Gene Gene information from NCBI Gene database.
Entrez ID 440836
Gene name Ciliary microtubule associated protein 1B
Gene symbol CIMAP1B
Synonyms (NCBI Gene)
FAP123ODF3BODF3L3
Chromosome 22
Chromosome location 22q13.33
miRNA miRNA information provided by mirtarbase database.
1
miRTarBase ID miRNA Experiments Reference
MIRT018217 hsa-miR-335-5p Microarray 18185580
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
5
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005856 Component Cytoskeleton IBA
GO:0005929 Component Cilium IEA
GO:0031514 Component Motile cilium IEA
GO:0042995 Component Cell projection IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
A8MYP8
Protein name Ciliary microtubule associated protein 1B (Outer dense fiber protein 3-like protein 3) (Outer dense fiber protein 3B)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07004 SHIPPO-rpt 65 96 Sperm-tail PG-rich repeat Repeat
PF07004 SHIPPO-rpt 181 211 Sperm-tail PG-rich repeat Repeat
PF07004 SHIPPO-rpt 217 243 Sperm-tail PG-rich repeat Repeat
Sequence
MGSDAWVGLWRPHRPRGPIAAHYGGPGPKYKLPPNTGYALHDPSRPRAPAFTFGARFPTQ
QTTCGPGPGHLVPARMTVRGTDGAPAYSIYGRPRRSAPFLTPGPGRYFPERAGNATYPSA
PRHTIAPRNWGVQAEQQSPGPAAYTVPSLLGPRVIGKVSAPTCSIYGRRAAGSFFEDLSK
TPGPCAYQVVSPGVYKSRAPQFTILARTSLPQDNTRKPGPAAYNVDQHRKPRGWSFGIRH
SDY
LAPLVTDADN
Sequence length 253
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
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
CHRONIC LYMPHOCYTIC LEUKEMIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DIFFUSE LARGE B-CELL LYMPHOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS 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
Multiple Sclerosis Multiple sclerosis Pubtator 25526461 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Polycystic Ovary Syndrome Polycystic Ovary Syndrome CTD_human_DG 21411543
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Sclerocystic Ovaries Sclerocystic Ovaries CTD_human_DG 21411543
★☆☆☆☆
Found in Text Mining only