Aliases for CFAP221 Gene
Aliases for CFAP221 Gene
- Cilia And Flagella Associated Protein 221 2 3 5
- Primary Ciliary Dyskinesia Protein 1 3 4
- PCDP1 3 4
- Flagellar Associated Protein 221 Homolog (Chlamydomonas) 2
- Primary Ciliary Dyskinesia 1 Homolog (Mouse) 2
- Cilia- And Flagella-Associated Protein 221 3
- Flagellar Associated Protein 221 Homolog 3
- Primary Ciliary Dyskinesia 1 Homolog 3
- FAP221 3
External Ids for CFAP221 Gene
- HGNC: 33720
- Entrez Gene: 200373
- Ensembl: ENSG00000163075
- UniProtKB: Q4G0U5
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. Gene Ontology (GO) annotations related to this gene include calmodulin binding.
UniProtKB/Swiss-Prot for CFAP221 Gene
-
May play a role in cilium morphogenesis.
Additional gene information for CFAP221 Gene
- Monarch Initiative
- Search for CFAP221 at DataMed
- Search for CFAP221 at HumanCyc
No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CFAP221 Gene
Genomics for CFAP221 Gene
GeneHancer (GH) Regulatory Elements for CFAP221 Gene
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 |
|---|---|---|---|---|---|---|---|---|---|---|
| GH02I119541 | Promoter/Enhancer | 2.2 | EPDnew Ensembl ENCODE dbSUPER | 550.8 | +2.4 | 2367 | 10.8 | PKNOX1 CLOCK ATF1 ARNT ARID4B SIN3A ZNF48 TCF12 ZNF213 GATA2 | CFAP221 SCTR TMEM185B TMEM177 EPB41L5 | |
| GH02I119419 | Promoter/Enhancer | 2.8 | EPDnew FANTOM5 Ensembl ENCODE dbSUPER | 11.1 | -116.3 | -116326 | 16.7 | HDGF FOXA2 SMAD1 MLX ARID4B ZNF2 ZBTB7B YY1 SLC30A9 POLR2B | TMEM37 SCTR LOC107105282 CFAP221 DBI STEAP3 PIR46529 | |
| GH02I119579 | Enhancer | 0.6 | ENCODE | 11.5 | +35.3 | 35267 | 0.1 | RXRA RAD21 NR2F2 YY1 JUND ATF3 HNF4G HNF4A | CFAP221 TMEM177 | |
| GH02I119474 | Enhancer | 0.3 | dbSUPER | 11 | -70.0 | -69950 | 0.7 | ZMYM3 | LOC107105282 SCTR TMEM37 CFAP221 STEAP3 | |
| GH02I119495 | Enhancer | 0.3 | dbSUPER | 10.5 | -48.7 | -48730 | 1.1 | RAD21 | SCTR TMEM37 CFAP221 TMEM177 LOC107105282 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around CFAP221 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for CFAP221 Gene
Genomic Locations for CFAP221 Gene
- chr2:119,544,423-119,662,251
- (GRCh38/hg38)
- Size:
- 117,829 bases
- Orientation:
- Plus strand
- chr2:120,302,008-120,419,827
- (GRCh37/hg19)
Genomic View for CFAP221 Gene
Genes around CFAP221 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 2q14.2 by Ensembl
- 2q14.2 by Entrez Gene
- 2q14.2 by HGNC
CFAP221 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- B4DEK0
- B4E2T5
Protein attributes for CFAP221 Gene
- Size:
- 840 amino acids
- Molecular mass:
- 96891 Da
- Quaternary structure:
-
- Interacts with calmodulin; calcium-dependent.
Protein Expression for CFAP221 Gene
Post-translational modifications for CFAP221 Gene
No Post-translational modifications
Other Protein References for CFAP221 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for CFAP221
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- antibodies-online: Search results for 2 available PCDP1 Antibodies ranked by validation data
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-
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Protein Products
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Assay Products
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:
Graphical View of Domain Structure for InterPro Entry
Q4G0U5- Family:
-
- Belongs to the PCDP1 family.
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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005516 | calmodulin binding | ISS | -- |
Phenotypes for CFAP221 Gene
- GenomeRNAi human phenotypes for CFAP221:
Animal Model Products
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-
-
ViGene Biosciences lentiviral particle packaged cDNA for CFAP221 gene
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CRISPR Products
-
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Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for CFAP221
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-
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for available PCDP1 gene related products
- orf clones - Search results for available PCDP1 gene related products
Cell Line Products
-
Horizon Cell Lines for CFAP221
-
ViGene Biosciences adenoviral particle packaged cDNA for CFAP221 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for CFAP221 gene
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No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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.
| Compartment | Confidence |
|---|---|
| cytoskeleton | 5 |
| nucleus | 2 |
| cytosol | 2 |
| plasma membrane | 1 |
| 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 | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for CFAP221 Gene
Pathways & Interactions for CFAP221 Gene
No Data Available
Interacting Proteins 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 | ISS,IEA | -- |
No data available for Pathways by source and SIGNOR curated interactions for CFAP221 Gene
Transcripts for CFAP221 Gene
mRNA/cDNA for CFAP221 Gene
- (13) REFSEQ mRNAs :
- (38) Selected AceView cDNA sequences:
- (17) Ensembl transcripts including schematic representations, and UCSC links where relevant :
CRISPR Products
-
OriGene CRISPR knockouts for CFAP221
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Inhibitory RNA Products
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- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for CFAP221
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CFAP221
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for available PCDP1 gene related products
- orf clones - Search results for available PCDP1 gene related products
Expression 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
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of CFAP221 Gene:
CFAP221mRNA 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(4.1)
Primer Products
-
OriGene qPCR primer pairs for CFAP221
- genomics-online: primer clones - Search results for available PCDP1 gene related products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | LOC459577 33 |
|
||
| -- 34 |
|
OneToOne | |||
| dog (Canis familiaris) |
Mammalia | PCDP1 33 |
|
||
| -- 34 |
|
OneToOne | |||
| cow (Bos Taurus) |
Mammalia | PCDP1 33 |
|
||
| -- 34 |
|
OneToOne | |||
| rat (Rattus norvegicus) |
Mammalia | Pcdp1 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Gm101 33 34 |
|
||
| Cfap221 16 |
|
||||
| oppossum (Monodelphis domestica) |
Mammalia | -- 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | PCDP1 33 |
|
||
| -- 34 |
|
OneToOne | |||
| lizard (Anolis carolinensis) |
Reptilia | -- 34 |
|
OneToOne | |
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.16079 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | si:ch73-222h13.1 33 34 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
OneToOne |
- Species where no ortholog for CFAP221 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya 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 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)
Paralogs for CFAP221 Gene
No data available for Paralogs for CFAP221 Gene
Variants for CFAP221 Gene
| SNP ID | Clin | Chr 02 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1000016354 | -- | 119,555,468(+) | G/T | genic_upstream_transcript_variant, intron_variant | |
| rs1000034910 | -- | 119,663,761(+) | C/A | genic_downstream_transcript_variant, intron_variant | |
| rs1000053628 | -- | 119,658,331(+) | T/C | genic_downstream_transcript_variant, intron_variant | |
| rs1000070571 | -- | 119,642,222(+) | T/C | genic_downstream_transcript_variant, intron_variant | |
| rs1000071478 | -- | 119,598,541(+) | G/A | intron_variant |
| 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 |
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
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| primary ciliary dyskinesia |
|
|
Search CFAP221 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for CFAP221
No data available for UniProtKB/Swiss-Prot and Genatlas for CFAP221 Gene
Publications for CFAP221 Gene
- 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 58
- 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 58
- Genetic susceptibility for chronic bronchitis in chronic obstructive pulmonary disease. (PMID: 25241909) Lee JH … COPDGene and ECLIPSE Investigators (Respiratory research 2014) 3 58
- 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 58
- 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 58
Products for CFAP221 Gene
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for 2 available PCDP1 Antibodies ranked by validation data
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- ViGene Biosciences adenoviral particle packaged cDNA for CFAP221 gene
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Sources for CFAP221 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
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- (128) ViGene Biosciences
- (129) HPO
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- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew