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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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