EFCAB11 (EF-hand calcium binding domain 11)

Gene
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
90141
Gene name Gene Name - the full gene name approved by the HGNC.
EF-hand calcium binding domain 11
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
EFCAB11
Synonyms (NCBI Gene) Gene synonyms aliases
C14orf143
Chromosome Chromosome number
14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
14q32.11
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
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 information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID 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
DSVMSSINPNTSGILLEGFLNIVRKKKEAQRYRNEVRHIFTAFDTYYRGFLTLEDFKKAF
RQVAPKLPERTVLEVFREVDRDSDGHVSFRDFEYALNYGQKEA
Sequence length 163
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Tremor Essential tremor N/A N/A GWAS
Show/Hide Text Mining Associations (5)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Cardiovascular Diseases Associate 22503546
Carotid Stenosis Associate 22503546
Multiple System Atrophy Associate 27470294
Neurodegenerative Diseases Associate 22503546
Synucleinopathies Associate 27470294