CIMIP6 (ciliary microtubule inner protein 6)

Gene

• Entrez ID: 129852
• Gene name: Ciliary microtubule inner protein 6
• Gene symbol: CIMIP6
• Synonyms (NCBI Gene): C2orf73
• Chromosome: 2
• Chromosome location: 2p16.2

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT846388	hsa-miR-3616-5p	CLIP-seq
MIRT846389	hsa-miR-3647-5p	CLIP-seq
MIRT846390	hsa-miR-4434	CLIP-seq
MIRT846391	hsa-miR-4516	CLIP-seq
MIRT846392	hsa-miR-4531	CLIP-seq
MIRT846393	hsa-miR-4694-3p	CLIP-seq
MIRT846394	hsa-miR-4786-3p	CLIP-seq
MIRT846395	hsa-miR-4795-5p	CLIP-seq
MIRT846396	hsa-miR-522	CLIP-seq
MIRT846397	hsa-miR-573	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005929	Component	Cilium	IEA
GO:0042995	Component	Cell projection	IEA

Other IDs

• MIM: HGNC
• HGNC: N/A
• e!Ensembl: HGNC

Protein

• UniProt ID: Q8N5S3
• Protein name: Ciliary microtubule inner protein 6
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF15667	GDWWSH	38 → 284	Protein of unknown function with motif GDWWSH	Family

• Sequence:

  MEEKEDKHQQHKIEDAAITYVSENEEIKHEEKPGKSIHHSKSHVGRGRIYYAKFINTNAR
  TYNEPFPYIDPKKGPEIQGDWWSHGKALEPVFLPPYDSKSTQRSDFQKPSCPLVLPVKHS
  KMQKPSCGIVPLASPGTSAELQNNFIEYISFIHQYDARKTPNEPLQGKRHGAFVQREIKP
  GSRPTVPKGAEVLLNTPGSRSSEQSKKTEKGNSAESRMISPGLCQQNSQELLEPKTHLSE
  TDVRQAAKACPSTPESREKTSGATQTTVGDALFTRHKPLNPPIKKSE

• Sequence length: 287

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URINARY SYSTEM DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations