CIMIP2C (ciliary microtubule inner protein 2C)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID 339778
Gene name Ciliary microtubule inner protein 2C
Gene symbol CIMIP2C
Synonyms (NCBI Gene)
C2orf70FAM166C
Chromosome 2
Chromosome location 2p23.3
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
14
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all (14)
GO ID Ontology Definition Evidence Reference
GO:0005634 Component Nucleus HDA 21630459
GO:0005737 Component Cytoplasm IEA
GO:0005856 Component Cytoskeleton IEA
GO:0005879 Component Axonemal microtubule IDA 36191189
GO:0005929 Component Cilium IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
A6NJV1
Protein name Ciliary microtubule inner protein 2C
Protein function Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia axoneme, which is required for motile cilia beating (PubMed:36191189). Binds to the intra-tubulin interfaces (By similarity). {ECO:0000250|UniProtK
PDB 7UNG , 8J07
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10629 DUF2475 19 → 85 Protein of unknown function (DUF2475) Family
Tissue specificity TISSUE SPECIFICITY: Expressed in airway epithelial cells. {ECO:0000269|PubMed:36191189}.
Sequence 
MASRSAGTLLTEFNAAYVPPGLMPGYQGHVPTVAFSFGAPYGTTTLKYFQDHRNRAMEKS
HTPFSQGGHFPTIFSTNPNLLLMERASTRDRWLHKPSYTRFNLDSHRSTELTNFYQMVQQ
HRKYYQDKTGTVPRVPYFAMPVREPERYPLPTVLPPLCPKKKWHLLRLAPENLKTYQTFP
SGKRVSPQERKKRDCYFEFRA
Sequence length 201
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Gene Gene ontology Other IDs Protein 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)
Show/Hide Unknown Diseases (1)
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 Evidence Score
PERIODONTITIS — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations