The protein encoded by this gene is a calcium-binding protein located in the lumen of the ER. The protein contains six conserved regions with similarity to a high affinity Ca(+2)-binding motif, the EF-hand. This gene maps to the same region as type 4 Bardet-Biedl syndrome, suggesting a possible causative role for this gene in the disorder. Alternatively spliced transcript varia... See more...

Aliases for RCN2 Gene

Aliases for RCN2 Gene

  • Reticulocalbin 2 2 3 5
  • ERC55 2 3 4
  • E6BP 2 3 4
  • Reticulocalbin 2, EF-Hand Calcium Binding Domain (Endoplasmic Reticulum Calcium-Binding Protein, 55kD) 2 3
  • Calcium-Binding Protein ERC-55 3 4
  • E6-Binding Protein 3 4
  • Reticulocalbin-2 3 4
  • ERC-55 2 3
  • TCBP49 2 3
  • Reticulocalbin 2, EF-Hand Calcium Binding Domain 2
  • RCN2 5

External Ids for RCN2 Gene

Previous GeneCards Identifiers for RCN2 Gene

  • GC15P073112
  • GC15P070314
  • GC15P074799
  • GC15P074939
  • GC15P075011
  • GC15P077223
  • GC15P053980

Summaries for RCN2 Gene

Entrez Gene Summary for RCN2 Gene

  • The protein encoded by this gene is a calcium-binding protein located in the lumen of the ER. The protein contains six conserved regions with similarity to a high affinity Ca(+2)-binding motif, the EF-hand. This gene maps to the same region as type 4 Bardet-Biedl syndrome, suggesting a possible causative role for this gene in the disorder. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2012]

GeneCards Summary for RCN2 Gene

RCN2 (Reticulocalbin 2) is a Protein Coding gene. Diseases associated with RCN2 include Anogenital Venereal Wart and Bardet-Biedl Syndrome. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is CALU.

UniProtKB/Swiss-Prot Summary for RCN2 Gene

Gene Wiki entry for RCN2 Gene

Additional gene information for RCN2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RCN2 Gene

Genomics for RCN2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RCN2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH15J076930 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 605.3 -0.1 -128 3.2 SP1 PRDM10 ZNF629 ZNF692 POLR2A BACH1 FOS LARP7 PRDM1 ZNF143 RCN2 SCAPER ENSG00000269951 ENSG00000261244 piR-45725
GH15J076931 Enhancer 0.3 Ensembl 600.7 -1.8 -1837 0.2 MYNN CBFA2T3 RCN2 piR-45725 SCAPER
GH15J076335 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 5.2 -592.3 -592308 8.8 CEBPG HNRNPL CREB1 GATAD2A ATF7 PRDM10 ZNF629 TFE3 ZNF512 LEF1 ISL2 SCAPER FBXO22 MAN2C1 SIN3A ENSG00000260274 ETFA NEIL1 DNM1P35 SNUPN
GH15J076902 Promoter/Enhancer 1.8 Ensembl ENCODE CraniofacialAtlas 4.5 -27.3 -27296 4 RNF2 CREB1 CTCF PRDM10 ZNF629 TFE3 IKZF1 ZNF692 POLR2A ZNF143 SCAPER HMG20A RCN2 piR-49423-092 ISL2
GH15J077749 Enhancer 0.7 Ensembl 11.3 +816.6 816563 2.6 ZIC2 NR2C1 POLR2A MNT RBAK ZNF140 SP2 EGR1 ZNF623 ZBTB11 ENSG00000259562 IREB2 WDR61 TBC1D2B ENSG00000260988 ENSG00000259322 RCN2 ENSG00000259213 ENSG00000280359 lnc-HMG20A-5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RCN2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RCN2

Top Transcription factor binding sites by QIAGEN in the RCN2 gene promoter:
  • AREB6
  • FOXI1
  • FOXL1
  • HFH-3
  • MAZR
  • POU2F1
  • POU2F1a
  • Sp1
  • STAT5A
  • YY1

