CACFD1 (calcium channel flower domain containing 1)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 11094
Gene name Calcium channel flower domain containing 1
Gene symbol CACFD1
Synonyms (NCBI Gene)
C9orf7D9S2135FLOWER
Chromosome 9
Chromosome location 9q34.2
miRNA miRNA information provided by mirtarbase database.
262
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (262)
miRTarBase ID miRNA Experiments Reference
MIRT049607 hsa-miR-92a-3p qRT-PCR 23622248
MIRT049607 hsa-miR-92a-3p CLASH 23622248
MIRT039776 hsa-miR-615-3p CLASH 23622248
MIRT719125 hsa-miR-548as-3p HITS-CLIP 19536157
MIRT719124 hsa-miR-6771-3p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
14
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (14)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 21516116, 25416956, 32296183
GO:0005768 Component Endosome IEA
GO:0005769 Component Early endosome IEA
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005789 Component Endoplasmic reticulum membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
613104 1365 ENSG00000160325
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UGQ2
Protein name Calcium channel flower homolog (Calcium channel flower domain-containing protein 1)
Protein function Transmembrane protein which mediates synaptic endocytosis and fitness-based cell culling (PubMed:31341286, PubMed:37348560). In response to different stimulus strengths, controls two major modes of synaptic vesicle (SV) retrieval in hippocampal
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10233 Cg6151-P 34 → 143 Uncharacterized conserved protein CG6151-P Domain
Tissue specificity TISSUE SPECIFICITY: Detected in skin cells at low levels of expression (at protein level). {ECO:0000269|PubMed:31341286}.
Sequence
Sequence length 172
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Gene miRNA 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 (2)
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
BREAST CANCER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (4)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Coronary Disease Coronary artery disease Pubtator 37964352 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Depressive disorder Mental Depression BEFREE 31805143
★★★★★
★☆☆☆☆
Found in Text Mining only
Mental Depression Mental Depression BEFREE 31805143
★★★★★
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 31341286
★★★★★
★☆☆☆☆
Found in Text Mining only