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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Vascular endothelial growth factor (VEGF) inhibitor response association rs11888704 RCV002254037
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 40179422
Alzheimer Disease Associate 21059989
Carcinoma Hepatocellular Associate 36617552
Carcinoma Renal Cell Associate 35718636
Carcinoma Squamous Cell Associate 40179422
Cholangiocarcinoma Associate 35645147
Congenital central hypoventilation syndrome Associate 23873030
Diabetes Mellitus Associate 36360783
Idiopathic Pulmonary Fibrosis Associate 37783761
Keratoconus Associate 38064228