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    CFAP69 cilia and flagella associated protein 69 [ Homo sapiens (human) ]

    Gene ID: 79846, updated on 5-Mar-2024

    Summary

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    Official Symbol
    CFAP69provided by HGNC
    Official Full Name
    cilia and flagella associated protein 69provided by HGNC
    Primary source
    HGNC:HGNC:26107
    See related
    Ensembl:ENSG00000105792 MIM:617949; AllianceGenome:HGNC:26107
    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
    FAP69; SPGF24; C7orf63
    Summary
    Acts upstream of or within sperm axoneme assembly. Located in cytoplasm and sperm midpiece. Implicated in spermatogenic failure 24. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in prostate (RPKM 3.6), testis (RPKM 1.8) and 20 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    7q21.13
    Exon count:
    33
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (90245174..90323723)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (91493482..91569216)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (89874488..89940377)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene STEAP2 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26241 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26242 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26243 Neighboring gene NANOG hESC enhancer GRCh37_chr7:89809546-89810047 Neighboring gene STEAP family member 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18357 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:89863874-89864079 Neighboring gene uncharacterized LOC107986819 Neighboring gene NANOG hESC enhancer GRCh37_chr7:89875353-89875865 Neighboring gene STEAP2 metalloreductase Neighboring gene uncharacterized LOC107986715 Neighboring gene uncharacterized LOC101927446 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26244 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26245 Neighboring gene family with sequence similarity 237 member B Neighboring gene GTP binding protein 10

    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. Novel homozygous CFAP69 mutations in humans and mice cause severe asthenoteratospermia with multiple morphological abnormalities of the sperm flagella. He X, et al. J Med Genet, 2019 Feb. PMID 30415212
    2. DNA methylation profiles in diffuse large B-cell lymphoma and their relationship to gene expression status. Pike BL, et al. Leukemia, 2008 May. PMID 18288132, Free PMC Article
    3. Absence of CFAP69 Causes Male Infertility due to Multiple Morphological Abnormalities of the Flagella in Human and Mouse. Dong FN, et al. Am J Hum Genet, 2018 Apr 5. PMID 29606301, Free PMC Article
    4. Genome-wide CRISPR screen identifies HNRNPL as a prostate cancer dependency regulating RNA splicing. Fei T, et al. Proc Natl Acad Sci U S A, 2017 Jun 27. PMID 28611215, Free PMC Article
    5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. Rose JE, et al. Mol Med, 2010 Jul-Aug. PMID 20379614, Free PMC Article

    See all (11) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A novel variant in CFAP69 causes asthenoteratozoospermia with treatable ART outcomes and a literature review.
      Title: A novel variant in CFAP69 causes asthenoteratozoospermia with treatable ART outcomes and a literature review.
    2. Homozygous loss-of-function mutations of CFAP69 are associated with abnormalities of the sperm flagella and severe asthenoteratospermia.
      Title: Novel homozygous CFAP69 mutations in humans and mice cause severe asthenoteratospermia with multiple morphological abnormalities of the sperm flagella.
    3. CFAP69 is necessary for flagellum assembly/stability and that in both humans and mice
      Title: Absence of CFAP69 Causes Male Infertility due to Multiple Morphological Abnormalities of the Flagella in Human and Mouse.
    4. 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.
    5. A CpG island proximal to FLJ21062 is frequently methylated in diffuse large B-cell lymphoma (DLBCL).
      Title: DNA methylation profiles in diffuse large B-cell lymphoma and their relationship to gene expression status.
    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

    Associated conditions

    Description Tests
    Spermatogenic failure 24
    MedGen: C4693751 OMIM: 617959 GeneReviews: Not available
    		Compare labs

    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

    • FLJ21062, AC002064.5

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    acts_upstream_of_or_within flagellated sperm motility IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in olfactory behavior IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in olfactory behavior ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of fertilization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of flagellated sperm motility IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of flagellated sperm motility ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in response to odorant IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in response to odorant ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in sensory perception of smell IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within sperm axoneme assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in non-motile cilium IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in non-motile cilium ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in sperm midpiece IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in sperm midpiece IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    cilia- and flagella-associated protein 69

    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_001039706.3 → NP_001034795.2  cilia- and flagella-associated protein 69 isoform 1

      See identical proteins and their annotated locations for NP_001034795.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      BC140742, BC141834, BF112239, DC402406
      Consensus CDS
      CCDS43613.2
      UniProtKB/Swiss-Prot
      A3KMP9, A5D8W1, B4DYW6, B4DZP7, B9EIM7, Q6V705, Q8IY89, Q9H7C2
      Related
      ENSP00000373948.4, ENST00000389297.8

    2. NM_001160138.2 → NP_001153610.1  cilia- and flagella-associated protein 69 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the central coding region, compared to variant 1, resulting in an isoform (2) that is shorter than isoform 1.
      Source sequence(s)
      AK302636, BC140742, BC141834, BF112239, DC402406
      Consensus CDS
      CCDS55122.1
      UniProtKB/Swiss-Prot
      A5D8W1
      Related
      ENSP00000419549.1, ENST00000497910.5

    3. NM_001363438.1 → NP_001350367.1  cilia- and flagella-associated protein 69 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC002064, AK302636, BC140742, BC141834, BF112239, BU627350, DC402406

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      90245174..90323723
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011516577.3 → XP_011514879.1  cilia- and flagella-associated protein 69 isoform X1

    2. XM_017012625.2 → XP_016868114.1  cilia- and flagella-associated protein 69 isoform X4

    3. XM_017012628.2 → XP_016868117.1  cilia- and flagella-associated protein 69 isoform X5

    4. XM_017012632.2 → XP_016868121.1  cilia- and flagella-associated protein 69 isoform X10

    5. XM_017012624.2 → XP_016868113.1  cilia- and flagella-associated protein 69 isoform X3

    6. XM_017012629.2 → XP_016868118.1  cilia- and flagella-associated protein 69 isoform X6

    7. XM_047420848.1 → XP_047276804.1  cilia- and flagella-associated protein 69 isoform X11

    8. XM_047420852.1 → XP_047276808.1  cilia- and flagella-associated protein 69 isoform X15

    9. XM_011516578.3 → XP_011514880.1  cilia- and flagella-associated protein 69 isoform X2

    10. XM_047420846.1 → XP_047276802.1  cilia- and flagella-associated protein 69 isoform X9

    11. XM_047420851.1 → XP_047276807.1  cilia- and flagella-associated protein 69 isoform X14

    12. XM_047420845.1 → XP_047276801.1  cilia- and flagella-associated protein 69 isoform X7

    13. XM_047420849.1 → XP_047276805.1  cilia- and flagella-associated protein 69 isoform X12

    14. XM_047420854.1 → XP_047276810.1  cilia- and flagella-associated protein 69 isoform X17

    15. XM_047420850.1 → XP_047276806.1  cilia- and flagella-associated protein 69 isoform X13

    16. XM_047420853.1 → XP_047276809.1  cilia- and flagella-associated protein 69 isoform X16

    17. XM_017012641.2 → XP_016868130.1  cilia- and flagella-associated protein 69 isoform X19

    18. XM_005250600.4 → XP_005250657.1  cilia- and flagella-associated protein 69 isoform X21

    19. XM_011516579.2 → XP_011514881.1  cilia- and flagella-associated protein 69 isoform X20

    20. XM_017012642.2 → XP_016868131.1  cilia- and flagella-associated protein 69 isoform X22

    21. XM_017012631.2 → XP_016868120.1  cilia- and flagella-associated protein 69 isoform X8

    22. XM_047420847.1 → XP_047276803.1  cilia- and flagella-associated protein 69 isoform X11

    23. XM_017012635.3 → XP_016868124.1  cilia- and flagella-associated protein 69 isoform X11

    24. XM_017012638.2 → XP_016868127.1  cilia- and flagella-associated protein 69 isoform X15

    25. XM_017012640.2 → XP_016868129.1  cilia- and flagella-associated protein 69 isoform X18

    RNA

    1. XR_927530.2 RNA Sequence

    2. XR_927531.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      91493482..91569216
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054359022.1 → XP_054214997.1  cilia- and flagella-associated protein 69 isoform X1

    2. XM_054359025.1 → XP_054215000.1  cilia- and flagella-associated protein 69 isoform X4

    3. XM_054359026.1 → XP_054215001.1  cilia- and flagella-associated protein 69 isoform X5

    4. XM_054359031.1 → XP_054215006.1  cilia- and flagella-associated protein 69 isoform X10

    5. XM_054359024.1 → XP_054214999.1  cilia- and flagella-associated protein 69 isoform X3

    6. XM_054359027.1 → XP_054215002.1  cilia- and flagella-associated protein 69 isoform X6

    7. XM_054359034.1 → XP_054215009.1  cilia- and flagella-associated protein 69 isoform X11

    8. XM_054359038.1 → XP_054215013.1  cilia- and flagella-associated protein 69 isoform X15

    9. XM_054359023.1 → XP_054214998.1  cilia- and flagella-associated protein 69 isoform X2

    10. XM_054359030.1 → XP_054215005.1  cilia- and flagella-associated protein 69 isoform X9

    11. XM_054359037.1 → XP_054215012.1  cilia- and flagella-associated protein 69 isoform X14

    12. XM_054359028.1 → XP_054215003.1  cilia- and flagella-associated protein 69 isoform X7

    13. XM_054359035.1 → XP_054215010.1  cilia- and flagella-associated protein 69 isoform X12

    14. XM_054359041.1 → XP_054215016.1  cilia- and flagella-associated protein 69 isoform X17

    15. XM_054359036.1 → XP_054215011.1  cilia- and flagella-associated protein 69 isoform X13

    16. XM_054359040.1 → XP_054215015.1  cilia- and flagella-associated protein 69 isoform X16

    17. XM_054359043.1 → XP_054215018.1  cilia- and flagella-associated protein 69 isoform X19

    18. XM_054359045.1 → XP_054215020.1  cilia- and flagella-associated protein 69 isoform X21

    19. XM_054359044.1 → XP_054215019.1  cilia- and flagella-associated protein 69 isoform X20

    20. XM_054359046.1 → XP_054215021.1  cilia- and flagella-associated protein 69 isoform X22

    21. XM_054359029.1 → XP_054215004.1  cilia- and flagella-associated protein 69 isoform X8

    22. XM_054359032.1 → XP_054215007.1  cilia- and flagella-associated protein 69 isoform X11

    23. XM_054359033.1 → XP_054215008.1  cilia- and flagella-associated protein 69 isoform X11

    24. XM_054359039.1 → XP_054215014.1  cilia- and flagella-associated protein 69 isoform X15

    25. XM_054359042.1 → XP_054215017.1  cilia- and flagella-associated protein 69 isoform X18

    RNA

    1. XR_008487760.1 RNA Sequence

    2. XR_008487759.1 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_024788.2: Suppressed sequence

      Description
      NM_024788.2: This RefSeq was permanently suppressed because currently there is support for the transcript but not for the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A5D8W1.3 GenPept UniProtKB/Swiss-Prot:A5D8W1

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