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Aliases for HRC Gene

Aliases for HRC Gene

  • Histidine Rich Calcium Binding Protein 2 3 5
  • Histidine-Rich Calcium-Binding Protein 2
  • 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 Mixed Glioma. GO annotations related to this gene include calcium ion binding and ATPase binding.

UniProtKB/Swiss-Prot 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HRC Gene

Genomics for HRC Gene

Regulatory Elements for HRC Gene

Enhancers for HRC Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19F049154 0.6 ENCODE 8.2 -1.5 -1508 4.8 HDGF PKNOX1 CREB3L1 ZFP64 ARID4B SIN3A FEZF1 ZNF2 ZNF143 ZNF263 GRWD1 KDELR1 TEAD2 PLEKHA4 TRPM4 PRR12 ENSG00000268157 RPS11 ENSG00000197813 NTN5
GH19F048612 0.2 ENCODE 4.6 +538.7 538667 7.8 CREB3L1 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC TBX21 KDELR1 GRWD1 PRR12 SNORD35A ENSG00000269321 ALDH16A1 SNORD35B TEAD2 RPS11 RPL18
GH19F049153 0.2 Ensembl 0.8 +2.3 2329 0.2 KLF1 KLF8 PPFIA3 HRC
GH19F049155 0.7 Ensembl 0.8 +1.9 1929 0.2 ZNF263 NFXL1 HRC PPFIA3
GH19F049145 0.7 ENCODE 0.4 +9.0 9048 1.6 ATF1 ARID4B SIN3A ZNF121 GLIS2 ZNF143 SP3 REST SREBF1 MBD2 PPFIA3 TEAD2 PLEKHA4 KDELR1 ENSG00000268157 PRR12 C19orf73 LIN7B ENSG00000197813 RRAS
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around HRC on UCSC Golden Path with GeneCards custom track

Genomic Location for HRC Gene

Chromosome:
19
Start:
49,151,198 bp from pter
End:
49,155,429 bp from pter
Size:
4,232 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 StructureGene Density

RefSeq DNA sequence for HRC Gene

Proteins for HRC Gene

  • 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

Post-translational modifications for HRC Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for HRC Gene

No data available for DME Specific Peptides for HRC Gene

Domains & Families for HRC Gene

Protein Domains for HRC Gene

InterPro:
ProtoNet:

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

No data available for Gene Families for HRC Gene

Function for HRC Gene

Molecular function for HRC Gene

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

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

miRNA for HRC Gene

miRTarBase miRNAs that target HRC

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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
Jensen Localization Image for HRC Gene COMPARTMENTS Subcellular localization image for HRC gene
Compartment Confidence
endoplasmic reticulum 5
cytosol 4
extracellular 2
lysosome 1
mitochondrion 1
peroxisome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for HRC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016529 sarcoplasmic reticulum IEA --
GO:0030018 Z disc IDA 24125847
GO:0033017 sarcoplasmic reticulum membrane IEA --
GO:0033018 sarcoplasmic reticulum lumen IEA,TAS 11504710
genes like me logo Genes that share ontologies with HRC: view

Pathways & Interactions for HRC Gene

SuperPathways for HRC Gene

No Data Available

Interacting Proteins for HRC Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000252825%0d%0a9606.ENSP00000381240%0d%0a
Selected Interacting proteins: P23327-SRCH_HUMAN ENSP00000252825 for HRC Gene via IID UniProtKB STRING

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 Pathways by source and SIGNOR curated interactions for HRC Gene

Drugs & Compounds for HRC Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0
genes like me logo Genes that share compounds with HRC: view

Transcripts for HRC Gene

Unigene Clusters for HRC Gene

Histidine rich calcium binding protein:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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
ECgene alternative splicing isoforms for
HRC

Expression for HRC Gene

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

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



NURSA nuclear receptor signaling pathways regulating expression of HRC Gene:

HRC

SOURCE GeneReport for Unigene cluster for HRC Gene:

Hs.436885
genes like me logo Genes that share expression patterns with HRC: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt 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 34 35
  • 96.59 (n)
cow
(Bos Taurus)
Mammalia HRC 34 35
  • 79.14 (n)
dog
(Canis familiaris)
Mammalia HRC 35
  • 58 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hrc 35
  • 48 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HRC 35
  • 41 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii HRC 35
  • 30 (a)
OneToOne
Species where no ortholog for HRC was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for HRC Gene

No data available for Paralogs for HRC Gene

Variants for HRC Gene

Sequence variations from dbSNP and Humsavar for HRC Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs111164106 -- 49,156,775(+) CTCTC(C/T)CTGGG upstream-variant-2KB
rs111169061 -- 49,156,858(+) CCCCC(C/T)CTCTC upstream-variant-2KB
rs111212191 -- 49,157,071(+) TGGGT(C/G)TCTGT upstream-variant-2KB
rs111458305 -- 49,151,834(+) CTCCA(C/G)CTGGT intron-variant, downstream-variant-500B
rs111621046 -- 49,152,016(+) GCAGA(A/C/T)CGTTT downstream-variant-500B, reference, missense

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)

Relevant External Links for HRC Gene

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

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

Disorders for HRC Gene

MalaCards: The human disease database

(1) MalaCards diseases for HRC Gene - From: DISEASES

Disorder Aliases PubMed IDs
mixed glioma
  • mixed gliomas
- elite association - COSMIC cancer census association via MalaCards
Search HRC in MalaCards View complete list of genes associated with diseases

Relevant External Links for HRC

Genetic Association Database (GAD)
HRC
Human Genome Epidemiology (HuGE) Navigator
HRC
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HRC
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 S.L. … Francke U. (Genomics 1991) 2 3 4 22 64
  2. The Ser96Ala variant in histidine-rich calcium-binding protein is associated with life-threatening ventricular arrhythmias in idiopathic dilated cardiomyopathy. (PMID: 18617481) Arvanitis D.A. … Kranias E.G. (Eur. Heart J. 2008) 3 22 46 64
  3. Histidine-rich Ca-binding protein interacts with sarcoplasmic reticulum Ca-ATPase. (PMID: 17526652) Arvanitis D.A. … Kranias E.G. (Am. J. Physiol. Heart Circ. Physiol. 2007) 3 22 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. Regulation of myocardial function by histidine-rich, calcium-binding protein. (PMID: 15191886) Fan G.C. … Kranias E.G. (Am. J. Physiol. Heart Circ. Physiol. 2004) 3 22 64

Products for HRC Gene

Sources for HRC Gene

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