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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. Gene Ontology (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

Additional gene information 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

GeneHancer (GH) Regulatory Elements for RCN2 Gene

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
GH15I076930 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 555.4 -0.1 -125 3 PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF207 ZNF143 RCN2 SCAPER ENSG00000269951 ENSG00000261244 PIR38724 GC15P076918
GH15I077417 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 18.7 +488.3 488330 4.7 FEZF1 DMAP1 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC MEF2D SSRP1 HMG20A PEAK1 ENSG00000259562 ENSG00000259322 ENSG00000260988 WDR61 RCN2 LOC645752 TBC1D2B LOC101929457
GH15I076335 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 5.3 -592.2 -592189 8.8 HDGF PKNOX1 SMAD1 FOXA2 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 ISL2 MAN2C1 SCAPER DNM1P35 FBXO22 SIN3A ENSG00000260274 ETFA NEIL1 LOC441728
GH15I076345 Enhancer 1.3 Ensembl ENCODE dbSUPER 5.2 -585.0 -585036 2.7 PKNOX1 ARID4B DMAP1 ZNF48 GLIS2 KLF7 SP3 TSHZ1 ZNF610 GLIS1 SCAPER ISL2 RCN2 ENSG00000270036 GC15M076371
GH15I076902 Promoter/Enhancer 1.5 Ensembl ENCODE 4.5 -27.2 -27177 4 HDGF PKNOX1 MLX ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 SLC30A9 SCAPER LOC105370905 TYRO3P HMG20A RCN2 PIR61700
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around RCN2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RCN2 gene promoter:

Genomic Locations for RCN2 Gene

Genomic Locations for RCN2 Gene
chr15:76,931,619-76,954,392
(GRCh38/hg38)
Size:
22,774 bases
Orientation:
Plus strand
chr15:77,223,960-77,242,601
(GRCh37/hg19)

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, Lys103, and isoforms=2232

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 secreted proteins

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

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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

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

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 Approved 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:

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)
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 33 34
  • 99.58 (n)
cow
(Bos Taurus)
Mammalia RCN2 33 34
  • 90.01 (n)
dog
(Canis familiaris)
Mammalia RCN2 33 34
  • 89.7 (n)
mouse
(Mus musculus)
Mammalia Rcn2 33 16 34
  • 88.75 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia RCN2 34
  • 88 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rcn2 33
  • 87.7 (n)
oppossum
(Monodelphis domestica)
Mammalia RCN2 34
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves RCN2 33 34
  • 76.84 (n)
lizard
(Anolis carolinensis)
Reptilia RCN2 34
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rcn2 33
  • 69.87 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.9415 33
zebrafish
(Danio rerio)
Actinopterygii rcn2 33 34
  • 59.15 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010191 33
  • 49.36 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG31650 33 34
  • 48.75 (n)
CG9112 35
  • 36 (a)
worm
(Caenorhabditis elegans)
Secernentea F08B6.3 35
  • 32 (a)
calu-2 34
  • 31 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6478 34
  • 35 (a)
OneToMany
-- 34
  • 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 Variation AA Info Type
rs1000020974 -- 76,932,947(+) A/G intron_variant
rs1000403069 -- 76,939,247(+) TAAATAAATAAATAAAT/ intron_variant
rs1000696212 -- 76,938,166(+) G/C intron_variant
rs1000871514 -- 76,934,869(+) T/G intron_variant
rs1000904655 -- 76,931,615(+) G/A upstream_transcript_variant

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

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

Additional Disease Information for RCN2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 22 58
  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 22 58
  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 22 58
  4. Gene expression analysis in absence epilepsy using a monozygotic twin design. (PMID: 18435749) Helbig I … Hayward NK (Epilepsia 2008) 3 22 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for RCN2 Gene

Sources for RCN2 Gene

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