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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 nameGene Name - the full gene name approved by the HGNC.
CBY1 interacting BAR domain containing 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
CIBAR1
SynonymsGene synonyms aliases
BARMR1, FAM92A, FAM92A1, PAPA9
ChromosomeChromosome number
8
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
8q22.1
SNPsSNP information provided by dbSNP.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
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
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25416956, 27528616
GO:0005543 Function Phospholipid binding IDA 30404948
GO:0005634 Component Nucleus IDA 30404948
GO:0005737 Component Cytoplasm IDA 27528616, 30404948
GO:0005743 Component Mitochondrial inner membrane IDA 30404948
Other IDsOther 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
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
Associated diseases
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Causal
Disease name Disease term dbSNP ID References
Polydactyly POLYDACTYLY, POSTAXIAL, Postaxial polydactyly type A, Polydactyly, Postaxial, Type A1 rs1583729398, rs121917709, rs1583734240, rs121917714, rs397507422, rs398122899, rs587776959, rs386833752, rs1057518698, rs1060499558, rs755938967, rs1375768446, rs1309855392, rs1565601979, rs748321474, rs368652620, rs1562587032, rs760694987 30395363
Polysyndactyly Polysyndactyly rs1583729562, rs121917713 30395363
Syndactyly Syndactyly rs878854345, rs104893635, rs28931600, rs587777050, rs587777051, rs606231304 30395363
Unknown
Disease name Disease term dbSNP ID References
Ciliopathies Ciliopathies 30395363
Postaxial polydactyly POSTAXIAL POLYDACTYLY, TYPE B rs121917710 30395363
Postaxial hand polydactyly Ulnar polydactyly of fingers

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