Genomic Locations for RCN2 Gene

Genomic Locations for RCN2 Gene
chr15:76,931,738-76,954,393
(GRCh38/hg38)
Size:
22,656 bases
Orientation:
Plus strand
chr15:77,223,960-77,242,601
(GRCh37/hg19)
Size:
18,642 bases
Orientation:
Plus strand

Genomic View for RCN2 Gene

Genes around RCN2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RCN2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RCN2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RCN2 Gene

Proteins for RCN2 Gene

  • Protein details for RCN2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14257-RCN2_HUMAN
    Recommended name:
    Reticulocalbin-2
    Protein Accession:
    Q14257
    Secondary Accessions:
    • A8MTG6
    • F8WCY5
    • Q53XN8

    Protein attributes for RCN2 Gene

    Size:
    317 amino acids
    Molecular mass:
    36876 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for RCN2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RCN2 Gene

Post-translational modifications for RCN2 Gene

  • Ubiquitination at Lys56, Lys64, Lys103, and Lys232
  • Modification sites at PhosphoSitePlus

Other Protein References for RCN2 Gene

No data available for DME Specific Peptides for RCN2 Gene

Domains & Families for RCN2 Gene

Gene Families for RCN2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for RCN2 Gene

Suggested Antigen Peptide Sequences for RCN2 Gene

GenScript: Design optimal peptide antigens:
  • E6-binding protein (RCN2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q14257

UniProtKB/Swiss-Prot:

RCN2_HUMAN :
  • Belongs to the CREC family.
Family:
  • Belongs to the CREC family.
genes like me logo Genes that share domains with RCN2: view

Function for RCN2 Gene

Molecular function for RCN2 Gene

UniProtKB/Swiss-Prot Function:
Not known. Binds calcium.
GENATLAS Biochemistry:
ERC55 endoplasmic reticulum,lumen protein,55kDa

Phenotypes From GWAS Catalog for RCN2 Gene

Gene Ontology (GO) - Molecular Function for RCN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA,IBA 21873635
GO:0005515 protein binding IPI 7624774
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with RCN2: view
genes like me logo Genes that share phenotypes with RCN2: view

Animal Models for RCN2 Gene

MGI Knock Outs for RCN2:
  • Rcn2 Rcn2<tm1b(KOMP)Wtsi>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RCN2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RCN2 Gene

Localization for RCN2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RCN2 Gene

Endoplasmic 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 RCN2 gene
Compartment Confidence
endoplasmic reticulum 5
nucleus 4
extracellular 3
plasma membrane 1
cytoskeleton 1
mitochondrion 1
endosome 1
cytosol 1
golgi apparatus 1
peroxisome 0
lysosome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RCN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005730 nucleolus IDA --
GO:0005783 endoplasmic reticulum TAS,IDA --
GO:0005788 endoplasmic reticulum lumen IEA --
genes like me logo Genes that share ontologies with RCN2: view

Pathways & Interactions for RCN2 Gene

PathCards logo

SuperPathways for RCN2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for RCN2 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for RCN2 Gene

Drugs & Compounds for RCN2 Gene

(1) Drugs for RCN2 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 RCN2: view

Transcripts for RCN2 Gene

mRNA/cDNA for RCN2 Gene

2 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
6 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 RCN2

Alternative Splicing Database (ASD) splice patterns (SP) for RCN2 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b ^ 9a · 9b · 9c
SP1: - - - - - -
SP2: - - - -
SP3: - - - - -
SP4: - - - -
SP5: -
SP6:
SP7: - - -

Relevant External Links for RCN2 Gene

GeneLoc Exon Structure for
RCN2

Expression for RCN2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RCN2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for RCN2 Gene

This gene is overexpressed in Fetal Brain (20.4), Peripheral blood mononuclear cells (8.0), and Testis (7.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RCN2 Gene



Protein tissue co-expression partners for RCN2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RCN2

SOURCE GeneReport for Unigene cluster for RCN2 Gene:

Hs.79088

mRNA Expression by UniProt/SwissProt for RCN2 Gene:

Q14257-RCN2_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for RCN2 Gene

  • Nervous system(4.3)
  • Liver(4.2)
  • Heart(2.2)
  • Kidney(2.1)
  • Skin(2.1)
genes like me logo Genes that share expression patterns with RCN2: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for RCN2 Gene

Orthologs for RCN2 Gene

This gene was present in the common ancestor of animals.

