U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

CFAP65 cilia and flagella associated protein 65 [ Homo sapiens (human) ]

Gene ID: 255101, updated on 5-Mar-2024

Summary

Go to the top of the page Help
Official Symbol
CFAP65provided by HGNC
Official Full Name
cilia and flagella associated protein 65provided by HGNC
Primary source
HGNC:HGNC:25325
See related
Ensembl:ENSG00000181378 MIM:614270; AllianceGenome:HGNC:25325
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SPGF40; CCDC108
Summary
The protein encoded by this gene has putative coiled-coil domains and may be a transmembrane protein. The chicken ortholog of this gene is involved in the Rose-comb mutation, which is a large chromosome inversion, resulting in altered comb morphology and defects in sperm motility. [provided by RefSeq, Aug 2016]
Expression
Biased expression in testis (RPKM 3.3) and lung (RPKM 1.0) See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
2q35
Exon count:
36
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (219002846..219041551, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (219491221..219529920, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (219867568..219906273, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene crystallin beta A2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12339 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:219864283-219865266 Neighboring gene Sharpr-MPRA regulatory region 4963 Neighboring gene uncharacterized LOC100129175 Neighboring gene microRNA 375 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:219889982-219890482 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17138 Neighboring gene uncharacterized LOC107985987 Neighboring gene Indian hedgehog signaling molecule Neighboring gene microRNA 3131

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

Related articles in PubMed

  1. Male infertility-associated Ccdc108 regulates multiciliogenesis via the intraflagellar transport machinery. Zhao H, et al. EMBO Rep, 2022 Apr 5. PMID 35201641, Free PMC Article
  2. Biallelic mutations in CFAP65 lead to severe asthenoteratospermia due to acrosome hypoplasia and flagellum malformations. Wang W, et al. J Med Genet, 2019 Nov. PMID 31413122, Free PMC Article
  3. Biallelic mutations in CFAP65 cause male infertility with multiple morphological abnormalities of the sperm flagella in humans and mice. Li W, et al. J Med Genet, 2020 Feb. PMID 31501240
  4. Deleterious variants in X-linked CFAP47 induce asthenoteratozoospermia and primary male infertility. Liu C, et al. Am J Hum Genet, 2021 Feb 4. PMID 33472045, Free PMC Article
  5. The Rose-comb mutation in chickens constitutes a structural rearrangement causing both altered comb morphology and defective sperm motility. Imsland F, et al. PLoS Genet, 2012 Jun. PMID 22761584, Free PMC Article

See all (13) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Male infertility-associated Ccdc108 regulates multiciliogenesis via the intraflagellar transport machinery.
    Title: Male infertility-associated Ccdc108 regulates multiciliogenesis via the intraflagellar transport machinery.
  2. Biallelic mutations in CFAP65 cause male infertility with multiple morphological abnormalities of the sperm flagella in humans and mice.
    Title: Biallelic mutations in CFAP65 cause male infertility with multiple morphological abnormalities of the sperm flagella in humans and mice.
  3. CFAP65 mutations may cause spermatozoa to be completely immotile.
    Title: Biallelic mutations in CFAP65 lead to severe asthenoteratospermia due to acrosome hypoplasia and flagellum malformations.
Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

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 40
MedGen: C5231451 OMIM: 618664 GeneReviews: Not available
Compare labs

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Clone Names

  • MGC35338, DKFZp434O0527

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA binding HDA PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in flagellated sperm motility ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in sperm axoneme assembly IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in sperm axoneme assembly ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
located_in acrosomal membrane IEA
Inferred from Electronic Annotation
more info
  
located_in acrosomal vesicle IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
  
is_active_in sperm flagellum IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in sperm flagellum IDA
Inferred from Direct Assay
more info
 PubMed 
located_in sperm midpiece IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

Go to the top of the page Help
Preferred Names
cilia- and flagella-associated protein 65
Names
coiled-coil domain containing 108

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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.

Genomic

  1. NG_051336.1 RefSeqGene

    Range
    5036..43706
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001278295.1 → NP_001265224.1  cilia- and flagella-associated protein 65 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains multiple differences in the UTRs and coding region, including the lack of multiple 3' coding exons, compared to variant 1. It initiates translation at an alternate upstream start codon. The encoded isoform (3) is shorter than isoform 1 and has distinct N- and C-termini.
    Source sequence(s)
    AK302688, BC047637, DB070903, HY027454
    Consensus CDS
    CCDS63126.1
    UniProtKB/TrEMBL
    B4DZ05
    Related
    ENSP00000386945.3, ENST00000409865.7
    Conserved Domains (1) summary
    cl13764
    Location:354 → 420
    ASH; Abnormal spindle-like microcephaly-assoc'd, ASPM-SPD-2-Hydin

  2. NM_001278296.2 → NP_001265225.1  cilia- and flagella-associated protein 65 isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) contains multiple differences in the UTRs and coding region, including the lack of multiple 3' coding exons, compared to variant 1. It initiates translation at a downstream in-frame start codon. The encoded isoform (4) is shorter than isoform 1 and has a shorter N-terminus and a distinct C-terminus.
    Source sequence(s)
    AK302678, BC047637, DB070903
    Consensus CDS
    CCDS63125.1
    UniProtKB/TrEMBL
    B4DYZ8
    Related
    ENSP00000386258.1, ENST00000410037.5
    Conserved Domains (1) summary
    cl13764
    Location:300 → 366
    ASH; Abnormal spindle-like microcephaly-assoc'd, ASPM-SPD-2-Hydin

  3. NM_152389.4 → NP_689602.2  cilia- and flagella-associated protein 65 isoform 2

    See identical proteins and their annotated locations for NP_689602.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains multiple differences in the UTRs and coding region, including the lack of multiple 3' coding exons, compared to variant 1. It initiates translation at a downstream in-frame start codon. The encoded isoform (2) is shorter than isoform 1 and has a shorter N-terminus and a distinct C-terminus.
    Source sequence(s)
    AC097468, AK302678, BC031585, DB070903
    Consensus CDS
    CCDS2431.2
    UniProtKB/TrEMBL
    Q4ZFW9
    Related
    ENSP00000295729.2, ENST00000295729.6

  4. NM_194302.4 → NP_919278.2  cilia- and flagella-associated protein 65 isoform 1

    See identical proteins and their annotated locations for NP_919278.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AA503417, AK127189, AK302688, BC130281, DB070903
    Consensus CDS
    CCDS2430.2
    UniProtKB/Swiss-Prot
    A2BDD8, E9PCR1, E9PG25, E9PG72, Q6ZSR8, Q6ZU64, Q8N0T4, Q8NDJ3
    Related
    ENSP00000340776.5, ENST00000341552.10
    Conserved Domains (1) summary
    cl13764
    Location:365 → 431
    ASH; Abnormal spindle-like microcephaly-assoc'd, ASPM-SPD-2-Hydin

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_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    219002846..219041551 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011510915.2 → XP_011509217.1  cilia- and flagella-associated protein 65 isoform X5

    See identical proteins and their annotated locations for XP_011509217.1

    Conserved Domains (1) summary
    cl13764
    Location:300 → 366
    ASH; Abnormal spindle-like microcephaly-assoc'd, ASPM-SPD-2-Hydin

  2. XM_017003753.2 → XP_016859242.1  cilia- and flagella-associated protein 65 isoform X3

  3. XM_011510908.2 → XP_011509210.1  cilia- and flagella-associated protein 65 isoform X2

    See identical proteins and their annotated locations for XP_011509210.1

    Conserved Domains (1) summary
    cl13764
    Location:365 → 431
    ASH; Abnormal spindle-like microcephaly-assoc'd, ASPM-SPD-2-Hydin

  4. XM_047443873.1 → XP_047299829.1  cilia- and flagella-associated protein 65 isoform X2

  5. XM_011510904.3 → XP_011509206.1  cilia- and flagella-associated protein 65 isoform X1

    See identical proteins and their annotated locations for XP_011509206.1

    Conserved Domains (1) summary
    cl13764
    Location:366 → 432
    ASH; Abnormal spindle-like microcephaly-assoc'd, ASPM-SPD-2-Hydin

  6. XM_011510914.2 → XP_011509216.1  cilia- and flagella-associated protein 65 isoform X5

    See identical proteins and their annotated locations for XP_011509216.1

    Conserved Domains (1) summary
    cl13764
    Location:300 → 366
    ASH; Abnormal spindle-like microcephaly-assoc'd, ASPM-SPD-2-Hydin

  7. XM_011510911.2 → XP_011509213.1  cilia- and flagella-associated protein 65 isoform X5

    See identical proteins and their annotated locations for XP_011509213.1

    Conserved Domains (1) summary
    cl13764
    Location:300 → 366
    ASH; Abnormal spindle-like microcephaly-assoc'd, ASPM-SPD-2-Hydin

  8. XM_011510909.2 → XP_011509211.1  cilia- and flagella-associated protein 65 isoform X2

    See identical proteins and their annotated locations for XP_011509211.1

    Conserved Domains (1) summary
    cl13764
    Location:365 → 431
    ASH; Abnormal spindle-like microcephaly-assoc'd, ASPM-SPD-2-Hydin

  9. XM_017003752.2 → XP_016859241.1  cilia- and flagella-associated protein 65 isoform X2

    Conserved Domains (1) summary
    cl13764
    Location:365 → 431
    ASH; Abnormal spindle-like microcephaly-assoc'd, ASPM-SPD-2-Hydin

  10. XM_017003754.2 → XP_016859243.1  cilia- and flagella-associated protein 65 isoform X5

    Conserved Domains (1) summary
    cl13764
    Location:300 → 366
    ASH; Abnormal spindle-like microcephaly-assoc'd, ASPM-SPD-2-Hydin

  11. XM_011510912.2 → XP_011509214.1  cilia- and flagella-associated protein 65 isoform X5

    See identical proteins and their annotated locations for XP_011509214.1

    Conserved Domains (1) summary
    cl13764
    Location:300 → 366
    ASH; Abnormal spindle-like microcephaly-assoc'd, ASPM-SPD-2-Hydin

  12. XM_011510916.2 → XP_011509218.1  cilia- and flagella-associated protein 65 isoform X6

    Conserved Domains (1) summary
    cl13764
    Location:273 → 339
    ASH; Abnormal spindle-like microcephaly-assoc'd, ASPM-SPD-2-Hydin

  13. XM_011510910.2 → XP_011509212.1  cilia- and flagella-associated protein 65 isoform X4

    Conserved Domains (1) summary
    cl13764
    Location:366 → 432
    ASH; Abnormal spindle-like microcephaly-assoc'd, ASPM-SPD-2-Hydin

  14. XM_011510903.2 → XP_011509205.1  cilia- and flagella-associated protein 65 isoform X1

    See identical proteins and their annotated locations for XP_011509205.1

    Conserved Domains (1) summary
    cl13764
    Location:366 → 432
    ASH; Abnormal spindle-like microcephaly-assoc'd, ASPM-SPD-2-Hydin

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    219491221..219529920 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054341286.1 → XP_054197261.1  cilia- and flagella-associated protein 65 isoform X7

  2. XM_054341280.1 → XP_054197255.1  cilia- and flagella-associated protein 65 isoform X3

  3. XM_054341279.1 → XP_054197254.1  cilia- and flagella-associated protein 65 isoform X2

  4. XM_054341276.1 → XP_054197251.1  cilia- and flagella-associated protein 65 isoform X2

  5. XM_054341275.1 → XP_054197250.1  cilia- and flagella-associated protein 65 isoform X1

  6. XM_054341285.1 → XP_054197260.1  cilia- and flagella-associated protein 65 isoform X7

  7. XM_054341283.1 → XP_054197258.1  cilia- and flagella-associated protein 65 isoform X7

  8. XM_054341277.1 → XP_054197252.1  cilia- and flagella-associated protein 65 isoform X2

  9. XM_054341278.1 → XP_054197253.1  cilia- and flagella-associated protein 65 isoform X2

  10. XM_054341284.1 → XP_054197259.1  cilia- and flagella-associated protein 65 isoform X7

  11. XM_054341282.1 → XP_054197257.1  cilia- and flagella-associated protein 65 isoform X7

  12. XM_054341287.1 → XP_054197262.1  cilia- and flagella-associated protein 65 isoform X6

  13. XM_054341281.1 → XP_054197256.1  cilia- and flagella-associated protein 65 isoform X4

  14. XM_054341274.1 → XP_054197249.1  cilia- and flagella-associated protein 65 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6ZU64.2 GenPept UniProtKB/Swiss-Prot:Q6ZU64

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous