HRC Gene (Protein Coding)

Histidine Rich Calcium Binding Protein

GC19M049151
GIFtS:
36
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 sarcoplasmic reticulum (SR) of skeletal muscle. The protein functions in the regulation of releasable calcium into the SR. [provided... See more...

Aliases for HRC Gene

Aliases for HRC Gene

  • Histidine Rich Calcium Binding Protein 2 3 5
  • Sarcoplasmic Reticulum Histidine-Rich Calcium-Binding Protein 3 4
  • Histidine-Rich Calcium-Binding Protein 2
  • MGC133236 2
  • HRC 5
  • HCP 4

External Ids for HRC Gene

Previous GeneCards Identifiers for HRC Gene

  • GC19M050312
  • GC19M050022
  • GC19M054330
  • GC19M054346
  • GC19M049654
  • GC19M046030

Summaries for HRC Gene

Entrez Gene Summary for HRC Gene

  • 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 sarcoplasmic reticulum (SR) of skeletal muscle. The protein functions in the regulation of releasable calcium into the SR. [provided by RefSeq, Sep 2008]

GeneCards Summary for HRC Gene

HRC (Histidine Rich Calcium Binding Protein) is a Protein Coding gene. Diseases associated with HRC include Progressive Familial Heart Block, Type Ib and Progressive Familial Heart Block. Among its related pathways are Cardiac muscle contraction and Calcium signaling pathway. Gene Ontology (GO) annotations related to this gene include calcium ion binding and ATPase binding.

UniProtKB/Swiss-Prot Summary for HRC Gene

  • May play a role in the regulation of calcium sequestration or release in the SR of skeletal and cardiac muscle.

Gene Wiki entry for HRC Gene

Additional gene information for HRC Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HRC Gene

Genomics for HRC Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for HRC Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HRC on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HRC

Top Transcription factor binding sites by QIAGEN in the HRC gene promoter:
  • AML1a
  • AP-4
  • AREB6
  • Arnt
  • Bach2
  • MAZR
  • MRF-2
  • p300
  • RFX1
  • ZID

Genomic Locations for HRC Gene

Genomic Locations for HRC Gene
chr19:49,151,198-49,155,464
(GRCh38/hg38)
Size:
4,267 bases
Orientation:
Minus strand
chr19:49,654,455-49,658,681
(GRCh37/hg19)
Size:
4,227 bases
Orientation:
Minus strand

Genomic View for HRC Gene

Genes around HRC on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HRC Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HRC Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for HRC Gene

Proteins for HRC Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for HRC Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P23327-SRCH_HUMAN
    Recommended name:
    Sarcoplasmic reticulum histidine-rich calcium-binding protein
    Protein Accession:
    P23327
    Secondary Accessions:
    • Q504Y6

    Protein attributes for HRC Gene

    Size:
    699 amino acids
    Molecular mass:
    80244 Da
    Quaternary structure:
    No Data Available

neXtProt entry for HRC Gene

Protein Expression for HRC Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for HRC Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for HRC Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for HRC Gene

Domains & Families for HRC Gene

Gene Families for HRC Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for HRC Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for HRC Gene

GenScript: Design optimal peptide antigens:
  • Histidine rich calcium binding protein (B5TMG5_HUMAN)
  • Histidine-rich calcium-binding protein, (Q2M1I0_HUMAN)
  • Sarcoplasmic reticulum histidine-rich calcium-binding protein (SRCH_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P23327

UniProtKB/Swiss-Prot:

SRCH_HUMAN :
  • Belongs to the HRC family.
Family:
  • Belongs to the HRC family.
genes like me logo Genes that share domains with HRC: view

Function for HRC Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for HRC Gene

UniProtKB/Swiss-Prot Function:
May play a role in the regulation of calcium sequestration or release in the SR of skeletal and cardiac muscle.
GENATLAS Biochemistry:
histidine-rich calcium binding protein (sarcoplasmic reticulum,luminal)

Phenotypes From GWAS Catalog for HRC Gene

Gene Ontology (GO) - Molecular Function for HRC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA,IDA 24125847
GO:0005515 protein binding IPI 17526652
GO:0044325 ion channel binding IPI 17526652
GO:0051117 ATPase binding IPI 17526652
genes like me logo Genes that share ontologies with HRC: view
genes like me logo Genes that share phenotypes with HRC: view

Animal Model Products

CRISPR Products

miRNA for HRC Gene

miRTarBase miRNAs that target HRC

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HRC

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for HRC Gene

Localization for HRC Gene

Subcellular locations from UniProtKB/Swiss-Prot for HRC Gene

Sarcoplasmic reticulum lumen.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HRC gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 3
plasma membrane 2
cytoskeleton 2
mitochondrion 2
nucleus 2
cytosol 2
lysosome 2
peroxisome 1
endosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for HRC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005788 endoplasmic reticulum lumen TAS --
GO:0016529 sarcoplasmic reticulum IEA --
GO:0030018 Z disc IDA 24125847
GO:0033017 sarcoplasmic reticulum membrane IEA --
genes like me logo Genes that share ontologies with HRC: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for HRC Gene

Pathways & Interactions for HRC Gene

PathCards logo

SuperPathways for HRC Gene

genes like me logo Genes that share pathways with HRC: view

Pathways by source for HRC Gene

Gene Ontology (GO) - Biological Process for HRC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002027 regulation of heart rate IMP 18617481
GO:0006936 muscle contraction TAS 2037293
GO:0008016 regulation of heart contraction IEA --
GO:0010460 positive regulation of heart rate IGI 24125847
GO:0010880 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum IGI 24125847
genes like me logo Genes that share ontologies with HRC: view

