Gene Gene information from NCBI Gene database.
Entrez ID 130813
Gene name Ciliary microtubule inner protein 5
Gene symbol CIMIP5
Synonyms (NCBI Gene)
C2orf50
Chromosome 2
Chromosome location 2p25.1
miRNA miRNA information provided by mirtarbase database.
22
miRTarBase ID miRNA Experiments Reference
MIRT644888 hsa-miR-4753-5p HITS-CLIP 23824327
MIRT644887 hsa-miR-3194-5p HITS-CLIP 23824327
MIRT644888 hsa-miR-4753-5p HITS-CLIP 23824327
MIRT644887 hsa-miR-3194-5p HITS-CLIP 23824327
MIRT845904 hsa-miR-183 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
4
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25416956, 32296183
GO:0005929 Component Cilium IDA 38538594
GO:0005929 Component 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.
Q96LR7
Protein name Ciliary microtubule inner protein 5
Family and domains
Sequence
MGSHPTPGLQRTTSAGYRLPPTRPPASVSPAARGGPMASRGLAGGCQAPQALKAQRVAQG
AACDGVQQDQLWRELLEAERRGQQRWIQNWSFLKDYDPMGNKKEPEKLPDHVPLFSDTVP
SSTNQVVGSRLDTPLGQTLIRMDFFFTEGARKKKLEDQMQPI
Sequence length 162
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
OBESITY GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations