Gene Gene information from NCBI Gene database.
Entrez ID 3241
Gene name Hippocalcin like 1
Gene symbol HPCAL1
Synonyms (NCBI Gene)
BDR1HLP2VILIP-3
Chromosome 2
Chromosome location 2p25.1
Summary The protein encoded by this gene is a member of neuron-specific calcium-binding proteins family found in the retina and brain. It is highly similar to human hippocalcin protein and nearly identical to the rat and mouse hippocalcin like-1 proteins. It may
miRNA miRNA information provided by mirtarbase database.
184
miRTarBase ID miRNA Experiments Reference
MIRT025893 hsa-miR-7-5p Microarray 19073608
MIRT487669 hsa-miR-2278 PAR-CLIP 20371350
MIRT487668 hsa-miR-6165 PAR-CLIP 20371350
MIRT487667 hsa-miR-4747-3p PAR-CLIP 20371350
MIRT487662 hsa-miR-873-5p PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
7
GO ID Ontology Definition Evidence Reference
GO:0005509 Function Calcium ion binding IBA
GO:0005509 Function Calcium ion binding IEA
GO:0005509 Function Calcium ion binding TAS 8038222
GO:0005515 Function Protein binding IPI 16189514, 16713569, 25416956, 25519916, 28514442, 32296183, 32814053, 33961781
GO:0009966 Process Regulation of signal transduction IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600207 5145 ENSG00000115756
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P37235
Protein name Hippocalcin-like protein 1 (Calcium-binding protein BDR-1) (HLP2) (Visinin-like protein 3) (VILIP-3)
Protein function May be involved in the calcium-dependent regulation of rhodopsin phosphorylation.
PDB 5T7C
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13833 EF-hand_8 39 90 EF-hand domain pair Domain
PF13499 EF-hand_7 98 174 EF-hand domain pair Domain
PF00036 EF-hand_1 148 176 EF hand Domain
Sequence
Sequence length 193
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
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
CATARACT 13 WITH ADULT I PHENOTYPE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CEREBRAL AMYLOID ANGIOPATHY GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DENTAL CARIES GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alzheimer Disease Alzheimer disease Pubtator 21059989 Associate
★☆☆☆☆
Found in Text Mining only
Biliary Atresia Biliary Atresia GWASDB_DG 20460270
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 36617552 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 35718636 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Squamous Cell Squamous cell carcinoma Pubtator 40179422 Associate
★☆☆☆☆
Found in Text Mining only
Cholangiocarcinoma Cholangiocarcinoma Pubtator 35645147 Associate
★☆☆☆☆
Found in Text Mining only
Congenital central hypoventilation Congenital Central Hypoventilation BEFREE 23873030
★☆☆☆☆
Found in Text Mining only
Congenital central hypoventilation syndrome Congenital central hypoventilation syndrome Pubtator 23873030 Associate
★☆☆☆☆
Found in Text Mining only
Coronary heart disease Coronary Heart Disease BEFREE 31424985
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Diabetes mellitus Pubtator 36360783 Associate
★☆☆☆☆
Found in Text Mining only