CIMIP2B (ciliary microtubule inner protein 2B)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 730112
Gene name Ciliary microtubule inner protein 2B
Gene symbol CIMIP2B
Synonyms (NCBI Gene)
FAM166B
Chromosome 9
Chromosome location 9p13.3
miRNA miRNA information provided by mirtarbase database.
16
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (16)
miRTarBase ID miRNA Experiments Reference
MIRT644122 hsa-miR-6715a-3p HITS-CLIP 23824327
MIRT644121 hsa-miR-1250-3p HITS-CLIP 23824327
MIRT644120 hsa-miR-519d-5p HITS-CLIP 23824327
MIRT644119 hsa-miR-3934-3p HITS-CLIP 23824327
MIRT644118 hsa-miR-4753-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
9
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (9)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
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.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
A8MTA8
Protein name Ciliary microtubule inner protein 2B
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
PF10629 DUF2475 15 → 47 Protein of unknown function (DUF2475) Family
PF10629 DUF2475 234 → 267 Protein of unknown function (DUF2475) Family
Tissue specificity TISSUE SPECIFICITY: Expressed in airway epithelial cells. {ECO:0000269|PubMed:36191189}.
Sequence 
MAVASTFIPGLNPQNPHYIPGYTGHCPLLRFSVGQTYGQVTGQLLRGPPGLAWPPVHRTL
LPPIRPPRSPEVPRESLPVRRGQERLSSSMIPGYTGFVPRAQFIFAKNCSQVWAEALSDF
THLHEKQGSEELPKEAKGRKDTEKDQVPEPEGQLEEPTLEVVEQASPYSMDDRDPRKFFM
SGFTGYVPCARFLFGSSFPVLTNQALQEFGQKHSPGSAQDPKHLPPLPRTYPQNLGLLPN
YGGYVPGYKFQFGHTFGHLTHDALGLSTFQKQLLA
Sequence length 275
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Gene miRNA 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 (2)
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
Meckel-Gruber syndrome Uncertain significance ClinVar
Disgenet
★★★★★
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
STUVE-WIEDEMANN SYNDROME 2 — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (2)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Ciliopathies Ciliopathy Pubtator 32055034 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Polycystic Ovary Syndrome Polycystic ovary syndrome Pubtator 39398336 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only