CFAP221 cilia and flagella associated protein 221 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CFAP221provided by HGNC
Official Full Name: cilia and flagella associated protein 221provided by HGNC
Primary source: HGNC:HGNC:33720
See related: Ensembl:ENSG00000163075 MIM:618704; AllianceGenome:HGNC:33720
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PCDP1; FAP221
Summary: Predicted to enable calmodulin binding activity. Predicted to be involved in motile cilium assembly. Predicted to act upstream of or within epithelial cilium movement involved in extracellular fluid movement; establishment of localization in cell; and sperm flagellum assembly. Predicted to be located in axoneme and manchette. Predicted to be active in 9+2 motile cilium. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in testis (RPKM 7.5), lung (RPKM 1.6) and 9 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2q14.2

Exon count:: 31

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (119544449..119660323)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (119977951..120093833)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (120302025..120414237)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

These results show that genetic variants in CFAP221 cause Pprimary ciliary dyskinesia (PCD) and that CFAP221 should be considered a candidate gene in cases where PCD is suspected but cilia structure and beat frequency appear normal.
Title: Identification of genetic variants in CFAP221 as a cause of primary ciliary dyskinesia.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
plays an important role in ciliary and flagellar biogenesis and motility sperm flagella and the cilia of respiratory epithelial cells and brain ependymal cells in both mice and humans
Title: Primary ciliary dyskinesia in mice lacking the novel ciliary protein Pcdp1.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genetic susceptibility for chronic bronchitis in chronic obstructive pulmonary disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-111704 (e-PCR)
- UniSTS:168495

WI-17117 (e-PCR)
- UniSTS:4778

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calmodulin binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in cerebrospinal fluid circulation	IEA Inferred from Electronic Annotation more info
involved_in cilium assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in establishment of localization in cell	IEA Inferred from Electronic Annotation more info
involved_in motile cilium assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in mucociliary clearance	IEA Inferred from Electronic Annotation more info
involved_in sperm flagellum assembly	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in 9+2 motile cilium	IBA Inferred from Biological aspect of Ancestor more info
located_in axoneme	ISS Inferred from Sequence or Structural Similarity more info
located_in cilium	ISS Inferred from Sequence or Structural Similarity more info
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in extracellular region	IEA Inferred from Electronic Annotation more info
located_in manchette	ISS Inferred from Sequence or Structural Similarity more info
located_in sperm flagellum	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: cilia- and flagella-associated protein 221

Names: flagellar associated protein 221 homolog; primary ciliary dyskinesia 1 homolog; primary ciliary dyskinesia protein 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001271049.2 → NP_001257978.2 cilia- and flagella-associated protein 221

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the supported protein. This variant lacks full-length human transcript support; its exon combination is inferred from orthologous transcript alignments.

Source sequence(s)

AC013275, AC069154, AC104817

Consensus CDS

CCDS33282.2

UniProtKB/Swiss-Prot

B4DEK0, B4E2T5, Q4G0U5

Related

ENSP00000393222.2, ENST00000413369.8

RNA

NR_073132.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (2) contains an additional exon in the central region, compared to variant 1. This variant is represented as non-coding because use of the supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC013275, AC069154, AC104817

Related

ENST00000295220.10
NR_073133.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (3) lacks an alternate internal exon in the 5' region, and lacks several 3' exons but includes an alternate 3' exon, compared to variant 1. This variant is represented as non-coding because use of the supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC013275, AC069154, AC104817

Related

ENST00000413057.6

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

119544449..119660323

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006712353.4 → XP_006712416.1 cilia- and flagella-associated protein 221 isoform X2

See identical proteins and their annotated locations for XP_006712416.1

UniProtKB/Swiss-Prot

B4DEK0, B4E2T5, Q4G0U5
XM_017003551.2 → XP_016859040.1 cilia- and flagella-associated protein 221 isoform X1
XM_017003550.2 → XP_016859039.1 cilia- and flagella-associated protein 221 isoform X1
XM_017003558.2 → XP_016859047.1 cilia- and flagella-associated protein 221 isoform X4
XM_047443619.1 → XP_047299575.1 cilia- and flagella-associated protein 221 isoform X6
XM_017003552.2 → XP_016859041.1 cilia- and flagella-associated protein 221 isoform X1
XM_017003553.3 → XP_016859042.1 cilia- and flagella-associated protein 221 isoform X1
XM_047443618.1 → XP_047299574.1 cilia- and flagella-associated protein 221 isoform X3
XM_017003559.2 → XP_016859048.1 cilia- and flagella-associated protein 221 isoform X5

RNA

XR_922883.4 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

NC_060926.1 Alternate T2T-CHM13v2.0

Range

119977951..120093833

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054340928.1 → XP_054196903.1 cilia- and flagella-associated protein 221 isoform X2
XM_054340924.1 → XP_054196899.1 cilia- and flagella-associated protein 221 isoform X1
XM_054340930.1 → XP_054196905.1 cilia- and flagella-associated protein 221 isoform X4
XM_054340932.1 → XP_054196907.1 cilia- and flagella-associated protein 221 isoform X6
XM_054340925.1 → XP_054196900.1 cilia- and flagella-associated protein 221 isoform X1
XM_054340926.1 → XP_054196901.1 cilia- and flagella-associated protein 221 isoform X1
XM_054340927.1 → XP_054196902.1 cilia- and flagella-associated protein 221 isoform X1
XM_054340929.1 → XP_054196904.1 cilia- and flagella-associated protein 221 isoform X3
XM_054340931.1 → XP_054196906.1 cilia- and flagella-associated protein 221 isoform X5

RNA

XR_008486300.1 RNA Sequence
XR_008486301.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001029996.3: Suppressed sequence

Description

NM_001029996.3: This RefSeq was permanently suppressed because it would be a nonsense-mediated mRNA decay (NMD) candidate if the expected start codon was used.