Gene Gene information from NCBI Gene database.
Entrez ID 90141
Gene name EF-hand calcium binding domain 11
Gene symbol EFCAB11
Synonyms (NCBI Gene)
C14orf143
Chromosome 14
Chromosome location 14q32.11
miRNA miRNA information provided by mirtarbase database.
306
miRTarBase ID miRNA Experiments Reference
MIRT024461 hsa-miR-215-5p Microarray 19074876
MIRT026469 hsa-miR-192-5p Microarray 19074876
MIRT509755 hsa-miR-1273d HITS-CLIP 21572407
MIRT517798 hsa-miR-5580-3p HITS-CLIP 21572407
MIRT551412 hsa-miR-501-3p HITS-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
7
GO ID Ontology Definition Evidence Reference
GO:0000226 Process Microtubule cytoskeleton organization IBA
GO:0005509 Function Calcium ion binding IBA
GO:0005509 Function Calcium ion binding IEA
GO:0005515 Function Protein binding IPI 32296183
GO:0005737 Component Cytoplasm 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.
Q9BUY7
Protein name EF-hand calcium-binding domain-containing protein 11
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13833 EF-hand_8 24 50 EF-hand domain pair Domain
PF13833 EF-hand_8 34 81 EF-hand domain pair Domain
PF13499 EF-hand_7 93 157 EF-hand domain pair Domain
Sequence
MFFSEARARSRTWEASPSEHRKWVEVFKACDEDHKGYLSREDFKTAVVMLFGYKPSKIEV
DSVMSSINPNTSGILLEGFLN
IVRKKKEAQRYRNEVRHIFTAFDTYYRGFLTLEDFKKAF
RQVAPKLPERTVLEVFREVDRDSDGHVSFRDFEYALN
YGQKEA
Sequence length 163
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
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
ESSENTIAL TREMOR GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HEPATOCELLULAR CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LUNG CANCER 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
Cardiovascular Diseases Cardiovascular disease Pubtator 22503546 Associate
★☆☆☆☆
Found in Text Mining only
Carotid Stenosis Carotid artery stenosis Pubtator 22503546 Associate
★☆☆☆☆
Found in Text Mining only
Liver carcinoma Liver carcinoma BEFREE 25665738
★☆☆☆☆
Found in Text Mining only
Multiple System Atrophy Multiple system atrophy Pubtator 27470294 Associate
★☆☆☆☆
Found in Text Mining only
Neurodegenerative Diseases Neurodegenerative disorder Pubtator 22503546 Associate
★☆☆☆☆
Found in Text Mining only
Schizophrenia Schizophrenia BEFREE 24482440
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Schizophrenia Schizophrenia PSYGENET_DG 24482440
★★☆☆☆
Found in Text Mining + Unknown/Other Associations