CFAP20 cilia and flagella associated protein 20 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CFAP20provided by HGNC
Official Full Name: cilia and flagella associated protein 20provided by HGNC
Primary source: HGNC:HGNC:29523
See related: Ensembl:ENSG00000070761 MIM:617906; AllianceGenome:HGNC:29523
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: GTL3; BUG22; EVORF; fSAP23; C16orf80
Summary: Enables RNA binding activity. Involved in several processes, including positive regulation of feeding behavior; protein polyglutamylation; and regulation of cilium beat frequency involved in ciliary motility. Located in microtubule cytoskeleton and nucleoplasm. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in testis (RPKM 19.9), placenta (RPKM 16.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16q21

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (58113592..58129381, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (63908917..63925035, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (58147496..58163285, complement)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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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

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

D16S2775 (e-PCR)
- UniSTS:153345

SHGC-61162 (e-PCR)
- UniSTS:74029

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cilium assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in flagellated sperm motility	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of cell motility	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of cell motility	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of feeding behavior	IDA Inferred from Direct Assay more info	PubMed
involved_in protein polyglutamylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of cilium beat frequency involved in ciliary motility	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of cilium beat frequency involved in ciliary motility	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in axonemal B tubule inner sheath	IEA Inferred from Electronic Annotation more info
located_in axonemal microtubule	IDA Inferred from Direct Assay more info	PubMed
located_in axonemal microtubule	ISS Inferred from Sequence or Structural Similarity more info
located_in centriole	IDA Inferred from Direct Assay more info	PubMed
is_active_in ciliary basal body	IBA Inferred from Biological aspect of Ancestor more info
located_in ciliary basal body	IDA Inferred from Direct Assay more info	PubMed
located_in cilium	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
is_active_in motile cilium	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in sperm flagellum	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: cilia- and flagella-associated protein 20

Names: UPF0468 protein C16orf80; basal body up-regulated protein 22; flagellar associated protein 20 homolog; functional spliceosome-associated protein 23; gene trap locus 3; transcription factor IIB

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.