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Aliases for RCN2 Gene

Aliases for RCN2 Gene

  • Reticulocalbin 2 2 3 5
  • 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
  • ERC55 3 4
  • E6BP 3 4
  • Reticulocalbin 2, EF-Hand Calcium Binding Domain 2
  • Reticulocalbin-2 3
  • ERC-55 3
  • TCBP49 3

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 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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RCN2 Gene

Genomics for RCN2 Gene

Regulatory Elements for RCN2 Gene

Enhancers for RCN2 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
GH15G077454 1.4 Ensembl ENCODE dbSUPER 11.3 +525.2 525162 4.2 PKNOX1 MLX ZFP64 EGR1 GATA2 FOS EGR2 ZNF263 SP3 ZBTB11 RCN2 IREB2 PEAK1 LOC101929457 GC15P077482 HMG20A
GH15G077083 1.2 ENCODE dbSUPER 11.4 +152.6 152560 1.5 PKNOX1 ZFP64 ZNF76 GLIS2 ZNF138 ZNF143 FOS ZNF263 ZNF202 ZNF680 TSPAN3 RCN2 PIR41987
GH15G076335 1.6 Ensembl ENCODE dbSUPER 5.2 -592.2 -592190 8.8 HDGF PKNOX1 FOXA2 CREB3L1 ARNT AGO1 ZFP64 ARID4B SIN3A DMAP1 SCAPER DNM1P35 ETFA ISL2 NEIL1 FBXO22 RCN2 LOC105370905 MAN2C1 ENSG00000259514
GH15G077000 1.3 Ensembl ENCODE dbSUPER 6.1 +71.7 71677 4.9 HDGF SOX13 CTCF PKNOX1 NFIB MAX EBF1 FOSL1 GATA2 RELB SCAPER TSPAN3 RCN2 LOC101929439 PSTPIP1 LOC105370905
GH15G076345 1.5 Ensembl ENCODE dbSUPER 5.2 -585.0 -585036 2.7 PKNOX1 ARID4B DMAP1 ZNF48 GLIS2 GATA2 KLF7 ZNF263 SP3 TSHZ1 SCAPER ISL2 DNM1P35 RCN2 ENSG00000270036 GC15M076371
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RCN2 on UCSC Golden Path with GeneCards custom track

Promoters for RCN2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000079545 181 1601 PKNOX1 CREB3L1 ARNT ARID4B SIN3A ZNF2 YY1 ZNF143 ZNF207 FOS

Genomic Location for RCN2 Gene

Chromosome:
15
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

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, isoforms=264, isoforms=2103, and isoforms=2232
  • 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

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 :
  • 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

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 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 Model Products

CRISPR Products

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 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
nucleus 5
endoplasmic reticulum 5
extracellular 3
mitochondrion 1
peroxisome 1
cytosol 1
lysosome 1
golgi apparatus 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 TAS,IDA --
GO:0005788 endoplasmic reticulum lumen IEA --
genes like me logo Genes that share ontologies with RCN2: view

Pathways & Interactions 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 0
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for RCN2 Gene



Protein tissue co-expression partners for RCN2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RCN2 Gene:

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

  • Liver(4.2)
  • Nervous system(4.1)
  • Heart(2)
genes like me logo Genes that share expression patterns with RCN2: view

Primer Products

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 34 35
  • 99.58 (n)
cow
(Bos Taurus)
Mammalia RCN2 34 35
  • 90.01 (n)
dog
(Canis familiaris)
Mammalia RCN2 34 35
  • 89.7 (n)
mouse
(Mus musculus)
Mammalia Rcn2 34 16 35
  • 88.75 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia RCN2 35
  • 88 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rcn2 34
  • 87.7 (n)
oppossum
(Monodelphis domestica)
Mammalia RCN2 35
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves RCN2 34 35
  • 76.84 (n)
lizard
(Anolis carolinensis)
Reptilia RCN2 35
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rcn2 34
  • 69.87 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.9415 34
zebrafish
(Danio rerio)
Actinopterygii rcn2 34 35
  • 59.15 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010191 34
  • 49.36 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG31650 35 34
  • 48.75 (n)
OneToOne
CG9112 36
  • 36 (a)
worm
(Caenorhabditis elegans)
Secernentea F08B6.3 36
  • 32 (a)
calu-2 35
  • 31 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6478 35
  • 35 (a)
OneToMany
-- 35
  • 29 (a)
OneToMany
Species where no ortholog for RCN2 was found in the sources mined by GeneCards:
  • 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

(3) 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
rs1000020974 -- 76,932,947(+) GGATC(A/G)TCTTG intron-variant
rs1000403069 -- 76,939,247(+) ATAAA(-/TAAATAAATAAATAAAT)AAATA intron-variant
rs1000696212 -- 76,938,166(+) AGGGT(C/G)CTTGG intron-variant
rs1000871514 -- 76,934,869(+) TTGGA(G/T)AACAT intron-variant
rs1000904655 -- 76,931,615(+) GCGCC(A/G)GCCAT upstream-variant-2KB

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)

Relevant External Links for RCN2 Gene

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

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

Disorders for RCN2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for RCN2 Gene - From: GeneCards

Disorder Aliases PubMed IDs
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

Relevant External Links for RCN2

Genetic Association Database (GAD)
RCN2
Human Genome Epidemiology (HuGE) Navigator
RCN2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RCN2
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 J.J. … Androphy E.J. (Science 1995) 2 3 22 64
  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 22 64
  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. … HonorAc B. (Proteomics 2009) 3 22 64
  4. Gene expression analysis in absence epilepsy using a monozygotic twin design. (PMID: 18435749) Helbig I. … Hayward N.K. (Epilepsia 2008) 3 22 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for RCN2 Gene

Sources for RCN2 Gene

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