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CFAP299 cilia and flagella associated protein 299 [ Homo sapiens (human) ]

Gene ID: 255119, updated on 27-Nov-2024

Summary

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Official Symbol
CFAP299provided by HGNC
Official Full Name
cilia and flagella associated protein 299provided by HGNC
Primary source
HGNC:HGNC:28554
See related
Ensembl:ENSG00000197826 AllianceGenome:HGNC:28554
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
C4orf22
Summary
Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Restricted expression toward testis (RPKM 1.7) See more
Orthologs
mouse all
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Genomic context

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See CFAP299 in Genome Data Viewer
Location:
4q21.21
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (80321265..80963750)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (83651649..84293773)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (81256884..81884904)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124900725 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:81184495-81184996 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:81187513-81188044 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:81189787-81190357 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21654 Neighboring gene fibroblast growth factor 5 Neighboring gene mitochondrial ribosomal protein S25 pseudogene 1 Neighboring gene zinc finger protein 341 pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:81361128-81361910 Neighboring gene uncharacterized LOC105377305 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:81416935-81417840 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:81480892-81481084 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21655 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21656 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15523 Neighboring gene bone morphogenetic protein 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:82074618-82075132 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:82075133-82075646 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:82085265-82086464 Neighboring gene protein kinase cGMP-dependent 2 Neighboring gene PRKG2 antisense RNA 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Cloning of a new testis-enriched gene C4orf22 and its role in cell cycle and apoptosis in mouse spermatogenic cells. Li H, et al. Mol Biol Rep, 2019 Apr. PMID 30820741
  2. BRCA2 mediates centrosome cohesion via an interaction with cytoplasmic dynein. Malik S, et al. Cell Cycle, 2016 Aug 17. PMID 27433848, Free PMC Article
  3. A functionally defined high-density NRF2 interactome reveals new conditional regulators of ARE transactivation. Poh J, et al. Redox Biol, 2020 Oct. PMID 32911434, Free PMC Article
  4. Molecular genetics of successful smoking cessation: convergent genome-wide association study results. Uhl GR, et al. Arch Gen Psychiatry, 2008 Jun. PMID 18519826, Free PMC Article
  5. Bcl2-associated athanogene 3 interactome analysis reveals a new role in modulating proteasome activity. Chen Y, et al. Mol Cell Proteomics, 2013 Oct. PMID 23824909, Free PMC Article

See all (10) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. Clinical trial and genome-wide association study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
    Title: Molecular genetics of successful smoking cessation: convergent genome-wide association study results.
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
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog

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

Homology

Clone Names

  • MGC35043

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Component Evidence Code Pubs
located_in cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in nucleus IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
cilia- and flagella-associated protein 299
Names
uncharacterized protein C4orf22

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)

  1. NM_001206997.2 → NP_001193926.1  cilia- and flagella-associated protein 299 isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AC093876, AI650567, AY349359, BC034296, DB522959
    Consensus CDS
    CCDS56336.1
    UniProtKB/Swiss-Prot
    Q6V702
    Related
    ENSP00000425786.1, ENST00000508675.1
    Conserved Domains (1) summary
    pfam14713
    Location:13 → 249
    DUF4464; Domain of unknown function (DUF4464)

  2. NM_152770.3 → NP_689983.2  cilia- and flagella-associated protein 299 isoform 2

    See identical proteins and their annotated locations for NP_689983.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the CDS, compared to variant 1. The resulting isoform (2) lacks an internal segment, compared to isoform 1.
    Source sequence(s)
    AI650567, BC034296, DB522959
    Consensus CDS
    CCDS3587.1
    UniProtKB/Swiss-Prot
    E7EQ13, Q6V702, Q6ZQY4, Q8N4G9
    Related
    ENSP00000350818.3, ENST00000358105.8
    Conserved Domains (1) summary
    pfam14713
    Location:13 → 232
    DUF4464; Domain of unknown function (DUF4464)

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

  1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    80321265..80963750
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017007976.2 → XP_016863465.1  cilia- and flagella-associated protein 299 isoform X3

    Conserved Domains (1) summary
    pfam14713
    Location:31 → 129
    DUF4464; Domain of unknown function (DUF4464)

  2. XM_047449975.1 → XP_047305931.1  cilia- and flagella-associated protein 299 isoform X1

  3. XM_017007977.2 → XP_016863466.1  cilia- and flagella-associated protein 299 isoform X5

    Conserved Domains (1) summary
    pfam14713
    Location:31 → 131
    DUF4464; Domain of unknown function (DUF4464)

  4. XM_011531816.3 → XP_011530118.2  cilia- and flagella-associated protein 299 isoform X6

    Conserved Domains (1) summary
    pfam14713
    Location:31 → 129
    DUF4464; Domain of unknown function (DUF4464)

  5. XM_047449977.1 → XP_047305933.1  cilia- and flagella-associated protein 299 isoform X4

  6. XM_047449976.1 → XP_047305932.1  cilia- and flagella-associated protein 299 isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    83651649..84293773
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054349530.1 → XP_054205505.1  cilia- and flagella-associated protein 299 isoform X3

  2. XM_054349529.1 → XP_054205504.1  cilia- and flagella-associated protein 299 isoform X1

  3. XM_054349532.1 → XP_054205507.1  cilia- and flagella-associated protein 299 isoform X5

  4. XM_054349533.1 → XP_054205508.1  cilia- and flagella-associated protein 299 isoform X6

  5. XM_054349531.1 → XP_054205506.1  cilia- and flagella-associated protein 299 isoform X4

  6. XM_054349534.1 → XP_054205509.1  cilia- and flagella-associated protein 299 isoform X7

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6V702.4 GenPept UniProtKB/Swiss-Prot:Q6V702

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