FAM120C (family with sequence similarity 120 member C)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 54954 |
| Gene name | Family with sequence similarity 120 member C |
| Gene symbol | FAM120C |
| Synonyms (NCBI Gene) |
CXorf17ORF34
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| Chromosome | X |
| Chromosome location | Xp11.22 |
| Summary | This gene encodes a potential transmembrane protein and lies in a region where mutations and deletions have been associated with intellectual disability and autism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 201 |
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miRNA
miRNA information provided by mirtarbase database.
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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Protein
Protein information from UniProt database.
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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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Q9NX05 | |
| Protein name | Constitutive coactivator of PPAR-gamma-like protein 2 (Protein FAM120C) (Tumor antigen BJ-HCC-21) | |
| Family and domains | ||
| Tissue specificity | TISSUE SPECIFICITY: Expressed at low levels in a number of tissues. {ECO:0000269|PubMed:14585507}. | |
| Sequence |
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| Sequence length | 1096 | |
| Interactions | View interactions | |
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Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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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)
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Related Genes
Genes most often co-reported with FAM120C across shared curated disease and pathway associations.
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Diseases Linked via Similar Genes
Diseases curated for genes most similar to FAM120C (see Related Genes above), that are NOT already directly curated for FAM120C itself -- a lead worth checking, not a confirmed association.
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