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    RCN2 reticulocalbin 2 [ Homo sapiens (human) ]

    Gene ID: 5955, updated on 27-Nov-2024

    Summary

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    Official Symbol
    RCN2provided by HGNC
    Official Full Name
    reticulocalbin 2provided by HGNC
    Primary source
    HGNC:HGNC:9935
    See related
    Ensembl:ENSG00000117906 MIM:602584; AllianceGenome:HGNC:9935
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    E6BP; ERC55; ERC-55; TCBP49
    Summary
    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]
    Expression
    Ubiquitous expression in testis (RPKM 51.1), brain (RPKM 32.7) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RCN2 in Genome Data Viewer
    Location:
    15q24.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (76931749..76954393)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (74790799..74813427)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (77224090..77246734)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene S-phase cyclin A associated protein in the ER Neighboring gene microRNA 3713 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6689 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:76991672-76992172 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:76992173-76992673 Neighboring gene RN7SK pseudogene 217 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6690 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6691 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:77197527-77198027 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:77208364-77208864 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:77208865-77209365 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6693 Neighboring gene uncharacterized LOC105370904 Neighboring gene RNA, 7SL, cytoplasmic 278, pseudogene Neighboring gene keratin 8 pseudogene 23

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Reticulocalbin 2 enhances osteogenic differentiation of human vascular smooth muscle cells in diabetic conditions. Chang Z, et al. Life Sci, 2019 Sep 15. PMID 31401313
    2. Reticulocalbin-2 enhances hepatocellular carcinoma proliferation via modulating the EGFR-ERK pathway. Ding D, et al. Oncogene, 2017 Nov 30. PMID 28745317
    3. 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. Weis K, et al. J Biol Chem, 1994 Jul 22. PMID 8034671
    4. Assignment of the gene for ERC-55 (RCN2) to human chromosome band 15q22.33-->q24.1 by in situ hybridization. Wang JY, et al. Cytogenet Cell Genet, 1997. PMID 9533013
    5. 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. Ludvigsen M, et al. Proteomics, 2009 Dec. PMID 19927312

    See all (179) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. RCN2 promotes Nasopharyngeal carcinoma progression by curbing Calcium flow and Mitochondrial apoptosis.
      Title: RCN2 promotes Nasopharyngeal carcinoma progression by curbing Calcium flow and Mitochondrial apoptosis.
    2. Reticulocalbin 2 as a Potential Biomarker and Therapeutic Target for Atherosclerosis.
      Title: Reticulocalbin 2 as a Potential Biomarker and Therapeutic Target for Atherosclerosis.
    3. Long non-coding RNA DUXAP8 elevates RCN2 expression and facilitates cell malignant behaviors and angiogenesis in cervical cancer via sponging miR-1297.
      Title: Long non-coding RNA DUXAP8 elevates RCN2 expression and facilitates cell malignant behaviors and angiogenesis in cervical cancer via sponging miR-1297.
    4. High expression of RCN2 is associated with vascular calcification in diabetes.
      Title: Reticulocalbin 2 enhances osteogenic differentiation of human vascular smooth muscle cells in diabetic conditions.
    5. RCN2 plays a pivotal role in hepatocellular carcinoma cell proliferation and tumor growth presumably through regulating activation of the EGFR-ERK pathway.
      Title: Reticulocalbin-2 enhances hepatocellular carcinoma proliferation via modulating the EGFR-ERK pathway.
    6. Observational study of gene-disease association. (HuGE Navigator)
      Title: An integrative method for scoring candidate genes from association studies: application to warfarin dosing.
    7. Confirmed is the existence of several ERC-55 splicing variants including ERC-55-C localized in the cytosol in association with the cytoskeleton.
      Title: 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.
    8. RCN2 is implicated in idiopathic absence epilepsy.
      Title: Gene expression analysis in absence epilepsy using a monozygotic twin design.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 gp120 is identified to have a physical interaction with reticulocalbin 2, EF-hand calcium binding domain (RCN2) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		  
    located_in endoplasmic reticulum lumen IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    reticulocalbin-2
    Names
    E6-binding protein
    calcium-binding protein ERC-55
    reticulocalbin 2, EF-hand calcium binding domain (endoplasmic reticulum calcium-binding protein, 55kD)

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001271837.2 → NP_001258766.1  reticulocalbin-2 isoform b precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has an additional in-frame exon in the coding region, compared to variant 1. The resulting isoform (b) is longer than isoform a.
      Source sequence(s)
      AC051643, AK313833, AV711990, BP275421, DB452318
      Consensus CDS
      CCDS61719.1
      UniProtKB/Swiss-Prot
      Q14257
      Related
      ENSP00000319739.5, ENST00000320963.9
      Conserved Domains (1) summary
      cd16224
      Location:29 → 314
      EFh_CREC_RCN2; EF-hand, calcium binding motif, found in reticulocalbin-2 (RCN2)

    2. NM_002902.3 → NP_002893.1  reticulocalbin-2 isoform a precursor

      See identical proteins and their annotated locations for NP_002893.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) is a predominant transcript and encodes isoform a.
      Source sequence(s)
      AC051643, AK313833, DB452318
      Consensus CDS
      CCDS10291.1
      UniProtKB/Swiss-Prot
      A8MTG6, F8WCY5, Q14257, Q53XN8
      Related
      ENSP00000378349.3, ENST00000394885.8
      Conserved Domains (1) summary
      cd16224
      Location:29 → 296
      EFh_CREC_RCN2; EF-hand, calcium binding motif, found in reticulocalbin-2 (RCN2)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      76931749..76954393
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      74790799..74813427
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q14257.1 GenPept UniProtKB/Swiss-Prot:Q14257

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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