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

    Gene ID: 255119, updated on 5-Mar-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, Apr 2022]
    Expression
    Restricted expression toward testis (RPKM 1.7) See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    4q21.21
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (80321265..80963750)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (83651649..84293773)
    105.20220307 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)

    Genotypes

    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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    NEW Try the new Transcript table

    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_2023_10

    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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