Gene Gene information from NCBI Gene database.
Entrez ID 114841037
Gene name Ciliary microtubule inner protein 3
Gene symbol CIMIP3
Synonyms (NCBI Gene)
GUCA1ANB
Chromosome 6
Chromosome location 6p21.1
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
5
GO ID Ontology Definition Evidence Reference
GO:0005737 Component Cytoplasm IEA
GO:0005856 Component Cytoskeleton IEA
GO:0005929 Component Cilium IEA
GO:0031514 Component Motile cilium IEA
GO:0042995 Component Cell projection IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
X6R8D5
Protein name Ciliary microtubule inner protein 3 (GUCA1A neighbor)
Family and domains
Sequence
MGRKEHESPSQPHMCGWEDSQKPSVPSHGPKTPSCKGVKAPHSSRPRAWKQDLEQSLAAA
YVPVVVDSKGQNPDKLRFNFYTSQYSNSLNPFYTLQKPTCGYLYRRDTDHTRKRFDVPPA
NLVLWRS
Sequence length 127
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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 Evidence Score
CONE DYSTROPHY 3 Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations