CIBAR1 (CBY1 interacting BAR domain containing 1)

Gene
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
137392
Gene name Gene Name - the full gene name approved by the HGNC.
CBY1 interacting BAR domain containing 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CIBAR1
Synonyms (NCBI Gene) Gene synonyms aliases
BARMR1, FAM92A, FAM92A1, PAPA9
Chromosome Chromosome number
8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
8q22.1
SNPs SNP information provided by dbSNP.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide all(1)
SNP ID Visualize variation Clinical significance Consequence
rs368652620 C>G,T Pathogenic Non coding transcript variant, stop gained, missense variant, coding sequence variant, genic downstream transcript variant
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide all(37)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25416956, 27528616, 32296183, 33961781
GO:0005543 Function Phospholipid binding IDA 30404948
GO:0005634 Component Nucleus IDA 17646714, 30404948
GO:0005634 Component Nucleus IEA
GO:0005737 Component Cytoplasm IDA 27528616, 30404948
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
617273 30452 ENSG00000188343
Protein
Gene SNPs Gene ontology Other IDs Protein Associated diseases
UniProt ID A1XBS5
Protein name CBY1-interacting BAR domain-containing protein 1
Protein function Plays a critical role in regulating mitochondrial ultrastructure and function by maintaining the integrity of mitochondrial morphology, particularly the organization of cristae (PubMed:30404948). Preferentially binds to negatively charged phosph
PDB 8CEG
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF06730 FAM92 1 → 219 FAM92 protein Family
Sequence
Sequence length 289
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Polydactyly Polydactyly, postaxial, type A9 rs368652620 N/A
Show/Hide Unknown Diseases (4)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Glioblastoma Glioblastoma N/A N/A GWAS
Insomnia Insomnia N/A N/A GWAS
Mental Depression Major depressive disorder N/A N/A GWAS
Schizophrenia Schizophrenia N/A N/A GWAS