Gene Gene information from NCBI Gene database.
Entrez ID 642273
Gene name Family with sequence similarity 110 member C
Gene symbol FAM110C
Synonyms (NCBI Gene)
-
Chromosome 2
Chromosome location 2p25.3
miRNA miRNA information provided by mirtarbase database.
298
miRTarBase ID miRNA Experiments Reference
MIRT016776 hsa-miR-335-5p Microarray 18185580
MIRT026135 hsa-miR-192-5p Microarray 19074876
MIRT537507 hsa-miR-1273d PAR-CLIP 22012620
MIRT026135 hsa-miR-192-5p PAR-CLIP 22012620
MIRT537506 hsa-miR-215-5p PAR-CLIP 22012620
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
16
GO ID Ontology Definition Evidence Reference
GO:0000922 Component Spindle pole IEA
GO:0005515 Function Protein binding IPI 19698782, 21988832, 23455922, 32707033, 33961781
GO:0005634 Component Nucleus IEA
GO:0005737 Component Cytoplasm IEA
GO:0005813 Component Centrosome IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611395 33340 ENSG00000184731
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q1W6H9
Protein name Protein FAM110C
Protein function May play a role in microtubule organization. May play a role in cell spreading and cell migration of epithelial cells; the function may involve the AKT1 signaling pathway.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF14161 FAM110_N 2 105 Centrosome-associated N terminus Family
PF14160 FAM110_C 194 303 Centrosome-associated C terminus Family
Tissue specificity TISSUE SPECIFICITY: Detected in stomach, thyroid, trachea, adrenal gland and testis, and at low levels in prostate, ovary, intestine, colon, spinal cord and lymph node. {ECO:0000269|PubMed:17499476}.
Sequence
Sequence length 321
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Aplasia/Hypoplasia of the phalanges of the 4th toe Pathogenic rs2464926753, rs1430363516 RCV002292653
RCV002292654
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Streaky metaphyseal sclerosis Pathogenic rs2464926753, rs1430363516 RCV002292653
RCV002292654
★★★★☆
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
COLOR VISION DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
RESTLESS LEGS SYNDROME 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
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 34414947 Associate
★☆☆☆☆
Found in Text Mining only
Hepatitis B Chronic Hepatitis b Pubtator 34414947 Associate
★☆☆☆☆
Found in Text Mining only