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Gene Gene information from NCBI Gene database.
Entrez ID 440956
Gene name IQ motif containing F6
Gene symbol IQCF6
Synonyms (NCBI Gene)
-
Chromosome 3
Chromosome location 3p21.2
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
1
GO ID Ontology Definition Evidence Reference
GO:0005516 Function Calmodulin binding IBA
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.
A8MYZ5
Protein name IQ domain-containing protein F6
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00612 IQ 43 → 63 IQ calmodulin-binding motif Motif
PF00612 IQ 66 → 79 IQ calmodulin-binding motif Motif
Sequence
MVRRTLLQAALRAWVIQCWWRSMQAKMLEQRRRLALRLYTCQEWAVVKVQAQVRMWQARR
RFL
QARQAACIIQSHWRWHASQTRGLIRGHYEVRASRLELDIEILMT
Sequence length 107
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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 Reference Evidence Score
ALZHEIMER DISEASE — GWAS catalog 35589863
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME — GWAS catalog 39349817
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS — GWAS catalog 39349817, 40465716
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations