in Testis (49.4) and Ovary (19.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CFAP221 Gene



Protein tissue co-expression partners for CFAP221 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CFAP221

mRNA Expression by UniProt/SwissProt for CFAP221 Gene:

Q4G0U5-PCDP1_HUMAN
Tissue specificity: Expressed in ciliated respiratory epithelial cells and brain ependymal cells (at protein level).

Evidence on tissue expression from TISSUES for CFAP221 Gene

  • Nervous system(4.3)
genes like me logo Genes that share expression patterns with CFAP221: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for CFAP221 Gene

Orthologs for CFAP221 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CFAP221 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia LOC459577 30
  • 99.29 (n)
-- 31
  • 99 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia PCDP1 30
  • 84.55 (n)
-- 31
  • 79 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia PCDP1 30
  • 81.3 (n)
-- 31
  • 77 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Pcdp1 30
  • 77.55 (n)
Mouse
(Mus musculus)
Mammalia Gm101 30 31
  • 77.39 (n)
OneToOne
Cfap221 17
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 54 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 36 (a)
OneToOne
Chicken
(Gallus gallus)
Aves PCDP1 30
  • 60.16 (n)
-- 31
  • 47 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 47 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.16079 30
Zebrafish
(Danio rerio)
Actinopterygii si:ch73-222h13.1 30 31
  • 50.9 (n)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 41 (a)
OneToOne
Species where no ortholog for CFAP221 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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 CFAP221 Gene

ENSEMBL:
Gene Tree for CFAP221 (if available)
TreeFam:
Gene Tree for CFAP221 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CFAP221: view image

Paralogs for CFAP221 Gene

No data available for Paralogs for CFAP221 Gene

Variants for CFAP221 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CFAP221 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
rs11686014 - p.Met795Ile
rs2272058 - p.Val637Ile

Additional dbSNP identifiers (rs#s) for CFAP221 Gene

Structural Variations from Database of Genomic Variants (DGV) for CFAP221 Gene

Variant ID Type Subtype PubMed ID
esv2556349 CNV deletion 19546169
esv2720635 CNV deletion 23290073
esv2720636 CNV deletion 23290073
esv2720637 CNV deletion 23290073
esv2720638 CNV deletion 23290073
esv2720639 CNV deletion 23290073
esv2720641 CNV deletion 23290073
esv2720642 CNV deletion 23290073

Variation tolerance for CFAP221 Gene

Residual Variation Intolerance Score: 90% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.60; 65.34% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CFAP221 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CFAP221

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CFAP221 Gene

Disorders for CFAP221 Gene

MalaCards: The human disease database

(2) MalaCards diseases for CFAP221 Gene - From: Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
primary ciliary dyskinesia
  • pcd
visceral heterotaxy
  • heterotaxia
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with CFAP221: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CFAP221 Gene

Publications for CFAP221 Gene

  1. Primary ciliary dyskinesia in mice lacking the novel ciliary protein Pcdp1. (PMID: 18039845) Lee L … Fleming MD (Molecular and cellular biology 2008) 2 3 4
  2. Pcdp1 is a central apparatus protein that binds Ca(2+)-calmodulin and regulates ciliary motility. (PMID: 20421426) DiPetrillo CG … Smith EF (The Journal of cell biology 2010) 2 3
  3. Genetic susceptibility for chronic bronchitis in chronic obstructive pulmonary disease. (PMID: 25241909) Lee JH … COPDGene and ECLIPSE Investigators (Respiratory research 2014) 3
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3
  5. Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies. (PMID: 18839057) Lesch KP … Jacob C (Journal of neural transmission (Vienna, Austria : 1996) 2008) 3

Products for CFAP221 Gene

Sources for CFAP221 Gene