Gene Gene information from NCBI Gene database.
Entrez ID 81493
Gene name Syncoilin, intermediate filament protein
Gene symbol SYNC
Synonyms (NCBI Gene)
SYNC1SYNCOILIN
Chromosome 1
Chromosome location 1p35.1
Summary This gene encodes a member of the intermediate filament family which contains an N-terminal head domain, followed by a central coiled-coil region and a short C-terminal tail. The protein is highly expressed in skeletal and cardiac muscle. The protein link
miRNA miRNA information provided by mirtarbase database.
465
miRTarBase ID miRNA Experiments Reference
MIRT022350 hsa-miR-124-3p Microarray 18668037
MIRT652949 hsa-miR-1302 HITS-CLIP 23824327
MIRT652947 hsa-miR-4298 HITS-CLIP 23824327
MIRT652948 hsa-miR-3122 HITS-CLIP 23824327
MIRT652946 hsa-miR-3913-5p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
14
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32814053, 33961781, 35271311
GO:0005737 Component Cytoplasm IEA
GO:0005829 Component Cytosol IBA
GO:0005829 Component Cytosol IEA
GO:0005882 Component Intermediate filament IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611750 28897 ENSG00000162520
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9H7C4
Protein name Syncoilin (Syncoilin intermediate filament 1) (Syncoilin-1)
Protein function Atypical type III intermediate filament (IF) protein that may play a supportive role in the efficient coupling of mechanical stress between the myofibril and fiber exterior. May facilitate lateral force transmission during skeletal muscle contra
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00038 Filament 168 459 Intermediate filament protein Coiled-coil
Sequence
Sequence length 482
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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
SYNC-related disorder Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations