CAPS2 (calcyphosine 2)

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Gene Gene information from NCBI Gene database.
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Entrez ID 84698
Gene name Calcyphosine 2
Gene symbol CAPS2
Synonyms (NCBI Gene)
UG0636c06
Chromosome 12
Chromosome location 12q21.1-q21.2
Summary Calcyphosine-2 is a calcium-binding protein with 2 EF-hand motifs (Wang et al., 2002 [PubMed 11846421]).[supplied by OMIM, Mar 2008]
miRNA miRNA information provided by mirtarbase database.
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miRTarBase ID miRNA Experiments Reference
MIRT017525 hsa-miR-335-5p Microarray 18185580
MIRT721246 hsa-miR-518e-3p HITS-CLIP 19536157
MIRT721245 hsa-miR-4315 HITS-CLIP 19536157
MIRT721244 hsa-miR-3160-5p HITS-CLIP 19536157
MIRT721243 hsa-miR-4503 HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
2
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GO ID Ontology Definition Evidence Reference
GO:0005509 Function Calcium ion binding IEA
GO:0046872 Function Metal ion binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
607724 16471 ENSG00000180881
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.
Q9BXY5
Protein name Calcyphosin-2 (Calcyphosine-2)
Family and domains
Tissue specificity TISSUE SPECIFICITY: Abundantly expressed in many tissues. Expressed in brain, colon, heart, kidney, liver, lung, liver, pancreas, placenta, skeletal muscle, testis and thymus. Highest expression in colon, testis, lung, placenta and brain. {ECO:0000269|Pub
Sequence 
MGNSFCYTAVYCMINTGTQMDLEVKGVAATSRSQIQPFFGRKKPLQQRWTSESWTNQNSC
PPVVPRLDLGSLVDSDDEDNFSYIPLSTANLPNSSSTLGWVTPCQTPYTQYHLNKLDQNI
IPENLPAPTDKCKLKYQQCKTEIKEGYKQYSQRNAENTKSNVTHKQSPRNKIDEKCVQDE
EANTDDLTTLDRKAILQQGYADNSCDKQQRARKLDAEIVAAEKKKQIVAEQVMIDHLSRA
VISDPEQNLAIEQKESDHILPDSKMTPLRFRKRTLHETKIRTHSTLTENVLSHKLQFDGR
IVSRNGRDACRELIGFFFTHDQSLTIYEYRQFGKNRTNVLPFIQKSIYSHQCGRRKGKQY
RLGDFYVGATLTFLSSDHLSLPESIKENTLLKLRITNIDQIALDSLKTASMEQEDDIIIQ
ETNDRLVFKAIQDVLKEKLHKRGVRILTGLGKYFQQLDKEGNGLLDKADFKQALKVFHLE
VSEKDFESAWLILNDNGNGKVDYGEFKRGIIGEMNEYRKSYVRKAFMKLDFNKSGSVPII
NIRKCYCAKKHSQVISG
Sequence length 557
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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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)
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
INTELLECTUAL DISABILITY — Disgenet, GenCC
Disgenet, GenCC 		—
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations

No strongly related genes found yet for CAPS2.

No additional diseases found yet through genes similar to CAPS2.