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Gene Gene information from NCBI Gene database.
Entrez ID 828
Gene name Calcyphosine
Gene symbol CAPS
Synonyms (NCBI Gene)
CAPS1
Chromosome 19
Chromosome location 19p13.3
Summary This gene encodes a calcium-binding protein, which may play a role in the regulation of ion transport. A similar protein was first described as a potentially important regulatory protein in the dog thyroid and was termed as R2D5 antigen in rabbit. Alterna
miRNA miRNA information provided by mirtarbase database.
25 Show/Hide all (25)
miRTarBase ID miRNA Experiments Reference
MIRT862478 hsa-miR-1258 CLIP-seq
MIRT862479 hsa-miR-1265 CLIP-seq
MIRT862480 hsa-miR-1307 CLIP-seq
MIRT862481 hsa-miR-1908 CLIP-seq
MIRT862482 hsa-miR-1914 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
9 Show/Hide all (9)
GO ID Ontology Definition Evidence Reference
GO:0005509 Function Calcium ion binding IEA
GO:0005509 Function Calcium ion binding TAS 2540953
GO:0005654 Component Nucleoplasm IDA
GO:0005737 Component Cytoplasm IEA
GO:0005829 Component Cytosol IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
114212 1487 ENSG00000105519
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q13938
Protein name Calcyphosin (Calcyphosine)
Protein function Calcium-binding protein. May play a role in cellular signaling events (Potential).
PDB 3E3R
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13202 EF-hand_5 153 → 172 EF hand Domain
PF13499 EF-hand_7 181 → 253 EF-hand domain pair Domain
Sequence
MQCHRDLALSQALWGWQLSKQSGWAHPSLPHSPLPSTVHSCSWAPPHLQRHLPLATVSPG
TTQLTQGPAGRTLGQTQASCPEPRPSMDAVDATMEKLRAQCLSRGASGIQGLARFFRQLD
RDGSRSLDADEFRQGLAKLGLVLDQAEAEGVCRKWDRNGSGTLDLEEFLRALRPPMSQAR
EAVIAAAFAKLDRSGDGVVTVDDLRGVYSGRAHPKVRSGEWTEDEVLRRFLDNFDSSEKD
GQVTLAEFQDYYS
GVSASMNTDEEFVAMMTSAWQL
Sequence length 275
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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 Reference Evidence Score
CAPS-related disorder Likely benign; Benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations