CFAP95 (cilia and flagella associated protein 95)

Gene

• Entrez ID: 138255
• Gene name: Cilia and flagella associated protein 95
• Gene symbol: CFAP95
• Synonyms (NCBI Gene): C9orf135
• Chromosome: 9
• Chromosome location: 9q21.12

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005737	Component	Cytoplasm	IDA	28345668
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005879	Component	Axonemal microtubule	IDA	36191189
GO:0005879	Component	Axonemal microtubule	ISS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	28345668
GO:0005886	Component	Plasma membrane	IEA
GO:0005929	Component	Cilium	IEA
GO:0016020	Component	Membrane	IEA
GO:0030317	Process	Flagellated sperm motility	IEA
GO:0030317	Process	Flagellated sperm motility	ISS
GO:0031514	Component	Motile cilium	IEA
GO:0036126	Component	Sperm flagellum	IEA
GO:0036126	Component	Sperm flagellum	ISS
GO:0042995	Component	Cell projection	IEA
GO:0160111	Component	Axonemal A tubule inner sheath	IEA
GO:0160111	Component	Axonemal A tubule inner sheath	ISS

Other IDs

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

Protein

• UniProt ID: Q5VTT2
• Protein name: Cilia- and flagella-associated protein 95
• Protein function: Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia axoneme, which is required for motile cilia beating.
• PDB: 7UNG, 8J07
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF15139	DUF4572	28 → 220	Domain of unknown function (DUF4572)	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in undifferentiated embryonic stem cells. Expressed in airway epithelial cells (PubMed:36191189). {ECO:0000269|PubMed:28345668, ECO:0000269|PubMed:36191189}.
• Sequence:

  MDSLDRSCQDWCDRKQHWLEIGPPDLVERKGSLTLRSHHKKYSKPVLVYSWHRDREAFPK
  GYDIEGPEKVKKLCNSTYRRLGTDESPIWTSETHEKLSQMCLNTEWVEMKSKALLNEETV
  SSGIIERVTGLPATGFGAVFPRHPPDWSKMCALTTYSEDYVPPYDYQPHAYPCQDDYSIV
  HRKCRSQFTDLNGSKRFGINTWHDESGIYANSDVKQKLYPLTSGPIVPI

• Sequence length: 229

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
STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Lung Neoplasms	Lung neoplasms	Pubtator	32045668	Associate	★☆☆☆☆ Found in Text Mining only