Gene Gene information from NCBI Gene database.
Entrez ID 126567
Gene name C2 calcium dependent domain containing 4C
Gene symbol C2CD4C
Synonyms (NCBI Gene)
FAM148CKIAA1957NLF3
Chromosome 19
Chromosome location 19p13.3
miRNA miRNA information provided by mirtarbase database.
40
miRTarBase ID miRNA Experiments Reference
MIRT845424 hsa-miR-137 CLIP-seq
MIRT845425 hsa-miR-150 CLIP-seq
MIRT845426 hsa-miR-25 CLIP-seq
MIRT845427 hsa-miR-2861 CLIP-seq
MIRT845428 hsa-miR-3120-3p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
1
GO ID Ontology Definition Evidence Reference
GO:0005829 Component Cytosol IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610336 29417 ENSG00000183186
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8TF44
Protein name C2 calcium-dependent domain-containing protein 4C (Nuclear-localized factor 3) (Protein FAM148C)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00168 C2 320 419 C2 domain Domain
Sequence
MRKTNMWFLERLRGSGENGAARGVGSEAGDKASKGPLYSNVLTPDKIPDFFIPPKLPSGP
AEGEGQAALGPSTSEQNLASAAPRQTPRSPRLPAKLAAESKSLLKAATRHVIQIESAEDW
LSEEATDADPQAQGAMSLPSVPKAQTSYGFAMLAESPHTRRKESLFHSEHGALAQVGSPG
AGRRRAAAKANGGDGGPREAGGALMSPGRYFSGGESDTGSSAESSPFGSPLLSRSVSLLK
GFAQDSQAKVSQLRHSVGRHGSLSADDSTPDASPGSRRRLTRRAPPEPGPESGQARGEHT
VHVGPRGSVRLLAEYEAGQARLRVHLLAAEGLYDRLCDARSINCCVGLCLVPGKLQKQRS
TIVKNSRRPVFNEDFFFDGLGPASVRKLALRIKVVNKGSSLKRDTLLGEKELPLTSLLP
F
L
Sequence length 421
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
OBESITY GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SAPHO SYNDROME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations