CFAP95 (cilia and flagella associated protein 95)

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Gene Gene information from NCBI Gene database.
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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) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
18 Show/Hide all (18)
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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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
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UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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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 ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Reference Evidence Score
STROKE — GWAS catalog 32693751, 38317187
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Lung Neoplasms Lung neoplasms Pubtator 32045668 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only

No strongly related genes found yet for CFAP95.

No additional diseases found yet through genes similar to CFAP95.