Seroatlas · Human Serome Atlas

CCDC65

Dynein regulatory complex subunit 2

Also known as: CFAP250, CILD27, DRC2, DRC2_HUMAN, FAP250, FLJ35732, NYD-SP28

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q8IXS2
Gene: CCDC65
Ensembl: ENSG00000139537
Chromosome: 12
Canonical length: 484 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Vesicles,Primary cilium transition zone,Centriolar satellite,Cytosol,Mid piece,Principal piece,Annulus

OverviewNCBI Gene

This gene encodes a sperm tail protein that is highly expressed in adult testis, spermatocytes and spermatids. The protein plays a critical role in the assembly of the nexin-dynein regulatory complex. Mutations in this gene result in primary ciliary dyskinesia. [provided by RefSeq, Nov 2013]

Canonical amino-acid sequenceUniProt

484 residues, UniProt reviewed canonical sequence.

>Q8IXS2|CCDC65
     1  MPKKEKMAKT PLSDEKQLLL FQQKLLAEEE MAKKKERLLS QFLKDKLAKE EHNSALNLNK
    61  INTQWRTVLR EVKTRELHKD IEILSQTFER VVDCKDNVIK SLAKDLSEAE EQYAHALRSH
   121  LHNVDQLLAL QRHRLSLLEE SYNMELEALT KEFETERKTI IDQHEKEIHY LQDIFMAMEQ
   181  NYIDSEYESK LEFQSMWNDL KNMNLEEKHF LRLHLENRVE DLWRKFQDVL KNYTDATEDR
   241  KAAFETLQVK DEKSSKEIEV QMKKIQKLQD AITISKGKIM IHSRESEDEN RYIRNDKELV
   301  LVQLRKLKAQ RTQARAASQK NLVRLTLESN ATLKALRKIV DKGEKILKLA EICRKFETEE
   361  EKVLPFYSSV LTPKEQEGIQ KNNLEELTEE LTKVMVDYIG MENFWKRYNK VKLEQLSLQH
   421  RRAQLLDING KLREMLKQYL DGISVSDEVL SQLNPLFIVN YQSNLLQPLS IRIAHPGDKQ
   481  HPTT

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CCDC65 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.5
Highest tissue expression: 35 nTPM

Expression across tissuesHPA

Tissue

testis: 35 nTPM
fallopian tube: 25 nTPM
choroid plexus: 18 nTPM
retina: 6.6 nTPM
hypothalamus: 3.3 nTPM
basal ganglia: 3.1 nTPM

Single-cell type

late primary spermatocytes: 292 nCPM
epicardial cells: 273 nCPM
respiratory ciliated cells: 190 nCPM
fallopian tube ciliated cells: 185 nCPM
endometrial ciliated cells: 145 nCPM
early spermatids: 111 nCPM

Immune cell

MAIT T-cell: 9.1 nTPM
gdT-cell: 8.8 nTPM
memory CD4 T-cell: 7.5 nTPM
memory CD8 T-cell: 7.3 nTPM
naive CD8 T-cell: 6.2 nTPM
T-reg: 4.9 nTPM

Brain region

choroid plexus: 18 nTPM
hippocampal formation: 17 nTPM
cerebral cortex: 16 nTPM
basal ganglia: 15 nTPM
midbrain: 15 nTPM
hypothalamus: 14 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CCDC65.

Disease | AllUniProt

Conditions CCDC65 is implicated in, by any mechanism.

Ciliary dyskinesia, primary, 27 (CILD27) MIM:615504

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 34 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Primary ciliary dyskinesia 27

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 1.12
gnomAD pLI: 0
gnomAD missense Z: -0.24
DepMap mean gene effect: -0.14
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads CCDC65 as an antibody target. Whether an autoantibody or antibody against CCDC65 could matter depends on whether native CCDC65 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CCDC65 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label CCDC65 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Loading the interactive Seroatlas protein explorer...