CABCOCO1 (ciliary associated calcium binding coiled-coil 1)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID 219621
Gene name Ciliary associated calcium binding coiled-coil 1
Gene symbol CABCOCO1
Synonyms (NCBI Gene)
ARIELC10orf107
Chromosome 10
Chromosome location 10q21.2
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
12
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all (12)
GO ID Ontology Definition Evidence Reference
GO:0005509 Function Calcium ion binding ISS
GO:0005515 Function Protein binding IPI 32814053
GO:0005737 Component Cytoplasm IEA
GO:0005737 Component Cytoplasm ISS
GO:0005813 Component Centrosome 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
HGNC N/A HGNC
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.
Q8IVU9
Protein name Ciliary-associated calcium-binding coiled-coil protein 1
Protein function Calcium-binding protein. May be involved in the control of sperm flagellar movement.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF14769 CLAMP 1 → 92 Flagellar C1a complex subunit C1a-32 Family
Sequence 
MDFSIIQYSKFMTLLAMSLQNLKTLHMSLEESIKWLGEVMAEIGPTHSQKSEDWNIFDVK
QANAIIDYLKISLFQHYKLYEFMFYSAREEIVIGTEQVIEVVKSACGPFPNPLEEGISFD
IYSTFIEPPTILDTEMKRLDQEQGPEESQPETDTSDMDPLVGFTIEDVKSVLDQVTDDIL
IGIQTEINEKLQIQEEAFNARIEKLKKA
Sequence length 208
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
9
Gene Gene ontology Other IDs Protein Associated diseases
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)
Show/Hide Unknown Diseases (9)
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
CARDIOVASCULAR DISEASE — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHOLANGIOCARCINOMA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ESSENTIAL HYPERTENSION — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (3)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Cardiovascular Diseases Cardiovascular Diseases GWASCAT_DG 30595370
★★★★★
★☆☆☆☆
Found in Text Mining only
Coronary heart disease Coronary Heart Disease GWASDB_DG 21347282
★★★★★
★☆☆☆☆
Found in Text Mining only
Hypertension Hypertension Pubtator 19430483, 23133444 Associate
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations