Gene Gene information from NCBI Gene database.
Entrez ID 91272
Gene name Biorientation of chromosomes in cell division 1
Gene symbol BOD1
Synonyms (NCBI Gene)
FAM44B
Chromosome 5
Chromosome location 5q35.2
miRNA miRNA information provided by mirtarbase database.
438
miRTarBase ID miRNA Experiments Reference
MIRT021643 hsa-miR-142-3p Microarray 17612493
MIRT614393 hsa-miR-29b-1-5p HITS-CLIP 23824327
MIRT611412 hsa-miR-450b-5p HITS-CLIP 23824327
MIRT611411 hsa-miR-507 HITS-CLIP 23824327
MIRT611410 hsa-miR-557 HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
20
GO ID Ontology Definition Evidence Reference
GO:0000775 Component Chromosome, centromeric region IEA
GO:0000776 Component Kinetochore IEA
GO:0000922 Component Spindle pole IDA 17938248
GO:0000940 Component Outer kinetochore IDA 17938248
GO:0004864 Function Protein phosphatase inhibitor activity IDA 24157919
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
616745 25114 ENSG00000145919
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96IK1
Protein name Biorientation of chromosomes in cell division protein 1 (Biorientation defective protein 1) (Protein FAM44B)
Protein function Required for proper chromosome biorientation through the detection or correction of syntelic attachments in mitotic spindles.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05205 COMPASS-Shg1 54 150 Family
Sequence
MADGGGGGGTGAVGGGGTSQASAGAATGATGASGGGGPINPASLPPGDPQLIALIVEQLK
SRGLFDSFRRDCLADVDTKPAYQNLRQKVDNFVSTHLDKQEWNPTMNKNQLRNGLRQSVV
QSGMLEAGVDRIISQVVDPKLNHIFRPQIE
RAIHEFLAAQKKAAVPAPPPEPEGQDPPAP
SQDTS
Sequence length 185
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
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
BOD1-related disorder Likely benign; Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BOD1-related Intellectual Disability Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DISABILITY Disgenet, GenCC
Disgenet, GenCC
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SCOLIOSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Breast Carcinoma Breast Carcinoma BEFREE 30091683
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 30091683 Associate
★☆☆☆☆
Found in Text Mining only
Intellectual Disability Mental retardation BEFREE 27166630
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of breast Breast Cancer BEFREE 30091683
★☆☆☆☆
Found in Text Mining only