Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	133690
Gene name	Calcyphosine like
Gene symbol	CAPSL
Synonyms (NCBI Gene)	-
Chromosome	5
Chromosome location	5p13.2

GO ID	Ontology	Definition	Evidence
GO:0005509	Function	Calcium ion binding	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0043226	Component	Organelle	IEA
GO:0046872	Function	Metal ion binding	IEA

MIM	HGNC	e!Ensembl
618799	28375	ENSG00000152611

Q8WWF8

Protein name

Calcyphosin-like protein

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13499	EF-hand_7	42 → 104	EF-hand domain pair	Domain
PF13499	EF-hand_7	113 → 186	EF-hand domain pair	Domain

Sequence

MAGTARHDREMAIQAKKKLTTATDPIERLRLQCLARGSAGIKGLGRVFRIMDDDNNRTLD
FKEFMKGLNDYAVVMEKEEVEELFRRFDKDGNGTIDFNEFLLTLRPPMSRARKEVIMQAF
RKLDKTGDGVITIEDLREVYNAKHHPKYQNGEWSEEQVFRKFLDNFDSPYDKDGLVTPEE
FMNYYAGVSASIDTDVYFIIMMRTAWKL

Sequence length

208

Interactions

View interactions

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)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
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. Show/Hide Unknown Diseases (13)
ANKYLOSING SPONDYLITIS	—	GWAS catalog	23749187	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	30929738, 31361310, 34103634	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA	—	GWAS catalog	26482879, 37794016, 39024449	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
B-CELL ACUTE LYMPHOBLASTIC LEUKEMIA	—	GWAS catalog	38616254	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BILIARY LIVER CIRRHOSIS	—	GWAS catalog	34033851	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DERMATITIS	—	GWAS catalog	39024449	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY BILIARY CIRRHOSIS	—	GWAS catalog	22936693, 22961000, 34033851, 38616254	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESPIRATORY SYSTEM DISEASE	—	GWAS catalog	38965376	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHINITIS	—	GWAS catalog	36653354	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	33536424	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	17554260, 25751624, 39749473	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	17554260, 25751624, 39749473	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	18563381, 18927125	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	18563381, 18927125, 19956106		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lipomatosis, Multiple Symmetrical	Lipomatosis	BEFREE	31186450		★★★★★ ★☆☆☆☆ Found in Text Mining only

CAPSL (calcyphosine like)

Save This Analysis