No data available for SIGNOR curated interactions for HRC Gene

Drugs & Compounds for HRC Gene

Products:

  1. Drug

(2) Drugs for HRC Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Nutra 6556
genes like me logo Genes that share compounds with HRC: view

Transcripts for HRC Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for HRC Gene

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HRC

Alternative Splicing Database (ASD) splice patterns (SP) for HRC Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6
SP1: -
SP2:

Relevant External Links for HRC Gene

GeneLoc Exon Structure for
HRC

Expression for HRC Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for HRC Gene

mRNA expression in normal human tissues for HRC Gene
mRNA expression by BioGPS for HRC GenemRNA expression by GTEx for HRC Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HRC Gene

This gene is overexpressed in Heart - Left Ventricle (x24.9), Heart - Atrial Appendage (x12.0), and Muscle - Skeletal (x10.9).

Protein differential expression in normal tissues from HIPED for HRC Gene

This gene is overexpressed in Heart (45.5) and Fetal heart (14.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for HRC Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HRC

SOURCE GeneReport for Unigene cluster for HRC Gene:

Hs.436885

Evidence on tissue expression from TISSUES for HRC Gene

  • Muscle(4.7)
  • Liver(4.4)
  • Heart(3.8)
  • Nervous system(2.5)
  • Skin(2.4)
  • Kidney(2.2)
  • Blood(2.2)
genes like me logo Genes that share expression patterns with HRC: view

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for HRC Gene

Orthologs for HRC Gene

This gene was present in the common ancestor of chordates.

Orthologs for HRC Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia HRC 30 31
  • 96.59 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia HRC 30 31
  • 79.14 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia HRC 31
  • 58 (a)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Hrc 31
  • 48 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia HRC 31
  • 41 (a)
 OneToOne
Zebrafish
(Danio rerio)
 Actinopterygii HRC 31
  • 30 (a)
 OneToOne
Species where no ortholog for HRC was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for HRC Gene

ENSEMBL:
Gene Tree for HRC (if available)
TreeFam:
Gene Tree for HRC (if available)
Aminode:
Evolutionary constrained regions (ECRs) for HRC: view image

Paralogs for HRC Gene

No data available for Paralogs for HRC Gene

Variants for HRC Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HRC Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
709798 Likely Benign: not provided 49,151,304(-) C/G MISSENSE_VARIANT
754518 Likely Benign: not provided 49,154,588(-) C/T MISSENSE_VARIANT
769030 Benign: not provided 49,153,431(-) C/T MISSENSE_VARIANT
rs172149856 Conflicting Interpretations: Progressive familial heart block, type 1A; Progressive familial heart block type IB; Brugada syndrome; not specified; not provided 49,188,641(-) G/A MISSENSE_VARIANT
rs201907325 Conflicting Interpretations: Progressive familial heart block, type 1A; Progressive familial heart block type IB; Brugada syndrome; not specified; not provided 49,182,608(-) G/A MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT

Additional dbSNP identifiers (rs#s) for HRC Gene

Structural Variations from Database of Genomic Variants (DGV) for HRC Gene

Variant ID Type Subtype PubMed ID
dgv3621n100 CNV gain 25217958
dgv667e214 CNV gain 21293372
esv2760526 CNV gain 21179565
esv3644616 CNV gain 21293372
nsv1060108 CNV gain 25217958
nsv470149 CNV loss 18288195
nsv524235 CNV gain 19592680
nsv833859 CNV loss 17160897
nsv9739 CNV gain+loss 18304495

Variation tolerance for HRC Gene

Residual Variation Intolerance Score: 92.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.86; 91.80% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HRC Gene

Human Gene Mutation Database (HGMD)
HRC
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HRC

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HRC Gene

Disorders for HRC Gene

MalaCards: The human disease database

(10) MalaCards diseases for HRC Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
progressive familial heart block, type ib
  • pfhb1b
progressive familial heart block
  • pccd
nipah virus encephalitis
early yaws
  • bone and joint lesions due to yaws
senile entropion
  • involutional entropion
- elite association - COSMIC cancer census association via MalaCards
Search HRC in MalaCards View complete list of genes associated with diseases

Additional Disease Information for HRC

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with HRC: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HRC Gene

Publications for HRC Gene

  1. cDNA and genomic cloning of HRC, a human sarcoplasmic reticulum protein, and localization of the gene to human chromosome 19 and mouse chromosome 7. (PMID: 2037293) Hofmann SL … Francke U (Genomics 1991) 2 3 4 23
  2. The Ser96Ala variant in histidine-rich calcium-binding protein is associated with life-threatening ventricular arrhythmias in idiopathic dilated cardiomyopathy. (PMID: 18617481) Arvanitis DA … Kranias EG (European heart journal 2008) 3 23 41
  3. A novel dominant mutation in plakoglobin causes arrhythmogenic right ventricular cardiomyopathy. (PMID: 17924338) Asimaki A … McKenna WJ (American journal of human genetics 2007) 3 23
  4. Histidine-rich Ca-binding protein interacts with sarcoplasmic reticulum Ca-ATPase. (PMID: 17526652) Arvanitis DA … Kranias EG (American journal of physiology. Heart and circulatory physiology 2007) 3 23
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

ExternalLinks

View latest publications for HRC gene in Mastermind

Products for HRC Gene

  • Signalway ELISA kits for HRC

Sources for HRC Gene