CIBAR2 (CBY1 interacting BAR domain containing 2)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID 339145
Gene name CBY1 interacting BAR domain containing 2
Gene symbol CIBAR2
Synonyms (NCBI Gene)
FAM92B
Chromosome 16
Chromosome location 16q24.1
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
10
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all (10)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 27528616
GO:0005737 Component Cytoplasm IEA
GO:0005814 Component Centriole IEA
GO:0005856 Component Cytoskeleton IEA
GO:0030030 Process Cell projection organization 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
617274 24781 ENSG00000153789
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.
Q6ZTR7
Protein name CBY1-interacting BAR domain-containing protein 2 (Protein FAM92B)
Protein function May play a role in ciliogenesis (By similarity). In cooperation with CBY1 may facilitate ciliogenesis likely by the recruitment and fusion of endosomal vesicles at distal appendages during early stages of ciliogenesis (PubMed:27528616). {ECO:000
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF06730 FAM92 1 → 217 FAM92 protein Family
Tissue specificity TISSUE SPECIFICITY: Restricted to certain tissues, most prominently expressed in multicilaited tissues. {ECO:0000269|PubMed:27528616}.
Sequence
Sequence length 304
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
5
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (1)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
CIBAR2-related disorder Benign; Likely benign; Uncertain significance rs148969047, rs141444139, rs61740642, rs553906448, rs149617066 RCV003921859
RCV003941913
RCV003927027
RCV003932179
RCV003946824