id: A0A5F5PJ44
gene_symbol: CC2D2A
taxon:
  id: NCBITaxon:9796
  label: Equus caballus
status: COMPLETE
description: The conserved ciliary architecture supports Hedgehog and developmental roles, with kidney-development
  specificity still uncertain.
source_documents:
- projects/PROTNLM_EVALUATION/mammal-benchmark/horse40-predictions.csv
- projects/PROTNLM_EVALUATION/mammal-benchmark/predictions.jsonl.gz
- projects/PROTNLM_EVALUATION/mammal-benchmark/paired-sequences/CC2D2A.json
references:
- id: PMID:24947469
  title: Ciliopathy-associated gene Cc2d2a promotes assembly of subdistal appendages on the mother centriole
    during cilia biogenesis.
  full_text_unavailable: false
  findings: []
- id: file:HORSE/CC2D2A/CC2D2A-bioinformatics/RESULTS.md
  title: HORSE/CC2D2A/CC2D2A-bioinformatics/RESULTS.md
  findings: []
predictions:
- source_method: ProtNLM2
  source_version: UniProt API snapshot 2026-09-08
  predicted_term:
    id: GO:0007507
    label: heart development
  predicted_term_type: GO_BP
  review:
    assessment: COR
    confidence_score: 2
    summary: Mouse loss of Cc2d2a disrupts embryonic laterality and heart positioning. The conserved horse
      ciliary scaffold supports this broad developmental role; it is not a cardiac-specific molecular
      activity. N-terminal differences predominantly involve the human disordered region.
    supported_by:
    - reference_id: PMID:24947469
      supporting_text: Cc2d2a-/- embryos often revealed situs inversus and dextrocardia
    - &id001
      reference_id: PMID:24947469
      supporting_text: The mouse Cc2d2a transgene could rescue the axoneme assembly defect in Cc2d2a-/-
        MEFs
    - &id002
      reference_id: file:HORSE/CC2D2A/CC2D2A-bioinformatics/RESULTS.md
      supporting_text: share 90.3% identity among 1478 paired residues.
    - &id003
      reference_id: file:HORSE/CC2D2A/CC2D2A-bioinformatics/RESULTS.md
      supporting_text: Both intervals fall within the human UniProt record's predicted disordered region
        1–241.
- source_method: ProtNLM2
  source_version: UniProt API snapshot 2026-09-08
  predicted_term:
    id: GO:0007224
    label: smoothened signaling pathway
  predicted_term_type: GO_BP
  review:
    assessment: COR
    confidence_score: 2
    summary: Cc2d2a deficiency disrupts Shh-dependent ventral neural patterning through ciliary assembly
      defects. Conservation of the horse ciliary scaffold supports pathway participation, without implying
      direct Smoothened binding or receptor activity.
    supported_by:
    - reference_id: PMID:24947469
      supporting_text: the neural tube patterning defect of Cc2d2a-/- embryos mostly affects ventral cell
        fates, consistent with a perturbation of Shh signaling
    - *id001
    - *id002
    - *id003
- source_method: ProtNLM2
  source_version: UniProt API snapshot 2026-09-08
  predicted_term:
    id: GO:0001822
    label: kidney development
  predicted_term_type: GO_BP
  review:
    assessment: UNC
    confidence_score: 1
    summary: Cc2d2a is required for cilia in developing renal tubules and is associated with renal ciliopathy.
      The retrieved mouse experiment documents defective renal ciliation, but this alone does not distinguish
      kidney morphogenesis from ciliary function or later renal homeostasis. A kidney-development-specific
      phenotype or mechanistic analysis would resolve the broader prediction.
    supported_by:
    - reference_id: PMID:24947469
      supporting_text: Perinatal kidney tubules and tracheal epithelium revealed few cilia in Cc2d2a-/-
        embryos
    - *id002
- source_method: ProtNLM2
  source_version: UniProt API snapshot 2026-09-08
  predicted_term:
    id: GO:0001843
    label: neural tube closure
  predicted_term_type: GO_BP
  review:
    assessment: COR
    confidence_score: 2
    summary: The mouse loss-of-function study links defective cilia-dependent Shh signaling to open neural
      tube/exencephaly. The conserved horse architecture supports a role in this developmental process,
      although horse-specific phenotypes have not been measured.
    supported_by:
    - reference_id: PMID:24947469
      supporting_text: 'disruption of cilia-dependent Shh signalling appears to

        underlie exencephaly in mutant embryos'
    - *id002
    - *id003