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. GO annotations related to this gene include calmodulin binding.
UniProtKB/Swiss-Prot for CFAP221 Gene
-
May play a role in cilium morphogenesis.
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
Regulatory Elements for CFAP221 Gene
Enhancers for CFAP221 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 |
|---|---|---|---|---|---|---|---|---|
| GH02G119419 | 2 | FANTOM5 Ensembl ENCODE dbSUPER | 11.1 | -116.3 | -116327 | 16.7 | HDGF PKNOX1 FOXA2 MLX ARID4B ZNF2 ZBTB7B YY1 SLC30A9 ZNF143 | SCTR ENSG00000231013 CFAP221 TMEM37 DBI STEAP3 PIR46529 |
| GH02G119495 | 1.1 | dbSUPER | 10.5 | -48.7 | -48731 | 1.1 | HDGF PKNOX1 ZFP64 ARID4B SIN3A FEZF1 YY1 CBX5 FOS ZNF263 | SCTR TMEM37 CFAP221 MTND4P26 TMEM177 ENSG00000231013 |
| GH02G119474 | 0.8 | dbSUPER | 11 | -70.0 | -69951 | 0.7 | HDAC1 PKNOX1 CBX3 NFXL1 ZBTB40 ETV6 IKZF2 TBX21 CREB3 RAD51 | SCTR TMEM37 CFAP221 STEAP3 ENSG00000231013 |
| GH02G119579 | 0.6 | ENCODE | 11.5 | +35.3 | 35267 | 0.1 | RAD21 NR2F2 YY1 FOXA1 JUND ATF3 HNF4G HNF4A | CFAP221 TMEM177 |
| GH02G119477 | 0.6 | dbSUPER | 10.5 | -65.8 | -65812 | 1.4 | SMARCA5 ZNF146 ZNF280D HDAC2 ID3 KDM1A ZIC2 | ENSG00000231013 SCTR CFAP221 |
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around CFAP221 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Location for CFAP221 Gene
- Chromosome:
- 2
- Start:
- 119,544,423 bp from pter
- End:
- 119,662,251 bp from pter
- Size:
- 117,829 bases
- Orientation:
- Plus strand
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
Other Protein References for CFAP221 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for CFAP221
- Invitrogen Antibodies for CFAP221
- antibodies-online Antibodies for CFAP221: See all 10
- Search GeneTex for Antibodies for CFAP221
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for CFAP221
- Origene Custom Protein Services for CFAP221
- Search GeneTex for Proteins for CFAP221
Assay Products
No data available for DME Specific Peptides for CFAP221 Gene
Domains & Families for CFAP221 Gene
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.
No data available for Gene Families for CFAP221 Gene
Function for CFAP221 Gene
Molecular function for CFAP221 Gene
- UniProtKB/Swiss-Prot Function:
- May play a role in cilium morphogenesis.