Orthologs for RCN2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia RCN2 30 31
  • 99.58 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia RCN2 30 31
  • 90.01 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia RCN2 30 31
  • 89.7 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Rcn2 30 17 31
  • 88.75 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia RCN2 31
  • 88 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Rcn2 30
  • 87.7 (n)
Oppossum
(Monodelphis domestica)
Mammalia RCN2 31
  • 81 (a)
OneToOne
Chicken
(Gallus gallus)
Aves RCN2 30 31
  • 76.84 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia RCN2 31
  • 83 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia rcn2 30
  • 69.87 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.9415 30
Zebrafish
(Danio rerio)
Actinopterygii rcn2 30 31
  • 59.15 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010191 30
  • 49.36 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG31650 30 31
  • 48.75 (n)
OneToOne
CG9112 32
  • 36 (a)
Worm
(Caenorhabditis elegans)
Secernentea F08B6.3 32
  • 32 (a)
calu-2 31
  • 31 (a)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.6478 31
  • 35 (a)
OneToMany
-- 31
  • 29 (a)
OneToMany
Species where no ortholog for RCN2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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)
  • Wheat (Triticum aestivum)

Evolution for RCN2 Gene

ENSEMBL:
Gene Tree for RCN2 (if available)
TreeFam:
Gene Tree for RCN2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RCN2: view image

Paralogs for RCN2 Gene

Paralogs for RCN2 Gene

(3) SIMAP similar genes for RCN2 Gene using alignment to 5 proteins:

  • RCN2_HUMAN
  • A8MXP8_HUMAN
  • F8WCY5_HUMAN
  • H0YL43_HUMAN
  • L8E7F0_HUMAN
genes like me logo Genes that share paralogs with RCN2: view

Variants for RCN2 Gene

Additional dbSNP identifiers (rs#s) for RCN2 Gene

Structural Variations from Database of Genomic Variants (DGV) for RCN2 Gene

Variant ID Type Subtype PubMed ID
esv2749898 CNV deletion 23290073
esv2760041 CNV gain 17122850
nsv1040852 CNV gain 25217958
nsv1116463 OTHER inversion 24896259
nsv833058 CNV loss 17160897

Variation tolerance for RCN2 Gene

Residual Variation Intolerance Score: 62.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.05; 21.54% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RCN2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RCN2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RCN2 Gene

Disorders for RCN2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for RCN2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
anogenital venereal wart
  • anogenital human papilloma virus infectious disease
bardet-biedl syndrome
  • biedl-bardet syndrome
- elite association - COSMIC cancer census association via MalaCards
Search RCN2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for RCN2

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 RCN2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RCN2 Gene

Publications for RCN2 Gene

  1. Interaction of papillomavirus E6 oncoproteins with a putative calcium-binding protein. (PMID: 7624774) Chen JJ … Androphy EJ (Science (New York, N.Y.) 1995) 2 3 23
  2. The endoplasmic reticulum calcium-binding protein of 55 kDa is a novel EF-hand protein retained in the endoplasmic reticulum by a carboxyl-terminal His-Asp-Glu-Leu motif. (PMID: 8034671) Weis K … Lamond AI (The Journal of biological chemistry 1994) 3 4 23
  3. Identification and characterization of novel ERC-55 interacting proteins: evidence for the existence of several ERC-55 splicing variants; including the cytosolic ERC-55-C. (PMID: 19927312) Ludvigsen M … Honoré B (Proteomics 2009) 3 23
  4. Gene expression analysis in absence epilepsy using a monozygotic twin design. (PMID: 18435749) Helbig I … Hayward NK (Epilepsia 2008) 3 23
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

Products for RCN2 Gene

Sources for RCN2 Gene