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Aliases for RCN2 Gene

Aliases for RCN2 Gene

  • Reticulocalbin 2, EF-Hand Calcium Binding Domain 2 3
  • ERC55 3 4 6
  • Calcium-Binding Protein ERC-55 3 4
  • E6-Binding Protein 3 4
  • E6BP 3 4
  • Reticulocalbin 2, EF-Hand Calcium Binding Domain (Endoplasmic Reticulum Calcium-Binding Protein, 55kD) 3
  • EF-Hand Calcium Binding Domain (Endoplasmic Reticulum Calcium-Binding Protein 2
  • Reticulocalbin 2 2
  • Reticulocalbin-2 3
  • ERC-55 3
  • TCBP49 3
  • 55kD) 2

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, EF-Hand Calcium Binding Domain) is a Protein Coding gene. Diseases associated with RCN2 include anogenital venereal wart and bardet-biedl syndrome. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is CALU.

UniProtKB/Swiss-Prot for RCN2 Gene

  • Not known. Binds calcium

Gene Wiki entry for RCN2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RCN2 Gene

Genomics for RCN2 Gene

Regulatory Elements for RCN2 Gene

Genomic Location for RCN2 Gene

Start:
76,931,619 bp from pter
End:
76,954,392 bp from pter
Size:
22,774 bases
Orientation:
Plus strand

Genomic View for RCN2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for RCN2 Gene at MOPED

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 for RCN2 Gene

Gene Families for RCN2 Gene

HGNC:
  • EFHAND :EF-hand domain containing

Protein Domains for RCN2 Gene

Suggested Antigen Peptide Sequences for RCN2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q14257

UniProtKB/Swiss-Prot:

RCN2_HUMAN :
  • Q14257
Domain:
  • Contains 6 EF-hand domains.
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

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

Gene Ontology (GO) - Molecular Function for RCN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 20562859
genes like me logo Genes that share ontologies with RCN2: view

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting 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
Jensen Localization Image for RCN2 Gene COMPARTMENTS Subcellular localization image for RCN2 gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 3
cytosol 1
lysosome 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for RCN2 Gene

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

Pathways for RCN2 Gene

SuperPathways for RCN2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for RCN2 Gene

None

No data available for Pathways by source for RCN2 Gene

Compounds for RCN2 Gene

(1) HMDB Compounds for RCN2 Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2

(1) Novoseek inferred chemical compound relationships for RCN2 Gene

Compound -log(P) Hits PubMed IDs
calcium 0 5
genes like me logo Genes that share compounds with RCN2: view

Transcripts for RCN2 Gene

Unigene Clusters for RCN2 Gene

Reticulocalbin 2, EF-hand calcium binding domain:
Representative Sequences:

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
ECgene alternative splicing isoforms for
RCN2

Expression for RCN2 Gene

mRNA expression in normal human tissues for RCN2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for RCN2 Gene

SOURCE GeneReport for Unigene cluster for RCN2 Gene Hs.79088

mRNA Expression by UniProt/SwissProt for RCN2 Gene

Q14257-RCN2_HUMAN
Tissue specificity: Ubiquitous
genes like me logo Genes that share expressions with RCN2: view

No data available for mRNA differential expression in normal tissues 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 35
  • 99.58 (n)
  • 99.68 (a)
RCN2 36
  • 94 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RCN2 35
  • 90.01 (n)
  • 89.27 (a)
RCN2 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RCN2 35
  • 89.7 (n)
  • 88.96 (a)
RCN2 36
  • 60 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rcn2 35
  • 88.75 (n)
  • 93.38 (a)
Rcn2 16
Rcn2 36
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RCN2 36
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RCN2 36
  • 88 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rcn2 35
  • 87.7 (n)
  • 92.43 (a)
chicken
(Gallus gallus)
Aves RCN2 35
  • 76.84 (n)
  • 76.84 (a)
RCN2 36
  • 74 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RCN2 36
  • 83 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.9415 35
tropical clawed frog
(Silurana tropicalis)
Amphibia rcn2 35
  • 69.87 (n)
  • 64.95 (a)
zebrafish
(Danio rerio)
Actinopterygii rcn2 35
  • 59.15 (n)
  • 52 (a)
rcn2 36
  • 45 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010191 35
  • 49.36 (n)
  • 39.72 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG31650 35
  • 48.75 (n)
  • 37.37 (a)
CG31650 36
  • 32 (a)
OneToOne
CG9112 37
  • 36 (a)
worm
(Caenorhabditis elegans)
Secernentea calu-2 36
  • 31 (a)
OneToOne
F08B6.3 37
  • 32 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 29 (a)
OneToMany
CSA.6478 36
  • 35 (a)
OneToMany
Species with no ortholog for RCN2:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for RCN2 Gene

Paralogs for RCN2 Gene

Selected SIMAP similar genes for RCN2 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with RCN2: view

Variants for RCN2 Gene

Sequence variations from dbSNP and Humsavar for RCN2 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type MAF
rs15939 -- 76,949,201(+) GACTA(C/T)TTCTA synonymous-codon, reference
rs1567672 -- 76,931,901(-) gcgcc(A/G)gccgc reference, synonymous-codon
rs1611866 -- 76,943,950(+) ggtac(A/C)tagta intron-variant
rs1706848 -- 76,949,410(+) CAAAA(C/T)GTATT utr-variant-3-prime
rs1711018 -- 76,949,227(-) GGCTC(A/C/G)GAGAT utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
esv2749898 CNV Deletion 23290073
dgv757e1 CNV Complex 17122850
nsv833058 CNV Loss 17160897

Relevant External Links for RCN2 Gene

HapMap Linkage Disequilibrium report
RCN2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RCN2 Gene

Disorders for RCN2 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (2) Diseases for RCN2 Gene including...

Search for RCN2 Gene in MalaCards »

(1) University of Copenhagen DISEASES for RCN2 Gene

Relevant External Links for RCN2

Genetic Association Database (GAD)
RCN2
Human Genome Epidemiology (HuGE) Navigator
RCN2
genes like me logo Genes that share disorders with RCN2: view

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

Publications for RCN2 Gene

  1. Interaction of papillomavirus E6 oncoproteins with a putative calcium-binding protein. (PMID: 7624774) Chen J.J. … Androphy E.J. (Science 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 A.I. (J. Biol. Chem. 1994) 3 4 23
  3. Gene expression analysis in absence epilepsy using a monozygotic twin design. (PMID: 18435749) Helbig I. … Hayward N.K. (Epilepsia 2008) 3 23
  4. 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. … HonorAc B. (Proteomics 2009) 3 23
  5. Assignment of the gene for ERC-55 (RCN2) to human chromosome band 15q22.33-->q24.1 by in situ hybridization. (PMID: 9533013) Wang J.Y. … Chen J.J. (Cytogenet. Cell Genet. 1997) 2 3

Products for RCN2 Gene

Sources for RCN2 Gene

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