| 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
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
-
ViGene Biosciences lentiviral particle packaged cDNA for CFAP221 gene
- Search ViGene Biosciences for CFAP221
CRISPR Products
-
OriGene CRISPR knockouts for CFAP221
- GenScript: Design CRISPR guide RNA sequences for CFAP221
miRNA Products
- Search ViGene Biosciences for CFAP221
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for CFAP221
- Browse OriGene Inhibitory RNA Products For CFAP221
- Search ViGene Biosciences for CFAP221
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
- Search ViGene Biosciences for CFAP221
Flow Cytometry Products
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 | ISS | -- |
| GO:0005930 | axoneme | ISS | -- |
| GO:0042995 | cell projection | IEA | -- |
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:0008285 | negative regulation of cell proliferation | IEA | -- |
| GO:0030030 | cell projection organization | IEA | -- |
| GO:0044458 | motile cilium assembly | IEA | -- |
| GO:0060271 | cilium assembly | ISS | -- |
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
- GenScript: Design CRISPR guide RNA sequences for CFAP221
miRNA Products
- Search ViGene Biosciences for CFAP221
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for CFAP221
- Browse OriGene Inhibitory RNA Products For CFAP221
- Search ViGene Biosciences for CFAP221
Flow Cytometry 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
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 34 |
|
||
| -- 35 |
|
OneToOne | |||
| dog (Canis familiaris) |
Mammalia | PCDP1 34 |
|
||
| -- 35 |
|
OneToOne | |||
| cow (Bos Taurus) |
Mammalia | PCDP1 34 |
|
||
| -- 35 |
|
OneToOne | |||
| rat (Rattus norvegicus) |
Mammalia | Pcdp1 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Gm101 35 34 |
|
OneToOne | |
| Cfap221 16 |
|
||||
| oppossum (Monodelphis domestica) |
Mammalia | -- 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | PCDP1 34 |
|
||
| -- 35 |
|
OneToOne | |||
| lizard (Anolis carolinensis) |
Reptilia | -- 35 |
|
OneToOne | |
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.16079 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | si:ch73-222h13.1 34 35 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 35 |
|
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 | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs1000016354 | -- | 119,555,468(+) | TCTAA(G/T)CACTT | intron-variant | |
| rs1000034910 | -- | 119,663,761(+) | TAGAA(A/C)CCAAG | intron-variant | |
| rs1000053628 | -- | 119,658,331(+) | GCCCC(C/T)CAGGT | intron-variant | |
| rs1000070571 | -- | 119,642,222(+) | GTATC(C/T)ATCTT | intron-variant | |
| rs1000071478 | -- | 119,598,541(+) | TAAGG(A/G)TGGTG | 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)
Relevant External Links 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
Relevant External Links for CFAP221
- Atlas of Genetics and Cytogenetics in Oncology and Haematology:
- 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 M.D. (Mol. Cell. Biol. 2008) 2 3 4 64
- Pcdp1 is a central apparatus protein that binds Ca(2+)-calmodulin and regulates ciliary motility. (PMID: 20421426) DiPetrillo C.G. … Smith E.F. (J. Cell Biol. 2010) 2 3 64
- Genetic susceptibility for chronic bronchitis in chronic obstructive pulmonary disease. (PMID: 25241909) Lee J. … Silverman E.K. (Respir. Res. 2014) 3 64
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 64
- Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies. (PMID: 18839057) Lesch K.P. … Jacob C. (J Neural Transm 2008) 3 64
Products for CFAP221 Gene
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- Custom Antibody ServicesOriGene Antibodies for CFAP221
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- Novus Biologicals
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- ViGene Biosciences adenoviral particle packaged cDNA for CFAP221 gene
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- Horizon Cell Lines for CFAP221
- Cyagen custom Knockout/knockin (KOKI) mouse models for CFAP221
- VectorBuilder custom plasmid, inducible vectors for CFAP221
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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
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) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
- (102) PaxDb
- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
- (108) SwitchGear Genomics
- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
- (112) GeneTex
- (113) Taconic Biosciences
- (114) GTEx
- (115) ProteomicsDB
- (116) SCBT
- (117) DGIdb
- (118) ClinicalTrials
- (119) FDA Approved Drugs
- (120) RVIS
- (121) SIGNOR
- (122) diseasecard
- (123) NIH Rare Diseases
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- (125) UMLS
- (126) GTR
- (127) Disease Ontology
- (128) Genetics Home Reference
- (129) MeSH
- (130) MedlinePlus
- (131) CDC
- (132) NINDS
- (133) NCBI Bookshelf
- (134) ClinVar
- (135) Gene Damage Index
- (136) ViGene Biosciences
- (137) HPO
- (138) UDN
- (139) VISTA
- (140) FANTOM5
- (141) ENCODE
- (142) ProSci
- (143) Horizon
- (144) NURSA
- (145) IID
- (146) Cyagen
- (147) VectorBuilder
- (148) SNPedia
- (149) BRCA Exchange
- (150) St John's Lab
- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer