HRC (histidine rich calcium binding protein)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 3270
Gene name Histidine rich calcium binding protein
Gene symbol HRC
Synonyms (NCBI Gene)
-
Chromosome 19
Chromosome location 19q13.33
Summary This gene encodes a luminal sarcoplasmic reticulum protein identified by its ability to bind low-density lipoprotein with high affinity. The protein interacts with the cytoplasmic domain of triadin, the main transmembrane protein of the junctional sarcopl
miRNA miRNA information provided by mirtarbase database.
8
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (8)
miRTarBase ID miRNA Experiments Reference
MIRT017575 hsa-miR-335-5p Microarray 18185580
MIRT2012423 hsa-miR-1207-5p CLIP-seq
MIRT2012424 hsa-miR-1909 CLIP-seq
MIRT2012425 hsa-miR-3202 CLIP-seq
MIRT2012426 hsa-miR-3714 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
24
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (24)
GO ID Ontology Definition Evidence Reference
GO:0002027 Process Regulation of heart rate IMP 18617481
GO:0005509 Function Calcium ion binding IDA 24125847
GO:0005509 Function Calcium ion binding IEA
GO:0005509 Function Calcium ion binding TAS 2037293
GO:0005515 Function Protein binding IPI 17526652, 17924338, 24125847, 24805197, 32296183
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
142705 5178 ENSG00000130528
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P23327
Protein name Sarcoplasmic reticulum histidine-rich calcium-binding protein
Protein function May play a role in the regulation of calcium sequestration or release in the SR of skeletal and cardiac muscle.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10529 Hist_rich_Ca-bd 214 → 228 Histidine-rich Calcium-binding repeat region Repeat
PF10529 Hist_rich_Ca-bd 238 → 253 Histidine-rich Calcium-binding repeat region Repeat
PF10529 Hist_rich_Ca-bd 271 → 285 Histidine-rich Calcium-binding repeat region Repeat
PF10529 Hist_rich_Ca-bd 295 → 309 Histidine-rich Calcium-binding repeat region Repeat
PF10529 Hist_rich_Ca-bd 319 → 333 Histidine-rich Calcium-binding repeat region Repeat
PF10529 Hist_rich_Ca-bd 343 → 358 Histidine-rich Calcium-binding repeat region Repeat
Sequence 
MGHHRPWLHASVLWAGVASLLLPPAMTQQLRGDGLGFRNRNNSTGVAGLSEEASAELRHH
LHSPRDHPDENKDVSTENGHHFWSHPDREKEDEDVSKEYGHLLPGHRSQDHKVGDEGVSG
EEVFAEHGGQARGHRGHGSEDTEDSAEHRHHLPSHRSHSHQDEDEDEVVSSEHHHHILRH
GHRGHDGEDDEGEEEEEEEEEEEEASTEYGHQAHRHRGHGSEEDEDVSDGHHHHGPSHRH
QGHEEDDDDDDDDDDDDDDDDVSIEYRHQAHRHQGHGIEEDEDVSDGHHHRDPSHRHRSH
EEDDNDDDDVSTEYGHQAHRHQDHRKEEVEAVSGEHHHHVPDHRHQGHRDEEEDEDVSTE
RWHQGPQHVHHGLVDEEEEEEEITVQFGHYVASHQPRGHKSDEEDFQDEYKTEVPHHHHH
RVPREEDEEVSAELGHQAPSHRQSHQDEETGHGQRGSIKEMSHHPPGHTVVKDRSHLRKD
DSEEEKEKEEDPGSHEEDDESSEQGEKGTHHGSRDQEDEEDEEEGHGLSLNQEEEEEEDK
EEEEEEEDEERREERAEVGAPLSPDHSEEEEEEEEGLEEDEPRFTIIPNPLDRREEAGGA
SSEEESGEDTGPQDAQEYGNYQPGSLCGYCSFCNRCTECESCHCDEENMGEHCDQCQHCQ
FCYLCPLVCETVCAPGSYVDYFSSSLYQALADMLETPEP
Sequence length 699
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Calcium signaling pathway
Cardiac muscle contraction 		  Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
Post-translational protein phosphorylation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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)
Show/Hide Unknown Diseases (6)
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
AUTOIMMUNE THROMBOCYTOPENIC PURPURA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BODY WEIGHT — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BRUGADA SYNDROME — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIOMEGALY — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (36)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Arrhythmias Cardiac Cardiac arrhythmias Pubtator 18617481, 37958923 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial Fibrillation BEFREE 30840693
★★★★★
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial fibrillation Pubtator 30840693 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Attention deficit hyperactivity disorder Attention Deficit Hyperactivity Disorder BEFREE 31442562
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 34400882 Stimulate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma, Ovarian Epithelial Ovarian Epithelial carcinoma BEFREE 29506471
★★★★★
★☆☆☆☆
Found in Text Mining only
Cardiomyopathy Dilated Dilated cardiomyopathy Pubtator 18617481 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Cardiomyopathy, Dilated Cardiomyopathy BEFREE 21742996
★★★★★
★☆☆☆☆
Found in Text Mining only
Cardiomyopathy, Familial Idiopathic Cardiomyopathy BEFREE 18617481, 28859293
★★★★★
★☆☆☆☆
Found in Text Mining only
Congestive heart failure Congestive Heart Failure BEFREE 21742996, 30319456
★★★★★
★☆☆☆☆
Found in Text Mining only