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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 Show/Hide all (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 Show/Hide all (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
PF13499 EF-hand_7 93 → 157 EF-hand domain pair Domain
PF13833 EF-hand_8 34 → 81 EF-hand domain pair Domain
PF13833 EF-hand_8 24 → 50 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.
Show/Hide Unknown Diseases (7)
Phenotype Name Clinical Significance Source Reference Evidence Score
ESSENTIAL TREMOR — GWAS catalog 34982113
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HEPATOCELLULAR CARCINOMA — GWAS catalog 21105107
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA — GWAS catalog 40341939
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LUNG CANCER — GWAS catalog 40341939
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA — GWAS catalog 40341939
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (7)
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