Gene Gene information from NCBI Gene database.
Entrez ID 51440
Gene name Hippocalcin like 4
Gene symbol HPCAL4
Synonyms (NCBI Gene)
HLP4
Chromosome 1
Chromosome location 1p34.2
Summary The protein encoded by this gene is highly similar to human hippocalcin protein and hippocalcin like-1 protein. It also has similarity to rat neural visinin-like Ca2+-binding protein-type 1 and 2 proteins. This encoded protein may be involved in the calci
miRNA miRNA information provided by mirtarbase database.
127
miRTarBase ID miRNA Experiments Reference
MIRT037510 hsa-miR-744-5p CLASH 23622248
MIRT1054038 hsa-miR-1226 CLIP-seq
MIRT1054039 hsa-miR-1264 CLIP-seq
MIRT1054040 hsa-miR-1266 CLIP-seq
MIRT1054041 hsa-miR-129-3p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
10
GO ID Ontology Definition Evidence Reference
GO:0005246 Function Calcium channel regulator activity IEA
GO:0005509 Function Calcium ion binding IBA
GO:0005509 Function Calcium ion binding IEA
GO:0005509 Function Calcium ion binding TAS 10520747
GO:0005515 Function Protein binding IPI 16189514, 25416956, 25519916, 28514442, 32296183, 32814053, 33961781
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
619211 18212 ENSG00000116983
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UM19
Protein name Hippocalcin-like protein 4 (HLP4)
Protein function May be involved in the calcium-dependent regulation of rhodopsin phosphorylation.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00036 EF-hand_1 64 92 EF hand Domain
PF13499 EF-hand_7 98 176 EF-hand domain pair Domain
Sequence
MGKTNSKLAPEVLEDLVQNTEFSEQELKQWYKGFLKDCPSGILNLEEFQQLYIKFFPYGD
ASKFAQHAFRTFDKNGDGTIDFREFICALSVTSRGSFEQKLNWAFEMYDLDGDGRITRLE
MLEIIEAIYKMVGTVIMMRMNQDGLTPQQRVDKIFKKMDQDKDDQITLEEFKEAAK
SDPS
IVLLLQCDMQK
Sequence length 191
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
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
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GLIOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Lymphoma Large B Cell Diffuse Associate 31485671
★☆☆☆☆
Found in Text Mining only
Neoplasms Associate 23825647
★☆☆☆☆
Found in Text Mining only